#CHROM POS ID REF ALT EFFECT GENE SnpEFF AP-003 AP-005 AP-009 AP-021 10 1065710 rs1044261 C T STOP_GAINED IDI2 HIGH|NONSENSE|tGg/tAg|W144*|227|IDI2|protein_coding|CODING|ENST00000277517|exon_10_1064847_1065774 . . 0/1:99:255,0,255 . 10 5049598 rs67245807 C G SPLICE_SITE_DONOR AKR1C2 HIGH||||323|AKR1C2|protein_coding|CODING|ENST00000407674| . . 0/1:99:245,0,255 0/1:99:227,0,237 10 7601809 . TTTTTGTTTTGTTTTGTTTT TTTTTGTTTTGTTTT FRAME_SHIFT ITIH5 HIGH||-|-672|695|ITIH5|protein_coding|CODING|ENST00000397146|exon_10_7601756_7601845 0/1:99:255,0,255 0/1:99:212,0,255 0/1:99:212,0,255 . 10 18439810 . A T SPLICE_SITE_ACCEPTOR CACNB2 HIGH||||608|CACNB2|protein_coding|CODING|ENST00000377331| 0/1:54:51,0,221 . . . 10 18439810 . A T SPLICE_SITE_ACCEPTOR CACNB2 HIGH|||||CACNB2|retained_intron|CODING|ENST00000468177| 0/1:54:51,0,221 . . . 10 21435340 . ACACTC AC FRAME_SHIFT C10orf113 HIGH||-|-21|145|C10orf113|protein_coding|CODING|ENST00000377118|exon_10_21435271_21435488 . 0/1:99:255,0,255 0/1:99:255,0,255 . 10 21435340 . ACACTC AC FRAME_SHIFT C10orf113 HIGH||-|-31|155|C10orf113|protein_coding|CODING|ENST00000534331|exon_10_21435271_21435488 . 0/1:99:255,0,255 0/1:99:255,0,255 . 10 21435340 . ACACTC AC FRAME_SHIFT C10orf113 HIGH||-|-31|79|C10orf113|protein_coding|CODING|ENST00000529198|exon_10_21435271_21435488 . 0/1:99:255,0,255 0/1:99:255,0,255 . 10 27687534 . CTTTTTT CTTTTTTT FRAME_SHIFT PTCHD3 HIGH||-/A|-662?|767|PTCHD3|protein_coding|CODING|ENST00000438700|exon_10_27687116_27688169 0/1:88:106,0,85 . . . 10 31146615 rs16932010 T C START_LOST ZNF438 HIGH|MISSENSE|Atg/Gtg|M1V|818|ZNF438|protein_coding|CODING|ENST00000331737|exon_10_31146609_31146707 0/1:99:255,0,255 . . . 10 31146615 rs16932010 T C START_LOST ZNF438 HIGH|MISSENSE|Atg/Gtg|M1V|818|ZNF438|protein_coding|CODING|ENST00000444692|exon_10_31146609_31146615 0/1:99:255,0,255 . . . 10 31146615 rs16932010 T C START_LOST ZNF438 HIGH|MISSENSE|Atg/Gtg|M1V|818|ZNF438|protein_coding|CODING|ENST00000452305|exon_10_31146609_31146707 0/1:99:255,0,255 . . . 10 33136818 . TAAA TA FRAME_SHIFT C10orf68 HIGH||-|-452|587|C10orf68|protein_coding|CODING|ENST00000375030|exon_10_33136761_33136844 . . . 0/1:99:255,0,255 10 33136818 . TAAA TA FRAME_SHIFT C10orf68 HIGH||-|-469|604|C10orf68|protein_coding|CODING|ENST00000375037|exon_10_33136761_33136844 . . . 0/1:99:255,0,255 10 33136818 . TAAA TA FRAME_SHIFT C10orf68 HIGH||-|-493|628|C10orf68|protein_coding|CODING|ENST00000302316|exon_10_33136761_33136844 . . . 0/1:99:255,0,255 10 33136818 . TAAA TA FRAME_SHIFT C10orf68 HIGH||-|-497|632|C10orf68|protein_coding|CODING|ENST00000375028|exon_10_33136761_33136844 . . . 0/1:99:255,0,255 10 33136818 . TAAA TA FRAME_SHIFT C10orf68 HIGH||-|-557|692|C10orf68|protein_coding|CODING|ENST00000375025|exon_10_33136761_33136844 . . . 0/1:99:255,0,255 10 37419292 rs116939015 G T STOP_GAINED ANKRD30A HIGH|NONSENSE|Gaa/Taa|E110*|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|exon_10_37419133_37419306 . 0/1:99:255,0,255 . . 10 37419292 rs116939015 G T STOP_GAINED ANKRD30A HIGH|NONSENSE|Gaa/Taa|E110*|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|exon_10_37419133_37419306 . 0/1:99:255,0,255 . . 10 37482182 . AG A FRAME_SHIFT ANKRD30A HIGH||-|-815|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|exon_10_37482114_37482186 . . 0/1:99:218,0,207 . 10 37482182 . AG A FRAME_SHIFT ANKRD30A HIGH||-|-934|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|exon_10_37482114_37482186 . . 0/1:99:218,0,207 . 10 38654940 rs2804645 T G SPLICE_SITE_DONOR HSD17B7P2 HIGH|||||HSD17B7P2|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000277668| 0/1:99:255,0,204 0/1:99:206,0,255 . 0/1:99:221,0,223 10 45799950 rs10900195 T G SPLICE_SITE_ACCEPTOR OR13A1 HIGH||||328|OR13A1|protein_coding|CODING|ENST00000374401| . . . 0/1:99:255,0,250 10 46250563 rs201816041 C G SPLICE_SITE_DONOR FAM21C HIGH||||1341|FAM21C|protein_coding|CODING|ENST00000399588| . 0/1:57:54,0,236 . . 10 50340142 . C T STOP_GAINED FAM170B HIGH|NONSENSE|tGg/tAg|W123*|283|FAM170B|protein_coding|CODING|ENST00000311787|exon_10_50339199_50340397 . 0/1:99:184,0,255 . . 10 51748681 . ACC AC FRAME_SHIFT AGAP6 HIGH||-|-70|663|AGAP6|protein_coding|CODING|ENST00000412531|exon_10_51748350_51748698 . . . 0/1:99:164,0,109 10 51748681 . ACC AC FRAME_SHIFT AGAP6 HIGH||-|-70|686|AGAP6|protein_coding|CODING|ENST00000374056|exon_10_51748078_51748698 . . . 0/1:99:164,0,109 10 55583540 rs200691010 CT C FRAME_SHIFT PCDH15 HIGH||-|-1458|1677|PCDH15|protein_coding|CODING|ENST00000455746|exon_10_55583540_55583545 . 0/1:99:255,0,255 0/1:99:255,0,255 . 10 62671374 rs2271127 A G SPLICE_SITE_ACCEPTOR RHOBTB1 HIGH||||99|RHOBTB1|protein_coding|CODING|ENST00000536302| . 0/1:99:255,0,203 . . 10 73964243 rs11000217 G C STOP_GAINED ASCC1 HIGH|NONSENSE|tCa/tGa|S78*|400|ASCC1|protein_coding|CODING|ENST00000342444|exon_10_73964180_73964263 0/1:99:222,0,255 . . . 10 73964243 rs11000217 G C STOP_GAINED ASCC1 HIGH|NONSENSE|tCa/tGa|S78*|400|ASCC1|protein_coding|CODING|ENST00000394915|exon_10_73964180_73964263 0/1:99:222,0,255 . . . 10 88676975 . C T SPLICE_SITE_ACCEPTOR BMPR1A HIGH|||||BMPR1A|processed_transcript|CODING|ENST00000474620| . . . 0/1:99:138,0,231 10 89473069 . T A SPLICE_SITE_DONOR PAPSS2 HIGH||||619|PAPSS2|protein_coding|CODING|ENST00000456849| . 0/1:69:66,0,205 . . 10 90356022 . CTTATTTTATTTTA CTTATTTTA SPLICE_SITE_ACCEPTOR LIPJ HIGH||||153|LIPJ|protein_coding|CODING|ENST00000531458| . 0/1:99:255,0,255 . . 10 90492270 . AT A FRAME_SHIFT LIPK HIGH||-|-211|399|LIPK|protein_coding|CODING|ENST00000404190|exon_10_90492172_90492308 0/1:99:255,0,255 . . . 10 96827119 . TAAAAAAA TAAAAAAAA FRAME_SHIFT CYP2C8 HIGH||-/T|-21?|307|CYP2C8|protein_coding|CODING|ENST00000539050|exon_10_96826965_96827448 1/1:99:133,99,0 0/1:54:71,0,51 0/1:33:80,0,30 . 10 96827119 . TAAAAAAA TAAAAAAAA FRAME_SHIFT CYP2C8 HIGH||-/T|-74?|457|CYP2C8|protein_coding|CODING|ENST00000535868|exon_10_96827121_96827448 1/1:99:133,99,0 0/1:54:71,0,51 0/1:33:80,0,30 . 10 97819347 rs76053680 T G SPLICE_SITE_DONOR CCNJ HIGH|||||CCNJ|nonsense_mediated_decay|CODING|ENST00000465148| . . 0/1:32:92,0,29 . 10 99376152 rs3814556 A G STOP_LOST MORN4 HIGH|MISSENSE|Tga/Cga|*67R|66|MORN4|protein_coding|CODING|ENST00000478953|exon_10_99374310_99376168 0/1:99:255,0,255 . 1/1:99:255,84,0 0/1:99:245,0,255 10 102790062 rs117794010 T C START_LOST PDZD7 HIGH|MISSENSE|Atg/Gtg|M1V|1033|PDZD7|protein_coding|CODING|ENST00000393462|exon_10_102790061_102790141 . . . 0/1:99:145,0,226 10 125780752 . CGGGGGGGGGGGG CGGGGGGGGGGG FRAME_SHIFT CHST15 HIGH||-|-452|482|CHST15|protein_coding|CODING|ENST00000546346|exon_10_125780763_125780928 1/1:60:62,42,0 . . . 10 125780752 . CGGGGGGGGGGGG CGGGGGGGGGGG FRAME_SHIFT CHST15 HIGH||-|-452|506|CHST15|protein_coding|CODING|ENST00000421115|exon_10_125780598_125780928 1/1:60:62,42,0 . . . 10 135278244 . CTGGGGTGTGGGGTGTGGGG CTGGGGTGTGGGG FRAME_SHIFT RP11-108K14.4.1 HIGH||-|-503|693|RP11-108K14.4.1|protein_coding|CODING|ENST00000356567|exon_10_135278253_135278434 0/1:92:89,0,255 . . . 10 135278244 . CTGGGGTGTGGGGTGTGGGG CTGGGGTGTGGGG FRAME_SHIFT RP11-108K14.4.1 HIGH||-|-706|1027|RP11-108K14.4.1|protein_coding|CODING|ENST00000333815|exon_10_135278110_135278415 0/1:92:89,0,255 . . . 11 1687471 rs183280369 A G SPLICE_SITE_ACCEPTOR AP006285.1 HIGH|||||AP006285.1|pseudogene|NON_CODING|ENST00000538190| 1/1:21:66,12,0 . . . 11 1687471 rs183280369 A G SPLICE_SITE_DONOR AP006285.1 HIGH|||||AP006285.1|pseudogene|NON_CODING|ENST00000538190| 1/1:21:66,12,0 . . . 11 2938255 rs3764893 T C SPLICE_SITE_DONOR SLC22A18 HIGH|||||SLC22A18|processed_transcript|CODING|ENST00000449603| . . 0/1:94:91,0,191 . 11 4594558 . TG TGG FRAME_SHIFT C11orf40 HIGH||-/C|-95?|217|C11orf40|protein_coding|CODING|ENST00000307616|exon_11_4594536_4594702 . . . 0/1:99:179,0,255 11 4598956 rs79448530 C T STOP_GAINED C11orf40 HIGH|NONSENSE|tGg/tAg|W32*|217|C11orf40|protein_coding|CODING|ENST00000307616|exon_11_4598910_4599050 . . . 0/1:99:255,0,200 11 5068662 rs57026471 C T STOP_GAINED OR52J3 HIGH|NONSENSE|Cga/Tga|R303*|311|OR52J3|protein_coding|CODING|ENST00000380370|exon_11_5067756_5068691 . . 0/1:99:255,0,255 . 11 5475431 . TCA TCACA FRAME_SHIFT OR51I2 HIGH||-/CA|-239?|312|OR51I2|protein_coding|CODING|ENST00000341449|exon_11_5474638_5475707 . . 1/1:99:255,96,0 . 11 5809806 . GAA GA FRAME_SHIFT OR52N1 HIGH||-|-80|320|OR52N1|protein_coding|CODING|ENST00000317078|exon_11_5809084_5810046 . 0/1:99:255,0,229 . . 11 8414090 rs201927394 G GAACCA FRAME_SHIFT STK33 HIGH||-/TGGTT|-193W?|203|STK33|protein_coding|CODING|ENST00000444064|exon_11_8413426_8414257 . . 0/1:99:144,0,255 . 11 8414090 rs201927394 G GAACCA FRAME_SHIFT STK33 HIGH||-/TGGTT|-317W?|327|STK33|protein_coding|CODING|ENST00000358872|exon_11_8413418_8414257 . . 0/1:99:144,0,255 . 11 8414090 rs201927394 G GAACCA FRAME_SHIFT STK33 HIGH||-/TGGTT|-438W?|448|STK33|protein_coding|CODING|ENST00000396673|exon_11_8413418_8414257 . . 0/1:99:144,0,255 . 11 8414090 rs201927394 G GAACCA FRAME_SHIFT STK33 HIGH||-/TGGTT|-463W?|473|STK33|protein_coding|CODING|ENST00000534493|exon_11_8413734_8414257 . . 0/1:99:144,0,255 . 11 8414090 rs201927394 G GAACCA FRAME_SHIFT STK33 HIGH||-/TGGTT|-504W?|514|STK33|protein_coding|CODING|ENST00000315204|exon_11_8413418_8414257 . . 0/1:99:144,0,255 . 11 8414090 rs201927394 G GAACCA FRAME_SHIFT STK33 HIGH||-/TGGTT|-504W?|514|STK33|protein_coding|CODING|ENST00000396672|exon_11_8413418_8414257 . . 0/1:99:144,0,255 . 11 8414090 rs201927394 G GAACCA FRAME_SHIFT STK33 HIGH||-/TGGTT|-504W?|514|STK33|protein_coding|CODING|ENST00000447869|exon_11_8413418_8414257 . . 0/1:99:144,0,255 . 11 9074292 . C A SPLICE_SITE_DONOR SCUBE2 HIGH||||971|SCUBE2|protein_coding|CODING|ENST00000520467| . . 0/1:99:224,0,255 . 11 17297557 rs76997464 G A SPLICE_SITE_ACCEPTOR NUCB2 HIGH|||||NUCB2|nonsense_mediated_decay|CODING|ENST00000533773| . 0/1:99:252,0,255 . . 11 17452580 rs2074308 C T SPLICE_SITE_ACCEPTOR ABCC8 HIGH|||||ABCC8|processed_transcript|CODING|ENST00000528202| 0/1:99:185,0,255 . . 0/1:99:255,0,189 11 17548769 rs138138689 C T SPLICE_SITE_DONOR USH1C HIGH||||316|USH1C|protein_coding|CODING|ENST00000526181| . . . 0/1:60:101,0,57 11 22135029 rs78126587 T C SPLICE_SITE_DONOR CTD-2019O4.1.1 HIGH|||||CTD-2019O4.1.1|lincRNA|NON_CODING|ENST00000530837| . 1/1:99:255,75,0 . . 11 22501617 rs62621361 A G SPLICE_SITE_DONOR CTD-2140G10.1.1 HIGH|||||CTD-2140G10.1.1|lincRNA|NON_CODING|ENST00000532380| . 0/1:99:255,0,255 . . 11 44103739 . GAGTGTAAGTAGT GAGT SPLICE_SITE_DONOR ACCS HIGH|||||ACCS|retained_intron|CODING|ENST00000531190| 0/1:99:144,0,255 . . . 11 47688459 rs7939069 G A STOP_GAINED AGBL2 HIGH|NONSENSE|Cga/Tga|R795*|824|AGBL2|protein_coding|CODING|ENST00000528244|exon_11_47688167_47688615 . . . 0/1:99:255,0,255 11 55371381 rs75423534 G A STOP_GAINED OR4C11 HIGH|NONSENSE|Cag/Tag|Q157*|310|OR4C11|protein_coding|CODING|ENST00000302231|exon_11_55370830_55371874 . 0/1:99:255,0,187 . 1/1:57:247,30,0 11 55406022 rs76160133 C G STOP_GAINED OR4P4 HIGH|NONSENSE|taC/taG|Y63*|312|OR4P4|protein_coding|CODING|ENST00000314612|exon_11_55405834_55406772 . 0/1:99:255,0,212 1/1:99:255,108,0 . 11 56086560 rs117366703 C T STOP_GAINED OR8K3 HIGH|NONSENSE|Cag/Tag|Q260*|312|OR8K3|protein_coding|CODING|ENST00000312711|exon_11_56085783_56086721 . . . 0/1:99:255,0,255 11 56508224 . AG AGAGGG SPLICE_SITE_ACCEPTOR RP11-644A8.1.1 HIGH|||||RP11-644A8.1.1|pseudogene|NON_CODING|ENST00000327003| 1/1:16:255,9,0 . . . 11 56508224 . AG AGAGGG SPLICE_SITE_DONOR RP11-644A8.1.1 HIGH|||||RP11-644A8.1.1|pseudogene|NON_CODING|ENST00000327003| 1/1:16:255,9,0 . . . 11 56587056 rs61108658 C A SPLICE_SITE_DONOR OR5G5P HIGH|||||OR5G5P|processed_transcript|NON_CODING|ENST00000378368| 0/1:99:255,0,255 . . . 11 56587056 rs61108658 C A SPLICE_SITE_DONOR OR5G5P HIGH|||||OR5G5P|processed_transcript|NON_CODING|ENST00000531887| 0/1:99:255,0,255 . . . 11 61514821 rs4963390 A G SPLICE_SITE_DONOR RP11-467L20.10.1 HIGH|||||RP11-467L20.10.1|lincRNA|NON_CODING|ENST00000536405| . . 0/1:99:251,0,103 . 11 63388669 . TTTTTA T SPLICE_SITE_ACCEPTOR RP11-697H9.3.1 HIGH|||||RP11-697H9.3.1|antisense|NON_CODING|ENST00000542805| . . . 0/1:33:138,0,30 11 64879488 . A G START_LOST TM7SF2 HIGH|MISSENSE|Atg/Gtg|M1V|114|TM7SF2|protein_coding|CODING|ENST00000530750|exon_11_64879470_64879539 0/1:99:135,0,228 . . . 11 64879488 . A G START_LOST TM7SF2 HIGH|MISSENSE|Atg/Gtg|M1V|147|TM7SF2|protein_coding|CODING|ENST00000526085|exon_11_64879363_64879539 0/1:99:135,0,228 . . . 11 64879488 . A G START_LOST TM7SF2 HIGH|MISSENSE|Atg/Gtg|M1V|206|TM7SF2|protein_coding|CODING|ENST00000529414|exon_11_64879362_64879539 0/1:99:135,0,228 . . . 11 64879488 . A G START_LOST TM7SF2 HIGH|MISSENSE|Atg/Gtg|M1V|218|TM7SF2|protein_coding|CODING|ENST00000526809|exon_11_64879317_64879539 0/1:99:135,0,228 . . . 11 64879488 . A G START_LOST TM7SF2 HIGH|MISSENSE|Atg/Gtg|M1V|255|TM7SF2|protein_coding|CODING|ENST00000534371|exon_11_64879344_64879539 0/1:99:135,0,228 . . . 11 64879488 . A G START_LOST TM7SF2 HIGH|MISSENSE|Atg/Gtg|M1V|391|TM7SF2|protein_coding|CODING|ENST00000345348|exon_11_64879356_64879539 0/1:99:135,0,228 . . . 11 64879488 . A G START_LOST TM7SF2 HIGH|MISSENSE|Atg/Gtg|M1V|418|TM7SF2|protein_coding|CODING|ENST00000279263|exon_11_64879326_64879539 0/1:99:135,0,228 . . . 11 71279907 rs111350381 A G SPLICE_SITE_ACCEPTOR KRTAP5-10 HIGH||||170|KRTAP5-10|protein_coding|CODING|ENST00000376536| . . . 0/1:99:168,0,180 11 71507097 rs201147369 G A STOP_GAINED FAM86C1 HIGH|NONSENSE|tGg/tAg|W65*|125|FAM86C1|protein_coding|CODING|ENST00000528685|exon_11_71507063_71507354 0/1:99:173,0,254 . . . 11 71507097 rs201147369 G A STOP_GAINED FAM86C1 HIGH|NONSENSE|tGg/tAg|W65*|131|FAM86C1|protein_coding|CODING|ENST00000346333|exon_11_71507063_71507212 0/1:99:173,0,254 . . . 11 71507097 rs201147369 G A STOP_GAINED FAM86C1 HIGH|NONSENSE|tGg/tAg|W92*|158|FAM86C1|protein_coding|CODING|ENST00000426628|exon_11_71507063_71507212 0/1:99:173,0,254 . . . 11 71507097 rs201147369 G A STOP_GAINED FAM86C1 HIGH|NONSENSE|tGg/tAg|W99*|165|FAM86C1|protein_coding|CODING|ENST00000359244|exon_11_71507063_71507212 0/1:99:173,0,254 . . . 11 73978243 rs3741132 G A STOP_GAINED P4HA3 HIGH|NONSENSE|Cag/Tag|Q560*|604|P4HA3|protein_coding|CODING|ENST00000427714|exon_11_73977702_73978363 . 0/1:99:213,0,255 . . 11 74717537 rs180878536 A T STOP_LOST NEU3 HIGH|MISSENSE|taA/taT|*353Y|352|NEU3|protein_coding|CODING|ENST00000545272|exon_11_74716458_74717879 . 0/1:99:151,0,255 . . 11 74717537 rs180878536 A T STOP_LOST NEU3 HIGH|MISSENSE|taA/taT|*429Y|428|NEU3|protein_coding|CODING|ENST00000544263|exon_11_74716458_74718129 . 0/1:99:151,0,255 . . 11 74717537 rs180878536 A T STOP_LOST NEU3 HIGH|MISSENSE|taA/taT|*462Y|461|NEU3|protein_coding|CODING|ENST00000294064|exon_11_74716458_74718743 . 0/1:99:151,0,255 . . 11 74717537 rs180878536 A T STOP_LOST NEU3 HIGH|MISSENSE|taA/taT|*462Y|461|NEU3|protein_coding|CODING|ENST00000531509|exon_11_74716458_74718129 . 0/1:99:151,0,255 . . 11 76895770 . GGGAGGCGGGGACACCAGGGCCTG GG FRAME_SHIFT MYO7A HIGH||-|-1172|1178|MYO7A|protein_coding|CODING|ENST00000409893|exon_11_76895633_76896041 0/1:99:139,0,255 . 0/1:99:102,0,255 0/1:99:169,0,255 11 76895770 . GGGAGGCGGGGACACCAGGGCCTG GG FRAME_SHIFT MYO7A HIGH||-|-1174|1202|MYO7A|protein_coding|CODING|ENST00000343419|exon_11_76895790_76895852 0/1:99:139,0,255 . 0/1:99:102,0,255 0/1:99:169,0,255 11 76895770 . GGGAGGCGGGGACACCAGGGCCTG GG SPLICE_SITE_ACCEPTOR MYO7A HIGH||||1202|MYO7A|protein_coding|CODING|ENST00000343419| 0/1:99:139,0,255 . 0/1:99:102,0,255 0/1:99:169,0,255 11 76895770 . GGGAGGCGGGGACACCAGGGCCTG GG SPLICE_SITE_DONOR MYO7A HIGH||||1202|MYO7A|protein_coding|CODING|ENST00000343419| 0/1:99:139,0,255 . 0/1:99:102,0,255 0/1:99:169,0,255 11 89606435 rs201030722 C T SPLICE_SITE_DONOR TRIM64B HIGH||||449|TRIM64B|protein_coding|CODING|ENST00000329862| . 0/1:99:255,0,244 . . 11 102649482 rs17860955 T C SPLICE_SITE_ACCEPTOR MMP10 HIGH||||476|MMP10|protein_coding|CODING|ENST00000279441| . . 0/1:99:255,0,255 . 11 108178655 . TAAAAAA TAAAAAAA FRAME_SHIFT ATM HIGH||-/A|-1905?|3056|ATM|protein_coding|CODING|ENST00000278616|exon_11_108178624_108178711 . . 0/1:91:90,0,92 . 11 108178655 . TAAAAAA TAAAAAAA FRAME_SHIFT ATM HIGH||-/A|-1905?|3056|ATM|protein_coding|CODING|ENST00000452508|exon_11_108178624_108178711 . . 0/1:91:90,0,92 . 11 111327261 rs12270679 C A STOP_GAINED RP11-794P6.2.1 HIGH|NONSENSE|tgC/tgA|C190*|190|RP11-794P6.2.1|protein_coding|CODING|ENST00000528953|exon_11_111327240_111327330 . . . 0/1:99:124,0,211 11 130184498 . AG AGG SPLICE_SITE_DONOR RP11-121M22.1.1 HIGH||||151|RP11-121M22.1.1|protein_coding|CODING|ENST00000318117| 1/1:10:70,6,0 . . . 11 134944006 rs4436560 A C SPLICE_SITE_DONOR AP005135.2.1 HIGH|||||AP005135.2.1|lincRNA|NON_CODING|ENST00000532071| . 0/1:99:255,0,180 . 0/1:76:169,0,73 12 87870 . G A SPLICE_SITE_ACCEPTOR ABC7-42389800N19.1.1 HIGH|||||ABC7-42389800N19.1.1|unprocessed_pseudogene|NON_CODING|ENST00000543282| . 0/1:58:55,0,105 0/1:98:95,0,239 . 12 664494 rs71447498 G A STOP_GAINED B4GALNT3 HIGH|NONSENSE|tGg/tAg|W603*|635|B4GALNT3|protein_coding|CODING|ENST00000322843|exon_12_664456_664596 . . . 0/1:99:255,0,218 12 7260709 rs3752772 G C SPLICE_SITE_DONOR ABC12-49244600F4.3.1 HIGH|||||ABC12-49244600F4.3.1|antisense|NON_CODING|ENST00000435921| 0/1:99:255,0,220 . 0/1:99:250,0,203 . 12 7805414 rs34275479 C T STOP_GAINED APOBEC1 HIGH|NONSENSE|tGg/tAg|W21*|236|APOBEC1|protein_coding|CODING|ENST00000229304|exon_12_7805034_7805431 . 0/1:99:185,0,255 . . 12 8377367 . TGG TG FRAME_SHIFT FAM90A1 HIGH||-|-20|464|FAM90A1|protein_coding|CODING|ENST00000307435|exon_12_8377306_8377484 . 0/1:89:86,0,232 . . 12 8377367 . TGG TG FRAME_SHIFT FAM90A1 HIGH||-|-20|464|FAM90A1|protein_coding|CODING|ENST00000538603|exon_12_8377306_8377484 . 0/1:89:86,0,232 . . 12 9016562 rs144686314 GGC G FRAME_SHIFT A2ML1 HIGH||-|-1226|1454|A2ML1|protein_coding|CODING|ENST00000299698|exon_12_9016390_9016604 . . 0/1:99:177,0,226 . 12 9016562 rs144686314 GGC G FRAME_SHIFT A2ML1 HIGH||-|-1226|1454|A2ML1|protein_coding|CODING|ENST00000539161|exon_12_9016390_9016604 . . 0/1:99:177,0,226 . 12 9016562 rs144686314 GGC G FRAME_SHIFT A2ML1 HIGH||-|-735|963|A2ML1|protein_coding|CODING|ENST00000539547|exon_12_9016390_9016604 . . 0/1:99:177,0,226 . 12 9016562 rs144686314 GGC G FRAME_SHIFT A2ML1 HIGH||-|-776|1004|A2ML1|protein_coding|CODING|ENST00000541459|exon_12_9016390_9016604 . . 0/1:99:177,0,226 . 12 9586740 . T A SPLICE_SITE_ACCEPTOR DDX12P HIGH|||||DDX12P|unprocessed_pseudogene|NON_CODING|ENST00000440299| . . 0/1:99:146,0,156 . 12 11084829 . T C STOP_LOST PRH2 HIGH|MISSENSE|Tga/Cga|*97R|96|PRH2|protein_coding|CODING|ENST00000256972|exon_12_11084825_11086368 . . 0/1:99:255,0,205 . 12 11504864 rs113277863 C T SPLICE_SITE_ACCEPTOR PRB1 HIGH||||198|PRB1|protein_coding|CODING|ENST00000546254| . 0/1:99:232,0,238 . . 12 19441011 . CAAAAAAAAAAAAAAAAAAAA CAAAAAAAAA FRAME_SHIFT PLEKHA5 HIGH||-|-316|319|PLEKHA5|protein_coding|CODING|ENST00000412219|exon_12_19441012_19441035 . 1/1:37:178,20,0 . . 12 26479398 . GATGACTTCTCACTGTATCATCACA GA SPLICE_SITE_ACCEPTOR RP11-283G6.4.1 HIGH|||||RP11-283G6.4.1|antisense|NON_CODING|ENST00000540392| 0/1:99:188,0,255 0/1:99:165,0,255 . . 12 29642602 . CTT CTTT FRAME_SHIFT OVCH1 HIGH||-/A|-217?|1134|OVCH1|protein_coding|CODING|ENST00000318184|exon_12_29642553_29642704 0/1:99:255,0,180 . . . 12 40834968 rs200760609 C T STOP_GAINED MUC19 HIGH|NONSENSE|Cga/Tga|R888*|1638|MUC19|protein_coding|CODING|ENST00000425730|exon_12_40834863_40835014 0/1:99:255,0,255 . . . 12 48410978 rs11168355 G A SPLICE_SITE_ACCEPTOR RP1-228P16.4.1 HIGH|||||RP1-228P16.4.1|antisense|NON_CODING|ENST00000546738| . . 0/1:99:141,0,255 1/1:99:255,78,0 12 51723598 . AGGGGG AGGGGGG FRAME_SHIFT CELA1 HIGH||-/C|-208?|258|CELA1|protein_coding|CODING|ENST00000293636|exon_12_51723468_51723617 . . 1/1:99:202,93,0 . 12 52651953 rs1870218 C A SPLICE_SITE_DONOR KRT121P HIGH|||||KRT121P|processed_transcript|NON_CODING|ENST00000529785| . . 0/1:99:228,0,255 . 12 52651953 rs1870218 C A SPLICE_SITE_DONOR KRT121P HIGH|||||KRT121P|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000534226| . . 0/1:99:228,0,255 . 12 52711747 rs146753414 C A STOP_GAINED KRT83 HIGH|NONSENSE|Gaa/Taa|E201*|493|KRT83|protein_coding|CODING|ENST00000293670|exon_12_52711694_52711754 . . . 0/1:99:225,0,213 12 52799923 rs148453926 G A STOP_GAINED KRT82 HIGH|NONSENSE|Cga/Tga|R47*|513|KRT82|protein_coding|CODING|ENST00000257974|exon_12_52799651_52800139 . . 0/1:99:255,0,197 . 12 53227665 . AGGGGGG AGGGGG FRAME_SHIFT KRT79 HIGH||-|-125|535|KRT79|protein_coding|CODING|ENST00000330553|exon_12_53227568_53228079 . 0/1:85:82,0,96 . . 12 53242579 rs2253798 C T SPLICE_SITE_DONOR KRT78 HIGH||||291|KRT78|protein_coding|CODING|ENST00000539860| . 0/1:99:206,0,223 . . 12 54865919 . GCAGGTTACCAG GCAG SPLICE_SITE_DONOR GTSF1 HIGH|||||GTSF1|processed_transcript|CODING|ENST00000549083| . 0/1:99:189,0,255 . . 12 60488908 . A T SPLICE_SITE_ACCEPTOR RP11-316A16.1.1 HIGH|||||RP11-316A16.1.1|lincRNA|NON_CODING|ENST00000552378| 0/1:55:52,0,229 . . . 12 65477582 . CTTTC CTTTCATTTC FRAME_SHIFT WIF1 HIGH||-/GAAAT|-16E?|39|WIF1|protein_coding|CODING|ENST00000535025|exon_12_65477582_65477633 . . . 0/1:99:192,0,152 12 77256658 . CGG CG FRAME_SHIFT CSRP2 HIGH||-|-121|243|CSRP2|protein_coding|CODING|ENST00000552330|exon_12_77256590_77256739 . . . 0/1:99:192,0,255 12 80830164 rs188234804 T C SPLICE_SITE_DONOR PTPRQ HIGH||||352|PTPRQ|protein_coding|CODING|ENST00000547376| . 0/1:99:255,0,255 . . 12 102120196 . TTGACTGACT TTGACT FRAME_SHIFT CHPT1 HIGH||-|-232|231|CHPT1|protein_coding|CODING|ENST00000543999|exon_12_102120072_102120805 . . 0/1:99:255,0,214 . 12 102120196 . TTGACTGACT TTGACT FRAME_SHIFT CHPT1 HIGH||-|-399|398|CHPT1|protein_coding|CODING|ENST00000549872|exon_12_102120072_102120805 . . 0/1:99:255,0,214 . 12 120109284 . AGGCACCTCTTCACAGGACGGCA AGGCA SPLICE_SITE_ACCEPTOR PRKAB1 HIGH|||||PRKAB1|nonsense_mediated_decay|CODING|ENST00000537400| . . 0/1:99:130,0,255 . 12 121093621 . AGTGCGTGCGTGCGTG AGTGCGTGCGTG FRAME_SHIFT CABP1 HIGH||-|-7|306|CABP1|protein_coding|CODING|ENST00000453000|exon_12_121093102_121094075 . . . 1/1:33:213,18,0 12 121093653 . TGCGC TGC FRAME_SHIFT CABP1 HIGH||-|-15|306|CABP1|protein_coding|CODING|ENST00000453000|exon_12_121093102_121094075 1/1:32:66,18,0 . . . 12 122018732 . CTGT CT FRAME_SHIFT KDM2B HIGH||-|-28|1306|KDM2B|protein_coding|CODING|ENST00000261824|exon_12_122018691_122018920 . 0/1:99:157,0,255 . 0/1:99:252,0,192 12 122018732 . CTGT CT FRAME_SHIFT KDM2B HIGH||-|-28|1326|KDM2B|protein_coding|CODING|ENST00000397480|exon_12_122018691_122018920 . 0/1:99:157,0,255 . 0/1:99:252,0,192 12 122018732 . CTGT CT FRAME_SHIFT KDM2B HIGH||-|-28|1336|KDM2B|protein_coding|CODING|ENST00000377071|exon_12_122018691_122018889 . 0/1:99:157,0,255 . 0/1:99:252,0,192 12 122018732 . CTGT CT FRAME_SHIFT KDM2B HIGH||-|-28|706|KDM2B|protein_coding|CODING|ENST00000397478|exon_12_122018691_122018859 . 0/1:99:157,0,255 . 0/1:99:252,0,192 13 19434585 rs2440021 A G SPLICE_SITE_ACCEPTOR LINC00419 HIGH|||||LINC00419|lincRNA|NON_CODING|ENST00000418741| 0/1:99:215,0,255 . . . 13 20000417 rs6491273 C T SPLICE_SITE_DONOR TPTE2 HIGH||||488|TPTE2|protein_coding|CODING|ENST00000343548| 0/1:99:255,0,198 . 1/1:99:255,132,0 . 13 51484617 rs9526704 A T SPLICE_SITE_DONOR RNASEH2B-AS1 HIGH|||||RNASEH2B-AS1|antisense|NON_CODING|ENST00000454605| . 0/1:99:208,0,228 . 0/1:99:188,0,200 13 53157322 rs61958079 C T SPLICE_SITE_DONOR TPTE2P3 HIGH|||||TPTE2P3|unprocessed_pseudogene|NON_CODING|ENST00000441562| . . 0/1:99:255,0,255 . 13 73410239 . A AN SPLICE_SITE_ACCEPTOR PIBF1 HIGH||||413|PIBF1|protein_coding|CODING|ENST00000538949| . . 1/1:73:63,54,0 . 13 78272276 . GCC GCCC FRAME_SHIFT SLAIN1 HIGH||-/C|-77?|568|SLAIN1|protein_coding|CODING|ENST00000389459|exon_13_78272049_78272338 . . . 1/1:10:61,6,0 13 78272276 . GCC GCCC FRAME_SHIFT SLAIN1 HIGH||-/C|-77?|568|SLAIN1|protein_coding|CODING|ENST00000466548|exon_13_78272023_78272338 . . . 1/1:10:61,6,0 13 99461555 . GTTTTTTTTT GTTTTTTTTTT FRAME_SHIFT DOCK9 HIGH||-/A|-424?|423|DOCK9|protein_coding|CODING|ENST00000340449|exon_13_99461563_99461719 . 1/1:99:103,99,0 . . 13 114453591 . GTGTGTGTGCATGCCTGTGTGTGCATG GTGTGTGTGCATG SPLICE_SITE_ACCEPTOR AC187648.1 HIGH|||||AC187648.1|pseudogene|NON_CODING|ENST00000413535| . . 0/1:99:173,0,255 1/1:7:185,4,0 13 114453591 . GTGTGTGTGCATGCCTGTGTGTGCATG GTGTGTGTGCATG SPLICE_SITE_DONOR AC187648.1 HIGH|||||AC187648.1|pseudogene|NON_CODING|ENST00000413535| . . 0/1:99:173,0,255 1/1:7:185,4,0 14 19114448 . C A SPLICE_SITE_ACCEPTOR RP11-754I20.1.1 HIGH|||||RP11-754I20.1.1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000514609| . 0/1:99:163,0,255 . . 14 21026773 rs891297 C T SPLICE_SITE_DONOR RNASE9 HIGH||||210|RNASE9|protein_coding|CODING|ENST00000557209| 0/1:99:199,0,235 0/1:99:255,0,255 . . 14 45604461 rs8009193 C T SPLICE_SITE_DONOR FKBP3 HIGH||||224|FKBP3|protein_coding|CODING|ENST00000216330| 0/1:99:255,0,246 . . . 14 45628283 . TTATATATATATATA TTATATATATATA SPLICE_SITE_ACCEPTOR FANCM HIGH||||2022|FANCM|protein_coding|CODING|ENST00000542564| 0/1:99:227,0,255 . . . 14 45654410 . TCTTACTTA TCTTA SPLICE_SITE_ACCEPTOR FANCM HIGH||||2022|FANCM|protein_coding|CODING|ENST00000542564| 0/1:99:255,0,255 . . . 14 50311530 rs187399742 G C STOP_GAINED AL627171.1 HIGH|NONSENSE|tCa/tGa|S8*|19|AL627171.1|protein_coding|CODING|ENST00000358799|exon_14_50311520_50311552 . . 0/1:99:141,0,160 . 14 56464965 . T G SPLICE_SITE_ACCEPTOR AL163952.1 HIGH|||||AL163952.1|pseudogene|NON_CODING|ENST00000395298| . . 0/1:99:97,0,255 . 14 56464968 . G A SPLICE_SITE_DONOR AL163952.1 HIGH|||||AL163952.1|pseudogene|NON_CODING|ENST00000395298| . . 0/1:99:104,0,255 . 14 57672624 rs201768301 AGG A FRAME_SHIFT AL391152.1 HIGH||-|-16|56|AL391152.1|protein_coding|CODING|ENST00000391612|exon_14_57671888_57673291 . . 0/1:99:255,0,255 . 14 60474859 rs35427175 G A STOP_GAINED LRRC9 HIGH|NONSENSE|tGg/tAg|W1038*|1453|LRRC9|protein_coding|CODING|ENST00000445360|exon_14_60474810_60474932 . 0/1:99:255,0,255 . . 14 65688936 rs28440787 C T SPLICE_SITE_DONOR CTD-2509G16.2.1 HIGH|||||CTD-2509G16.2.1|lincRNA|NON_CODING|ENST00000531609| . . 0/1:99:255,0,255 . 14 69006916 rs55670604 G A SPLICE_SITE_ACCEPTOR RAD51B HIGH|||||RAD51B|processed_transcript|CODING|ENST00000497460| . 0/1:99:224,0,178 . . 14 90303382 rs114827258 G T STOP_GAINED EFCAB11 HIGH|NONSENSE|tCa/tAa|S110*|149|EFCAB11|protein_coding|CODING|ENST00000267544|exon_14_90303360_90303489 . . . 0/1:92:89,0,209 14 101324135 rs116907618 G C SPLICE_SITE_DONOR MEG3 HIGH|||||MEG3|lincRNA|NON_CODING|ENST00000521256| 0/1:99:209,0,193 . . . 14 103651313 . G A SPLICE_SITE_ACCEPTOR RP11-736N17.1.1 HIGH|||||RP11-736N17.1.1|processed_pseudogene|NON_CODING|ENST00000560971| . 0/1:69:66,0,235 . . 14 103986442 . GCACCTGCCCTGCTCACCTG GCACCTGCCCTGCTCACCTGCCCTGCTCACCTG FRAME_SHIFT CKB HIGH||-/CAGGTGAGCAGGG|-120QVSR?|179|CKB|protein_coding|CODING|ENST00000553610|exon_14_103986459_103986648 . 0/1:99:120,0,247 . . 14 103986442 . GCACCTGCCCTGCTCACCTG GCACCTGCCCTGCTCACCTGCCCTGCTCACCTG FRAME_SHIFT CKB HIGH||-/CAGGTGAGCAGGG|-287QVSR?|346|CKB|protein_coding|CODING|ENST00000428256|exon_14_103986459_103986648 . 0/1:99:120,0,247 . . 14 103986442 . GCACCTGCCCTGCTCACCTG GCACCTGCCCTGCTCACCTGCCCTGCTCACCTG FRAME_SHIFT CKB HIGH||-/CAGGTGAGCAGGG|-322QVSR?|381|CKB|protein_coding|CODING|ENST00000348956|exon_14_103986459_103986648 . 0/1:99:120,0,247 . . 14 105957146 rs183664609 G A SPLICE_SITE_DONOR C14orf80 HIGH||||109|C14orf80|protein_coding|CODING|ENST00000443229| . . 0/1:79:77,0,83 . 15 20554706 rs2133835 T C SPLICE_SITE_DONOR RP11-509A17.3.1 HIGH|||||RP11-509A17.3.1|lincRNA|NON_CODING|ENST00000554815| 0/1:99:255,0,255 0/1:99:147,0,255 . 0/1:99:255,0,255 15 23312250 . A G SPLICE_SITE_DONOR HERC2P2 HIGH|||||HERC2P2|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000454333| 1/1:27:72,15,0 . . . 15 23609550 rs140059935 G T STOP_GAINED RP11-529J17.2.1 HIGH|NONSENSE|Gaa/Taa|E470*|625|RP11-529J17.2.1|protein_coding|CODING|ENST00000562295|exon_15_23609490_23609590 . . 0/1:73:231,0,70 . 15 23685225 . TG TGG FRAME_SHIFT GOLGA6L2 HIGH||-/C|-799?|909|GOLGA6L2|protein_coding|CODING|ENST00000567107|exon_15_23684645_23686829 0/1:32:59,0,29 0/1:3:71,0,0 . . 15 31294714 rs3784589 C A STOP_GAINED TRPM1 HIGH|NONSENSE|Gaa/Taa|E1299*|1527|TRPM1|protein_coding|CODING|ENST00000558768|exon_15_31294025_31295273 . . . 0/1:99:217,0,255 15 31294714 rs3784589 C A STOP_GAINED TRPM1 HIGH|NONSENSE|Gaa/Taa|E1375*|1389|TRPM1|protein_coding|CODING|ENST00000558445|exon_15_31294667_31295273 . . . 0/1:99:217,0,255 15 31294714 rs3784589 C A STOP_GAINED TRPM1 HIGH|NONSENSE|Gaa/Taa|E1375*|1603|TRPM1|protein_coding|CODING|ENST00000397793|exon_15_31293553_31295273 . . . 0/1:99:217,0,255 15 31294714 rs3784589 C A STOP_GAINED TRPM1 HIGH|NONSENSE|Gaa/Taa|E1375*|1603|TRPM1|protein_coding|CODING|ENST00000397795|exon_15_31293264_31295273 . . . 0/1:99:217,0,255 15 31294714 rs3784589 C A STOP_GAINED TRPM1 HIGH|NONSENSE|Gaa/Taa|E1397*|1625|TRPM1|protein_coding|CODING|ENST00000256552|exon_15_31293537_31295273 . . . 0/1:99:217,0,255 15 31294714 rs3784589 C A STOP_GAINED TRPM1 HIGH|NONSENSE|Gaa/Taa|E1414*|1642|TRPM1|protein_coding|CODING|ENST00000542188|exon_15_31293553_31295273 . . . 0/1:99:217,0,255 15 31294714 rs3784589 C A STOP_GAINED TRPM1 HIGH|NONSENSE|Gaa/Taa|E490*|504|TRPM1|protein_coding|CODING|ENST00000559177|exon_15_31294667_31295273 . . . 0/1:99:217,0,255 15 32929343 . CAT C FRAME_SHIFT ARHGAP11A HIGH||-|-601|834|ARHGAP11A|protein_coding|CODING|ENST00000543522|exon_15_32928458_32930104 . . . 0/1:99:255,0,255 15 32929343 . CAT C FRAME_SHIFT ARHGAP11A HIGH||-|-601|834|ARHGAP11A|protein_coding|CODING|ENST00000565905|exon_15_32928458_32930311 . . . 0/1:99:255,0,255 15 32929343 . CAT C FRAME_SHIFT ARHGAP11A HIGH||-|-790|1023|ARHGAP11A|protein_coding|CODING|ENST00000361627|exon_15_32928458_32932150 . . . 0/1:99:255,0,255 15 32958119 rs28579568 C G SPLICE_SITE_ACCEPTOR RP11-1000B6.2.1 HIGH|||||RP11-1000B6.2.1|antisense|NON_CODING|ENST00000460684| . 0/1:99:255,0,255 0/1:99:248,0,247 . 15 35230936 . A AGTTC SPLICE_SITE_DONOR AQR HIGH||||1485|AQR|protein_coding|CODING|ENST00000156471| . . 1/1:25:255,14,0 . 15 41099899 . TGGGGCGGGGC TGGGGCGGGGCGGGGC FRAME_SHIFT ZFYVE19 HIGH||-/GGGGC|-12G?|306|ZFYVE19|protein_coding|CODING|ENST00000566407|exon_15_41099875_41100066 0/1:95:92,0,255 . . 1/1:75:255,39,0 15 41099899 . TGGGGCGGGGC TGGGGCGGGGCGGGGC FRAME_SHIFT ZFYVE19 HIGH||-/GGGGC|-41G?|403|ZFYVE19|protein_coding|CODING|ENST00000299173|exon_15_41099788_41100066 0/1:95:92,0,255 . . 1/1:75:255,39,0 15 41099899 . TGGGGCGGGGC TGGGGCGGGGCGGGGC FRAME_SHIFT ZFYVE19 HIGH||-/GGGGC|-41G?|471|ZFYVE19|protein_coding|CODING|ENST00000355341|exon_15_41099287_41100066 0/1:95:92,0,255 . . 1/1:75:255,39,0 15 42979405 . A T STOP_GAINED STARD9 HIGH|NONSENSE|Aaa/Taa|K1877*|4700|STARD9|protein_coding|CODING|ENST00000290607|exon_15_42976314_42986540 . 0/1:99:255,0,253 . . 15 43925134 rs7169097 T A SPLICE_SITE_ACCEPTOR CATSPER2 HIGH||||530|CATSPER2|protein_coding|CODING|ENST00000299989| . 1/1:16:113,9,0 . 1/1:23:111,13,0 15 44036768 rs117091329 T A SPLICE_SITE_ACCEPTOR CATSPER2P1 HIGH|||||CATSPER2P1|processed_transcript|NON_CODING|ENST00000429276| . . 0/1:99:249,0,220 . 15 44036768 rs117091329 T A SPLICE_SITE_ACCEPTOR CATSPER2P1 HIGH|||||CATSPER2P1|unprocessed_pseudogene|NON_CODING|ENST00000439564| . . 0/1:99:249,0,220 . 15 58571401 rs72739147 A T START_LOST ALDH1A2 HIGH|MISSENSE|aTg/aAg|M1K|489|ALDH1A2|protein_coding|CODING|ENST00000558231|exon_15_58571373_58571462 . 0/1:99:255,0,255 . . 15 62932556 rs35757182 G C STOP_GAINED RP11-625H11.1.1 HIGH|NONSENSE|tCa/tGa|S19*|114|RP11-625H11.1.1|protein_coding|CODING|ENST00000558940|exon_15_62932359_62932561 0/1:99:213,0,240 . 0/1:99:214,0,255 . 15 64648186 rs35755513 C T SPLICE_SITE_DONOR CSNK1G1 HIGH||||393|CSNK1G1|protein_coding|CODING|ENST00000303032| . . 0/1:99:210,0,192 . 15 64648186 rs35755513 C T SPLICE_SITE_DONOR CSNK1G1 HIGH||||422|CSNK1G1|protein_coding|CODING|ENST00000303052| . . 0/1:99:210,0,192 . 15 68349914 . AGTGTGT AGTGT SPLICE_SITE_DONOR PIAS1 HIGH|||||PIAS1|nonsense_mediated_decay|CODING|ENST00000562190| . . . 0/1:99:255,0,255 15 68594393 . AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGT SPLICE_SITE_ACCEPTOR ITGA11 HIGH||||823|ITGA11|protein_coding|CODING|ENST00000535491| . 1/1:10:87,26,20,66,0,63 . . 15 69629679 . G A SPLICE_SITE_ACCEPTOR PAQR5 HIGH||||330|PAQR5|protein_coding|CODING|ENST00000395407| . 0/1:99:255,0,255 . . 15 69629679 . G A SPLICE_SITE_ACCEPTOR PAQR5 HIGH||||330|PAQR5|protein_coding|CODING|ENST00000561153| . 0/1:99:255,0,255 . . 15 73514429 . G A SPLICE_SITE_DONOR NEO1 HIGH|||||NEO1|processed_transcript|CODING|ENST00000560407| . . . 0/1:93:90,0,173 15 73552594 . TCCACTTTTCCTTCCCA TCCACTTTTCCTTCCCACTTTTCCTTCCCA SPLICE_SITE_ACCEPTOR NEO1 HIGH||||1130|NEO1|protein_coding|CODING|ENST00000560328| 0/1:76:73,0,255 . . . 15 75112974 rs148169854 A G SPLICE_SITE_ACCEPTOR LMAN1L HIGH||||526|LMAN1L|protein_coding|CODING|ENST00000309664| . . . 0/1:99:135,0,204 15 78269130 rs189196149 G A SPLICE_SITE_ACCEPTOR RP11-114H24.5.1 HIGH|||||RP11-114H24.5.1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000566116| . . 0/1:99:158,0,237 . 15 81635073 rs75632470 G A SPLICE_SITE_ACCEPTOR RP11-761I4.3.1 HIGH|||||RP11-761I4.3.1|antisense|NON_CODING|ENST00000559277| 0/1:99:212,0,255 . . . 15 90818469 rs12595409 C T STOP_GAINED AC091167.2 HIGH|NONSENSE|Cag/Tag|Q37*|196|AC091167.2|protein_coding|CODING|ENST00000411845|exon_15_90818266_90820841 . . . 0/1:99:143,0,214 15 99927272 rs7171173 TTTGTTGTTGTTG TTTGTTGTTG,GTTGTTGTTGTTG SPLICE_SITE_DONOR LRRC28 HIGH|||||LRRC28|retained_intron|CODING|ENST00000559819| . . 0/1:99:143,0,253,.,.,. 2/2:69:.,.,.,.,.,0 16 686228 . G C STOP_GAINED C16orf13 HIGH|NONSENSE|taC/taG|Y11*|160|C16orf13|protein_coding|CODING|ENST00000565163|exon_16_686094_686260 . 0/1:99:255,0,228 . . 16 686228 . G C STOP_GAINED C16orf13 HIGH|NONSENSE|taC/taG|Y21*|107|C16orf13|protein_coding|CODING|ENST00000338401|exon_16_686094_686342 . 0/1:99:255,0,228 . . 16 686228 . G C STOP_GAINED C16orf13 HIGH|NONSENSE|taC/taG|Y21*|127|C16orf13|protein_coding|CODING|ENST00000397664|exon_16_686094_686351 . 0/1:99:255,0,228 . . 16 686228 . G C STOP_GAINED C16orf13 HIGH|NONSENSE|taC/taG|Y21*|173|C16orf13|protein_coding|CODING|ENST00000568830|exon_16_686094_686358 . 0/1:99:255,0,228 . . 16 686228 . G C STOP_GAINED C16orf13 HIGH|NONSENSE|taC/taG|Y21*|185|C16orf13|protein_coding|CODING|ENST00000397665|exon_16_686094_686290 . 0/1:99:255,0,228 . . 16 686228 . G C STOP_GAINED C16orf13 HIGH|NONSENSE|taC/taG|Y21*|204|C16orf13|protein_coding|CODING|ENST00000301686|exon_16_686094_686302 . 0/1:99:255,0,228 . . 16 686228 . G C STOP_GAINED C16orf13 HIGH|NONSENSE|taC/taG|Y21*|205|C16orf13|protein_coding|CODING|ENST00000397666|exon_16_686094_686302 . 0/1:99:255,0,228 . . 16 863355 . AGGACGCCGGACCGACACGG AGG FRAME_SHIFT PRR25 HIGH||-|-236|402|PRR25|protein_coding|CODING|ENST00000301698|exon_16_863296_863861 0/1:99:105,0,255 0/1:99:113,0,209 . 0/1:99:117,0,248 16 1660417 . C T SPLICE_SITE_DONOR IFT140 HIGH||||119|IFT140|protein_coding|CODING|ENST00000569646| 0/1:86:218,0,83 . . . 16 2059619 . CGG CG FRAME_SHIFT ZNF598 HIGH||-|-42|904|ZNF598|protein_coding|CODING|ENST00000431526|exon_16_2059525_2059623 . 1/1:75:179,39,0 . . 16 2294555 . T C SPLICE_SITE_ACCEPTOR ECI1 HIGH||||243|ECI1|protein_coding|CODING|ENST00000570258| . . 0/1:99:191,0,255 . 16 2294555 . T C SPLICE_SITE_ACCEPTOR ECI1 HIGH|||||ECI1|retained_intron|CODING|ENST00000561688| . . 0/1:99:191,0,255 . 16 12002335 . AGG AG SPLICE_SITE_DONOR RP11-166B2.5.1 HIGH|||||RP11-166B2.5.1|antisense|NON_CODING|ENST00000562802| 1/1:14:87,8,0 . . . 16 20477004 rs59261767 C T STOP_GAINED ACSM2A HIGH|NONSENSE|Cga/Tga|R115*|208|ACSM2A|protein_coding|CODING|ENST00000424070|exon_16_20476839_20477049 0/1:99:255,0,216 . . . 16 20477004 rs59261767 C T STOP_GAINED ACSM2A HIGH|NONSENSE|Cga/Tga|R115*|577|ACSM2A|protein_coding|CODING|ENST00000219054|exon_16_20476839_20477049 0/1:99:255,0,216 . . . 16 20477004 rs59261767 C T STOP_GAINED ACSM2A HIGH|NONSENSE|Cga/Tga|R115*|577|ACSM2A|protein_coding|CODING|ENST00000396104|exon_16_20476839_20477049 0/1:99:255,0,216 . . . 16 20477004 rs59261767 C T STOP_GAINED ACSM2A HIGH|NONSENSE|Cga/Tga|R36*|498|ACSM2A|protein_coding|CODING|ENST00000417235|exon_16_20476839_20477049 0/1:99:255,0,216 . . . 16 29831224 . G C SPLICE_SITE_DONOR MVP HIGH||||25|MVP|protein_coding|CODING|ENST00000562285| . . . 0/1:99:177,0,224 16 31235532 . CT C FRAME_SHIFT TRIM72 HIGH||-|-297|477|TRIM72|protein_coding|CODING|ENST00000322122|exon_16_31235502_31236510 0/1:99:133,0,166 . . . 16 52128986 rs62042829 G A SPLICE_SITE_DONOR RP11-152O14.1.1 HIGH|||||RP11-152O14.1.1|antisense|NON_CODING|ENST00000566439| . 0/1:99:255,0,255 0/1:99:255,0,209 . 16 55905676 rs72810507 C T SPLICE_SITE_ACCEPTOR CES5A HIGH||||545|CES5A|protein_coding|CODING|ENST00000520435| . 0/1:99:255,0,216 0/1:99:251,0,255 . 16 55905676 rs72810507 C T SPLICE_SITE_ACCEPTOR CES5A HIGH||||74|CES5A|protein_coding|CODING|ENST00000536025| . 0/1:99:255,0,216 0/1:99:251,0,255 . 16 57662767 rs76652341 A T SPLICE_SITE_DONOR GPR56 HIGH||||693|GPR56|protein_coding|CODING|ENST00000388812| 0/1:99:164,0,181 . . 0/1:74:71,0,151 16 58577315 . GAAAAAAAAAAAAA GAAAAAAAAAAAA FRAME_SHIFT CNOT1 HIGH||-|-1539|1551|CNOT1|protein_coding|CODING|ENST00000441024|exon_16_58577231_58577807 . . . 1/1:79:69,54,0 16 66547767 rs2241619 T C SPLICE_SITE_ACCEPTOR TK2 HIGH||||282|TK2|protein_coding|CODING|ENST00000564917| 1/1:99:255,51,0 . . . 16 66786804 rs9932340 G A SPLICE_SITE_DONOR RP11-61A14.4.1 HIGH|||||RP11-61A14.4.1|lincRNA|NON_CODING|ENST00000501143| 0/1:99:255,0,179 0/1:99:255,0,251 . . 16 66861836 rs7195853 G A SPLICE_SITE_DONOR NAE1 HIGH|||||NAE1|nonsense_mediated_decay|CODING|ENST00000569348| 0/1:99:234,0,230 0/1:99:146,0,227 . . 16 67694244 . AC A FRAME_SHIFT ACD HIGH||-|-46|541|ACD|protein_coding|CODING|ENST00000219251|exon_16_67694025_67694713 . . 0/1:99:166,0,255 . 16 67694244 . AC A FRAME_SHIFT ACD HIGH||-|-46|544|ACD|protein_coding|CODING|ENST00000393919|exon_16_67694025_67694646 . . 0/1:99:166,0,255 . 16 67920009 rs143671493 C A STOP_GAINED NRN1L HIGH|NONSENSE|tgC/tgA|C115*|165|NRN1L|protein_coding|CODING|ENST00000339176|exon_16_67919877_67920275 . . 0/1:99:199,0,173 . 16 70181578 . T C SPLICE_SITE_DONOR PDPR HIGH|||||PDPR|nonsense_mediated_decay|CODING|ENST00000564563| 0/1:99:96,0,255 . . . 16 84074671 rs9927826 C G SPLICE_SITE_DONOR SLC38A8 HIGH||||45|SLC38A8|protein_coding|CODING|ENST00000569816| . 0/1:99:255,0,255 . . 16 88596848 rs55893441 A T SPLICE_SITE_DONOR RP11-21B21.4.1 HIGH|||||RP11-21B21.4.1|antisense|NON_CODING|ENST00000563243| 0/1:99:174,0,196 . . . 16 88780062 rs201111272 C A STOP_GAINED CTU2 HIGH|NONSENSE|tCg/tAg|S207*|428|CTU2|protein_coding|CODING|ENST00000378384|exon_16_88780055_88780186 . . . 0/1:99:215,0,193 16 88780062 rs201111272 C A STOP_GAINED CTU2 HIGH|NONSENSE|tCg/tAg|S294*|485|CTU2|protein_coding|CODING|ENST00000312060|exon_16_88780055_88780186 . . . 0/1:99:215,0,193 16 88780062 rs201111272 C A STOP_GAINED CTU2 HIGH|NONSENSE|tCg/tAg|S294*|515|CTU2|protein_coding|CODING|ENST00000453996|exon_16_88780055_88780186 . . . 0/1:99:215,0,193 16 88780062 rs201111272 C A STOP_GAINED CTU2 HIGH|NONSENSE|tCg/tAg|S365*|586|CTU2|protein_coding|CODING|ENST00000567949|exon_16_88780055_88780186 . . . 0/1:99:215,0,193 16 90110950 rs1048149 C T STOP_GAINED AC133919.6.1 HIGH|NONSENSE|tGg/tAg|W23*|170|AC133919.6.1|protein_coding|CODING|ENST00000517889|exon_16_90110910_90111031 . . 0/1:99:176,0,244 . 16 90110950 rs1048149 C T STOP_GAINED AC133919.6.1 HIGH|NONSENSE|tGg/tAg|W23*|97|AC133919.6.1|protein_coding|CODING|ENST00000521551|exon_16_90110910_90111031 . . 0/1:99:176,0,244 . 17 1388303 . G A SPLICE_SITE_DONOR MYO1C HIGH||||1044|MYO1C|protein_coding|CODING|ENST00000535856| . 0/1:99:114,0,157 . . 17 5334873 . GAAA GAA FRAME_SHIFT AC004148.1 HIGH||-|-154|186|AC004148.1|protein_coding|CODING|ENST00000399576|exon_17_5334875_5336196 1/1:99:255,63,0 . 0/1:99:180,0,218 . 17 8012488 . GCACCTCTCA GCACCTCTCACCTCTCA FRAME_SHIFT ALOXE3 HIGH||-/TGAGAGG|-519*E?|711|ALOXE3|protein_coding|CODING|ENST00000448843|exon_17_8012492_8012661 0/1:99:153,0,255 . . . 17 8012488 . GCACCTCTCA GCACCTCTCACCTCTCA FRAME_SHIFT ALOXE3 HIGH||-/TGAGAGG|-651*E?|843|ALOXE3|protein_coding|CODING|ENST00000318227|exon_17_8012492_8012661 0/1:99:153,0,255 . . . 17 8012488 . GCACCTCTCA GCACCTCTCACCTCTCA FRAME_SHIFT ALOXE3 HIGH||-/TGAGAGG|-675*E?|867|ALOXE3|protein_coding|CODING|ENST00000380149|exon_17_8012492_8012661 0/1:99:153,0,255 . . . 17 17697098 rs35068024 AGC A FRAME_SHIFT RAI1 HIGH||-|-256|1862|RAI1|protein_coding|CODING|ENST00000315321|exon_17_17696962_17697486 . . . 0/1:73:70,0,228 17 17697098 rs35068024 AGC A FRAME_SHIFT RAI1 HIGH||-|-279|1640|RAI1|protein_coding|CODING|ENST00000261641|exon_17_17696263_17701056 . . . 0/1:73:70,0,228 17 17697098 rs35068024 AGC A FRAME_SHIFT RAI1 HIGH||-|-279|1906|RAI1|protein_coding|CODING|ENST00000353383|exon_17_17696247_17701827 . . . 0/1:73:70,0,228 17 17697098 rs35068024 AGC A FRAME_SHIFT RAI1 HIGH||-|-279|1993|RAI1|protein_coding|CODING|ENST00000395776|exon_17_17696263_17701827 . . . 0/1:73:70,0,228 17 17697098 rs35068024 AGC A FRAME_SHIFT RAI1 HIGH||-|-279|941|RAI1|protein_coding|CODING|ENST00000395774|exon_17_17696247_17699090 . . . 0/1:73:70,0,228 17 17697098 rs35068024 AGC A FRAME_SHIFT RAI1 HIGH||-|-279|966|RAI1|protein_coding|CODING|ENST00000355970|exon_17_17696263_17699091 . . . 0/1:73:70,0,228 17 18380163 . GGAGAGA GGAGA FRAME_SHIFT LGALS9C HIGH||-|-1|356|LGALS9C|protein_coding|CODING|ENST00000328114|exon_17_18380130_18380207 . . 0/1:99:104,0,212 . 17 34956585 . CCACA CCA SPLICE_SITE_ACCEPTOR DHRS11 HIGH||||260|DHRS11|protein_coding|CODING|ENST00000251312| 0/1:99:255,0,240 0/1:99:255,0,255 . 0/1:99:255,0,220 17 36478478 rs200734868 A C STOP_LOST MRPL45 HIGH|MISSENSE|tgA/tgC|*307C|306|MRPL45|protein_coding|CODING|ENST00000312513|exon_17_36478392_36479101 0/1:99:164,0,183 . . . 17 39183011 . AGGGGGG AGGGGG FRAME_SHIFT KRTAP1-5 HIGH||-|-121|164|KRTAP1-5|protein_coding|CODING|ENST00000543389|exon_17_39182883_39183161 . . . 0/1:69:97,0,66 17 39183011 . AGGGGGG AGGGGG FRAME_SHIFT KRTAP1-5 HIGH||-|-131|174|KRTAP1-5|protein_coding|CODING|ENST00000361883|exon_17_39182278_39183454 . . . 0/1:69:97,0,66 17 39197499 rs3213755 G A STOP_GAINED KRTAP1-1 HIGH|NONSENSE|Cag/Tag|Q41*|167|KRTAP1-1|protein_coding|CODING|ENST00000543328|exon_17_39197116_39197541 0/1:99:177,0,255 . . 0/1:99:167,0,247 17 39197499 rs3213755 G A STOP_GAINED KRTAP1-1 HIGH|NONSENSE|Cag/Tag|Q51*|177|KRTAP1-1|protein_coding|CODING|ENST00000306271|exon_17_39196811_39197713 0/1:99:177,0,255 . . 0/1:99:167,0,247 17 39254247 rs137943557 A T STOP_GAINED KRTAP4-8 HIGH|NONSENSE|tgT/tgA|C30*|155|KRTAP4-8|protein_coding|CODING|ENST00000332991|exon_17_39254124_39254336 . . . 0/1:99:169,0,106 17 39254247 rs137943557 A T STOP_GAINED KRTAP4-8 HIGH|NONSENSE|tgT/tgA|C30*|185|KRTAP4-8|protein_coding|CODING|ENST00000333822|exon_17_39253233_39254393 . . . 0/1:99:169,0,106 17 39346139 rs61743546 A G START_LOST KRTAP9-1 HIGH|MISSENSE|Atg/Gtg|M1V|250|KRTAP9-1|protein_coding|CODING|ENST00000398470|exon_17_39346139_39346891 . 0/1:99:197,0,249 . . 17 39346595 . T TA FRAME_SHIFT KRTAP9-1 HIGH||-/A|-153?|250|KRTAP9-1|protein_coding|CODING|ENST00000398470|exon_17_39346139_39346891 0/1:73:70,0,201 . . . 17 39346595 . T TA FRAME_SHIFT KRTAP9-1 HIGH||-/A|-70?|116|KRTAP9-1|protein_coding|CODING|ENST00000318329|exon_17_39346528_39346621 0/1:73:70,0,201 . . . 17 39551099 rs117612447 C T SPLICE_SITE_DONOR KRT31 HIGH||||416|KRT31|protein_coding|CODING|ENST00000251645| . . . 0/1:99:255,0,158 17 42461954 . C T SPLICE_SITE_ACCEPTOR ITGA2B HIGH||||219|ITGA2B|protein_coding|CODING|ENST00000377068| . . . 0/1:99:218,0,240 17 43923722 . CT C FRAME_SHIFT AC217771.1 HIGH||-|-484|684|AC217771.1|protein_coding|CODING|ENST00000329196|exon_17_43922256_43924438 0/1:99:209,0,220 . . . 17 45447802 rs76299620 G A SPLICE_SITE_ACCEPTOR C17orf57 HIGH|||||C17orf57|processed_transcript|CODING|ENST00000523978| . 0/1:99:255,0,255 . . 17 46115072 . CGG CGGG FRAME_SHIFT COPZ2 HIGH||-/C|-21?|208|COPZ2|protein_coding|CODING|ENST00000006101|exon_17_46115033_46115122 . 1/1:16:82,9,0 . . 17 58094610 . GCCC GCC FRAME_SHIFT AC005702.1 HIGH||-|-29|291|AC005702.1|protein_coding|CODING|ENST00000407042|exon_17_58094540_58094625 . 0/1:83:80,0,115 . . 17 71238491 rs3764365 G A SPLICE_SITE_DONOR C17orf80 HIGH||||583|C17orf80|protein_coding|CODING|ENST00000426147| 0/1:99:255,0,192 . . . 17 77910738 . TG TGTGCG SPLICE_SITE_ACCEPTOR AC100791.1 HIGH|||||AC100791.1|pseudogene|NON_CODING|ENST00000327910| . 0/1:89:101,0,86 . . 17 77910738 . TG TGTGCG SPLICE_SITE_DONOR AC100791.1 HIGH|||||AC100791.1|pseudogene|NON_CODING|ENST00000327910| . 0/1:89:101,0,86 . . 17 78396004 rs41298712 A G SPLICE_SITE_ACCEPTOR ENDOV HIGH||||49|ENDOV|protein_coding|CODING|ENST00000523228| . . . 0/1:99:130,0,206 17 78396004 rs41298712 A G SPLICE_SITE_ACCEPTOR ENDOV HIGH|||||ENDOV|processed_transcript|CODING|ENST00000518644| . . . 0/1:99:130,0,206 17 79279019 . GCCCC GCCCCC FRAME_SHIFT LINC00482 HIGH||-/G|-47?|264|LINC00482|protein_coding|CODING|ENST00000332012|exon_17_79276624_79279162 . 0/1:70:150,0,67 0/1:81:78,0,144 . 18 658170 rs28602966 G T STOP_GAINED C18orf56 HIGH|NONSENSE|taC/taA|Y26*|123|C18orf56|protein_coding|CODING|ENST00000323813|exon_18_657842_658340 . . 0/1:99:199,0,104 0/1:99:206,0,202 18 20714635 rs45627840 G A SPLICE_SITE_DONOR CABLES1 HIGH||||306|CABLES1|protein_coding|CODING|ENST00000400473| . . . 0/1:82:79,0,160 18 25616451 rs1944294 A T STOP_GAINED CDH2 HIGH|NONSENSE|tTg/tAg|L21*|875|CDH2|protein_coding|CODING|ENST00000399380|exon_18_25616434_25616549 0/1:99:255,0,255 1/1:99:255,114,0 . . 18 44635158 . T C SPLICE_SITE_ACCEPTOR HDHD2 HIGH||||259|HDHD2|protein_coding|CODING|ENST00000300605| 0/1:99:225,0,255 . . . 18 66358514 . TAAA TA FRAME_SHIFT TMX3 HIGH||-|-191|197|TMX3|protein_coding|CODING|ENST00000443099|exon_18_66358251_66358598 . . 0/1:99:255,0,255 . 18 74807508 rs56395218 T A SPLICE_SITE_ACCEPTOR MBP HIGH|||||MBP|processed_transcript|CODING|ENST00000497479| 0/1:99:255,0,255 . . . 19 1041352 rs3752229 A G SPLICE_SITE_ACCEPTOR ABCA7 HIGH||||163|ABCA7|protein_coding|CODING|ENST00000524850| . 0/1:99:136,0,244 . . 19 1236080 rs113298601 A G START_LOST C19orf26 HIGH|MISSENSE|aTg/aCg|M1T|447|C19orf26|protein_coding|CODING|ENST00000215376|exon_19_1235995_1236120 0/1:99:119,0,143 . . . 19 1236080 rs113298601 A G START_LOST C19orf26 HIGH|MISSENSE|aTg/aCg|M1T|725|C19orf26|protein_coding|CODING|ENST00000382477|exon_19_1235995_1236120 0/1:99:119,0,143 . . . 19 7705383 rs76937271 CATCTGTGTGTGTGT C FRAME_SHIFT STXBP2 HIGH||-|-195|398|STXBP2|protein_coding|CODING|ENST00000320400|exon_19_7705299_7705695 . 0/1:99:166,0,255 . . 19 8567475 rs968502 T C START_LOST PRAM1 HIGH|MISSENSE|Atg/Gtg|M1V|669|PRAM1|protein_coding|CODING|ENST00000255612|exon_19_8567449_8567495 1/1:39:175,21,0 . 0/1:99:137,0,161 . 19 8567475 rs968502 T C START_LOST PRAM1 HIGH|MISSENSE|Atg/Gtg|M1V|670|PRAM1|protein_coding|CODING|ENST00000423345|exon_19_8567449_8567522 1/1:39:175,21,0 . 0/1:99:137,0,161 . 19 9801440 . TCTCTCCT TCT FRAME_SHIFT ZNF812 HIGH||-|-244|454|ZNF812|protein_coding|CODING|ENST00000457674|exon_19_9800600_9801937 . . 0/1:99:255,0,255 . 19 12187334 rs200818646 G T STOP_GAINED ZNF844 HIGH|NONSENSE|Gaa/Taa|E467*|525|ZNF844|protein_coding|CODING|ENST00000541708|exon_19_12186127_12187505 0/1:99:255,0,255 . . . 19 12187334 rs200818646 G T STOP_GAINED ZNF844 HIGH|NONSENSE|Gaa/Taa|E467*|666|ZNF844|protein_coding|CODING|ENST00000439326|exon_19_12186127_12192380 0/1:99:255,0,255 . . . 19 12224172 rs8109273 T C SPLICE_SITE_DONOR AC022415.1 HIGH||||258|AC022415.1|protein_coding|CODING|ENST00000397759| . . . 0/1:99:255,0,255 19 12540971 rs28559848 T A STOP_LOST ZNF443 HIGH|MISSENSE|tAg/tTg|*644L|643|ZNF443|protein_coding|CODING|ENST00000411622|exon_19_12540698_12541251 0/1:99:247,0,255 0/1:99:252,0,255 . 1/1:99:255,116,0 19 12540971 rs28559848 T A STOP_LOST ZNF443 HIGH|MISSENSE|tAg/tTg|*672L|671|ZNF443|protein_coding|CODING|ENST00000301547|exon_19_12540521_12542794 0/1:99:247,0,255 0/1:99:252,0,255 . 1/1:99:255,116,0 19 16213657 rs143595902 A G SPLICE_SITE_ACCEPTOR TPM4 HIGH||||284|TPM4|protein_coding|CODING|ENST00000538887| 0/1:99:255,0,241 . . . 19 17392630 . GCCCCCC GCCCCCCC FRAME_SHIFT ANKLE1 HIGH||-/C|-24?|439|ANKLE1|protein_coding|CODING|ENST00000433424|exon_19_17392454_17392791 0/1:76:76,0,76 . . . 19 17397456 . GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT SPLICE_SITE_ACCEPTOR ANKLE1 HIGH||||606|ANKLE1|protein_coding|CODING|ENST00000438921| . . 0/1:59:84,0,56 . 19 17397456 . GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT SPLICE_SITE_DONOR ANKLE1 HIGH||||606|ANKLE1|protein_coding|CODING|ENST00000438921| . . 0/1:59:84,0,56 . 19 17397491 . GTGTGTGTGTTTGTGTGTGT GTGTGTGTGT SPLICE_SITE_ACCEPTOR ANKLE1 HIGH||||606|ANKLE1|protein_coding|CODING|ENST00000438921| 0/1:44:158,0,41 . . . 19 17799246 . TGGGGGGG TGGGGGGGG FRAME_SHIFT UNC13A HIGH||-/C|-50?|1791|UNC13A|protein_coding|CODING|ENST00000428389|exon_19_17799180_17799401 . 0/1:6:60,0,3 . . 19 18344273 . ACCCCCCCCC ACCCCCCCC FRAME_SHIFT PDE4C HIGH||-|-16|821|PDE4C|protein_coding|CODING|ENST00000543547|exon_19_18344282_18344481 1/1:64:73,36,0 . . . 19 23328751 . AT ATT FRAME_SHIFT ZNF730 HIGH||-/T|-303?|503|ZNF730|protein_coding|CODING|ENST00000327867|exon_19_23328073_23330017 . 0/1:99:255,0,231 . . 19 33370070 rs745961 A G STOP_LOST CEP89 HIGH|MISSENSE|Tag/Cag|*784Q|783|CEP89|protein_coding|CODING|ENST00000305768|exon_19_33369908_33370284 0/1:99:187,0,112 0/1:99:233,0,125 0/1:82:79,0,255 . 19 35506729 rs2290647 G A SPLICE_SITE_ACCEPTOR GRAMD1A HIGH||||806|GRAMD1A|protein_coding|CODING|ENST00000453966| 0/1:99:211,0,147 . 0/1:99:255,0,187 0/1:88:85,0,255 19 35898796 . TC TCC FRAME_SHIFT AC002511.1 HIGH||-/C|-50?|299|AC002511.1|protein_coding|CODING|ENST00000536898|exon_19_35897487_35900053 . . . 0/1:99:198,0,222 19 41533049 rs8192785 G A STOP_GAINED CYP2A7P1 HIGH|NONSENSE|Cga/Tga|R97*|268|CYP2A7P1|protein_coding|CODING|ENST00000301171|exon_19_41533007_41533169 . 0/1:96:93,0,193 . . 19 41888850 rs138731997 AGGGGACTGGGC A FRAME_SHIFT TMEM91 HIGH||-|-129|132|TMEM91|protein_coding|CODING|ENST00000539627|exon_19_41888677_41889988 . . 0/1:99:108,0,255 . 19 41888850 rs138731997 AGGGGACTGGGC A FRAME_SHIFT TMEM91 HIGH||-|-129|132|TMEM91|protein_coding|CODING|ENST00000542945|exon_19_41888677_41889965 . . 0/1:99:108,0,255 . 19 47885690 rs111565705 C G SPLICE_SITE_ACCEPTOR DHX34 HIGH|||||DHX34|retained_intron|CODING|ENST00000486327| . 0/1:99:209,0,195 . . 19 49436980 rs61742557 T A START_LOST DHDH HIGH|MISSENSE|aTg/aAg|M1K|195|DHDH|protein_coding|CODING|ENST00000523250|exon_19_49436959_49437068 . . 0/1:99:199,0,123 . 19 49436980 rs61742557 T A START_LOST DHDH HIGH|MISSENSE|aTg/aAg|M1K|242|DHDH|protein_coding|CODING|ENST00000522614|exon_19_49436962_49437068 . . 0/1:99:199,0,123 . 19 49436980 rs61742557 T A START_LOST DHDH HIGH|MISSENSE|aTg/aAg|M1K|334|DHDH|protein_coding|CODING|ENST00000221403|exon_19_49436939_49437068 . . 0/1:99:199,0,123 . 19 51228571 . CGCCCAGCCCAGC CGCCCAGCCCAGCCCAGC FRAME_SHIFT CLEC11A HIGH||-/CCAGC|-200P?|245|CLEC11A|protein_coding|CODING|ENST00000445858|exon_19_51228573_51228975 0/1:99:159,0,245 . . . 19 51228571 . CGCCCAGCCCAGC CGCCCAGCCCAGCCCAGC FRAME_SHIFT CLEC11A HIGH||-/CCAGC|-278P?|323|CLEC11A|protein_coding|CODING|ENST00000250340|exon_19_51228279_51228979 0/1:99:159,0,245 . . . 19 51585978 rs117229324 C T SPLICE_SITE_DONOR KLK14 HIGH||||267|KLK14|protein_coding|CODING|ENST00000156499| . 0/1:92:89,0,238 . . 19 51585978 rs117229324 C T SPLICE_SITE_DONOR KLK14 HIGH|||||KLK14|nonsense_mediated_decay|CODING|ENST00000476305| . 0/1:92:89,0,238 . . 19 53117017 rs7248435 T G SPLICE_SITE_DONOR ZNF83 HIGH||||488|ZNF83|protein_coding|CODING|ENST00000434535| . 0/1:83:80,0,242 . . 19 55019261 rs61737751 C T STOP_GAINED LAIR2 HIGH|NONSENSE|Cga/Tga|R58*|76|LAIR2|protein_coding|CODING|ENST00000452094|exon_19_55019106_55019321 . . . 0/1:99:149,0,164 19 55019261 rs61737751 C T STOP_GAINED LAIR2 HIGH|NONSENSE|Cga/Tga|R70*|88|LAIR2|protein_coding|CODING|ENST00000412608|exon_19_55019106_55019321 . . . 0/1:99:149,0,164 19 55019261 rs61737751 C T STOP_GAINED LAIR2 HIGH|NONSENSE|Cga/Tga|R76*|135|LAIR2|protein_coding|CODING|ENST00000351841|exon_19_55019106_55019399 . . . 0/1:99:149,0,164 19 55019261 rs61737751 C T STOP_GAINED LAIR2 HIGH|NONSENSE|Cga/Tga|R76*|152|LAIR2|protein_coding|CODING|ENST00000301202|exon_19_55019106_55019399 . . . 0/1:99:149,0,164 19 55526103 . GCAGACAGACAGACAGACA GCAGACAGACAGACAGACAGACA FRAME_SHIFT GP6 HIGH||-/TGTC|-397C?|620|GP6|protein_coding|CODING|ENST00000310373|exon_19_55525073_55526533 0/1:99:207,0,255 . . . 19 58213743 rs74939505 G A STOP_GAINED ZNF154 HIGH|NONSENSE|Cga/Tga|R192*|437|ZNF154|protein_coding|CODING|ENST00000426889|exon_19_58211811_58214156 . . 0/1:99:255,0,255 . 19 58213743 rs74939505 G A STOP_GAINED ZNF154 HIGH|NONSENSE|Cga/Tga|R192*|437|ZNF154|protein_coding|CODING|ENST00000512439|exon_19_58212606_58214156 . . 0/1:99:255,0,255 . 19 58301766 . TGGG TGG SPLICE_SITE_DONOR ZNF586 HIGH||||63|ZNF586|protein_coding|CODING|ENST00000308137| 0/1:99:179,0,255 1/1:99:255,108,0 . . 19 58301766 . TGGG TGG SPLICE_SITE_DONOR ZNF586 HIGH||||99|ZNF586|protein_coding|CODING|ENST00000430084| 0/1:99:179,0,255 1/1:99:255,108,0 . . 19 58514136 rs200217315 C T STOP_GAINED CTD-2368P22.1.1 HIGH|NONSENSE|Caa/Taa|Q220*|384|CTD-2368P22.1.1|protein_coding|CODING|ENST00000550135|exon_19_58513429_58514414 . 0/1:99:178,0,230 . . 1 11159968 rs17552394 G A SPLICE_SITE_DONOR RP4-635E18.6.1 HIGH|||||RP4-635E18.6.1|antisense|NON_CODING|ENST00000447600| . . 0/1:99:169,0,208 0/1:99:160,0,162 1 11167146 rs12139042 G A STOP_GAINED MTOR HIGH|NONSENSE|Cag/Tag|Q1680*|1728|MTOR|protein_coding|CODING|ENST00000539766|exon_1_11166997_11167181 . . 0/1:99:255,0,255 0/1:99:255,0,223 1 11880420 . T A STOP_GAINED CLCN6 HIGH|NONSENSE|taT/taA|Y116*|122|CLCN6|protein_coding|CODING|ENST00000376497|exon_1_11880419_11880836 0/1:99:119,0,255 . . . 1 12919891 rs75411676 G T STOP_GAINED PRAMEF2 HIGH|NONSENSE|Gaa/Taa|E211*|474|PRAMEF2|protein_coding|CODING|ENST00000240189|exon_1_12919548_12920126 0/1:99:255,0,224 . . . 1 12939546 . CGGGGGG CGGGGGGG FRAME_SHIFT PRAMEF4 HIGH||-/C|-417?|478|PRAMEF4|protein_coding|CODING|ENST00000235349|exon_1_12939045_12939926 . . . 1/1:21:88,12,0 1 16862566 rs77197089 G A STOP_GAINED AL355149.1 HIGH|NONSENSE|tGg/tAg|W96*|131|AL355149.1|protein_coding|CODING|ENST00000357301|exon_1_16862255_16862619 0/1:99:126,0,255 . . . 1 17026516 . C G SPLICE_SITE_ACCEPTOR ESPNP HIGH|||||ESPNP|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000270691| . . . 0/1:99:128,0,241 1 17083816 rs11260920 G A STOP_GAINED MST1P9 HIGH|NONSENSE|Cga/Tga|R661*|689|MST1P9|protein_coding|CODING|ENST00000334998|exon_1_17081603_17083888 . 0/1:65:62,0,157 . . 1 17083816 rs11260920 G A STOP_GAINED MST1P9 HIGH|NONSENSE|Cga/Tga|R687*|715|MST1P9|protein_coding|CODING|ENST00000442552|exon_1_17083727_17083888 . 0/1:65:62,0,157 . . 1 17087459 rs11576695 A G START_LOST MST1P9 HIGH|MISSENSE|aTg/aCg|M1T|15|MST1P9|protein_coding|CODING|ENST00000545160|exon_1_17087450_17087597 0/1:81:78,0,255 . 0/1:63:60,0,255 . 1 17222358 rs58173161 A T SPLICE_SITE_DONOR CROCC HIGH|||||CROCC|processed_transcript|CODING|ENST00000466256| . . . 0/1:80:77,0,202 1 21011623 . G A SPLICE_SITE_ACCEPTOR KIF17 HIGH||||410|KIF17|protein_coding|CODING|ENST00000321188| . 0/1:99:255,0,230 . . 1 21011623 . G A SPLICE_SITE_DONOR KIF17 HIGH||||410|KIF17|protein_coding|CODING|ENST00000321188| . 0/1:99:255,0,230 . . 1 24435018 . GCCGCTCCTCC GCCGCTCCTCCGCTCCTCC FRAME_SHIFT MYOM3 HIGH||-/GGAGGAGC|-33GG?|1214|MYOM3|protein_coding|CODING|ENST00000329601|exon_1_24434966_24435144 0/1:99:110,0,195 . . . 1 24435018 . GCCGCTCCTCC GCCGCTCCTCCGCTCCTCC FRAME_SHIFT MYOM3 HIGH||-/GGAGGAGC|-33GG?|1437|MYOM3|protein_coding|CODING|ENST00000374434|exon_1_24434966_24435144 0/1:99:110,0,195 . . . 1 24435018 . GCCGCTCCTCC GCCGCTCCTCCGCTCCTCC FRAME_SHIFT MYOM3 HIGH||-/GGAGGAGC|-33GG?|1440|MYOM3|protein_coding|CODING|ENST00000330966|exon_1_24434966_24435144 0/1:99:110,0,195 . . . 1 27700455 rs141300199 C T SPLICE_SITE_DONOR FCN3 HIGH||||288|FCN3|protein_coding|CODING|ENST00000354982| . . 0/1:99:255,0,255 . 1 32379996 . CTATTTA CTA FRAME_SHIFT AL136115.1 HIGH||-|-89|105|AL136115.1|protein_coding|CODING|ENST00000391369|exon_1_32379174_32380745 . 1/1:99:255,90,0 . 0/1:99:255,0,255 1 36024287 rs79423278 G T SPLICE_SITE_DONOR NCDN HIGH||||243|NCDN|protein_coding|CODING|ENST00000437806| . . 0/1:99:255,0,248 . 1 38077420 rs201724093 A C SPLICE_SITE_DONOR RSPO1 HIGH||||263|RSPO1|protein_coding|CODING|ENST00000356545| 1/1:10:56,6,0 . . . 1 39796862 . TTTTTTTTTTTA T SPLICE_SITE_ACCEPTOR MACF1 HIGH||||7388|MACF1|protein_coding|CODING|ENST00000372915| . . . 0/1:71:106,0,68 1 39796862 . TTTTTTTTTTTA T SPLICE_SITE_ACCEPTOR MACF1 HIGH|||||MACF1|processed_transcript|CODING|ENST00000528611| . . . 0/1:71:106,0,68 1 40773150 rs12077871 G A STOP_GAINED COL9A2 HIGH|NONSENSE|Cag/Tag|Q326*|689|COL9A2|protein_coding|CODING|ENST00000372748|exon_1_40773118_40773171 0/1:99:176,0,250 . . . 1 45965014 . TA TAA SPLICE_SITE_DONOR CCDC163P HIGH||||164|CCDC163P|protein_coding|CODING|ENST00000488405| 0/1:99:255,0,252 . . . 1 45965014 . TA TAA SPLICE_SITE_DONOR CCDC163P HIGH|||||CCDC163P|processed_transcript|CODING|ENST00000486476| 0/1:99:255,0,252 . . . 1 53326421 rs61744306 A G START_LOST ZYG11A HIGH|MISSENSE|Atg/Gtg|M1V|417|ZYG11A|protein_coding|CODING|ENST00000371532|exon_1_53326403_53326543 0/1:99:161,0,255 . . . 1 55683603 rs10568687 CAAGT C SPLICE_SITE_DONOR RP11-101C11.1.1 HIGH|||||RP11-101C11.1.1|processed_transcript|NON_CODING|ENST00000451250| . 0/1:99:255,0,255 0/1:99:255,0,255 0/1:99:255,0,255 1 57528562 rs141893131 C G SPLICE_SITE_DONOR DAB1 HIGH|||||DAB1|processed_transcript|CODING|ENST00000485760| . 0/1:99:255,0,255 . . 1 60309103 . G T SPLICE_SITE_ACCEPTOR HOOK1 HIGH||||686|HOOK1|protein_coding|CODING|ENST00000395561| . . . 0/1:99:255,0,255 1 87102593 rs41286592 T C SPLICE_SITE_DONOR CLCA3P HIGH|||||CLCA3P|processed_transcript|NON_CODING|ENST00000466454| . . 0/1:99:255,0,255 . 1 87379996 rs101028 G T SPLICE_SITE_DONOR RP4-604K5.1.1 HIGH|||||RP4-604K5.1.1|processed_transcript|CODING|ENST00000469566| . 0/1:99:197,0,158 0/1:99:151,0,255 . 1 92979094 . ATATATATATATATATATATATATATATATGTA ATA SPLICE_SITE_DONOR EVI5 HIGH||||810|EVI5|protein_coding|CODING|ENST00000540033| . 0/1:87:130,0,84 . . 1 93672875 rs202214098 C T STOP_GAINED CCDC18 HIGH|NONSENSE|Cga/Tga|R176*|802|CCDC18|protein_coding|CODING|ENST00000338949|exon_1_93672664_93672955 . 0/1:99:255,0,255 . . 1 93672875 rs202214098 C T STOP_GAINED CCDC18 HIGH|NONSENSE|Cga/Tga|R377*|1299|CCDC18|protein_coding|CODING|ENST00000401026|exon_1_93672664_93672955 . 0/1:99:255,0,255 . . 1 93672875 rs202214098 C T STOP_GAINED CCDC18 HIGH|NONSENSE|Cga/Tga|R377*|1454|CCDC18|protein_coding|CODING|ENST00000343253|exon_1_93672664_93672955 . 0/1:99:255,0,255 . . 1 93672875 rs202214098 C T STOP_GAINED CCDC18 HIGH|NONSENSE|Cga/Tga|R495*|1417|CCDC18|protein_coding|CODING|ENST00000557479|exon_1_93672664_93672955 . 0/1:99:255,0,255 . . 1 93672875 rs202214098 C T STOP_GAINED CCDC18 HIGH|NONSENSE|Cga/Tga|R97*|719|CCDC18|protein_coding|CODING|ENST00000455267|exon_1_93672664_93672955 . 0/1:99:255,0,255 . . 1 121139527 . C A SPLICE_SITE_ACCEPTOR AL358175.1.1 HIGH|||||AL358175.1.1|processed_transcript|NON_CODING|ENST00000429055| 0/1:99:155,0,172 . . . 1 121139527 . C A SPLICE_SITE_ACCEPTOR AL358175.1.1 HIGH|||||AL358175.1.1|processed_transcript|NON_CODING|ENST00000437515| 0/1:99:155,0,172 . . . 1 142619386 rs4847823 G A SPLICE_SITE_ACCEPTOR AL583842.3.1 HIGH|||||AL583842.3.1|processed_transcript|NON_CODING|ENST00000446205| 0/1:99:189,0,255 . . 0/1:54:51,0,255 1 143184897 rs199642834 C T SPLICE_SITE_ACCEPTOR BX571672.2.1 HIGH|||||BX571672.2.1|lincRNA|NON_CODING|ENST00000437267| . . 0/1:71:68,0,213 0/1:55:52,0,187 1 143398428 rs75042706 G A SPLICE_SITE_DONOR BX004987.5.1 HIGH|||||BX004987.5.1|lincRNA|NON_CODING|ENST00000431700| . . 0/1:54:51,0,194 . 1 143467363 . C T SPLICE_SITE_DONOR BX004987.4.1 HIGH|||||BX004987.4.1|processed_transcript|NON_CODING|ENST00000329536| . . . 0/1:91:88,0,242 1 144814705 rs201767679 C T STOP_GAINED NBPF9 HIGH|NONSENSE|Cag/Tag|Q115*|607|NBPF9|protein_coding|CODING|ENST00000440491|exon_1_144814680_144814894 . . . 0/1:99:255,0,100 1 144814705 rs201767679 C T STOP_GAINED NBPF9 HIGH|NONSENSE|Cag/Tag|Q115*|609|NBPF9|protein_coding|CODING|ENST00000338347|exon_1_144814680_144814894 . . . 0/1:99:255,0,100 1 145074975 rs56128713 G A STOP_GAINED PDE4DIP HIGH|NONSENSE|Cga/Tga|R107*|109|PDE4DIP|protein_coding|CODING|ENST00000369345|exon_1_145074825_145075060 0/1:99:255,0,255 0/1:99:97,0,255 0/1:99:147,0,255 . 1 145586671 rs201063949 CTTTTA C FRAME_SHIFT NUDT17 HIGH||-|-300|328|NUDT17|protein_coding|CODING|ENST00000334513|exon_1_145586115_145586691 . . 0/1:99:122,0,255 . 1 148933289 rs9729175 A G SPLICE_SITE_ACCEPTOR RP11-14N7.2.1 HIGH|||||RP11-14N7.2.1|lincRNA|NON_CODING|ENST00000294715| . 0/1:87:84,0,184 . . 1 148933289 rs9729175 A G SPLICE_SITE_ACCEPTOR RP11-14N7.2.1 HIGH|||||RP11-14N7.2.1|lincRNA|NON_CODING|ENST00000457390| . 0/1:87:84,0,184 . . 1 150235236 . ATT AT FRAME_SHIFT CA14 HIGH||-|-177|337|CA14|protein_coding|CODING|ENST00000369111|exon_1_150235203_150235269 . . . 0/1:99:255,0,255 1 152285751 . ATTT ATT FRAME_SHIFT FLG HIGH||-|-536|4061|FLG|protein_coding|CODING|ENST00000368799|exon_1_152274651_152287223 . . 0/1:99:162,0,155 . 1 152285751 . ATTT ATT FRAME_SHIFT FLG HIGH||-|-68|321|FLG|protein_coding|CODING|ENST00000392689|exon_1_152285556_152285957 . . 0/1:99:162,0,155 . 1 152323132 rs12568784 G T STOP_GAINED FLG2 HIGH|NONSENSE|tCa/tAa|S2377*|2391|FLG2|protein_coding|CODING|ENST00000388718|exon_1_152321213_152330123 1/1:99:255,96,0 0/1:99:255,0,255 . . 1 156344378 . ATTTTTTTTTTTTTTTTT ATTTTTTTTTTTTTTTTTTT SPLICE_SITE_ACCEPTOR RHBG HIGH||||409|RHBG|protein_coding|CODING|ENST00000400992| . . 1/1:42:70,23,0 . 1 156819095 . G A STOP_GAINED INSRR HIGH|NONSENSE|Cga/Tga|R463*|1297|INSRR|protein_coding|CODING|ENST00000368195|exon_1_156819038_156819252 . . . 0/1:86:163,0,83 1 159785413 rs61823162 C T STOP_GAINED FCRL6 HIGH|NONSENSE|Caa/Taa|Q423*|434|FCRL6|protein_coding|CODING|ENST00000368106|exon_1_159785326_159785451 . . . 0/1:99:220,0,255 1 161565381 rs76277413 A G SPLICE_SITE_DONOR FCGR2C HIGH|||||FCGR2C|polymorphic_pseudogene|CODING|ENST00000466542| 0/1:99:253,0,226 . . . 1 166591271 rs17472444 T C SPLICE_SITE_DONOR FMO9P HIGH|||||FMO9P|unitary_pseudogene|NON_CODING|ENST00000488458| 0/1:99:255,0,255 . . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|484|SELE|protein_coding|CODING|ENST00000367774|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|484|SELE|protein_coding|CODING|ENST00000367779|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|485|SELE|protein_coding|CODING|ENST00000367775|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|485|SELE|protein_coding|CODING|ENST00000367780|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|547|SELE|protein_coding|CODING|ENST00000367776|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|547|SELE|protein_coding|CODING|ENST00000367777|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|547|SELE|protein_coding|CODING|ENST00000367781|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|547|SELE|protein_coding|CODING|ENST00000367782|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 169701965 . C T STOP_GAINED SELE HIGH|NONSENSE|tGg/tAg|W71*|610|SELE|protein_coding|CODING|ENST00000333360|exon_1_169701756_169702139 . 0/1:99:255,0,255 . . 1 173020073 rs185993550 A T STOP_GAINED TNFSF18 HIGH|NONSENSE|tgT/tgA|C10*|199|TNFSF18|protein_coding|CODING|ENST00000404377|exon_1_173019881_173020103 . . 0/1:99:255,0,246 . 1 202148033 rs56743821 T G SPLICE_SITE_DONOR PTPRVP HIGH|||||PTPRVP|unitary_pseudogene|NON_CODING|ENST00000490225| 0/1:99:255,0,178 . . . 1 202183357 rs74355478 TG T FRAME_SHIFT LGR6 HIGH||-|-26|828|LGR6|protein_coding|CODING|ENST00000439764|exon_1_202183283_202183365 0/1:99:114,0,201 . 0/1:99:220,0,151 . 1 207532882 . A T SPLICE_SITE_ACCEPTOR CD55 HIGH||||317|CD55|protein_coding|CODING|ENST00000536840| 0/1:88:85,0,224 . . . 1 207532883 . A T SPLICE_SITE_ACCEPTOR CD55 HIGH||||317|CD55|protein_coding|CODING|ENST00000536840| 0/1:55:52,0,200 . . . 1 210440009 . G A SPLICE_SITE_DONOR ST13P19 HIGH|||||ST13P19|processed_pseudogene|NON_CODING|ENST00000442505| 0/1:78:75,0,179 . . . 1 225328430 . TAGAGAGAGA TAGAGAGAGAGA FRAME_SHIFT DNAH14 HIGH||-/GA|-1392?|4515|DNAH14|protein_coding|CODING|ENST00000430092|exon_1_225328433_225328723 . . . 0/1:99:255,0,255 1 225328430 . TAGAGAGAGA TAGAGAGAGAGA FRAME_SHIFT DNAH14 HIGH||-/GA|-1392?|4515|DNAH14|protein_coding|CODING|ENST00000439375|exon_1_225328433_225328723 . . . 0/1:99:255,0,255 1 228391808 rs11800309 G T STOP_GAINED C1orf145 HIGH|NONSENSE|taC/taA|Y96*|113|C1orf145|protein_coding|CODING|ENST00000295012|exon_1_228391207_228391856 1/1:99:255,90,0 0/1:99:255,0,225 . . 1 230395511 rs143506343 T C SPLICE_SITE_ACCEPTOR RP5-956O18.2.1 HIGH|||||RP5-956O18.2.1|antisense|NON_CODING|ENST00000440729| . . 0/1:99:255,0,255 . 1 238644983 . T G SPLICE_SITE_ACCEPTOR RP11-371I1.2.1 HIGH|||||RP11-371I1.2.1|processed_transcript|NON_CODING|ENST00000400946| 0/1:99:130,0,216 . . . 1 242042500 . AG A FRAME_SHIFT EXO1 HIGH||-|-655|803|EXO1|protein_coding|CODING|ENST00000518483|exon_1_242042051_242042645 . . . 0/1:99:241,0,255 1 242042500 . AG A FRAME_SHIFT EXO1 HIGH||-|-655|846|EXO1|protein_coding|CODING|ENST00000348581|exon_1_242042051_242042645 . . . 0/1:99:241,0,255 1 242042500 . AG A FRAME_SHIFT EXO1 HIGH||-|-655|846|EXO1|protein_coding|CODING|ENST00000366548|exon_1_242042051_242042645 . . . 0/1:99:241,0,255 1 245285197 . CTTATTTTATTTTATTTTATTTTA CTTATTTTATTTTATTTTATTTTATTTTA SPLICE_SITE_ACCEPTOR EFCAB2 HIGH||||133|EFCAB2|protein_coding|CODING|ENST00000447569| . . 0/1:99:183,0,255 . 1 245285197 . CTTATTTTATTTTATTTTATTTTA CTTATTTTATTTTATTTTATTTTATTTTA SPLICE_SITE_ACCEPTOR EFCAB2 HIGH||||269|EFCAB2|protein_coding|CODING|ENST00000366522| . . 0/1:99:183,0,255 . 1 245285197 . CTTATTTTATTTTATTTTATTTTA CTTATTTTATTTTATTTTATTTTATTTTA SPLICE_SITE_ACCEPTOR EFCAB2 HIGH|||||EFCAB2|processed_transcript|CODING|ENST00000479923| . . 0/1:99:183,0,255 . 1 245285197 . CTTATTTTATTTTATTTTATTTTA CTTATTTTATTTTATTTTATTTTATTTTA SPLICE_SITE_ACCEPTOR EFCAB2 HIGH|||||EFCAB2|processed_transcript|CODING|ENST00000487845| . . 0/1:99:183,0,255 . 1 247007232 rs148600466 T A SPLICE_SITE_ACCEPTOR AHCTF1 HIGH|||||AHCTF1|processed_transcript|CODING|ENST00000470300| . 0/1:99:255,0,255 . . 1 248059779 . GAA GAAA FRAME_SHIFT OR2W3 HIGH||-/A|-298?|314|OR2W3|protein_coding|CODING|ENST00000360358|exon_1_248058889_248059833 . . 1/1:99:255,90,0 . 1 248059779 . GAA GAAA FRAME_SHIFT OR2W3 HIGH||-/A|-298?|314|OR2W3|protein_coding|CODING|ENST00000537741|exon_1_248058859_248060449 . . 1/1:99:255,90,0 . 1 248247745 . GCC GC SPLICE_SITE_DONOR RP11-132G10.2.1 HIGH|||||RP11-132G10.2.1|pseudogene|NON_CODING|ENST00000356294| 0/1:79:76,0,255 . . . 1 248525328 rs61248663 C CTA FRAME_SHIFT OR2T4 HIGH||-/TA|-149?|348|OR2T4|protein_coding|CODING|ENST00000366475|exon_1_248524883_248525929 0/1:99:112,0,255 . 0/1:99:161,0,201 . 1 248616704 . CTGCTGCGTGCTG CTGCTG FRAME_SHIFT OR2T2 HIGH||-|-204|324|OR2T2|protein_coding|CODING|ENST00000342927|exon_1_248616077_248617130 . . 0/1:65:157,0,62 . 20 3091365 rs111487766 T C SPLICE_SITE_DONOR RP5-1187M17.7.1 HIGH|||||RP5-1187M17.7.1|processed_transcript|NON_CODING|ENST00000446537| . 0/1:99:175,0,207 . . 20 3091365 rs111487766 T C SPLICE_SITE_DONOR RP5-1187M17.7.1 HIGH|||||RP5-1187M17.7.1|processed_transcript|NON_CODING|ENST00000454019| . 0/1:99:175,0,207 . . 20 3649632 . ATCTGGACTT AT FRAME_SHIFT ADAM33 HIGH||-|-683|692|ADAM33|protein_coding|CODING|ENST00000439201|exon_20_3649229_3649644 . . 0/1:99:144,0,255 . 20 3649632 . ATCTGGACTT AT FRAME_SHIFT ADAM33 HIGH||-|-778|787|ADAM33|protein_coding|CODING|ENST00000350009|exon_20_3648621_3649647 . . 0/1:99:144,0,255 . 20 3649632 . ATCTGGACTT AT FRAME_SHIFT ADAM33 HIGH||-|-803|812|ADAM33|protein_coding|CODING|ENST00000379861|exon_20_3648617_3649644 . . 0/1:99:144,0,255 . 20 3649632 . ATCTGGACTT AT FRAME_SHIFT ADAM33 HIGH||-|-804|813|ADAM33|protein_coding|CODING|ENST00000356518|exon_20_3648617_3649647 . . 0/1:99:144,0,255 . 20 5932695 . C T STOP_GAINED MCM8 HIGH|NONSENSE|Cga/Tga|R12*|203|MCM8|protein_coding|CODING|ENST00000399350|exon_20_5932657_5932809 . . . 0/1:99:255,0,255 20 5932695 . C T STOP_GAINED MCM8 HIGH|NONSENSE|Cga/Tga|R12*|793|MCM8|protein_coding|CODING|ENST00000378883|exon_20_5932657_5932809 . . . 0/1:99:255,0,255 20 5932695 . C T STOP_GAINED MCM8 HIGH|NONSENSE|Cga/Tga|R12*|824|MCM8|protein_coding|CODING|ENST00000265187|exon_20_5932657_5932809 . . . 0/1:99:255,0,255 20 5932695 . C T STOP_GAINED MCM8 HIGH|NONSENSE|Cga/Tga|R12*|840|MCM8|protein_coding|CODING|ENST00000378896|exon_20_5932657_5932809 . . . 0/1:99:255,0,255 20 5932695 . C T STOP_GAINED MCM8 HIGH|NONSENSE|Cga/Tga|R12*|880|MCM8|protein_coding|CODING|ENST00000378886|exon_20_5932657_5932809 . . . 0/1:99:255,0,255 20 12901275 rs3908399 G A SPLICE_SITE_DONOR RP5-1069C8.2.1 HIGH|||||RP5-1069C8.2.1|lincRNA|NON_CODING|ENST00000456265| 0/1:99:255,0,253 . . 0/1:99:255,0,240 20 18119089 rs116884076 G T SPLICE_SITE_DONOR CSRP2BP HIGH||||55|CSRP2BP|protein_coding|CODING|ENST00000464792| 0/1:99:246,0,218 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-376?|385|CPNE1|protein_coding|CODING|ENST00000430570|exon_20_34215207_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-400?|481|CPNE1|protein_coding|CODING|ENST00000397442|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-400?|532|CPNE1|protein_coding|CODING|ENST00000437340|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-400?|537|CPNE1|protein_coding|CODING|ENST00000317619|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-400?|537|CPNE1|protein_coding|CODING|ENST00000352393|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-400?|537|CPNE1|protein_coding|CODING|ENST00000397443|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-400?|537|CPNE1|protein_coding|CODING|ENST00000397445|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-400?|537|CPNE1|protein_coding|CODING|ENST00000397446|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 34215234 . CAAA CAAAA FRAME_SHIFT CPNE1 HIGH||-/T|-405?|542|CPNE1|protein_coding|CODING|ENST00000317677|exon_20_34215202_34215335 0/1:99:186,0,154 . . . 20 42440791 . TC TCTCAC SPLICE_SITE_ACCEPTOR RP5-1030M6.2.1 HIGH|||||RP5-1030M6.2.1|lincRNA|NON_CODING|ENST00000446932| . . 0/1:22:255,0,19 . 20 47775012 . ATT AT FRAME_SHIFT STAU1 HIGH||-|-14|128|STAU1|protein_coding|CODING|ENST00000456866|exon_20_47774970_47775034 . 0/1:99:251,0,255 . . 20 48429462 rs76846045 G T START_LOST SLC9A8 HIGH|MISSENSE|atG/atT|M1I|581|SLC9A8|protein_coding|CODING|ENST00000361573|exon_20_48429418_48429485 . . 0/1:99:165,0,111 . 20 48429462 rs76846045 G T START_LOST SLC9A8 HIGH|MISSENSE|atG/atT|M1I|597|SLC9A8|protein_coding|CODING|ENST00000417961|exon_20_48429250_48429485 . . 0/1:99:165,0,111 . 20 53691331 . CGG CGGG SPLICE_SITE_ACCEPTOR RPL12P4 HIGH|||||RPL12P4|pseudogene|NON_CODING|ENST00000393148| . 0/1:74:71,0,160 . . 20 53691331 . CGG CGGG SPLICE_SITE_DONOR RPL12P4 HIGH|||||RPL12P4|pseudogene|NON_CODING|ENST00000393148| . 0/1:74:71,0,160 . . 20 57343808 rs55668645 C T SPLICE_SITE_DONOR PIEZO1P2 HIGH|||||PIEZO1P2|unprocessed_pseudogene|NON_CODING|ENST00000416241| . . 0/1:99:222,0,255 . 20 61986949 rs2273500 T C SPLICE_SITE_ACCEPTOR CHRNA4 HIGH||||556|CHRNA4|protein_coding|CODING|ENST00000539366| . . . 0/1:99:185,0,182 21 14421285 rs7509712 G A SPLICE_SITE_ACCEPTOR ANKRD30BP2 HIGH|||||ANKRD30BP2|processed_transcript|NON_CODING|ENST00000471407| . 0/1:99:240,0,255 . . 21 15726002 rs13048016 G A SPLICE_SITE_DONOR ABCC13 HIGH|||||ABCC13|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000463099| . . 1/1:99:255,120,0 . 21 30968865 . A T STOP_GAINED GRIK1 HIGH|NONSENSE|tTg/tAg|L411*|871|GRIK1|protein_coding|CODING|ENST00000389124|exon_21_30968846_30968890 . . . 0/1:99:255,0,255 21 30968865 . A T STOP_GAINED GRIK1 HIGH|NONSENSE|tTg/tAg|L411*|918|GRIK1|protein_coding|CODING|ENST00000399907|exon_21_30968846_30968890 . . . 0/1:99:255,0,255 21 30968865 . A T STOP_GAINED GRIK1 HIGH|NONSENSE|tTg/tAg|L411*|920|GRIK1|protein_coding|CODING|ENST00000399913|exon_21_30968846_30968890 . . . 0/1:99:255,0,255 21 30968865 . A T STOP_GAINED GRIK1 HIGH|NONSENSE|tTg/tAg|L411*|949|GRIK1|protein_coding|CODING|ENST00000327783|exon_21_30968846_30968890 . . . 0/1:99:255,0,255 21 30968865 . A T STOP_GAINED GRIK1 HIGH|NONSENSE|tTg/tAg|L413*|920|GRIK1|protein_coding|CODING|ENST00000309434|exon_21_30968846_30968890 . . . 0/1:99:255,0,255 21 30968865 . A T STOP_GAINED GRIK1 HIGH|NONSENSE|tTg/tAg|L413*|922|GRIK1|protein_coding|CODING|ENST00000535441|exon_21_30968846_30968890 . . . 0/1:99:255,0,255 21 33984567 . AGGTACTGAGGCGTTGAGAAGGCCCCGGCTGCGTGGCCCGCGGGT AGGT SPLICE_SITE_ACCEPTOR C21orf59 HIGH||||245|C21orf59|protein_coding|CODING|ENST00000543202| . . 0/1:99:134,0,255 . 21 33984567 . AGGTACTGAGGCGTTGAGAAGGCCCCGGCTGCGTGGCCCGCGGGT AGGT SPLICE_SITE_DONOR C21orf59 HIGH||||245|C21orf59|protein_coding|CODING|ENST00000543202| . . 0/1:99:134,0,255 . 21 37747607 rs1063308 G A SPLICE_SITE_DONOR MORC3 HIGH|||||MORC3|nonsense_mediated_decay|CODING|ENST00000546482| . 0/1:99:255,0,255 . . 21 47545369 . ACCCCCCC ACCCCCCCC FRAME_SHIFT COL6A2 HIGH||-/C|-162?|249|COL6A2|protein_coding|CODING|ENST00000413758|exon_21_47545331_47545531 . 0/1:28:65,0,25 . . 21 47545369 . ACCCCCCC ACCCCCCCC SPLICE_SITE_ACCEPTOR COL6A2 HIGH||||828|COL6A2|protein_coding|CODING|ENST00000409416| . 0/1:28:65,0,25 . . 21 47612783 . AT ATGT FRAME_SHIFT AP001468.1 HIGH||-/AC|-176?|308|AP001468.1|protein_coding|CODING|ENST00000424538|exon_21_47612445_47613179 0/1:99:255,0,255 . . . 21 47613646 . ATGTGTGTG ATGTGTG FRAME_SHIFT AP001468.1 HIGH||-|-7|308|AP001468.1|protein_coding|CODING|ENST00000424538|exon_21_47613541_47613673 . . 0/1:99:108,0,255 . 22 16228164 . G C SPLICE_SITE_ACCEPTOR GRAMD4P2 HIGH|||||GRAMD4P2|processed_pseudogene|NON_CODING|ENST00000423297| . 0/1:70:67,0,147 . . 22 18222868 . GGCCACGCTCAACTGCCACGCTC GGCCACGCTC FRAME_SHIFT BID HIGH||-|-92|137|BID|protein_coding|CODING|ENST00000342111|exon_22_18222848_18222942 0/1:99:197,0,255 . . 0/1:86:83,0,255 22 18912677 rs11913840 C T STOP_GAINED PRODH HIGH|NONSENSE|tGg/tAg|W185*|600|PRODH|protein_coding|CODING|ENST00000357068|exon_22_18912564_18912713 . . . 0/1:99:173,0,255 22 18912677 rs11913840 C T STOP_GAINED PRODH HIGH|NONSENSE|tGg/tAg|W26*|134|PRODH|protein_coding|CODING|ENST00000450579|exon_22_18912564_18912713 . . . 0/1:99:173,0,255 22 19435962 rs149217901 CAG C SPLICE_SITE_ACCEPTOR AC000068.5.1 HIGH|||||AC000068.5.1|processed_transcript|NON_CODING|ENST00000431090| 0/1:99:255,0,255 0/1:99:255,0,255 . . 22 23776919 . T C SPLICE_SITE_DONOR AP000344.3.1 HIGH|||||AP000344.3.1|lincRNA|NON_CODING|ENST00000449711| . . 0/1:99:133,0,153 . 22 32589204 . TAAAAAAA TAAAAAA FRAME_SHIFT RFPL2 HIGH||-|-17|317|RFPL2|protein_coding|CODING|ENST00000248980|exon_22_32588889_32589466 . . . 0/1:54:60,0,52 22 36597744 rs9610445 A C SPLICE_SITE_DONOR APOL4 HIGH||||127|APOL4|protein_coding|CODING|ENST00000405511| . . 0/1:99:137,0,121 . 22 36597744 rs9610445 A C SPLICE_SITE_DONOR APOL4 HIGH||||127|APOL4|protein_coding|CODING|ENST00000429038| . . 0/1:99:137,0,121 . 22 36597744 rs9610445 A C SPLICE_SITE_DONOR APOL4 HIGH||||59|APOL4|protein_coding|CODING|ENST00000449084| . . 0/1:99:137,0,121 . 22 36597744 rs9610445 A C SPLICE_SITE_DONOR APOL4 HIGH||||63|APOL4|protein_coding|CODING|ENST00000419360| . . 0/1:99:137,0,121 . 22 36597744 rs9610445 A C SPLICE_SITE_DONOR APOL4 HIGH||||71|APOL4|protein_coding|CODING|ENST00000457630| . . 0/1:99:137,0,121 . 22 36597744 rs9610445 A C SPLICE_SITE_DONOR APOL4 HIGH|||||APOL4|nonsense_mediated_decay|CODING|ENST00000493203| . . 0/1:99:137,0,121 . 22 36598081 rs6000181 A T START_LOST APOL4 HIGH|MISSENSE|aTg/aAg|M1K|130|APOL4|protein_coding|CODING|ENST00000404685|exon_22_36598039_36598101 . . 0/1:99:207,0,105 . 22 36598081 rs6000181 A T START_LOST APOL4 HIGH|MISSENSE|aTg/aAg|M1K|350|APOL4|protein_coding|CODING|ENST00000352371|exon_22_36598039_36598101 . . 0/1:99:207,0,105 . 22 42972515 . TA TAA SPLICE_SITE_DONOR RP1-222E13.10.1 HIGH|||||RP1-222E13.10.1|processed_transcript|NON_CODING|ENST00000437211| . 0/1:99:134,0,136 . . 22 50875908 . GTCCCTCCCTCCCTCCCTCCCTCCC GTCCCTCCCTCCCTCCCTCCCTCCCTCCC SPLICE_SITE_ACCEPTOR PPP6R2 HIGH||||933|PPP6R2|protein_coding|CODING|ENST00000395741| . . 0/1:88:85,0,110 . 2 1206366 rs7579340 G T SPLICE_SITE_DONOR SNTG2 HIGH|||||SNTG2|processed_transcript|CODING|ENST00000498321| 0/1:99:255,0,244 . . . 2 1266723 rs13015473 T G SPLICE_SITE_DONOR SNTG2 HIGH|||||SNTG2|processed_transcript|CODING|ENST00000471239| 1/1:99:255,81,0 1/1:99:255,111,0 . 0/1:99:255,0,197 2 6113562 rs4395236 G A SPLICE_SITE_DONOR AC073479.1.1 HIGH|||||AC073479.1.1|lincRNA|NON_CODING|ENST00000456327| 0/1:99:234,0,158 . . . 2 14775299 . GAAA GAA FRAME_SHIFT FAM84A HIGH||-|-345|355|FAM84A|protein_coding|CODING|ENST00000359969|exon_2_14774702_14775337 . 0/1:99:184,0,220 . . 2 47641558 . GTAAAA GAA SPLICE_SITE_DONOR MSH2 HIGH||||168|MSH2|protein_coding|CODING|ENST00000422810| . . . 0/1:94:91,0,128 2 47641558 . GTAAAA GAA SPLICE_SITE_DONOR MSH2 HIGH||||485|MSH2|protein_coding|CODING|ENST00000453755| . . . 0/1:94:91,0,128 2 52722976 rs17043033 T A SPLICE_SITE_ACCEPTOR AC139712.4.1 HIGH|||||AC139712.4.1|lincRNA|NON_CODING|ENST00000443926| . . . 0/1:99:228,0,255 2 60780421 . GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG SPLICE_SITE_DONOR BCL11A HIGH||||798|BCL11A|protein_coding|CODING|ENST00000378117| . 0/1:71:68,0,133 . . 2 61361325 . TGG TG FRAME_SHIFT KIAA1841 HIGH||-|-695|707|KIAA1841|protein_coding|CODING|ENST00000295031|exon_2_61361272_61361411 . 0/1:99:223,0,255 . . 2 62998500 . CAAA CA FRAME_SHIFT EHBP1 HIGH||-|-64|107|EHBP1|protein_coding|CODING|ENST00000413434|exon_2_62998474_62998527 . 0/1:99:255,0,255 . . 2 62998500 . CAAA CA FRAME_SHIFT EHBP1 HIGH||-|-96|1160|EHBP1|protein_coding|CODING|ENST00000405015|exon_2_62998474_62998527 . 0/1:99:255,0,255 . . 2 62998500 . CAAA CA FRAME_SHIFT EHBP1 HIGH||-|-96|1160|EHBP1|protein_coding|CODING|ENST00000431489|exon_2_62998474_62998527 . 0/1:99:255,0,255 . . 2 62998500 . CAAA CA FRAME_SHIFT EHBP1 HIGH||-|-96|1196|EHBP1|protein_coding|CODING|ENST00000354487|exon_2_62998474_62998527 . 0/1:99:255,0,255 . . 2 62998500 . CAAA CA FRAME_SHIFT EHBP1 HIGH||-|-96|1196|EHBP1|protein_coding|CODING|ENST00000405289|exon_2_62998474_62998527 . 0/1:99:255,0,255 . . 2 62998500 . CAAA CA FRAME_SHIFT EHBP1 HIGH||-|-96|1231|EHBP1|protein_coding|CODING|ENST00000263991|exon_2_62998474_62998527 . 0/1:99:255,0,255 . . 2 62998500 . CAAA CA FRAME_SHIFT EHBP1 HIGH||-|-96|309|EHBP1|protein_coding|CODING|ENST00000405482|exon_2_62998474_62998527 . 0/1:99:255,0,255 . . 2 68805142 . GAAAA GAAA FRAME_SHIFT APLF HIGH||-|-510|511|APLF|protein_coding|CODING|ENST00000303795|exon_2_68804952_68807294 0/1:99:125,0,192 . . . 2 73899435 rs187736652 G A SPLICE_SITE_ACCEPTOR ALMS1P HIGH|||||ALMS1P|processed_transcript|NON_CODING|ENST00000450720| 0/1:99:255,0,255 . . . 2 79547097 rs7609047 A T SPLICE_SITE_ACCEPTOR CTNNA2 HIGH|||||CTNNA2|processed_transcript|CODING|ENST00000497804| 0/1:99:255,0,255 . 0/1:99:255,0,255 0/1:99:255,0,255 2 85876139 rs112653307 G C SPLICE_SITE_ACCEPTOR USP39 HIGH||||536|USP39|protein_coding|CODING|ENST00000409025| . . 0/1:99:255,0,255 . 2 85876139 rs112653307 G C SPLICE_SITE_ACCEPTOR USP39 HIGH||||565|USP39|protein_coding|CODING|ENST00000409470| . . 0/1:99:255,0,255 . 2 86304934 . GCACACACACACACACACACACACACACACACACACACACACACACAC GCACACACACACACACACACACACACACACACACACACAC,GCACACACACACACACACACACACACACACAC,GCACACACACACACACACACACACACACACACACACAC SPLICE_SITE_DONOR POLR1A HIGH||||1720|POLR1A|protein_coding|CODING|ENST00000263857| . . 1/1:57:207,46,16,.,.,.,179,0,.,173 2/2:33:140,.,.,18,.,0,.,.,.,. 2 96610395 . CAAA CAAAA FRAME_SHIFT ANKRD36C HIGH||-/T|-489?|1778|ANKRD36C|protein_coding|CODING|ENST00000456556|exon_2_96610375_96610442 0/1:80:77,0,255 . . . 2 97779487 rs141447363 GC G FRAME_SHIFT ANKRD36 HIGH||-|-4|161|ANKRD36|protein_coding|CODING|ENST00000289105|exon_2_97779289_97779673 . . . 1/1:87:255,45,0 2 97779487 rs141447363 GC G FRAME_SHIFT ANKRD36 HIGH||-|-4|1941|ANKRD36|protein_coding|CODING|ENST00000420699|exon_2_97779233_97779673 . . . 1/1:87:255,45,0 2 97779487 rs141447363 GC G FRAME_SHIFT ANKRD36 HIGH||-|-4|1941|ANKRD36|protein_coding|CODING|ENST00000461153|exon_2_97779233_97779673 . . . 1/1:87:255,45,0 2 97779487 rs141447363 GC G FRAME_SHIFT ANKRD36 HIGH||-|-4|309|ANKRD36|protein_coding|CODING|ENST00000455519|exon_2_97779394_97779673 . . . 1/1:87:255,45,0 2 97779487 rs141447363 GC G FRAME_SHIFT ANKRD36 HIGH||-|-4|345|ANKRD36|protein_coding|CODING|ENST00000393513|exon_2_97779233_97779673 . . . 1/1:87:255,45,0 2 98779439 rs62154921 G T STOP_GAINED VWA3B HIGH|NONSENSE|Gag/Tag|E222*|475|VWA3B|protein_coding|CODING|ENST00000451075|exon_2_98779314_98779439 . 0/1:99:255,0,143 0/1:99:240,0,194 . 2 98779439 rs62154921 G T STOP_GAINED VWA3B HIGH|NONSENSE|Gag/Tag|E372*|1294|VWA3B|protein_coding|CODING|ENST00000477737|exon_2_98779314_98779439 . 0/1:99:255,0,143 0/1:99:240,0,194 . 2 98779439 rs62154921 G T STOP_GAINED VWA3B HIGH|NONSENSE|Gag/Tag|E372*|624|VWA3B|protein_coding|CODING|ENST00000435344|exon_2_98779314_98779439 . 0/1:99:255,0,143 0/1:99:240,0,194 . 2 102686276 rs17766454 T G SPLICE_SITE_DONOR IL1R1 HIGH||||79|IL1R1|protein_coding|CODING|ENST00000452403| . . . 0/1:99:255,0,179 2 109404474 . CTTTTTTTTTTT CTTTTTTTTTTTT SPLICE_SITE_ACCEPTOR CCDC138 HIGH||||577|CCDC138|protein_coding|CODING|ENST00000412964| . 1/1:97:75,66,0 . . 2 113191010 rs13021601 A C START_LOST RGPD8 HIGH|MISSENSE|aTg/aGg|M1R|151|RGPD8|protein_coding|CODING|ENST00000496537|exon_2_113190959_113191096 0/1:90:88,0,95 . . . 2 165657066 rs62173958 T C SPLICE_SITE_ACCEPTOR COBLL1 HIGH||||1233|COBLL1|protein_coding|CODING|ENST00000194871| 0/1:99:255,0,255 . . 0/1:99:255,0,198 2 168041152 rs16853169 T C SPLICE_SITE_DONOR XIRP2 HIGH||||971|XIRP2|protein_coding|CODING|ENST00000420519| . 0/1:99:255,0,255 . . 2 170624221 rs2114646 C T SPLICE_SITE_DONOR AC009967.6.1 HIGH|||||AC009967.6.1|processed_pseudogene|NON_CODING|ENST00000424937| . . 0/1:99:248,0,255 . 2 196397969 rs16837006 T C SPLICE_SITE_DONOR AC064834.2.1 HIGH|||||AC064834.2.1|lincRNA|NON_CODING|ENST00000452381| . 0/1:99:255,0,255 . . 2 198381450 . GTTTT GTTT FRAME_SHIFT HSPD1 HIGH||-|-2|174|HSPD1|protein_coding|CODING|ENST00000426480|exon_2_198381334_198381461 . . 0/1:99:151,0,195 . 2 206641239 . TCGCAC TC FRAME_SHIFT NRP2 HIGH||-|-899|901|NRP2|protein_coding|CODING|ENST00000357118|exon_2_206640970_206641880 0/1:99:135,0,255 . 0/1:99:127,0,255 . 2 206641239 . TCGCAC TC FRAME_SHIFT NRP2 HIGH||-|-904|906|NRP2|protein_coding|CODING|ENST00000272849|exon_2_206640970_206641880 0/1:99:135,0,255 . 0/1:99:127,0,255 . 2 220521299 . GACAGAGAAACATGAAAAA GA SPLICE_SITE_ACCEPTOR DNPEP HIGH||||378|DNPEP|protein_coding|CODING|ENST00000535056| . . 0/1:99:175,0,255 . 2 233422237 rs1190441 A G SPLICE_SITE_ACCEPTOR EIF4E2 HIGH|||||EIF4E2|processed_transcript|CODING|ENST00000479834| . . 0/1:99:255,0,255 0/1:99:230,0,255 2 236761414 . CCAGG CCAGGCAGG FRAME_SHIFT AGAP1 HIGH||-/CAGG|-380Q?|405|AGAP1|protein_coding|CODING|ENST00000409457|exon_2_236761330_236761846 . 0/1:99:255,0,255 0/1:99:255,0,255 . 3 7732725 rs200060674 GA G SPLICE_SITE_ACCEPTOR GRM7 HIGH||||924|GRM7|protein_coding|CODING|ENST00000525747| 1/1:99:255,81,0 . . . 3 30819655 . TTTACTTATTACTTA TTTACTTA SPLICE_SITE_DONOR GADL1 HIGH|||||GADL1|processed_transcript|CODING|ENST00000498387| . . . 0/1:99:168,0,255 3 46875258 rs75324040 A G START_LOST PRSS42 HIGH|MISSENSE|aTg/aCg|M1T|100|PRSS42|protein_coding|CODING|ENST00000447340|exon_3_46875201_46875313 . 0/1:99:145,0,158 . . 3 52004097 . CGGGGGG CGGGGGGG FRAME_SHIFT ABHD14B HIGH||-/C|-101?|208|ABHD14B|protein_coding|CODING|ENST00000315877|exon_3_52003959_52004139 . . 0/1:65:88,0,62 . 3 52004097 . CGGGGGG CGGGGGGG FRAME_SHIFT ABHD14B HIGH||-/C|-103?|185|ABHD14B|protein_coding|CODING|ENST00000439982|exon_3_52004091_52004200 . . 0/1:65:88,0,62 . 3 52004097 . CGGGGGG CGGGGGGG FRAME_SHIFT ABHD14B HIGH||-/C|-103?|188|ABHD14B|protein_coding|CODING|ENST00000461108|exon_3_52003100_52004200 . . 0/1:65:88,0,62 . 3 52004097 . CGGGGGG CGGGGGGG FRAME_SHIFT ABHD14B HIGH||-/C|-103?|210|ABHD14B|protein_coding|CODING|ENST00000361143|exon_3_52003959_52004200 . . 0/1:65:88,0,62 . 3 52004097 . CGGGGGG CGGGGGGG FRAME_SHIFT ABHD14B HIGH||-/C|-103?|210|ABHD14B|protein_coding|CODING|ENST00000395008|exon_3_52003959_52004200 . . 0/1:65:88,0,62 . 3 52004097 . CGGGGGG CGGGGGGG FRAME_SHIFT ABHD14B HIGH||-/C|-103?|210|ABHD14B|protein_coding|CODING|ENST00000483233|exon_3_52003959_52004200 . . 0/1:65:88,0,62 . 3 52004097 . CGGGGGG CGGGGGGG FRAME_SHIFT ABHD14B HIGH||-/C|-103?|210|ABHD14B|protein_coding|CODING|ENST00000525795|exon_3_52003959_52004200 . . 0/1:65:88,0,62 . 3 52794848 . TGGGGG TGGGG FRAME_SHIFT NEK4 HIGH||-|-218|721|NEK4|protein_coding|CODING|ENST00000461689|exon_3_52794811_52794952 0/1:82:79,0,132 . . . 3 52794848 . TGGGGG TGGGG FRAME_SHIFT NEK4 HIGH||-|-218|752|NEK4|protein_coding|CODING|ENST00000535191|exon_3_52794811_52794952 0/1:82:79,0,132 . . . 3 52794848 . TGGGGG TGGGG FRAME_SHIFT NEK4 HIGH||-|-307|781|NEK4|protein_coding|CODING|ENST00000383721|exon_3_52794811_52794952 0/1:82:79,0,132 . . . 3 52794848 . TGGGGG TGGGG FRAME_SHIFT NEK4 HIGH||-|-307|841|NEK4|protein_coding|CODING|ENST00000233027|exon_3_52794811_52794952 0/1:82:79,0,132 . . . 3 62459828 . ATTTTTTTTTTTTTTTTT ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT SPLICE_SITE_DONOR CADPS HIGH||||1274|CADPS|protein_coding|CODING|ENST00000357948| 0/1:4:100,0,1 . . . 3 73111481 . CA CAA FRAME_SHIFT EBLN2 HIGH||-/A|-84?|272|EBLN2|protein_coding|CODING|ENST00000533473|exon_3_73110810_73112488 . . . 0/1:99:255,0,239 3 75834065 rs58564752 C T SPLICE_SITE_DONOR ZNF717 HIGH||||59|ZNF717|protein_coding|CODING|ENST00000471541| 0/1:99:255,0,122 . . . 3 97887843 . ATTTTTTT ATTTTTT FRAME_SHIFT OR5H15 HIGH||-|-103|309|OR5H15|protein_coding|CODING|ENST00000454529|exon_3_97887544_97888468 . . 0/1:69:68,0,71 . 3 97887843 . ATTTTTTT ATTTTTT FRAME_SHIFT OR5H15 HIGH||-|-103|313|OR5H15|protein_coding|CODING|ENST00000356526|exon_3_97887544_97888485 . . 0/1:69:68,0,71 . 3 100543776 . GTTTT GTTT FRAME_SHIFT ABI3BP HIGH||-|-144|784|ABI3BP|protein_coding|CODING|ENST00000383692|exon_3_100543702_100543785 . 0/1:99:113,0,166 . . 3 100543776 . GTTTT GTTT FRAME_SHIFT ABI3BP HIGH||-|-174|1029|ABI3BP|protein_coding|CODING|ENST00000383691|exon_3_100543702_100543785 . 0/1:99:113,0,166 . . 3 100543776 . GTTTT GTTT FRAME_SHIFT ABI3BP HIGH||-|-810|1005|ABI3BP|protein_coding|CODING|ENST00000495063|exon_3_100543702_100543785 . 0/1:99:113,0,166 . . 3 100543776 . GTTTT GTTT FRAME_SHIFT ABI3BP HIGH||-|-897|1777|ABI3BP|protein_coding|CODING|ENST00000471714|exon_3_100543702_100543785 . 0/1:99:113,0,166 . . 3 108475993 . GGGGGATTAGG GGGGGATTAGGGGATTAGG FRAME_SHIFT RETNLB HIGH||-/CCTAATCC|-10PN?|111|RETNLB|protein_coding|CODING|ENST00000295755|exon_3_108475906_108476231 . 0/1:99:188,0,255 . . 3 111797638 . TC T FRAME_SHIFT TMPRSS7 HIGH||-|-633|717|TMPRSS7|protein_coding|CODING|ENST00000419127|exon_3_111797589_111797725 . . 0/1:99:255,0,255 . 3 111797638 . TC T FRAME_SHIFT TMPRSS7 HIGH||-|-733|817|TMPRSS7|protein_coding|CODING|ENST00000437906|exon_3_111797589_111797725 . . 0/1:99:255,0,255 . 3 111797638 . TC T FRAME_SHIFT TMPRSS7 HIGH||-|-747|831|TMPRSS7|protein_coding|CODING|ENST00000443106|exon_3_111797589_111797725 . . 0/1:99:255,0,255 . 3 111797638 . TC T FRAME_SHIFT TMPRSS7 HIGH||-|-759|843|TMPRSS7|protein_coding|CODING|ENST00000452346|exon_3_111797589_111797725 . . 0/1:99:255,0,255 . 3 112935114 . TAGAAGAAG TAGAAG SPLICE_SITE_DONOR BOC HIGH||||20|BOC|protein_coding|CODING|ENST00000462425| . . . 0/1:99:255,0,255 3 113729786 . CGG CG FRAME_SHIFT KIAA1407 HIGH||-|-246|514|KIAA1407|protein_coding|CODING|ENST00000545063|exon_3_113729619_113729868 . . 0/1:99:114,0,255 . 3 113729786 . CGG CG FRAME_SHIFT KIAA1407 HIGH||-|-402|608|KIAA1407|protein_coding|CODING|ENST00000491000|exon_3_113729619_113729868 . . 0/1:99:114,0,255 . 3 113729786 . CGG CG FRAME_SHIFT KIAA1407 HIGH||-|-415|936|KIAA1407|protein_coding|CODING|ENST00000295878|exon_3_113729619_113729868 . . 0/1:99:114,0,255 . 3 126133005 . CGG CG FRAME_SHIFT CCDC37 HIGH||-|-70|117|CCDC37|protein_coding|CODING|ENST00000510833|exon_3_126132928_126133186 . . 0/1:99:199,0,250 . 3 126133005 . CGG CG FRAME_SHIFT CCDC37 HIGH||-|-70|611|CCDC37|protein_coding|CODING|ENST00000352312|exon_3_126132928_126133022 . . 0/1:99:199,0,250 . 3 126133005 . CGG CG FRAME_SHIFT CCDC37 HIGH||-|-70|612|CCDC37|protein_coding|CODING|ENST00000393425|exon_3_126132928_126133022 . . 0/1:99:199,0,250 . 3 126133005 . CGG CG FRAME_SHIFT CCDC37 HIGH||-|-70|612|CCDC37|protein_coding|CODING|ENST00000505024|exon_3_126132928_126133022 . . 0/1:99:199,0,250 . 3 129108158 . AGGG AGGGG SPLICE_SITE_DONOR RP11-529F4.1.1 HIGH|||||RP11-529F4.1.1|unprocessed_pseudogene|NON_CODING|ENST00000499853| 0/1:99:131,0,194 0/1:99:146,0,179 . 0/1:99:165,0,214 3 129828078 rs16834628 T G SPLICE_SITE_ACCEPTOR FAM86HP HIGH|||||FAM86HP|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000513466| . 0/1:99:255,0,255 . . 3 142030571 . G A STOP_GAINED XRN1 HIGH|NONSENSE|Cag/Tag|Q1623*|1694|XRN1|protein_coding|CODING|ENST00000392981|exon_3_142030103_142030655 . 0/1:99:255,0,245 . . 3 142030571 . G A STOP_GAINED XRN1 HIGH|NONSENSE|Cag/Tag|Q1635*|1706|XRN1|protein_coding|CODING|ENST00000264951|exon_3_142025449_142030655 . 0/1:99:255,0,245 . . 3 149238595 rs112399999 C CTTAA FRAME_SHIFT WWTR1 HIGH||-/TTAA|-400L?|400|WWTR1|protein_coding|CODING|ENST00000360632|exon_3_149238032_149238776 0/1:99:255,0,255 . . . 3 149238595 rs112399999 C CTTAA FRAME_SHIFT WWTR1 HIGH||-/TTAA|-400L?|400|WWTR1|protein_coding|CODING|ENST00000465804|exon_3_149235022_149238776 0/1:99:255,0,255 . . . 3 149238595 rs112399999 C CTTAA FRAME_SHIFT WWTR1 HIGH||-/TTAA|-400L?|400|WWTR1|protein_coding|CODING|ENST00000467467|exon_3_149238397_149238776 0/1:99:255,0,255 . . . 3 153202348 rs3732619 G A START_LOST C3orf79 HIGH|MISSENSE|atG/atA|M1I|100|C3orf79|protein_coding|CODING|ENST00000446603|exon_3_153202284_153202477 . 1/1:99:255,87,0 . . 3 178960766 . CTTTT CTTT FRAME_SHIFT KCNMB3 HIGH||-|-232|257|KCNMB3|protein_coding|CODING|ENST00000485523|exon_3_178960566_178961072 . . . 0/1:99:175,0,109 3 178960766 . CTTTT CTTT FRAME_SHIFT KCNMB3 HIGH||-|-250|275|KCNMB3|protein_coding|CODING|ENST00000392685|exon_3_178960552_178961072 . . . 0/1:99:175,0,109 3 178960766 . CTTTT CTTT FRAME_SHIFT KCNMB3 HIGH||-|-252|277|KCNMB3|protein_coding|CODING|ENST00000349697|exon_3_178960559_178961072 . . . 0/1:99:175,0,109 3 178960766 . CTTTT CTTT FRAME_SHIFT KCNMB3 HIGH||-|-254|279|KCNMB3|protein_coding|CODING|ENST00000314235|exon_3_178960559_178961072 . . . 0/1:99:175,0,109 3 179325566 . GCTGTCT GCTGTCTGTCT FRAME_SHIFT NDUFB5 HIGH||-/GTCT|-51V?|177|NDUFB5|protein_coding|CODING|ENST00000472629|exon_3_179325546_179325600 . . 0/1:99:255,0,171 . 3 183752964 rs77099580 A C SPLICE_SITE_ACCEPTOR HTR3D HIGH||||404|HTR3D|protein_coding|CODING|ENST00000428798| . 0/1:99:255,0,213 0/1:99:255,0,255 . 3 186648929 rs35376159 T A SPLICE_SITE_DONOR ST6GAL1 HIGH||||41|ST6GAL1|protein_coding|CODING|ENST00000430309| . 0/1:57:54,0,170 . 1/1:93:255,48,0 3 193040998 rs735930 C T SPLICE_SITE_DONOR ATP13A5 HIGH|||||ATP13A5|retained_intron|CODING|ENST00000488957| . 0/1:99:250,0,255 . . 3 193299489 . CACTTAC CAC SPLICE_SITE_DONOR RP11-175P19.2.1 HIGH|||||RP11-175P19.2.1|processed_transcript|NON_CODING|ENST00000449483| . . . 0/1:99:255,0,255 3 195481129 rs144662307 C A STOP_GAINED MUC4 HIGH|NONSENSE|Gag/Tag|E1595*|1912|MUC4|protein_coding|CODING|ENST00000392409|exon_3_195481084_195481243 0/1:76:157,0,73 . . . 3 195481129 rs144662307 C A STOP_GAINED MUC4 HIGH|NONSENSE|Gag/Tag|E5043*|5360|MUC4|protein_coding|CODING|ENST00000475231|exon_3_195481084_195481243 0/1:76:157,0,73 . . . 3 195481129 rs144662307 C A STOP_GAINED MUC4 HIGH|NONSENSE|Gag/Tag|E5095*|5412|MUC4|protein_coding|CODING|ENST00000463781|exon_3_195481084_195481243 0/1:76:157,0,73 . . . 3 195481129 rs144662307 C A STOP_GAINED MUC4 HIGH|NONSENSE|Gag/Tag|E808*|1125|MUC4|protein_coding|CODING|ENST00000349607|exon_3_195481084_195481243 0/1:76:157,0,73 . . . 3 195481129 rs144662307 C A STOP_GAINED MUC4 HIGH|NONSENSE|Gag/Tag|E859*|1176|MUC4|protein_coding|CODING|ENST00000346145|exon_3_195481084_195481243 0/1:76:157,0,73 . . . 3 195687296 rs28575342 T G SPLICE_SITE_ACCEPTOR SDHAP1 HIGH|||||SDHAP1|processed_transcript|NON_CODING|ENST00000427149| 0/1:73:70,0,253 . . . 3 195713385 . CTT CTTT SPLICE_SITE_DONOR SDHAP1 HIGH|||||SDHAP1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000354937| 0/1:22:68,0,19 . . . 3 196807915 . TACTCAC TAC SPLICE_SITE_DONOR DLG1 HIGH||||891|DLG1|protein_coding|CODING|ENST00000381807| 0/1:99:255,0,255 . . . 4 1388375 . TCA TCACA FRAME_SHIFT CRIPAK HIGH||-/CA|-20?|388|CRIPAK|protein_coding|CODING|ENST00000382944|exon_4_1388321_1388596 . 0/1:94:91,0,255 . 0/1:6:146,0,3 4 1388375 . TCA TCACA FRAME_SHIFT CRIPAK HIGH||-/CA|-27?|446|CRIPAK|protein_coding|CODING|ENST00000324803|exon_4_1385340_1389780 . 0/1:94:91,0,255 . 0/1:6:146,0,3 4 3590843 . CAGA CA FRAME_SHIFT RP3-368B9.1.1 HIGH||-|-110|175|RP3-368B9.1.1|protein_coding|CODING|ENST00000404649|exon_4_3590827_3592170 . . . 0/1:50:75,0,47 4 3590843 . CAGA CA FRAME_SHIFT RP3-368B9.1.1 HIGH||-|-110|194|RP3-368B9.1.1|protein_coding|CODING|ENST00000514422|exon_4_3590661_3591731 . . . 0/1:50:75,0,47 4 29120267 rs148065417 G A SPLICE_SITE_DONOR RP11-472K22.1.1 HIGH|||||RP11-472K22.1.1|lincRNA|NON_CODING|ENST00000503299| 0/1:99:255,0,255 . . . 4 57377453 . ACCC ACC FRAME_SHIFT ARL9 HIGH||-|-51|187|ARL9|protein_coding|CODING|ENST00000360096|exon_4_57377351_57377513 0/1:99:242,0,223 . . . 4 68829109 rs977728 C T START_LOST TMPRSS11A HIGH|MISSENSE|atG/atA|M1I|418|TMPRSS11A|protein_coding|CODING|ENST00000396188|exon_4_68829101_68829232 . . . 1/1:99:255,117,0 4 68829109 rs977728 C T START_LOST TMPRSS11A HIGH|MISSENSE|atG/atA|M1I|421|TMPRSS11A|protein_coding|CODING|ENST00000334830|exon_4_68829101_68829858 . . . 1/1:99:255,117,0 4 76805745 rs17220803 A G SPLICE_SITE_DONOR PPEF2 HIGH||||598|PPEF2|protein_coding|CODING|ENST00000337500| 0/1:99:199,0,238 . . . 4 76805745 rs17220803 A G SPLICE_SITE_DONOR PPEF2 HIGH|||||PPEF2|retained_intron|CODING|ENST00000513324| 0/1:99:199,0,238 . . . 4 88091308 . C T STOP_GAINED KLHL8 HIGH|NONSENSE|tGg/tAg|W136*|269|KLHL8|protein_coding|CODING|ENST00000545252|exon_4_88091231_88091390 . 0/1:99:255,0,255 . . 4 88091308 . C T STOP_GAINED KLHL8 HIGH|NONSENSE|tGg/tAg|W304*|437|KLHL8|protein_coding|CODING|ENST00000425278|exon_4_88091231_88091390 . 0/1:99:255,0,255 . . 4 88091308 . C T STOP_GAINED KLHL8 HIGH|NONSENSE|tGg/tAg|W411*|544|KLHL8|protein_coding|CODING|ENST00000498875|exon_4_88091231_88091390 . 0/1:99:255,0,255 . . 4 88091308 . C T STOP_GAINED KLHL8 HIGH|NONSENSE|tGg/tAg|W487*|620|KLHL8|protein_coding|CODING|ENST00000273963|exon_4_88091231_88091390 . 0/1:99:255,0,255 . . 4 88091308 . C T STOP_GAINED KLHL8 HIGH|NONSENSE|tGg/tAg|W487*|620|KLHL8|protein_coding|CODING|ENST00000512111|exon_4_88091231_88091390 . 0/1:99:255,0,255 . . 4 91648353 rs3733453 A G SPLICE_SITE_ACCEPTOR FAM190A HIGH|||||FAM190A|processed_transcript|CODING|ENST00000504150| . 0/1:99:255,0,255 . . 4 98041918 rs58514516 T G SPLICE_SITE_DONOR RP11-431J17.1.1 HIGH|||||RP11-431J17.1.1|lincRNA|NON_CODING|ENST00000517407| . . 0/1:99:255,0,255 . 4 120325868 . ACCCCC ACCCCCC FRAME_SHIFT AC110373.1 HIGH||-/C|-126?|134|AC110373.1|protein_coding|CODING|ENST00000307499|exon_4_120325656_120326749 0/1:70:107,0,67 . . . 4 152201016 . TGGCAGG TGGCAGGGCAGG FRAME_SHIFT PRSS48 HIGH||-/GCAGG|-43A?|328|PRSS48|protein_coding|CODING|ENST00000455694|exon_4_152200948_152201110 . . . 0/1:13:255,0,10 4 178163809 rs72702906 T G STOP_LOST RP11-487E13.1.1 HIGH|MISSENSE|tgA/tgC|*75C|74|RP11-487E13.1.1|protein_coding|CODING|ENST00000512516|exon_4_178163693_178163857 . . . 0/1:99:255,0,255 4 187192921 . C T STOP_GAINED F11 HIGH|NONSENSE|Cga/Tga|R72*|162|F11|protein_coding|CODING|ENST00000492972|exon_4_187192763_187192925 0/1:99:255,0,242 . . . 4 187192921 . C T STOP_GAINED F11 HIGH|NONSENSE|Cga/Tga|R72*|573|F11|protein_coding|CODING|ENST00000264692|exon_4_187192763_187192925 0/1:99:255,0,242 . . . 4 187192921 . C T STOP_GAINED F11 HIGH|NONSENSE|Cga/Tga|R72*|625|F11|protein_coding|CODING|ENST00000403665|exon_4_187192763_187192925 0/1:99:255,0,242 . . . 5 468726 rs62622783 T C SPLICE_SITE_DONOR EXOC3 HIGH|||||EXOC3|nonsense_mediated_decay|CODING|ENST00000515601| . . 0/1:99:231,0,255 0/1:99:187,0,202 5 7856887 . ATTTTTTTTTT ATTTTTTTTTTT SPLICE_SITE_ACCEPTOR MTRR HIGH|||||MTRR|processed_transcript|CODING|ENST00000507837| . . . 1/1:89:79,54,0 5 40841571 rs141244584 CTT C FRAME_SHIFT CARD6 HIGH||-|-30|1037|CARD6|protein_coding|CODING|ENST00000254691|exon_5_40841286_40841767 . 0/1:99:255,0,255 . . 5 40841571 rs141244584 CTT C FRAME_SHIFT CARD6 HIGH||-|-30|310|CARD6|protein_coding|CODING|ENST00000381677|exon_5_40841410_40841767 . 0/1:99:255,0,255 . . 5 40841571 rs141244584 CTT C FRAME_SHIFT CARD6 HIGH||-|-30|310|CARD6|protein_coding|CODING|ENST00000444789|exon_5_40841410_40841764 . 0/1:99:255,0,255 . . 5 40841571 rs141244584 CTT C FRAME_SHIFT CARD6 HIGH||-|-30|481|CARD6|protein_coding|CODING|ENST00000509771|exon_5_40841478_40841767 . 0/1:99:255,0,255 . . 5 54990034 rs117576392 T A SPLICE_SITE_ACCEPTOR SLC38A9 HIGH|||||SLC38A9|nonsense_mediated_decay|CODING|ENST00000505563| . 0/1:54:51,0,255 . . 5 57792549 rs67873319 G T SPLICE_SITE_ACCEPTOR GAPT HIGH|||||GAPT|processed_transcript|CODING|ENST00000511178| . 0/1:99:255,0,255 . 0/1:99:255,0,255 5 65603604 rs10515006 G A SPLICE_SITE_DONOR RP11-305P14.1.1 HIGH|||||RP11-305P14.1.1|lincRNA|NON_CODING|ENST00000510964| 0/1:99:255,0,246 . . . 5 68667276 . CCCA C SPLICE_SITE_ACCEPTOR RAD17 HIGH||||670|RAD17|protein_coding|CODING|ENST00000354868| . . . 1/1:57:117,30,0 5 68667276 . CCCA C SPLICE_SITE_ACCEPTOR RAD17 HIGH|||||RAD17|processed_transcript|CODING|ENST00000511349| . . . 1/1:57:117,30,0 5 79370247 rs13167730 G T SPLICE_SITE_DONOR THBS4 HIGH|||||THBS4|processed_transcript|CODING|ENST00000515510| . 0/1:99:255,0,252 . . 5 81600670 rs79894200 G A SPLICE_SITE_DONOR ATP6AP1L HIGH||||224|ATP6AP1L|protein_coding|CODING|ENST00000380167| 0/1:99:223,0,255 . . . 5 96856893 . ACCTATTATATTGTCGTCAACCCATTAAATTTTATCCTA ACCTA SPLICE_SITE_ACCEPTOR RP11-1E3.1.1 HIGH|||||RP11-1E3.1.1|lincRNA|NON_CODING|ENST00000504012| . 0/1:99:112,0,255 . . 5 121488635 . ATTT ATT FRAME_SHIFT ZNF474 HIGH||-|-318|364|ZNF474|protein_coding|CODING|ENST00000296600|exon_5_121487474_121489266 0/1:99:164,0,249 . . . 5 136963746 rs79996949 A G SPLICE_SITE_DONOR KLHL3 HIGH|||||KLHL3|retained_intron|CODING|ENST00000509694| . . . 0/1:99:244,0,190 5 140181306 . CTGAAT CT FRAME_SHIFT PCDHA3 HIGH||-|-176|824|PCDHA3|protein_coding|CODING|ENST00000532566|exon_5_140180783_140183257 . 0/1:99:255,0,255 . . 5 140181306 . CTGAAT CT FRAME_SHIFT PCDHA3 HIGH||-|-176|950|PCDHA3|protein_coding|CODING|ENST00000522353|exon_5_140180783_140183176 . 0/1:99:255,0,255 . . 5 140588533 . TG T FRAME_SHIFT PCDHB12 HIGH||-|-19|795|PCDHB12|protein_coding|CODING|ENST00000239450|exon_5_140588291_140591696 0/1:99:255,0,255 . . . 5 140596162 rs2910332 C T SPLICE_SITE_ACCEPTOR PCDHB13 HIGH||||802|PCDHB13|protein_coding|CODING|ENST00000430318| 0/1:99:255,0,255 . . . 5 140794930 rs62378454 C T STOP_GAINED PCDHGA10 HIGH|NONSENSE|Cag/Tag|Q730*|936|PCDHGA10|protein_coding|CODING|ENST00000398610|exon_5_140792743_140795178 . . 0/1:99:255,0,156 . 5 149501688 . TCTCACTCAC TCTCAC SPLICE_SITE_DONOR PDGFRB HIGH|||||PDGFRB|processed_transcript|CODING|ENST00000519575| . . . 0/1:99:255,0,255 5 149563573 rs73796347 A G SPLICE_SITE_ACCEPTOR AC005895.4.1 HIGH|||||AC005895.4.1|3prime_overlapping_ncrna|NON_CODING|ENST00000546429| . . . 0/1:99:202,0,185 5 158410773 . T C SPLICE_SITE_DONOR CTD-2363C16.1.1 HIGH|||||CTD-2363C16.1.1|antisense|NON_CODING|ENST00000522582| 0/1:99:112,0,248 . . . 5 169910062 rs10076544 A G SPLICE_SITE_ACCEPTOR KCNIP1 HIGH|||||KCNIP1|nonsense_mediated_decay|CODING|ENST00000517344| 0/1:99:251,0,255 . 0/1:99:255,0,176 . 5 169910062 rs10076544 A G SPLICE_SITE_ACCEPTOR KCNIP1 HIGH|||||KCNIP1|processed_transcript|CODING|ENST00000518527| 0/1:99:251,0,255 . 0/1:99:255,0,176 . 5 177141054 rs148710717 C A SPLICE_SITE_DONOR FAM153A HIGH|||||FAM153A|processed_transcript|CODING|ENST00000506011| 0/1:99:245,0,238 0/1:99:217,0,255 0/1:99:225,0,228 0/1:99:230,0,214 5 177141054 rs148710717 C A SPLICE_SITE_DONOR FAM153A HIGH|||||FAM153A|processed_transcript|CODING|ENST00000514899| 0/1:99:245,0,238 0/1:99:217,0,255 0/1:99:225,0,228 0/1:99:230,0,214 5 177681946 . CT CTT SPLICE_SITE_DONOR COL23A1 HIGH||||540|COL23A1|protein_coding|CODING|ENST00000390654| 0/1:99:189,0,235 . . . 5 179128008 rs56030002 T C SPLICE_SITE_DONOR CANX HIGH||||31|CANX|protein_coding|CODING|ENST00000509563| 0/1:99:220,0,142 . . . 6 2329567 rs77773385 G A SPLICE_SITE_DONOR RP1-80B9.2.1 HIGH|||||RP1-80B9.2.1|processed_transcript|NON_CODING|ENST00000534441| . 0/1:99:255,0,255 . . 6 20212410 rs61737148 T C SPLICE_SITE_DONOR RP11-239H6.2.1 HIGH|||||RP11-239H6.2.1|processed_transcript|NON_CODING|ENST00000449143| 0/1:99:191,0,143 . . . 6 24473808 . A C STOP_LOST GPLD1 HIGH|MISSENSE|Tag/Gag|*177E|176|GPLD1|protein_coding|CODING|ENST00000378243|exon_6_24473307_24473895 . . 0/1:99:255,0,255 . 6 28198122 rs76542212 C T STOP_GAINED ZNF193 HIGH|NONSENSE|Cga/Tga|R193*|445|ZNF193|protein_coding|CODING|ENST00000425468|exon_6_28198114_28198266 . 0/1:99:234,0,255 . . 6 29894953 rs9259828 A T SPLICE_SITE_ACCEPTOR HLA-K HIGH|||||HLA-K|unprocessed_pseudogene|NON_CODING|ENST00000430151| . 0/1:46:127,0,43 . . 6 30136076 rs200762377 G A SPLICE_SITE_ACCEPTOR TRIM15 HIGH||||396|TRIM15|protein_coding|CODING|ENST00000376695| . . . 0/1:99:143,0,218 6 30136076 rs200762377 G A SPLICE_SITE_ACCEPTOR TRIM15 HIGH||||465|TRIM15|protein_coding|CODING|ENST00000376694| . . . 0/1:99:143,0,218 6 30758664 rs3131044 A C SPLICE_SITE_ACCEPTOR HCG20 HIGH|||||HCG20|lincRNA|NON_CODING|ENST00000439406| . . 0/1:84:81,0,255 . 6 31105857 . AGG AG FRAME_SHIFT PSORS1C2 HIGH||-|-94|136|PSORS1C2|protein_coding|CODING|ENST00000259845|exon_6_31105313_31106083 . 0/1:99:136,0,102 0/1:99:240,0,134 . 6 31125257 rs72856718 C A STOP_GAINED CCHCR1 HIGH|NONSENSE|Gaa/Taa|E41*|215|CCHCR1|protein_coding|CODING|ENST00000426967|exon_6_31125135_31125565 0/1:99:249,0,255 . . 0/1:99:96,0,195 6 31125257 rs72856718 C A STOP_GAINED CCHCR1 HIGH|NONSENSE|Gaa/Taa|E41*|835|CCHCR1|protein_coding|CODING|ENST00000451521|exon_6_31125162_31125384 0/1:99:249,0,255 . . 0/1:99:96,0,195 6 31125257 rs72856718 C A STOP_GAINED CCHCR1 HIGH|NONSENSE|Gaa/Taa|E41*|871|CCHCR1|protein_coding|CODING|ENST00000396268|exon_6_31125162_31125566 0/1:99:249,0,255 . . 0/1:99:96,0,195 6 31324917 . G A STOP_GAINED HLA-B HIGH|NONSENSE|Cga/Tga|R7*|362|HLA-B|protein_coding|CODING|ENST00000412585|exon_6_31324863_31324964 . . . 0/1:55:52,0,146 6 31632686 rs2295665 C T SPLICE_SITE_ACCEPTOR GPANK1 HIGH||||106|GPANK1|protein_coding|CODING|ENST00000432291| . . . 0/1:99:236,0,214 6 31740763 . ACAGGCTCCATGGGGC ACAGGCTCCATGGGGCAGGCTCCATGGGGC FRAME_SHIFT VWA7 HIGH||-/GCCCCATGGAGCCT|-347APWS?|688|VWA7|protein_coding|CODING|ENST00000447450|exon_6_31740731_31740900 . . . 0/1:99:100,0,214 6 31740763 . ACAGGCTCCATGGGGC ACAGGCTCCATGGGGCAGGCTCCATGGGGC FRAME_SHIFT VWA7 HIGH||-/GCCCCATGGAGCCT|-347APWS?|852|VWA7|protein_coding|CODING|ENST00000375686|exon_6_31740731_31740900 . . . 0/1:99:100,0,214 6 31740763 . ACAGGCTCCATGGGGC ACAGGCTCCATGGGGCAGGCTCCATGGGGC FRAME_SHIFT VWA7 HIGH||-/GCCCCATGGAGCCT|-347APWS?|891|VWA7|protein_coding|CODING|ENST00000375688|exon_6_31740731_31740900 . . . 0/1:99:100,0,214 6 32359389 rs62402754 G A SPLICE_SITE_ACCEPTOR HCG23 HIGH|||||HCG23|antisense|NON_CODING|ENST00000426643| . . . 0/1:99:208,0,255 6 32497901 rs79192142 C T SPLICE_SITE_DONOR HLA-DRB5 HIGH||||266|HLA-DRB5|protein_coding|CODING|ENST00000374975| . 0/1:61:58,0,145 . . 6 33096523 rs28361079 T G SPLICE_SITE_DONOR HLA-DPB2 HIGH|||||HLA-DPB2|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000470997| 0/1:70:67,0,241 . . . 6 36452603 . T A SPLICE_SITE_DONOR KCTD20 HIGH|||||KCTD20|nonsense_mediated_decay|CODING|ENST00000481911| 0/1:56:53,0,227 . . . 6 36953919 . AGGG AGG FRAME_SHIFT MTCH1 HIGH||-|-10|372|MTCH1|protein_coding|CODING|ENST00000373616|exon_6_36953629_36954074 . . . 0/1:91:88,0,196 6 36953919 . AGGG AGG FRAME_SHIFT MTCH1 HIGH||-|-10|389|MTCH1|protein_coding|CODING|ENST00000373627|exon_6_36953629_36954074 . . . 0/1:91:88,0,196 6 41010518 rs41273356 G A SPLICE_SITE_DONOR TSPO2 HIGH||||170|TSPO2|protein_coding|CODING|ENST00000373161| . . . 0/1:99:102,0,239 6 41010518 rs41273356 G A SPLICE_SITE_DONOR TSPO2 HIGH||||70|TSPO2|protein_coding|CODING|ENST00000373158| . . . 0/1:99:102,0,239 6 41721634 rs74768860 A T SPLICE_SITE_DONOR PGC HIGH||||85|PGC|protein_coding|CODING|ENST00000415707| 0/1:99:255,0,193 . . . 6 41766432 . CCCCCACCCCAC CCCCCACCCCACCCCAC FRAME_SHIFT USP49 HIGH||-/GTGGG|-632V?|640|USP49|protein_coding|CODING|ENST00000297229|exon_6_41765384_41766667 . . 0/1:99:255,0,255 . 6 41766432 . CCCCCACCCCAC CCCCCACCCCACCCCAC FRAME_SHIFT USP49 HIGH||-/GTGGG|-632V?|640|USP49|protein_coding|CODING|ENST00000373006|exon_6_41765383_41766667 . . 0/1:99:255,0,255 . 6 42858524 rs61732354 C T START_LOST C6orf226 HIGH|MISSENSE|atG/atA|M1I|101|C6orf226|protein_coding|CODING|ENST00000408925|exon_6_42858005_42858554 0/1:99:235,0,255 . . . 6 43490424 . A G STOP_LOST XPO5 HIGH|MISSENSE|Tga/Cga|*737R|736|XPO5|protein_coding|CODING|ENST00000436943|exon_6_43490422_43490474 0/1:99:230,0,204 . . . 6 49787038 rs1030513 A G SPLICE_SITE_DONOR RP3-417L20.4.1 HIGH|||||RP3-417L20.4.1|antisense|NON_CODING|ENST00000437859| . 0/1:99:255,0,255 . . 6 52015919 rs183278029 T C SPLICE_SITE_ACCEPTOR RP11-771D21.2.1 HIGH|||||RP11-771D21.2.1|lincRNA|NON_CODING|ENST00000418518| 0/1:99:255,0,255 . . . 6 82437972 rs67880674 A G SPLICE_SITE_DONOR RP5-991C6.4.1 HIGH|||||RP5-991C6.4.1|sense_intronic|NON_CODING|ENST00000457116| 0/1:99:236,0,255 . . 0/1:99:224,0,255 6 85866689 rs12665421 A T SPLICE_SITE_DONOR RP3-455E7.1.1 HIGH|||||RP3-455E7.1.1|pseudogene|NON_CODING|ENST00000403057| . . . 0/1:99:255,0,255 6 109767631 . TGTGG TGTGGTCTGGTCAGTGACCTGCCCAGGGTGG FRAME_SHIFT MICAL1 HIGH||-/CCACCCTGGGCAGGTCACTGACCAGA|-18PPWAGH*P?|323|MICAL1|protein_coding|CODING|ENST00000335266|exon_6_109767632_109767688 . . . 1/1:10:75,6,0 6 114452376 rs9481421 G A SPLICE_SITE_ACCEPTOR RP3-399L15.3.1 HIGH|||||RP3-399L15.3.1|processed_transcript|NON_CODING|ENST00000520034| . . 0/1:99:251,0,255 . 6 138539183 . AGGG AGGGG FRAME_SHIFT PBOV1 HIGH||-/C|-116?|135|PBOV1|protein_coding|CODING|ENST00000527246|exon_6_138537123_138539628 . 0/1:99:254,0,238 . . 6 139309069 . ACGGCTCCGGCTCCGGCTCCGGCTCCGGC ACGGCTCCGGCTCCGGC SPLICE_SITE_DONOR REPS1 HIGH||||744|REPS1|protein_coding|CODING|ENST00000367668| 0/1:30:59,0,27 . . . 6 143507805 rs9376728 A G SPLICE_SITE_ACCEPTOR AIG1 HIGH|||||AIG1|processed_transcript|CODING|ENST00000470265| 0/1:99:255,0,255 . . . 6 152774686 . AGG AG FRAME_SHIFT SYNE1 HIGH||-|-587|612|SYNE1|protein_coding|CODING|ENST00000495090|exon_6_152774551_152774855 . . 0/1:99:235,0,255 . 6 153019099 . GAGATAGA GAGA FRAME_SHIFT MYCT1 HIGH||-|-22|235|MYCT1|protein_coding|CODING|ENST00000367245|exon_6_153019030_153019233 . . . 0/1:99:255,0,255 6 153019099 . GAGATAGA GAGA FRAME_SHIFT MYCT1 HIGH||-|-22|67|MYCT1|protein_coding|CODING|ENST00000529453|exon_6_153019032_153019233 . . . 0/1:99:255,0,255 6 167595300 rs146018563 C T STOP_GAINED TCP10L2 HIGH|NONSENSE|Cga/Tga|R320*|353|TCP10L2|protein_coding|CODING|ENST00000366832|exon_6_167595213_167596396 0/1:60:123,0,57 . . . 6 167794583 . CAAAAA CAAAA FRAME_SHIFT TCP10 HIGH||-|-100|107|TCP10|protein_coding|CODING|ENST00000476779|exon_6_167794393_167794824 0/1:99:97,0,126 . . . 6 169697791 . CAAAAAAAAAAAAAAAA CAAAAAAAAAAAAAA,CAAAAAAAAAAAAA SPLICE_SITE_DONOR XXyac-YX65C7_A.4.1 HIGH|||||XXyac-YX65C7_A.4.1|processed_pseudogene|NON_CODING|ENST00000414044| 1/1:99:97,66,0,94,50,91 1/1:92:86,51,0,76,19,69 1/1:99:98,57,0,95,41,92 . 7 1132824 . TTCT TT FRAME_SHIFT GPER HIGH||-|-394|408|GPER|protein_coding|CODING|ENST00000508834|exon_7_1132561_1133445 0/1:99:250,0,251 . . . 7 1132824 . TTCT TT SPLICE_SITE_DONOR GPER HIGH||||176|GPER|protein_coding|CODING|ENST00000342452| 0/1:99:250,0,251 . . . 7 2552887 . ATGG ATGGCTGG FRAME_SHIFT LFNG HIGH||-/CTGG|-50L?|308|LFNG|protein_coding|CODING|ENST00000402506|exon_7_2552791_2552962 0/1:33:255,0,30 . . . 7 8196559 . TAAAAAAAAAAAAAAAAAAAAAAAAA TAAAAAA FRAME_SHIFT ICA1 HIGH||-|-322|350|ICA1|protein_coding|CODING|ENST00000407906|exon_7_8196187_8196844 . 0/1:63:181,0,60 1/1:99:255,63,0 . 7 17334899 rs4719497 T C SPLICE_SITE_ACCEPTOR AC003075.4.1 HIGH|||||AC003075.4.1|antisense|NON_CODING|ENST00000452249| 0/1:99:255,0,255 . . . 7 29760080 . A G SPLICE_SITE_ACCEPTOR AC007276.5.1 HIGH|||||AC007276.5.1|unprocessed_pseudogene|NON_CODING|ENST00000414296| . 0/1:99:194,0,255 . . 7 36124231 . GT GTT FRAME_SHIFT AC083864.4.1 HIGH||-/T|-79?|123|AC083864.4.1|protein_coding|CODING|ENST00000381493|exon_7_36124082_36125346 0/1:99:251,0,154 . 0/1:99:221,0,183 . 7 46713850 rs112014744 C T SPLICE_SITE_ACCEPTOR AC011294.3.1 HIGH|||||AC011294.3.1|processed_transcript|CODING|ENST00000487094| 0/1:99:255,0,196 . . . 7 47853022 rs185081161 A G SPLICE_SITE_ACCEPTOR C7orf69 HIGH||||103|C7orf69|protein_coding|CODING|ENST00000418326| . . 0/1:99:255,0,112 . 7 54624989 rs78182551 G C SPLICE_SITE_DONOR GS1-18A18.1.1 HIGH|||||GS1-18A18.1.1|processed_transcript|NON_CODING|ENST00000456049| . 0/1:99:244,0,179 . . 7 55224353 . G A SPLICE_SITE_DONOR EGFR HIGH||||705|EGFR|protein_coding|CODING|ENST00000344576| . . 0/1:99:255,0,210 . 7 55621488 . ACACACACACACTCAC ACAC SPLICE_SITE_DONOR VOPP1 HIGH||||109|VOPP1|protein_coding|CODING|ENST00000454227| . 0/1:71:126,0,68 . . 7 95025662 . T C START_LOST PON3 HIGH|MISSENSE|Atg/Gtg|M1V|245|PON3|protein_coding|CODING|ENST00000427422|exon_7_95025589_95025673 0/1:99:224,0,167 . . . 7 95025662 . T C START_LOST PON3 HIGH|MISSENSE|Atg/Gtg|M1V|354|PON3|protein_coding|CODING|ENST00000265627|exon_7_95025589_95025673 0/1:99:224,0,167 . . . 7 95025662 . T C START_LOST PON1 HIGH|MISSENSE|Atg/Gtg|M1V|355|PON1|protein_coding|CODING|ENST00000542556|exon_7_95025589_95025673 0/1:99:224,0,167 . . . 7 99954457 rs41280971 G T SPLICE_SITE_DONOR PILRB HIGH||||227|PILRB|protein_coding|CODING|ENST00000420688| . 1/1:99:255,84,0 0/1:99:242,0,151 . 7 99954457 rs41280971 G T SPLICE_SITE_DONOR PILRB HIGH||||332|PILRB|protein_coding|CODING|ENST00000413850| . 1/1:99:255,84,0 0/1:99:242,0,151 . 7 100199961 . A C SPLICE_SITE_DONOR RP13-530H6.2.1 HIGH|||||RP13-530H6.2.1|antisense|NON_CODING|ENST00000442166| . 0/1:99:177,0,191 . . 7 100334192 rs200760090 C T STOP_GAINED ZAN HIGH|NONSENSE|Cga/Tga|R65*|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100334106_100334252 . 0/1:99:255,0,140 . . 7 100334192 rs200760090 C T STOP_GAINED ZAN HIGH|NONSENSE|Cga/Tga|R65*|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100334106_100334252 . 0/1:99:255,0,140 . . 7 100334192 rs200760090 C T STOP_GAINED ZAN HIGH|NONSENSE|Cga/Tga|R65*|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100334106_100334252 . 0/1:99:255,0,140 . . 7 100385561 . GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATG GG FRAME_SHIFT ZAN HIGH||-|-2343|2623|ZAN|protein_coding|CODING|ENST00000538115|exon_7_100385511_100385758 . 0/1:99:121,0,245 . . 7 100385561 . GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATG GG FRAME_SHIFT ZAN HIGH||-|-2343|2688|ZAN|protein_coding|CODING|ENST00000542585|exon_7_100385511_100385758 . 0/1:99:121,0,245 . . 7 100385561 . GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATG GG FRAME_SHIFT ZAN HIGH||-|-2343|2720|ZAN|protein_coding|CODING|ENST00000546292|exon_7_100385511_100385758 . 0/1:99:121,0,245 . . 7 100385561 . GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATG GG FRAME_SHIFT ZAN HIGH||-|-817|1184|ZAN|protein_coding|CODING|ENST00000546213|exon_7_100385511_100385758 . 0/1:99:121,0,245 . . 7 100454239 rs140197623 C T SPLICE_SITE_ACCEPTOR SLC12A9 HIGH|||||SLC12A9|retained_intron|CODING|ENST00000474019| . 0/1:99:215,0,208 . . 7 100607266 rs4448204 C G SPLICE_SITE_ACCEPTOR RP11-395B7.2.1 HIGH|||||RP11-395B7.2.1|antisense|NON_CODING|ENST00000420080| . 0/1:99:139,0,255 . . 7 100883019 . AACAGGGAAAGGACAG AACAGGGAAAGGACAGGGAAAGGACAG FRAME_SHIFT FIS1 HIGH||-/CTGTCCTTTCC|-125LSF?|154|FIS1|protein_coding|CODING|ENST00000435848|exon_7_100882942_100883184 . 0/1:99:161,0,255 . . 7 102618968 rs117274931 G A SPLICE_SITE_DONOR RP11-645N11.2.1 HIGH|||||RP11-645N11.2.1|processed_transcript|NON_CODING|ENST00000420058| . . . 0/1:99:236,0,255 7 102961277 . CTTTTTTTTTTTTTTTTTTTT CTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTT FRAME_SHIFT DNAJC2 HIGH||-/A|-195?|201|DNAJC2|protein_coding|CODING|ENST00000537811|exon_7_102961276_102961309 . . 1/1:63:189,33,0,197,16,188 . 7 102961277 . CTTTTTTTTTTTTTTTTTTTT CTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTT FRAME_SHIFT DNAJC2 HIGH||-|-195|201|DNAJC2|protein_coding|CODING|ENST00000537811|exon_7_102961276_102961309 . . 1/1:63:189,33,0,197,16,188 . 7 110603126 . CTTTTCAGTTTTC CTTTTC FRAME_SHIFT IMMP2L HIGH||-|-105|110|IMMP2L|protein_coding|CODING|ENST00000437687|exon_7_110603119_110603146 . . 0/1:99:188,0,255 . 7 110603126 . CTTTTCAGTTTTC CTTTTC FRAME_SHIFT IMMP2L HIGH||-|-105|110|IMMP2L|protein_coding|CODING|ENST00000447215|exon_7_110602364_110603146 . . 0/1:99:188,0,255 . 7 116599314 . C T STOP_GAINED ST7-OT4 HIGH|NONSENSE|Caa/Taa|Q160*|169|ST7-OT4|protein_coding|CODING|ENST00000397750|exon_7_116599207_116599871 0/1:99:255,0,252 . . . 7 119209346 rs10273351 A G SPLICE_SITE_ACCEPTOR AC091320.1 HIGH|||||AC091320.1|pseudogene|NON_CODING|ENST00000539831| 0/1:99:138,0,255 . . 0/1:99:192,0,227 7 119209346 rs10273351 A G SPLICE_SITE_DONOR AC091320.1 HIGH|||||AC091320.1|pseudogene|NON_CODING|ENST00000539831| 0/1:99:138,0,255 . . 0/1:99:192,0,227 7 135715783 rs28625723 T C SPLICE_SITE_DONOR AC024084.1.1 HIGH|||||AC024084.1.1|lincRNA|NON_CODING|ENST00000440744| 0/1:99:230,0,255 0/1:99:255,0,255 . . 7 137569632 . C T STOP_GAINED CREB3L2 HIGH|NONSENSE|tGg/tAg|W460*|460|CREB3L2|protein_coding|CODING|ENST00000456390|exon_7_137569013_137569867 . . . 0/1:99:255,0,183 7 140702193 . TTCTCTCT TTCTCTCTCT FRAME_SHIFT MRPS33 HIGH||-/AG|-111?|111|MRPS33|protein_coding|CODING|ENST00000544013|exon_7_140702196_140702217 . 0/1:55:155,0,52 . . 7 141969453 rs7785573 C T SPLICE_SITE_DONOR U66059.29.1 HIGH|||||U66059.29.1|unitary_pseudogene|NON_CODING|ENST00000448860| . 0/1:99:255,0,255 0/1:99:255,0,245 0/1:99:249,0,228 7 144364877 . CTTT CTTTT FRAME_SHIFT TPK1 HIGH||-/A|-36?|189|TPK1|protein_coding|CODING|ENST00000538212|exon_7_144364819_144364939 0/1:99:245,0,235 . . . 7 144364918 rs67644764 G T STOP_GAINED TPK1 HIGH|NONSENSE|tCg/tAg|S24*|189|TPK1|protein_coding|CODING|ENST00000538212|exon_7_144364819_144364939 0/1:99:255,0,170 . . . 7 144421202 rs73162749 C T SPLICE_SITE_DONOR TPK1 HIGH||||189|TPK1|protein_coding|CODING|ENST00000538212| 0/1:99:255,0,255 . . . 8 2679914 rs13265741 A G SPLICE_SITE_ACCEPTOR GS1-57L11.1.1 HIGH|||||GS1-57L11.1.1|lincRNA|NON_CODING|ENST00000520024| 0/1:99:228,0,255 . . . 8 9527707 rs7015700 G A SPLICE_SITE_DONOR TNKS HIGH|||||TNKS|retained_intron|CODING|ENST00000521039| 0/1:99:255,0,224 0/1:99:255,0,251 0/1:99:255,0,255 1/1:99:255,120,0 8 10480295 . TGGGG TGGGGG FRAME_SHIFT RP1L1 HIGH||-/C|-138?|2400|RP1L1|protein_coding|CODING|ENST00000382483|exon_8_10480103_10480730 0/1:99:160,0,137 . . . 8 11659375 . ATTTTT ATTTT FRAME_SHIFT RP11-297N6.4.1 HIGH||-|-73|92|RP11-297N6.4.1|protein_coding|CODING|ENST00000533405|exon_8_11659207_11659529 . . 0/1:62:59,0,111 . 8 22472277 . TGGCAGCCTT TGGCAGCCTTCATCCTGATGGGCGGCAGCCTT FRAME_SHIFT RP11-582J16.5.1 HIGH||-/AAGGCTGCCGCCCATCAGGATG|-68KAAAHQD?|115|RP11-582J16.5.1|protein_coding|CODING|ENST00000521025|exon_8_22471421_22474170 0/1:64:61,0,132 . . . 8 38709451 . TTGACTG TTG FRAME_SHIFT TACC1 HIGH||-|-449|476|TACC1|protein_coding|CODING|ENST00000443388|exon_8_38709457_38710144 . . 0/1:99:255,0,255 0/1:99:255,0,255 8 38709451 . TTGACTG TTG SPLICE_SITE_ACCEPTOR TACC1 HIGH||||476|TACC1|protein_coding|CODING|ENST00000443388| . . 0/1:99:255,0,255 0/1:99:255,0,255 8 38709451 . TTGACTG TTG SPLICE_SITE_DONOR TACC1 HIGH||||476|TACC1|protein_coding|CODING|ENST00000443388| . . 0/1:99:255,0,255 0/1:99:255,0,255 8 39358427 . TACTCAC TAC SPLICE_SITE_DONOR ADAM3A HIGH|||||ADAM3A|processed_transcript|NON_CODING|ENST00000481351| . . 0/1:99:255,0,255 . 8 39362859 rs62510500 C T SPLICE_SITE_DONOR ADAM3A HIGH|||||ADAM3A|processed_transcript|NON_CODING|ENST00000481351| . . 0/1:99:255,0,231 . 8 39468196 . C T STOP_GAINED ADAM18 HIGH|NONSENSE|Cag/Tag|Q121*|539|ADAM18|protein_coding|CODING|ENST00000522198|exon_8_39468048_39468225 . 0/1:99:255,0,255 . . 8 39468196 . C T STOP_GAINED ADAM18 HIGH|NONSENSE|Cag/Tag|Q165*|182|ADAM18|protein_coding|CODING|ENST00000520772|exon_8_39468048_39469094 . 0/1:99:255,0,255 . . 8 39468196 . C T STOP_GAINED ADAM18 HIGH|NONSENSE|Cag/Tag|Q165*|715|ADAM18|protein_coding|CODING|ENST00000379866|exon_8_39468048_39468225 . 0/1:99:255,0,255 . . 8 39468196 . C T STOP_GAINED ADAM18 HIGH|NONSENSE|Cag/Tag|Q165*|739|ADAM18|protein_coding|CODING|ENST00000265707|exon_8_39468048_39468225 . 0/1:99:255,0,255 . . 8 39872935 rs4503083 T A STOP_GAINED IDO2 HIGH|NONSENSE|taT/taA|Y346*|407|IDO2|protein_coding|CODING|ENST00000389060|exon_8_39872766_39873124 0/1:99:255,0,232 . . . 8 39872935 rs4503083 T A STOP_GAINED IDO2 HIGH|NONSENSE|taT/taA|Y359*|420|IDO2|protein_coding|CODING|ENST00000502986|exon_8_39872766_39873910 0/1:99:255,0,232 . . . 8 58106442 rs146504322 A G SPLICE_SITE_ACCEPTOR RP11-513O17.2.1 HIGH|||||RP11-513O17.2.1|processed_transcript|NON_CODING|ENST00000519314| . . 0/1:90:168,0,87 . 8 59549792 rs75712986 C T SPLICE_SITE_DONOR NSMAF HIGH|||||NSMAF|nonsense_mediated_decay|CODING|ENST00000518229| . 0/1:99:255,0,172 . . 8 87226634 rs56993779 TCCGACATC T FRAME_SHIFT SLC7A13 HIGH||-|-471|470|SLC7A13|protein_coding|CODING|ENST00000297524|exon_8_87226281_87226875 0/1:99:234,0,255 . 0/1:99:206,0,255 0/1:99:170,0,255 8 91606200 rs10109899 C T SPLICE_SITE_ACCEPTOR AB015752.4.1 HIGH|||||AB015752.4.1|processed_transcript|NON_CODING|ENST00000517505| . . 0/1:99:223,0,198 . 8 100844595 rs74485751 A T SPLICE_SITE_ACCEPTOR VPS13B HIGH||||1427|VPS13B|protein_coding|CODING|ENST00000395996| 0/1:65:62,0,183 . . . 8 100844596 . G T SPLICE_SITE_ACCEPTOR VPS13B HIGH||||1427|VPS13B|protein_coding|CODING|ENST00000395996| 0/1:54:51,0,216 . . . 8 104384780 rs6995597 A G START_LOST CTHRC1 HIGH|MISSENSE|Atg/Gtg|M1V|229|CTHRC1|protein_coding|CODING|ENST00000520337|exon_8_104384661_104384887 0/1:99:255,0,173 . . . 8 104384780 rs6995597 A G START_LOST CTHRC1 HIGH|MISSENSE|Atg/Gtg|M1V|231|CTHRC1|protein_coding|CODING|ENST00000297577|exon_8_104384661_104384887 0/1:99:255,0,173 . . . 8 105432928 . C A SPLICE_SITE_ACCEPTOR AP003471.1 HIGH|||||AP003471.1|pseudogene|NON_CODING|ENST00000319051| . . 0/1:86:83,0,235 . 8 105432928 . C A SPLICE_SITE_DONOR AP003471.1 HIGH|||||AP003471.1|pseudogene|NON_CODING|ENST00000319051| . . 0/1:86:83,0,235 . 8 124195352 rs148011353 G T STOP_GAINED FAM83A HIGH|NONSENSE|Gga/Tga|G86*|294|FAM83A|protein_coding|CODING|ENST00000522648|exon_8_124194921_124195576 . . . 0/1:62:59,0,220 8 124195352 rs148011353 G T STOP_GAINED FAM83A HIGH|NONSENSE|Gga/Tga|G86*|294|FAM83A|protein_coding|CODING|ENST00000546351|exon_8_124194266_124195576 . . . 0/1:62:59,0,220 8 124195352 rs148011353 G T STOP_GAINED FAM83A HIGH|NONSENSE|Gga/Tga|G86*|367|FAM83A|protein_coding|CODING|ENST00000276699|exon_8_124194921_124195576 . . . 0/1:62:59,0,220 8 124195352 rs148011353 G T STOP_GAINED FAM83A HIGH|NONSENSE|Gga/Tga|G86*|367|FAM83A|protein_coding|CODING|ENST00000536633|exon_8_124194266_124195576 . . . 0/1:62:59,0,220 8 124195352 rs148011353 G T STOP_GAINED FAM83A HIGH|NONSENSE|Gga/Tga|G86*|434|FAM83A|protein_coding|CODING|ENST00000318462|exon_8_124194752_124195576 . . . 0/1:62:59,0,220 8 124195352 rs148011353 G T STOP_GAINED FAM83A HIGH|NONSENSE|Gga/Tga|G86*|434|FAM83A|protein_coding|CODING|ENST00000518448|exon_8_124194266_124195576 . . . 0/1:62:59,0,220 8 144649541 . GCCCC GCCCCC FRAME_SHIFT C8orf73 HIGH||-/G|-675?|719|C8orf73|protein_coding|CODING|ENST00000398882|exon_8_144648357_144649635 . . . 0/1:53:74,0,50 8 144649541 . GCCCC GCCCCC FRAME_SHIFT C8orf73 HIGH||-/G|-6?|50|C8orf73|protein_coding|CODING|ENST00000524906|exon_8_144648368_144649635 . . . 0/1:53:74,0,50 8 144649541 . GCCCC GCCCCC FRAME_SHIFT C8orf73 HIGH||-/G|-6?|50|C8orf73|protein_coding|CODING|ENST00000533679|exon_8_144648362_144649635 . . . 0/1:53:74,0,50 8 144649541 . GCCCC GCCCCC FRAME_SHIFT C8orf73 HIGH||-/G|-6?|50|C8orf73|protein_coding|CODING|ENST00000534459|exon_8_144648472_144649635 . . . 0/1:53:74,0,50 8 144649541 . GCCCC GCCCCC FRAME_SHIFT C8orf73 HIGH||-/G|-6?|5|C8orf73|protein_coding|CODING|ENST00000532862|exon_8_144649542_144649635 . . . 0/1:53:74,0,50 8 146278312 . GGAATCCACGGGTGCGAATCCACGGG GGAATCCACGGG SPLICE_SITE_DONOR C8orf33 HIGH|||||C8orf33|retained_intron|CODING|ENST00000524395| . 1/1:87:251,45,0 . . 9 454608 rs79119529 T C SPLICE_SITE_ACCEPTOR RP11-165F24.3.1 HIGH|||||RP11-165F24.3.1|antisense|NON_CODING|ENST00000415004| . 0/1:99:255,0,255 . . 9 18826261 . GTTTTTTTTTTTT GTTTTTTTTTTT FRAME_SHIFT ADAMTSL1 HIGH||-|-10|463|ADAMTSL1|protein_coding|CODING|ENST00000380545|exon_9_18826136_18826461 . . . 1/1:99:77,78,0 9 18826261 . GTTTTTTTTTTTT GTTTTTTTTTTT FRAME_SHIFT ADAMTSL1 HIGH||-|-13|261|ADAMTSL1|protein_coding|CODING|ENST00000380541|exon_9_18826263_18826461 . . . 1/1:99:77,78,0 9 18826261 . GTTTTTTTTTTTT GTTTTTTTTTTT FRAME_SHIFT ADAMTSL1 HIGH||-|-13|466|ADAMTSL1|protein_coding|CODING|ENST00000316239|exon_9_18826263_18826461 . . . 1/1:99:77,78,0 9 21207037 rs10119910 A T STOP_GAINED IFNA10 HIGH|NONSENSE|tgT/tgA|C20*|189|IFNA10|protein_coding|CODING|ENST00000357374|exon_9_21206180_21207142 . 0/1:63:60,0,255 . . 9 27524364 . GTGTTTGT GTGTTTGTTTGT FRAME_SHIFT IFNK HIGH||-/TTGT|-13L?|207|IFNK|protein_coding|CODING|ENST00000276943|exon_9_27524312_27524959 . . . 0/1:99:255,0,231 9 33264501 . G A STOP_GAINED BAG1 HIGH|NONSENSE|Cga/Tga|R58*|345|BAG1|protein_coding|CODING|ENST00000472232|exon_9_33264222_33264759 0/1:99:197,0,148 . . . 9 35736460 . G T STOP_GAINED CREB3 HIGH|NONSENSE|Gaa/Taa|E285*|371|CREB3|protein_coding|CODING|ENST00000353704|exon_9_35736389_35737001 0/1:99:232,0,255 . . . 9 38395853 . C G STOP_GAINED ALDH1B1 HIGH|NONSENSE|taC/taG|Y36*|517|ALDH1B1|protein_coding|CODING|ENST00000377698|exon_9_38395737_38398658 0/1:99:165,0,240 . . . 9 43627098 . GC G FRAME_SHIFT FAM75A6 HIGH||-|-530|1343|FAM75A6|protein_coding|CODING|ENST00000332857|exon_9_43624507_43628378 0/1:99:156,0,195 . . . 9 44869141 rs10120065 G C SPLICE_SITE_DONOR RP11-160N1.10.1 HIGH||||79|RP11-160N1.10.1|protein_coding|CODING|ENST00000377548| 0/1:99:215,0,245 . . . 9 44869141 rs10120065 G C SPLICE_SITE_DONOR RP11-160N1.10.1 HIGH||||79|RP11-160N1.10.1|protein_coding|CODING|ENST00000448436| 0/1:99:215,0,245 . . . 9 78790133 . GAATGAAATG GAATG FRAME_SHIFT PCSK5 HIGH||-|-665|690|PCSK5|protein_coding|CODING|ENST00000376767|exon_9_78789902_78790478 . 0/1:99:128,0,218 . . 9 78790133 . GAATGAAATG GAATG FRAME_SHIFT PCSK5 HIGH||-|-665|690|PCSK5|protein_coding|CODING|ENST00000396108|exon_9_78789902_78790149 . 0/1:99:128,0,218 . . 9 95640167 . CTCACCTGCCCCTCACCCACGTCCTCTCAGGACAGTGGTCA CTCA SPLICE_SITE_DONOR ZNF484 HIGH||||816|ZNF484|protein_coding|CODING|ENST00000332591| 0/1:99:130,0,255 . . . 9 95640167 . CTCACCTGCCCCTCACCCACGTCCTCTCAGGACAGTGGTCA CTCA SPLICE_SITE_DONOR ZNF484 HIGH||||852|ZNF484|protein_coding|CODING|ENST00000375495| 0/1:99:130,0,255 . . . 9 102879759 rs74647103 C T SPLICE_SITE_ACCEPTOR RP11-29B11.2.1 HIGH|||||RP11-29B11.2.1|processed_pseudogene|NON_CODING|ENST00000453076| . . 0/1:99:167,0,144 0/1:99:98,0,101 9 104365314 . GAGCTAGAGGAAAGAA GA SPLICE_SITE_ACCEPTOR GRIN3A HIGH|||||GRIN3A|processed_transcript|CODING|ENST00000479772| . . 0/1:99:128,0,255 0/1:99:165,0,255 9 110093969 . AC A FRAME_SHIFT RAD23B HIGH||-|-162|172|RAD23B|protein_coding|CODING|ENST00000374678|exon_9_110093950_110094003 . . 1/1:99:251,84,0 . 9 110093970 . CAAAAAAAAAAAA CAAAAAAAAAAA FRAME_SHIFT RAD23B HIGH||-|-166|172|RAD23B|protein_coding|CODING|ENST00000374678|exon_9_110093950_110094003 . 1/1:76:66,54,0 . . 9 116191244 rs78738447 G A SPLICE_SITE_DONOR C9orf43 HIGH||||461|C9orf43|protein_coding|CODING|ENST00000288462| . 0/1:99:243,0,178 . . 9 134020086 rs61751470 A G START_LOST NUP214 HIGH|MISSENSE|Atg/Gtg|M1V|1519|NUP214|protein_coding|CODING|ENST00000438605|exon_9_134019979_134020141 . . 0/1:99:255,0,228 . 9 135962510 rs62576806 A G SPLICE_SITE_ACCEPTOR CELP HIGH|||||CELP|processed_transcript|NON_CODING|ENST00000411440| 0/1:64:63,0,66 . . . 9 136029645 rs35898523 G T STOP_GAINED GBGT1 HIGH|NONSENSE|taC/taA|Y104*|330|GBGT1|protein_coding|CODING|ENST00000540636|exon_9_136028789_136029648 . . 0/1:99:218,0,215 0/1:99:138,0,194 9 136029645 rs35898523 G T STOP_GAINED GBGT1 HIGH|NONSENSE|taC/taA|Y121*|347|GBGT1|protein_coding|CODING|ENST00000372040|exon_9_136028340_136029648 . . 0/1:99:218,0,215 0/1:99:138,0,194 9 138516346 rs34217442 CA C FRAME_SHIFT GLT6D1 HIGH||-|-143|276|GLT6D1|protein_coding|CODING|ENST00000371763|exon_9_138515502_138516516 . 0/1:99:206,0,245 . . 9 138557755 rs78741604 G A SPLICE_SITE_DONOR LCN9 HIGH||||176|LCN9|protein_coding|CODING|ENST00000277526| 0/1:99:197,0,254 . . . 9 139278404 . C T SPLICE_SITE_DONOR SNAPC4 HIGH||||1469|SNAPC4|protein_coding|CODING|ENST00000298532| . . . 0/1:99:205,0,188 X 334443 . GGGGCAGGGC GGGGCAGGGCAGGGC FRAME_SHIFT PPP2R3B HIGH||-/GCCCT|-18A?|168|PPP2R3B|protein_coding|CODING|ENST00000381625|exon_X_334267_334779 . 0/1:41:77,0,38 . . X 1522163 . CA C FRAME_SHIFT ASMTL HIGH||-|-546|545|ASMTL|protein_coding|CODING|ENST00000416733|exon_X_1522032_1522382 . 0/1:99:255,0,125 0/1:99:255,0,247 . X 1522163 . CA C FRAME_SHIFT ASMTL HIGH||-|-564|563|ASMTL|protein_coding|CODING|ENST00000534940|exon_X_1522032_1522382 . 0/1:99:255,0,125 0/1:99:255,0,247 . X 1522163 . CA C FRAME_SHIFT ASMTL HIGH||-|-606|605|ASMTL|protein_coding|CODING|ENST00000381333|exon_X_1522034_1522382 . 0/1:99:255,0,125 0/1:99:255,0,247 . X 1522163 . CA C FRAME_SHIFT ASMTL HIGH||-|-622|621|ASMTL|protein_coding|CODING|ENST00000381317|exon_X_1522034_1522382 . 0/1:99:255,0,125 0/1:99:255,0,247 . X 36162684 . CTG CTGTG FRAME_SHIFT CXorf59 HIGH||-/TG|-424?|502|CXorf59|protein_coding|CODING|ENST00000313548|exon_X_36162678_36163187 1/1:99:255,57,0 . . . X 36162684 . CTG CTGTG FRAME_SHIFT CXorf59 HIGH||-/TG|-424?|502|CXorf59|protein_coding|CODING|ENST00000378660|exon_X_36162678_36163187 1/1:99:255,57,0 . . . X 47582553 rs150154250 G T SPLICE_SITE_DONOR CXXC1P1 HIGH|||||CXXC1P1|unprocessed_pseudogene|NON_CODING|ENST00000489409| . . 0/1:99:255,0,185 . X 48140719 . A T SPLICE_SITE_ACCEPTOR RP11-344N17.11.1 HIGH|||||RP11-344N17.11.1|processed_pseudogene|NON_CODING|ENST00000445444| . . 1/1:16:71,9,0 1/1:16:69,9,0 X 63445187 . CT CTT FRAME_SHIFT ASB12 HIGH||-/A|-105?|309|ASB12|protein_coding|CODING|ENST00000396130|exon_X_63444708_63445503 . . 0/1:99:255,0,219 . X 63445187 . CT CTT FRAME_SHIFT ASB12 HIGH||-/A|-114?|286|ASB12|protein_coding|CODING|ENST00000361287|exon_X_63444937_63445530 . . 0/1:99:255,0,219 . X 63445187 . CT CTT FRAME_SHIFT ASB12 HIGH||-/A|-114?|318|ASB12|protein_coding|CODING|ENST00000362002|exon_X_63444708_63445554 . . 0/1:99:255,0,219 . X 63445187 . CT CTT FRAME_SHIFT MTMR8 HIGH||-/A|-489?|693|MTMR8|protein_coding|CODING|ENST00000453546|exon_X_63444708_63445554 . . 0/1:99:255,0,219 . X 66765158 . TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA FRAME_SHIFT AR HIGH||-|-72|531|AR|protein_coding|CODING|ENST00000538891|exon_X_66765226_66766608 . 1/1:16:100,9,0 . . X 66765158 . TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA SPLICE_SITE_ACCEPTOR AR HIGH||||531|AR|protein_coding|CODING|ENST00000538891| . 1/1:16:100,9,0 . . X 84343213 rs200759191 TGTATAA T SPLICE_SITE_ACCEPTOR APOOL HIGH||||267|APOOL|protein_coding|CODING|ENST00000373169| . . 1/1:99:255,84,0 . X 84343823 rs147086283 CAGTGAGCAAATTAGAAGAATAGGTTAGAAGAATAGGGTAGTAGATACTG C SPLICE_SITE_DONOR APOOL HIGH||||267|APOOL|protein_coding|CODING|ENST00000373169| . . . 1/1:21:116,12,0 X 100654786 . GCTCT GCT SPLICE_SITE_ACCEPTOR GLA HIGH|||||GLA|processed_transcript|CODING|ENST00000493905| . 0/1:99:255,0,255 . . X 152989467 . TT TTGT SPLICE_SITE_DONOR BCAP31 HIGH||||181|BCAP31|protein_coding|CODING|ENST00000416815| . . 0/1:99:221,0,255 . Y 21751449 rs34289137 C T STOP_GAINED CYorf15A.1 HIGH|NONSENSE|Cga/Tga|R108*|180|CYorf15A.1|protein_coding|CODING|ENST00000251749|exon_Y_21751446_21751498 1/1:87:255,45,0 . . .