Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RICTOR_chr5_38932920_39079399	38990704	G G	GATATATC others(429): Show GATATATCTGATATATCTGATATATATATATCTGATATATATCAGATATA TGATATATCTGATATATATCAGATATATGATATATCTGATATATATCAGA TATATGATATATCTGATATATATCAGATATATGATATATCTGATATATAT CAGATATATGATATATCTGATATATATCAGATATGATATATCTGATATAT ATCAGATATGATATATATGATATATATCATATATATGATATATATGATAT ATATCATATATATGATATATATGATATATATCATATATATGATATATATG ATATATATCATATATATGATATATATGATATATATGATATGATATATATG ATATGATATATATGATATATATGATATGATATATATGATATATATGATAT ATATGATATGATATATATGATATATATGATATGATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0199 a0001c0006t0026g0199	1	338	0.0030	436	c.583 others(451): Show c.583+244_583+245insATATCATATCATATATATCATATATATCAT ATCATATATATCATATATATCATATATATCATATCATATATATCATATAT ATCATATCATATATATCATATCATATATATCATATATATCATATATATGA TATATATCATATATATCATATATATGATATATATCATATATATCATATAT ATGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATCTGATATATATCAGATATATCATATCTGATATATATCAGATATATCAT ATATCTGATATATATCAGATATATCATATATCTGATATATATCAGATATA TCATATATCTGATATATATCAGATATATCATATATCTGATATATATCAGA TATATCATATATCTGATATATATCAGATATATATATATCAGATATATCAG ATATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(429): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATATATAATATAATATATATAATATATATATTATATATAATA TATATTATATATTATATATAATATATATTTATATATAATATATAAATATA ATTATATATTATATATAATATATAAATATATATTATATATTATATATAAT ATATATTTATATATTATATATTATATATAATATATATTTATATATTATAT ATAATATATAAATATATATTATATATATTTAATATATATTTTATATATAA ATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG01243.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0136 a0001c0001t0004g0137	2	188	0.0106	436	c.193 others(455): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATAATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATATTATATATAATATATATATTATATATATTATATTATA TATATTATATATATTATATTATATATATTATATATTATATATAATATATA TATTATATATAATATATATTATATATTATATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATTATATATTATATAT ATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(429): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACGTACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATGTATAAATACGTACATATTTATACATA TATGTATAAATACATATACATATTTATACATATATGTATAAATACATATA CATATTTATACATATATGTATAAATACATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	232	0.0043	436	c.43 others(447): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATAC ATATATGTATAAATATGTACGTATTTATACATATATGTATAAATATGTAC GTATTTATACATATATATGTATAAATATGTACGTATTTATACATATATAT GTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTAT TTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTAT AAATATGTACGTATTTATACATATATATGTATAAATATGTATGTATTTAT ACATATATATGTATAAATATGTATGTATACATATATGTATAAATATGTAT GTATTTATACATATATGTATTAATACGTATTTATACATATATGTATTAAT AC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1289937	T T	TCTGCTCC others(429): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	290	0.0035	436	c.166 others(453): Show c.1663-304_1663-303insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501476	A A	AATATATT others(429): Show AATATATTATTATATATTATAAAATATAATATATTATTATATATTATAAA ATATAATATATTATTATATATTATAAAATATAATATATTATTATATATTA TAAAATATAATATATTATTATATATTATAAAATATAATATATTATTATAT ATTATAAAATATAATATATTATTATATATTATAAAATATAATATATTATT ATATATTATAAAATATAATATATTATTATATATTATAAAATATAATATAT TATTATATATTATAAAATATAATATATTATTATATATTATAAAATATAAT ATATTATTATATATTATAAAATATAATATATTATTATATATTATAAAATA TAATATATTATTATATATTATAAAATATAATATATTATTATATATTATAA AATATAATATATTATTATATATTATAAAATATAATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	340	0.0029	436	c.17 others(455): Show c.174+9402_*174+9403insATATTATATTTTATAATATATAATAA TATATTATATTTTATAATATATAATAATATATTATATTTTATAATATATA ATAATATATTATATTTTATAATATATAATAATATATTATATTTTATAATA TATAATAATATATTATATTTTATAATATATAATAATATATTATATTTTAT AATATATAATAATATATTATATTTTATAATATATAATAATATATTATATT TTATAATATATAATAATATATTATATTTTATAATATATAATAATATATTA TATTTTATAATATATAATAATATATTATATTTTATAATATATAATAATAT ATTATATTTTATAATATATAATAATATATTATATTTTATAATATATAATA ATATATTATATTTTATAATATATAATAATATATTATATTTTATAATATAT AATAATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(429): Show ACACACCACACATACACACACACACACATACACACACACACACACATACA CACCACACACACATACCCACACACACACATACATACACACACACCACACA CCCCCACACACATACACACACACAAAAATACACATACACACAAACACACA AATACACACATACACACAAAAATACACATACACACAAACACACAAATACA CACACAGAAATACACATACATACACACACACACCCACATACCCACACACA CATACCCACACACCCACAAACACACATACACACACACACACAAATACACA CACATACATAACACACCCACACACATACACACACACAAACACACAAATAC ACACATACACATACAAAAATACACACATACACACACAAATACACACATAC ACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	150	0.0067	436	c.107 others(457): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTATGTGTGTGGGTG TGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTGTTTGTGG GTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGTATGT GTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGT GTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGTGT ATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTGGGTA TGTGTGTGTGGTGTGTATGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGT ATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246388505	T T	TAGGGGAC others(429): Show TAGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGT TGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAA TCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATT CATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTT GTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCT GGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCAAGGTTG AAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATC ACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCA TTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	150	0.0067	436	c.165 others(455): Show c.165-33412_165-33411insTAGAAACTGACTTCAACCTCGAGGTG ATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTC AACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCA GAAACTGACTTCAACCTTGAGGTGATTTTCAAGAATGAATGCTTTCTACA AGGAGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGA ATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAACCTCGAGGTGAT TTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAA CCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGA AACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAG GAGGTCCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(429): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	356	0.0028	436	c.-11 others(457): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TCATTATA others(429): Show TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATATAACATATAATGATATATAATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19000.hp2 NA19067.hp2 others(1): Show NA18991.hp2 NA19000.hp2 NA19067.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0022 a0001c0002t0010 a0001c0005t0003 a0001c0001t0022 a0001c0002t0010 a0001c0005t0003	a0001c0001t0022g0330 a0001c0001t0022g0331 a0001c0002t0010g0275 others(1): Show a0001c0001t0022g0330 a0001c0001t0022g0331 a0001c0002t0010g0275 a0001c0005t0003g0316	4	356	0.0112	436	c.-11 others(457): Show c.-112+29237_-112+29238insCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATATAACATATAATG ATATATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46184556	C C	CACCACCA others(429): Show CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACG GGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTG ATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGC CCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCC AGCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCAC ACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCC GGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCATCCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02257.hp1 HG02257.hp2 others(4): Show HG01167.hp2 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02976.hp2 HG03130.hp2 NA18906.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0017 a0001c0001 a0001c0003 a0010c0017	a0001c0001t0006 a0001c0003t0009 a0010c0017t0009 a0001c0001t0006 a0001c0003t0009 a0010c0017t0009	a0001c0001t0006g0035 a0001c0003t0009g0008 a0001c0003t0009g0036 others(3): Show a0001c0001t0006g0035 a0001c0003t0009g0008 a0001c0003t0009g0036 a0001c0003t0009g0037 a0001c0003t0009g0038 a0010c0017t0009g0039	7	251	0.0279	436	c.-11 others(447): Show c.-1160_-1159insCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGATGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACC CATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGT GCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTG GGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTG GT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		98		chr21	TogoVar
SRXN1_chr20_641615_658200	642169	G G	GGGCCCAG others(429): Show GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	422	0.0024	436	c.65 others(447): Show c.6544_*6545insACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4445		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(429): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0118 a0001c0001t0020g0118	1	202	0.0050	436	c.262 others(455): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTCTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCT CCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(429): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAGGG AAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAACA AGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAGGG AAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAGGG GGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAA GGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGG AAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGGGA AGAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18950.hp2 others(4): Show HG03490.hp1 HG03492.hp1 NA18950.hp2 NA18957.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0001t0001g0147	7	360	0.0194	436	c.40 others(447): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCCTTCCCTCCC CTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTT TC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(429): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGTGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAGGG AAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAACA AGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAGGG AAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAGGG GGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGAA GGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGG AAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGGGA AGAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	360	0.0028	436	c.40 others(447): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCACCCCTTCCCTCCC CTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTT TC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(429): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGG AGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGG GGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGGGAGAG GGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0210 a0002c0011t0001g0210	1	256	0.0039	436	c.22 others(447): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGG GAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGA GAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAG AGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGA GGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGG GGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGA GA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(429): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACATAAAACACACTCCACACATCATACACA CCACACACACTCCACACATCGTACACAAAACACACTCCACACATCATACA CAAAACACACTCCACACATCATACACACCACATACACTCCACACATCATA CACACACACTCCACACATCATACACACACACTCCACACGTCATACACACA CACACACTCCACACATCATACACAATACACACTCCACACATCATACACAA TACACACTCCACACATCATACACACACACTCCCACACATCATACACAATA CACACTCCACACATCATACACAAAACACACTCCACACATCATACACACAC ACTCCACACATCATGCACAATACACACACACTCCACA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	378	0.0027	436	c.819 others(453): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGGAGTGTGTGTGTATGATGTGTG GAGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTG GAGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAG TGTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAG TGTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGG AGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTG TGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TERT_chr5_1248167_1300068	1273520	A A	ACACATCA others(429): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC TGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CTGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACTGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03239.hp2 HG01975.hp1 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0082 a0001c0002t0001g0066 a0001c0002t0001g0082	2	392	0.0051	436	c.228 others(455): Show c.2287-1241_2287-1240insGTGACTGTGGATGGCAGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGT GATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACACAT others(429): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CTGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCC ACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACACA TCAGACCCCTGTGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0384 a0001c0024t0001g0384	1	392	0.0026	436	c.228 others(455): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACT GTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(429): Show AATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGATATAATTTC TGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGG AGGATATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTT CTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGAGGTTGATA TAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	408	0.0025	436	c.-41 others(447): Show c.-4177_-4176insATAATTTCTGGGGGAGGATATAATAATTTCTGGG GGAGGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGA TATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATAAAAT TTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGTTGATATAATTTCTGGGGGAGGATGATATAATAATTTCTGGGGG AAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTG AT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TRAF6_chr11_36478769_36515272	36507555	G G	GTGTACAC others(429): Show GTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTATAC ATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTAT ACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGT ATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATAC GTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATAT ACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTAT ATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGT ATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACAT GTATATACGTATACATGTGTACACATGTATGTGTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0275 a0001c0001t0010g0275	1	388	0.0026	436	c.-23 others(453): Show c.-23+2492_-23+2493insTATACACATACATGTGTACACATGTATA CGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTA TACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATG TATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACA TGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACA CATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTG TACACATGTATACGTATATACATGTGTACACATGTATACGTATATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATACA TGTGTACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(429): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTGTTTTTTGTTTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGC CCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTG CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAC AGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAGAGG GCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATC TGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02717.hp2 others(7): Show HG02055.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02976.hp1 HG03098.hp1 HG03540.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0043 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0043 a0001c0001t0059	a0001c0001t0003g0009 a0001c0001t0003g0031 a0001c0001t0003g0119 others(4): Show a0001c0001t0003g0009 a0001c0001t0003g0031 a0001c0001t0003g0119 a0001c0001t0003g0245 a0001c0001t0004g0052 a0001c0001t0043g0111 a0001c0001t0059g0009	10	402	0.0249	436	c.-32 others(447): Show c.-3217_-3216insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTTTTGAGACAAA GTCTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCAC TGCAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTA TTTTTAGTAGAGAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCT CCTGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACA GG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRIM48_chr11_55257155_55276114	55273403	A A	ATATATAT others(429): Show ATATATATATTATATATATAAAAATTATATATATATTATATATATATAAA TTATATATATATTATATATATATATAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAA TATATATATAAAAATTATACATATATTATATATATAAAAATTATACATAT ATTATATATATATATAAATTATACATATATTATATATATATAAAAATTAT ACATATATTATATATATATAAAAATTATACATATATTATATATATATAAA AATTATACATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0007 a0003c0004t0005g0007	1	272	0.0037	436	c.29 others(447): Show c.2968_*2969insTATATATATTATATATATAAAAATTATATATATA TTATATATATATAAATTATATATATATTATATATATATATAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATAATATATATATAAAAATTATACATATATTATATATAT AAAAATTATACATATATTATATATATATATAAATTATACATATATTATAT ATATATAAAAATTATACATATATTATATATATATAAAAATTATACATATA TTATATATATATAAAAATTATACATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA AT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2290		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(429): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATACATAAAAATTATATATATATTATATATACATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATAATATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	436	c.29 others(447): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATACATAAAAATTATATATATATTATAT ATACATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TAATATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(429): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTA AAGACCCCCACACACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACA CACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	224	0.0089	436	c.225 others(455): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTGT GTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGG TGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCT TTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029406	A A	ACCCCCAC others(429): Show ACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTA AAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0135 a0003c0003t0001g0135	1	224	0.0045	436	c.225 others(455): Show c.2251+1023_2251+1024insGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGG ATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTG TGTGTGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(429): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	341	0.0029	436	c.35 others(445): Show c.354_*355insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
WDR86_chr7_151376124_151415038	151397644	A A	ATAGCGGG others(429): Show ATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCAGGAGGA AGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGGAGG AAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTGGGAGGAAGGGCATAGCG GGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGG CGTAGCAGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAA GAGGGTGTAGCGGGAGGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAG GAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTGGGAGGAAGGGCATAGC GGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGGGCAT AGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02809.hp1 others(6): Show HG02258.hp2 HG02630.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0190 a0001c0001t0001g0217 a0001c0001t0001g0307 others(5): Show a0001c0001t0001g0190 a0001c0001t0001g0217 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0003g0041 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0028	9	458	0.0197	436	c.306 others(453): Show c.306-1449_306-1448insCACCCTCTTCCTCCCGCTACACCCTCTT CCTCCCGCTATGCCCTTCCTCCCGCTACACCCTCTTCCTCCCGCTATGCC CTTCCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTAC ACCCTCTTCCTCCCGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCCGC TACACCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCT CCTGCTACGCCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTACACCC TCTTCCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTA CACCCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTATGCCCTTCCTCCCG CTATGCCCTTCCTCCTGCTACACCCTCTTCCTCCCGCTACACCCTCTTCC TCCCGCTA	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(429): Show CATATGTGATATATATGGTACATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCACAT ATATATATCATATATATCACATATATATCATATATATCATATATATATCA TATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	350	0.0029	436	c.-34 others(447): Show c.-3494_-3493insATATGTGATATATATGGTACATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATCATATATA TGATATATATCACATATATATATCATATATATCACATATATATCATATAT ATCATATATATATCATATATATGATATATATCATATATATATCATATATA TG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(429): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCACATATATCACATGTGATATATGTCACATAT ATCACATGTGATATATATCATATATCATATATATGATATATATCATATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCACAT ATATATATCATATATATCACATATATATCATATATATCATATATATATCA TATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	350	0.0029	436	c.-34 others(447): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCACATATATCACATGTG ATATATGTCACATATATCACATGTGATATATATCATATATCATATATATG ATATATATCATATATATCATATATATGATATATATCATATATCATATATA TGATATATATCACATATATATATCATATATATCACATATATATCATATAT ATCATATATATATCATATATATGATATATATCATATATATATCATATATA TG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(429): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCACAT ATATATATCATATATATCACATATATATCATATATATCATATATATATCA TATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	350	0.0029	436	c.-34 others(447): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATCATATATA TGATATATATCACATATATATATCATATATATCACATATATATCATATAT ATCATATATATATCATATATATGATATATATCATATATATATCATATATA TG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(429): Show CATATGTGATATATATTGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATATATGATATATATCACATATATCATATATATGATATATATCAT ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ATATATCATATATATGATATATATCACATATATATATCATATATATCACA TATATATCATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	436	c.-34 others(447): Show c.-3494_-3493insATATGTGATATATATTGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATATATGATATATATCACATATATCATATA TATGATATATATCATATATATCATATATATGATATATATCATATATCATA TATATGATATATATCATATATCATATATATGATATATATCACATATATAT ATCATATATATCACATATATATCATATATATCATATATATATCATATATA TG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370987	C C	CATATGTG others(429): Show CATATGTGATATATATCATATGTGTGATATATGATATATATCATATGTGA TATATATCATATGTGATATATATCATATGTGATATATATGGTATATATGA TATATATCATATATCATATATATCATATGTGATATATATGATACATATGA CATATATCATATGTGATACATATGACATATATCATATGTGATACATATGA CATATATCATATGTGATACATGTCACATATATCACATGTGATATATGTCA CATATATCACATGTGATATATGTCACATATATCACATGTGATATATGTCA CATATATCACATGTGATATATATCATATATATCATATATATATGATATAT ATCATATATATATGATATATATCACATATATATATATGATATATATCACA TATATATCATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0092 a0001c0001t0013g0093	2	350	0.0057	436	c.-34 others(447): Show c.-3485_-3484insATATGTGATATATATCATATGTGTGATATATGAT ATATATCATATGTGATATATATCATATGTGATATATATCATATGTGATAT ATATGGTATATATGATATATATCATATATCATATATATCATATGTGATAT ATATGATACATATGACATATATCATATGTGATACATATGACATATATCAT ATGTGATACATATGACATATATCATATGTGATACATGTCACATATATCAC ATGTGATATATGTCACATATATCACATGTGATATATGTCACATATATCAC ATGTGATATATGTCACATATATCACATGTGATATATATCATATATATCAT ATATATATGATATATATCATATATATATGATATATATCACATATATATAT ATGATATATATCACATATATATCATATATATCATATATATATCATATATA TG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3381		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317949	C C	CCCCCCCC others(429): Show CCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAG ATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGACCACACAC CCCGCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGA TGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACACACCCC CCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGA AAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCC CCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCCAGACACAGAG ATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACACCCC ACCCCCCGAGGACACAGAGATGGAAAGACTACACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	282	0.0071	436	c.50 others(447): Show c.5083_*5084insCCCCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGAGAT GGAAAGACCACACACCCCGCCCAGACACAGAGATGGAAAGACCACACCCC CCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGA AAGACCACACACCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCC AGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAA AGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCC CCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATG GAAAGACCACACCCCACCCCCCGAGGACACAGAGATGGAAAGACTACACC TG	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4789		chr10	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AAGAAAGA others(430): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGA AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	376	0.0027	437	c.-11 others(448): Show c.-1194_-1193insAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAA GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ABR_chr17_998519_1184981	1118420	G G	GTTCCTCC others(430): Show GTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCC CGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTAT CCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCC AGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAG TCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTG AGCCTGAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18970.hp1 NA18995.hp2 others(1): Show HG02080.hp2 NA18970.hp1 NA18995.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0032	a0001c0001t0001g0181 a0001c0001t0002g0180 a0001c0001t0004g0297 others(1): Show a0001c0001t0001g0181 a0001c0001t0002g0180 a0001c0001t0004g0297 a0001c0001t0032g0303	4	337	0.0119	437	c.246 others(454): Show c.246+6762_246+6763insACTCAGGCTCAGGGTTAACGCTGGGAGG GACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGATAAC GCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAG GGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTC AGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGAT AACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGC TCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGA ACTCGGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGC TGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118420	G G	GTTCCTCC others(430): Show GTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCT GAGCCGGAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCC CGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTAT CCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCC AGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAG TCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTG AGCCTGAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0156 a0001c0001t0075g0156	1	337	0.0030	437	c.246 others(454): Show c.246+6762_246+6763insACTCAGGCTCAGGGTTAACGCTGGGAGG GACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGATAAC GCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAG GGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTC AGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGAT AACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGC TCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGA ACTCCGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGC TGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(430): Show GTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAG GGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACC TGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCC AGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCT GGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACG GGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGATCCAGGCA CACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGG TCCAGGCACACCTGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAG GGCTGGGGGTCCAGGCACACCTGTGGGAGGGCTGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0137 a0001c0001t0065g0137	1	337	0.0030	437	c.61+ others(454): Show c.61+26221_61+26222insTCCCCAGCCCTCCCACAGGTGTGCCTGG ACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCT CCCGCAGGTGTGCCTGGATCCCCAGCCCTCCCGCAGGTGTGCCTGGACCC CCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGC CTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGC AGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGC CCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGG ACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGT GTGCCTGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153592	C C	CCCAGGCA others(430): Show CCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGG GCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCT GCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGG GCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0325 a0001c0001t0007g0325	1	337	0.0030	437	c.61+ others(454): Show c.61+26074_61+26075insACCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAG GTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCC TCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACC CCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(430): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGA GGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGA AGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAA TGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGA GGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGG AAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGG AGGGGAGGGAGGGAGGAAGGGAAGGGAGGGGAGAGGAAGAGCAGGAGGAA GGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAG GAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(47): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02273.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0000 a0001c0004t0002g0000 a0002c0002t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0004t0002g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000	50	366	0.1366	437	c.-50 others(448): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAA GGAAGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAG GGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAG GGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGA AGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAA GGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAG AGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGGGAGGGGAGAG GAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAG GGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGG GGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(430): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGA GGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGA AGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAA TGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGGAGGAAGGAAGGAGGG AAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAG GAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGG GGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAA GGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAG GAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	366	0.0027	437	c.-50 others(448): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAA GGAAGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAG GGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAG GGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGG AGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGA AGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGG GAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAG GAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAG GGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGG GGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(430): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAT CCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCC CCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGC ACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCT GCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCAC CCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0015 a0008c0016t0015	a0008c0016t0015g0189 a0008c0016t0015g0189	1	268	0.0037	437	c.-36 others(448): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCT GCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACC CTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCAC TCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTC CCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTT CATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACC CTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(430): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGC ACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCT GCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCAC CCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0197 a0002c0002t0011g0197	1	268	0.0037	437	c.-36 others(448): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTC CCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTT CATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACC CTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(430): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAGG GAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAAC AAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAGG GAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAGG GGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAGA AGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGG GAAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGGG AAGAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	426	0.0024	437	c.-49 others(448): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCCCTTCCCTCC CCTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCT TTC	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4892		chr9	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(430): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTCTCTC TTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCCTCCCCTCCCTCCCTCCTTCCTTCCTTCTCT CTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	236	0.0042	437	c.482 others(454): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCCTCCCTCC CTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(430): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGCT GGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGGTGG GTAGGGTGGGGGAAGGGTGCGGGTGGGGTTGGGGAGGGGTGGGGTGGAGT GGGGGAAGGGTATGGGTGGGGCTGGGGAGGGGTGGGGTGGGAGGGGGAGG GGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGG GTGGGGGAAGGGTGCAGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGG GAGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0032 a0001c0008t0014 a0001c0008t0032	a0001c0008t0014g0167 a0001c0008t0032g0146 a0001c0008t0014g0167 a0001c0008t0032g0146	2	284	0.0070	437	c.712 others(454): Show c.712-2416_712-2415insCCCCCACCCACACCCTTCCCCCACCCCA CCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCTCCCCAGCCCCACCCATA CCCTTCCCCCACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCC CCCACCCTACCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCC AACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCAACCCTC CCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTTCCCCCACCCC AACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCC TCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC63_chr12_110841987_110912535	110905919	A A	ATATAATA others(430): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATAATATATATTATATAAAATATATATTATATTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	288	0.0035	437	c.154 others(456): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTTTATAAAATATATATTATATTATA TATAATATATATTTTATAAAATATATATTATATTATATAATATATATTAT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATAAAATATATATTATATTATTATAATA TATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905919	A A	ATATAATA others(430): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATAATATATATTATATAAAATATATATTATATTAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19005.hp1 HG02165.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0202 a0001c0001t0001g0067 a0001c0001t0002g0202	2	288	0.0069	437	c.154 others(456): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATATAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATAAAATATATATTATATTATTATAATA TATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	419877	G G	GTGTGTGT others(430): Show GTGTGTGTGCTGGGAGTGAGAGGATAAACACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGATAAATACACATAGCAGCACACTCCATGTT CCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGATAAACACACATAGCAGCACACTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0017	1	432	0.0023	437	c.413 others(454): Show c.413+1263_413+1264insATAAACACACATAGCAGCACACTCCATG TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGATAAATACACATAGCAGCACACTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGATAAACACACATAGCAGCACACTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGG AGTGAGAGG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420513	C C	CCTCCATG others(430): Show CCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0389 a0002c0002t0001g0389	1	432	0.0023	437	c.413 others(454): Show c.413+1884_413+1885insTTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACAT AGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAG TGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCA CACTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(430): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCCTCCCCTCCCC TCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	256	0.0039	437	c.-45 others(458): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCC TCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCC CTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar

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