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
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(460): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAAGAAA AAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGT TGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGAC CTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGAC TAAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTTGTAGA AATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCA CTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGC TGGGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	467	c.33 others(478): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAAGAAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGC AGGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCT CACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTC CTGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTA CTTTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACA CAGGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GALR1_chr18_77244848_77282900	77248111	T T	TGTGGGTT others(460): Show TGTGGGTTTTTTTATTTTTTATTTTTTATTTTTTATTTATTTTTTTTTTA AATTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTG CAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCAC CAACGTGTCATCTATCATTAGGTATATCTCCCACTGCTATCCCTCCCCCC TCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGC CCTTGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTG TTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATT TCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCA TAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCAT TGTTGGACATTTGGGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01258.hp1 NA18612.hp2 HG00280.hp2 HG01258.hp1 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0147 a0001c0002t0004g0178 a0001c0002t0007g0146 a0001c0002t0004g0147 a0001c0002t0004g0178 a0001c0002t0007g0146	3	366	0.0082	467	c.-24 others(478): Show c.-2438_-2437insGTGGGTTTTTTTATTTTTTATTTTTTATTTTTTA TTTATTTTTTTTTTAAATTTTTTTTTTATTATACTTTAAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCGCTGCACCCACCAACGTGTCATCTATCATTAGGTATATCTCCCACT GCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATA TTCCCCTTCCTGTGCCCTTGTGATCTCATTGTTCAATTCCCACCTATGAG TGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAA TGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCA TTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT AATCCAGTCTATCATTGTTGGACATTTGGGTTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		1736		chr18	TogoVar
GPIHBP1_chr8_143208218_143222170	143218345	C C	CCCAACAC others(460): Show CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCC AACACCACCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACC CCCCAACACCACCCCCAACACCACCACAACACCATCCCCAACACCACCCC CAATACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACC ACCCAACACCATCCCCCACACCACCCCCAACACCACCCCAACACCACCCC AACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCCCAACA CCATCCCCCACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAG CCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCC AACACCACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAACA CCACCCCCAACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	467	c.28 others(478): Show c.2827_*2828insCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCATCCCC AACACCCCAATAACCCCCCAACACCACCCCCAACACCACCACAACACCAT CCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCCAA CACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCAACACCA CCCCAACACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCA ACACCACCCCCAACACCATCCCCCACACCACCCCCAACACCACCCCCACA CTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCA CCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCC ACACCACCCCCAACACCACCCCCAACACCACCT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1176		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(460): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATTTATTTCTA TATATAAATATATATATTTATATATATAAATATATATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATTTATATTTA TATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19091.hp1 NA19000.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0019 a0001c0002t0005 a0001c0002t0019	a0001c0002t0005g0011 a0001c0002t0019g0013 a0001c0002t0005g0011 a0001c0002t0019g0013	2	208	0.0096	467	c.-97 others(484): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATTTATT TCTATATATAAATATATATATTTATATATATAAATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATATTTATATATATTTATA TTTATATATATTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(460): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATTTATTTCTA TATATAAATATATATATTTATATATATAAATATATATTTATATATATAAA TATATATATTTATATTTATAAATATATATATTTATATATATTTATATTTA TATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19063.hp1 NA20752.hp1 HG01123.hp1 NA19063.hp1 NA20752.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0009 a0001c0002 a0012c0009	a0001c0002t0005 a0012c0009t0012 a0001c0002t0005 a0012c0009t0012	a0001c0002t0005g0009 a0001c0002t0005g0012 a0012c0009t0012g0157 a0001c0002t0005g0009 a0001c0002t0005g0012 a0012c0009t0012g0157	3	208	0.0144	467	c.-97 others(484): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATTTATT TCTATATATAAATATATATATTTATATATATAAATATATATTTATATATA TAAATATATATATTTATATTTATAAATATATATATTTATATATATTTATA TTTATATATATTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(460): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTCTACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATTTATTTCTA TATATAAATATATATATTTATATATATAAATATATATTTATATATATAAA TATATATATTTATATTTATAAATATATATATTTATATATATTTATATTTA TATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0006	1	208	0.0048	467	c.-97 others(484): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTCTACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATTTATT TCTATATATAAATATATATATTTATATATATAAATATATATTTATATATA TAAATATATATATTTATATTTATAAATATATATATTTATATATATTTATA TTTATATATATTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(460): Show TTTTAAATATATAAAATACACTGTTTTATAATATTTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATAT ATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0158 a0001c0001t0002g0061 a0001c0001t0002g0158	2	168	0.0119	467	c.132 others(486): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATA TAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATA TATTTAAAATATTATAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(460): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03491.hp1 NA18941.hp1 others(11): Show HG02735.hp2 HG03491.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18951.hp2 NA18956.hp2 NA18964.hp2 NA18977.hp2 NA19002.hp2 NA19057.hp1 NA19057.hp2 NA19078.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0008 a0027	a0002c0002 a0004c0006 a0005c0019 others(2): Show a0002c0002 a0004c0006 a0005c0019 a0008c0008 a0027c0016	a0002c0002t0001 a0004c0006t0001 a0005c0019t0001 others(2): Show a0002c0002t0001 a0004c0006t0001 a0005c0019t0001 a0008c0008t0001 a0027c0016t0002	a0002c0002t0001g0068 a0002c0002t0001g0115 a0002c0002t0001g0117 others(11): Show a0002c0002t0001g0068 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0131 a0002c0002t0001g0132 a0004c0006t0001g0020 a0005c0019t0001g0022 a0008c0008t0001g0011 a0008c0008t0001g0021 a0008c0008t0001g0023 a0027c0016t0002g0009	14	155	0.0903	467	c.488 others(482): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(460): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0244 a0001c0007t0002g0244	1	408	0.0025	467	c.633 others(484): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(460): Show TATATTTTATTTTATTTTATTTTTGATTTTATTTTATTTTATTTATTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	394	0.0025	467	c.41- others(482): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAATAA AATAAAATAAAATCAAAAATAAAATAAAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IL3RA_chrX_1331785_1387689	1372439	G G	GCACAGGG others(460): Show GCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGAGGCCTCAGGAGG AACCAGCCTTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGT GGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTG TGACAGCAGCCTGAGATGGACTAAGACACCTCATAAGAAGAGGAGATGAG GACACAGACACACACGGAGGAACAACCCTGTGAGGACACAGGGAGAAGAC GGCATCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCCTGCCCA CACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTG TTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAA ACGGACTAAGACATCCCATAAAAAGGAGATGAGGACACAGACACACACGG AGGGACGACCCTGTGGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0006	1	115	0.0087	467	c.875 others(484): Show c.875-6184_875-6183insAGGCCTCAGGAGGAACCAGCCTTGCCCA CACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTG TTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAG ATGGACTAAGACACCTCATAAGAAGAGGAGATGAGGACACAGACACACAC GGAGGAACAACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCC AGGAGAGAGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAAACGGACTAAGACATC CCATAAAAAGGAGATGAGGACACAGACACACACGGAGGGACGACCCTGTG GGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(460): Show TAAGAAAAGAAAGAAAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0114 a0002c0003t0001g0114	1	308	0.0033	467	c.127 others(486): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTCTTTTCTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
ITGA11_chr15_68291532_68437163	68400708	A A	AATATTAT others(460): Show AATATTATATTATATATTATATAATAAATATTATATTATATATTATATAA TAAATATTATATTATATATTATATAATAAATATTATATTATATATTATAT AATAAATATTATATTATATATTATATAATAAATATTATATTATATATTAT ATAATAAATATTATATTATATATTATATAATAAATATTATATTATATATT ATATAATAAATATTATATTATATATTATATAATAAATATTATATTATATA TTATATAATAAATATTATATTATATATTATATAATAAATATTATATTATA TATTATATAATAAATATTATATTATATATTATATAATAAATATTATATTA TATATTATATAATAAATATATTATATATTATATAATAAATATTATATTAT ATATTATATAATAAATATTATATTATATATTATATAATAAATATATTATA TATTATATAATAAATATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0063 a0012c0027t0063	a0012c0027t0063g0236 a0012c0027t0063g0236	1	242	0.0041	467	c.164 others(484): Show c.164+2209_164+2210insAATATTTATTATATAATATATAATATAT TTATTATATAATATATAATATAATATTTATTATATAATATATAATATAAT ATTTATTATATAATATATAATATATTTATTATATAATATATAATATAATA TTTATTATATAATATATAATATAATATTTATTATATAATATATAATATAA TATTTATTATATAATATATAATATAATATTTATTATATAATATATAATAT AATATTTATTATATAATATATAATATAATATTTATTATATAATATATAAT ATAATATTTATTATATAATATATAATATAATATTTATTATATAATATATA ATATAATATTTATTATATAATATATAATATAATATTTATTATATAATATA TAATATAATATTTATTATATAATATATAATATAATATTTATTATATAATA TATAATATAATATTTATTATATAATATATAATATAATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
KIF1A_chr2_240708767_240825219	240786775	A A	AGGAACCC others(460): Show AGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA CCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAG GGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGC TGGGCCCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA CCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCA GGACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAGG GGGTGGGGGCTGCCTGCT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0001 a0005c0039t0001	a0005c0039t0001g0197 a0005c0039t0001g0197	1	330	0.0030	467	c.430 others(482): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCC CCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGG GGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTA CCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGG TCCTGATGGCAGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCC CACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTCAGG GGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTA CCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGG TCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCTCCCCC others(460): Show TCTCCCCCTCCTCCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCC TCCCTCTCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCTC CCCCTCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTC CCCCTCCTCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCC CTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGCTCCCC TCCCCCTCCTCCCTCTCCTCCCCCTCCCCCTCCTCCCTCTCCTCCCCCTT CCCCTCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCC TCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCC CTCTCTTCCCCCTGCTCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0049 a0001c0001t0023g0049	1	400	0.0025	467	c.121 others(486): Show c.1214-2392_1214-2391insTCCCCCTCCTCCCCCCCTCCCCCTCC TCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCCTCCTCCCCCTTC CCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCCCTCCT CCTCCCCCTCCTCCCTCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCC TCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCC CTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCT CCCTCTCCTCCCCCTGCTCCCCTCCCCCTCCTCCCTCTCCTCCCCCTCCC CCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCCTC CCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTC TCCTCCCCCTCCTCTCCCCTCCCTCTCTTCCCCCTGCTCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(460): Show ATATATATATATATATATATACATACATATATATATATATACATACATAT ATATATATATACATACATATATATATACATACATACATATATATATATAT ACATACATACATATATATATATACATACATATATATATATACATACATAT ATATATATATATACACATACATATATATATACATACATATATATATATAT ACATACATATATATATATACATACATATATATATACACATACATATATAT ATATACATACATATATATATATATACACATATATATATATACATACATAT ATATATACATACATATATATATATACACATACATATATATATATACACAT ATATATATATACACACATATATATATATACACATATATATATACACATAT ACATATATATATATACATACACATATATATATATATATATATGTATATAT ATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0162 a0001c0004t0001g0162	1	300	0.0033	467	c.218 others(482): Show c.218+246_218+247insATATATATATATATATATACATACATATAT ATATATATACATACATATATATATATATACATACATATATATATACATAC ATACATATATATATATATACATACATACATATATATATATACATACATAT ATATATATACATACATATATATATATATATACACATACATATATATATAC ATACATATATATATATATACATACATATATATATATACATACATATATAT ATACACATACATATATATATATACATACATATATATATATATACACATAT ATATATATACATACATATATATATACATACATATATATATATACACATAC ATATATATATATACACATATATATATATACACACATATATATATATACAC ATATATATATACACATATACATATATATATATACATACACATATATATAT ATATATATATGTATATATATATATATATATATGTATT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(460): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCA GTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	294	0.0034	467	c.153 others(486): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(460): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGT GGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	294	0.0034	467	c.153 others(486): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCATCCCGAGACACCACTGCACA CCCATCCCGTGACACCACTGCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(460): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATATATAATTATATATTATATAATAATATATAA TTATATATTATATATAATATATAATTATATATTATATAATAATATATAAT TATTAATATATAATTATATATAATATATAATTATATATTATATAATAATA TATAATTATATATTATATATAATTATATATTATATAATAACATATAATTA TATATAATATATAAATATATAATATATAAATATATAATATATAAATATAT AATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	316	0.0032	467	c.622 others(482): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATATAATATATAATTATATATTATATAATAATATATAAT TATATATTATATATAATATATAATTATATATTATATAATAATATATAATT ATTAATATATAATTATATATAATATATAATTATATATTATATAATAATAT ATAATTATATATTATATATAATTATATATTATATAATAACATATAATTAT ATATAATATATAAATATATAATATATAAATATATAATATATAAATATATA ATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(460): Show TATTATATATAATATATATACATATTATATATATTATATATATACATATA TATGTATATATACATATATAATATGTATATATGTATATATATGTATAATA TATATATTGTATATATATATTATACATATGTATATATATATTATACATAT ATATATGTATAATATATATAATGTATATATATACATATTATATATTATAT ATAATATATACATATATATTATATATAATATATACATATTATATATTATA TATATAATATATATACATATTATATTATATATAATATATATACATATTAC ATATATTATATATAATATATATACATATATAATATATTATATATTATATA TAATATATATAATATATAATATATATATAATATAATATATTATATATTAT ATATAATATATATAATATATAATATATTATATATAATATATATAATATAT AATATATTATATAATATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0315 a0001c0002t0001g0315	1	332	0.0030	467	c.262 others(486): Show c.2620-6201_2620-6200insATTATATATAATATATATACATATTA TATATATTATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATGTATAATATATATATTGTATATATATATTATACAT ATGTATATATATATTATACATATATATATGTATAATATATATAATGTATA TATATACATATTATATATTATATATAATATATACATATATATTATATATA ATATATACATATTATATATTATATATATAATATATATACATATTATATTA TATATAATATATATACATATTACATATATTATATATAATATATATACATA TATAATATATTATATATTATATATAATATATATAATATATAATATATATA TAATATAATATATTATATATTATATATAATATATATAATATATAATATAT TATATATAATATATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(460): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGCGGCGATGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTA GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGG TGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTG GTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	384	0.0026	467	c.160 others(484): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACTACTGCCACC GCCGCCACCATCACCACCACCACCACCACCATCACCACCACCACCACTAC TGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCA CCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCGCCACCACCACCACCACCACCATCGCCGCCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCGCCG CCACCACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667664	T T	TCCTTACC others(460): Show TCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTCC CTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCT TACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCT GCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCCCCCTTAC CCACAACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	378	0.0027	467	c.148 others(486): Show c.1480-2915_1480-2914insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT TGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTTGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGG GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGC GGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAG TAGTGGGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTAGCCTG others(460): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGT GTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	467	c.26 others(478): Show c.2690_*2691insTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(460): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATAGTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATAATATATATTATATATAAAGTATATATATAATATATATTA TATATAAAGTATATATATAATATATATTATATATATATAAAATATATAAT ATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19081.hp2 NA19054.hp1 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0238 a0001c0003t0003g0103 a0001c0003t0003g0238	2	308	0.0065	467	c.730 others(484): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATACTATATATTATATATATTATATATATACTTTATATATAATA TATATTATATATATTATATATATACTTTATATATAATATATATTATATAT ATTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(460): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATAATATATATTATATATAAAGTATATATATAATATATATTA TATATAAAGTATATATATAATATATATTATATATATATAAAATATATAAT ATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02027.hp1 HG02040.hp2 others(8): Show HG00609.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02523.hp1 NA18944.hp2 NA18948.hp2 NA18979.hp1 NA18987.hp1 NA19087.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0003 a0004c0029 a0018c0018 a0001c0003 a0004c0029 a0018c0018	a0001c0003t0003 a0001c0003t0006 a0004c0029t0003 others(1): Show a0001c0003t0003 a0001c0003t0006 a0004c0029t0003 a0018c0018t0003	a0001c0003t0003g0151 a0001c0003t0003g0227 a0001c0003t0003g0236 others(8): Show a0001c0003t0003g0151 a0001c0003t0003g0227 a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0003t0003g0246 a0001c0003t0006g0301 a0001c0003t0006g0303 a0001c0003t0006g0304 a0001c0003t0006g0305 a0004c0029t0003g0136 a0018c0018t0003g0132	11	308	0.0357	467	c.730 others(484): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATAATA TATATTATATATATTATATATATACTTTATATATAATATATATTATATAT ATTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NTN3_chr16_2466297_2479145	2466524	A A	ATACAAAA others(460): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAGGCA GGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAG GCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAA CCTCGTCTCTACTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02922.hp2 HG02970.hp2 others(2): Show HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03579.hp1 NA20300.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0009 a0002c0002 a0011c0009	a0002c0002t0002 a0011c0009t0001 a0002c0002t0002 a0011c0009t0001	a0002c0002t0002g0001 a0011c0009t0001g0001 a0002c0002t0002g0001 a0011c0009t0001g0001	5	300	0.0167	467	c.-51 others(478): Show c.-5178_-5177insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTT GGAAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTG ACCAACATGGTGAAACCTCGTCTCTACTAAAAC	NTN3	ENSG00000162068.2	transcript	ENST00000293973.2	protein_coding		4772		chr16	TogoVar
NTN3_chr16_2466297_2479145	2466524	A A	ATACAAAA others(460): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAGGCA GGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAG GCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAA CCTCGTCTCTACTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03579.hp2 NA19043.hp1 HG03486.hp1 HG03579.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0001 a0001c0001t0001g0001 a0002c0002t0002g0001	3	300	0.0100	467	c.-51 others(478): Show c.-5178_-5177insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTT GGAAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTG ACCAACATGGTGAAACCTCGTCTCTACTAAAAC	NTN3	ENSG00000162068.2	transcript	ENST00000293973.2	protein_coding		4772		chr16	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGGT others(460): Show GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG01081.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0008 a0001c0001t0022g0103 a0001c0001t0001g0008 a0001c0001t0022g0103	2	155	0.0129	467	c.155 others(486): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCTGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGGT others(460): Show GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02132.hp1 HG02630.hp2 others(6): Show HG00735.hp2 HG02132.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG03209.hp1 HG03490.hp1 HG03516.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0143 a0001c0001t0002g0124 a0001c0001t0002g0144 others(6): Show a0001c0001t0001g0143 a0001c0001t0002g0124 a0001c0001t0002g0144 a0001c0001t0003g0113 a0001c0001t0004g0005 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0005g0152 a0001c0001t0016g0119	9	155	0.0581	467	c.155 others(486): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGTC others(460): Show GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGTCAGC CCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	155	0.0065	467	c.155 others(486): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCTGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCG GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237811	A A	AGTATATA others(460): Show AGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATACTCTATAGTATATATAGTATATATAGTATATATACTATATGTACTAT ATAGTACATATAGTATATATACTATATGTACTATATATACTATAGAGTAT ATATACTATATATAGTATATATACTCTATAGTATATATAGTACATATAGT ATATATAGTATATATAGTATATAGTACATATAGTATATATAGTATATATA GTATATAGTATATATTTTATAGTATATATAGTATATATACTATATAGTAT ATATTATATAGTATATATACTATAAAGTACATAATTTATATATTACATAT AATACATAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	439	0.0023	467	c.-15 others(478): Show c.-1532_-1531insGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATA TACTATATGTACTATATAGTACATATAGTATATATACTATATGTACTATA TATACTATAGAGTATATATACTATATATAGTATATATACTCTATAGTATA TATAGTACATATAGTATATATAGTATATATAGTATATAGTACATATAGTA TATATAGTATATATAGTATATAGTATATATTTTATAGTATATATAGTATA TATACTATATAGTATATATTATATAGTATATATACTATAAAGTACATAAT TTATATATTACATATAATACATAATATATATTT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1474		chr14	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCT others(460): Show CCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCC CCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTC CCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCC TCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCT CCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCC TCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC ACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCC TCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0229 a0001c0001t0015g0229	1	308	0.0033	467	c.226 others(486): Show c.2262+7511_2262+7512insTCCTCCCCCTCCCTTCCCCCTCCTCC CCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTC CCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCC CCCTCCTTCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCT CCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCC CCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCT CCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLEKHN1_chr1_961482_980865	977128	C C	CCAACCCG others(460): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	422	0.0024	467	c.25 others(478): Show c.2553_*2554insCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1264		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCG others(460): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0001 a0001c0001t0032g0001	1	422	0.0024	467	c.25 others(478): Show c.2585_*2586insCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(460): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTT CTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCTC CTTCTCTCCTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp2 HG00099.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0116 a0001c0001t0004g0117 a0001c0001t0001g0116 a0001c0001t0004g0117	2	312	0.0064	467	c.306 others(486): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(460): Show GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTAGCGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTGGTTAGGTTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGGGTCA CGGCTATAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	286	0.0035	467	c.335 others(486): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGT GGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGGGTCACGGCTATAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	504407	T T	TTCCTGTA others(460): Show TTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCCTCACCTCCTGTACCCCCCCTCACCTCCTCCTGTACCCGCCTCA CCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCA CCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAAC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTC CTGTACCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	295	0.0034	467	c.139 others(486): Show c.1396-1112_1396-1111insTACCCGCCTCACCTCCTCCTGCACTC CCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTA CCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCCTCACCT CCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACC CCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCACCTCCTCCTG TACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831035	C C	CCTCCCTC others(460): Show CCTCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCTCCCTCCCTCCCCT CCCCTCCTTCCCTCTCCTTCCTTCCCCTCCCCTCCCCTCCTCCCTCCCTT TCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTA CACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTA CACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTC CCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCT CCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCC CCTCCCCTCCCTTTCCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0185 a0001c0002t0044g0185	1	218	0.0046	467	c.80+ others(484): Show c.80+30485_80+30486insCTCCCTCCCCTTCCCTCCCTTTCCCTCC CCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCTC CCCTCCCTCCCTCCCTCCCCTCCCCTCCTTCCCTCTCCTTCCTTCCCCTC CCCTCCCCTCCTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCT CCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACT TCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTT TCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCT CCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTT CCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RNF213_chr17_80255852_80403794	80274697	G G	GTGAGTGG others(460): Show GTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTG GGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAT GGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGT GAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGG TGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGG GGTGTGGGGTGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp2 HG02004.hp2 others(19): Show HG00741.hp1 HG01168.hp2 HG02004.hp2 HG02071.hp1 HG02083.hp2 HG03491.hp1 HG03831.hp2 HG06807.hp1 NA18944.hp1 NA18947.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp2 NA18980.hp2 NA18990.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19030.hp2 NA19065.hp1 NA19077.hp2 NA19082.hp1	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0011 a0030 a0050 a0055 a0083 a0088 a0102	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0003c0005 a0006c0009 a0011c0035 a0011c0036 a0030c0024 a0050c0079 a0055c0082 a0083c0052 a0088c0130 a0102c0068	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0007 a0003c0005t0007 a0003c0005t0011 a0006c0009t0005 a0006c0009t0009 a0011c0035t0042 a0011c0035t0043 a0011c0036t0020 a0030c0024t0013 a0030c0024t0074 a0050c0079t0010 a0055c0082t0002 a0083c0052t0073 a0088c0130t0051 a0102c0068t0019	a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0267 others(19): Show a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0002g0263 a0001c0003t0001g0259 a0001c0003t0001g0271 a0001c0003t0002g0266 a0001c0004t0007g0268 a0003c0005t0007g0274 a0003c0005t0011g0253 a0006c0009t0005g0273 a0006c0009t0009g0265 a0011c0035t0042g0281 a0011c0035t0043g0280 a0011c0036t0020g0283 a0030c0024t0013g0260 a0030c0024t0074g0262 a0050c0079t0010g0251 a0055c0082t0002g0269 a0083c0052t0073g0242 a0088c0130t0051g0256 a0102c0068t0019g0252	22	292	0.0753	467	c.261 others(484): Show c.261+1293_261+1294insTGAGTGGGGTGAATGTGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGCGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGGGAGTGA GTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGA GTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGG GTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGG GTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGT GTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGTCTGTGGGGGGTGTGGGGTGAGTGTGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67			chr17	TogoVar
RPH3AL_chr17_207389_357807	340553	C C	CACCCAGG others(460): Show CACCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCTCCC CACATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACGTCCACACTCA CTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCA GGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTC CACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCT CCCACCCAGGCCTCCCCACATCCACACTCACTGCCCTGGGCCCAGGCCTC CCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACACT CACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACC CAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACA TCCAATCTCACTGCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	133	0.0075	467	c.-21 others(486): Show c.-212-6620_-212-6619insCGGGGCAGTGAGATTGGATGTGGGGA GGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAG GCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGA CGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTG GGCCCAGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTG AGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG AGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTG GACGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(460): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACCTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCA GGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATC CACACTCACTGCCCCCCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	467	c.-21 others(486): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAG TGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGGGGAGGCCTGGGTGG GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGAGGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(460): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCA GGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATC CACACTCACTGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01070.hp2 others(45): Show HG00408.hp1 HG00544.hp2 HG01070.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02572.hp1 HG02698.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp2 HG03540.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18947.hp2 NA18951.hp2 NA18959.hp2 NA18963.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19056.hp2 NA19079.hp1 NA19088.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0008 a0010 a0011 a0015 a0017	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0023 a0002c0013 a0004c0018 a0006c0021 a0008c0011 a0010c0010 a0011c0014 a0015c0024 a0017c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0018 a0001c0004t0001 a0001c0004t0026 a0001c0006t0004 a0001c0023t0007 a0002c0013t0001 a0004c0018t0003 a0006c0021t0007 a0008c0011t0001 a0010c0010t0005 a0011c0014t0023 a0015c0024t0004 a0017c0007t0014	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0110 others(45): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0004g0021 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0006g0072 a0001c0001t0007g0097 a0001c0001t0008g0042 a0001c0001t0010g0129 a0001c0001t0011g0056 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0014g0025 a0001c0001t0014g0106 a0001c0001t0015g0036 a0001c0001t0017g0070 a0001c0001t0020g0127 a0001c0001t0022g0071 a0001c0001t0032g0004 a0001c0001t0034g0018 a0001c0002t0001g0057 a0001c0002t0001g0073 a0001c0002t0003g0033 a0001c0002t0009g0126 a0001c0003t0018g0019 a0001c0004t0001g0050 a0001c0004t0026g0014 a0001c0006t0004g0022 a0001c0023t0007g0026 a0002c0013t0001g0016 a0004c0018t0003g0037 a0006c0021t0007g0112 a0008c0011t0001g0054 a0010c0010t0005g0035 a0011c0014t0023g0125 a0015c0024t0004g0013 a0017c0007t0014g0023	48	133	0.3609	467	c.-21 others(486): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAG TGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGGGGAGGCCTGGGTGG GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(460): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCATTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCA GGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATC CACACTCACTGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03516.hp1 HG02723.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0003g0101 a0001c0001t0001g0089 a0001c0001t0003g0101	2	133	0.0150	467	c.-21 others(486): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAG TGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTCGGGGCAATGAGATTGGATGTGGGGAGGCCTGGGTGG GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(460): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCATTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCTGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCA GGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATC CACACTCACTGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19043.hp2 HG02895.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0017 a0001c0003 a0002c0017	a0001c0003t0028 a0002c0017t0005 a0001c0003t0028 a0002c0017t0005	a0001c0003t0028g0088 a0002c0017t0005g0020 a0001c0003t0028g0088 a0002c0017t0005g0020	2	133	0.0150	467	c.-21 others(486): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGAGCCCAGGGCAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAG TGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTCGGGGCAATGAGATTGGATGTGGGGAGGCCTGGGTGG GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(460): Show TAATATATAATATATATAATATATTATATATAATATATAATATATATAAT ATATATAATATATAATATATAATATATAATATATATAATATATAATATAT ATTATATATAATATATATATTATATATAATATATAATATATATAATATAA TATATATAATATAATATATATATTATATATAATATATATTATATATTATA TATAATATATATTATATATAATATATAAATATATATTATATATAATATAT AATATATAATTATATATTATATATTATATATAATATATATTTATATATAA TATATAAATATAATTATATATTATATATAATATATAAATATATATTATAT ATAATATATAATATATATTTATATATTATATATAATATATAAATATATAT TATATATATTTAATATATATTTTATATATAAATTATATATTATATATATT TAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	188	0.0053	467	c.193 others(486): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATTATATATAATA TATATTTATATATTATATATAATATATAATTATATTTATATATTATATAT AAATATATATTATATATAATATATAATATATAATTATATATTATATATTA TATATAATATATATTTATATATTATATATAATATATATTATATATAATAT ATAATATATATTATATATAATATATATATTATATTATATATATTATATTA TATATATTATATATTATATATAATATATATATTATATATAATATATATTA TATATTATATATATTATATATTATATATTATATATTATATATATTATATA TATTATATATTATATATAATATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(460): Show TTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	332	0.0030	467	c.632 others(484): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTGTTTATAAA TACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTGTTTATAAATACTGTATTTGTTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(460): Show TTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTGTTTATAAATAC TGTATTTGTTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	332	0.0030	467	c.632 others(484): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTGTTTATAAA TACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(460): Show TTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTGTTTATAAATAC TGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	332	0.0030	467	c.632 others(484): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTGTTTATAAA TACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGTTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(460): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp2 NA18959.hp1 others(3): Show HG00408.hp1 HG02056.hp2 NA18959.hp1 NA18975.hp2 NA18991.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0001 a0001c0001t0041	a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0246 others(3): Show a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0041g0224	6	332	0.0181	467	c.632 others(484): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDK1_chr7_3296252_4274000	3976187	A A	AGGGTCCC others(460): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0013 a0001c0039t0013	a0001c0039t0013g0038 a0001c0039t0013g0038	1	116	0.0086	467	c.199 others(486): Show c.1994+1743_1994+1744insGGGGTCCCGGGGCTGAGGCTGCGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar

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