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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(281): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02258.hp1 others(2): Show HG01243.hp1 HG01884.hp1 HG02258.hp1 HG03471.hp2 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0082 a0003c0010 a0003c0039 others(1): Show a0002c0082 a0003c0010 a0003c0039 a0003c0068	a0002c0082t0004 a0003c0010t0006 a0003c0039t0004 others(1): Show a0002c0082t0004 a0003c0010t0006 a0003c0039t0004 a0003c0068t0024	a0002c0082t0004g0366 a0003c0010t0006g0017 a0003c0010t0006g0018 others(2): Show a0002c0082t0004g0366 a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0039t0004g0251 a0003c0068t0024g0247	5	138	0.0362	288	c.180 others(307): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTG TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGA TAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203317	A A	ACACATAT others(281): Show ACACATATGTGTATATATGTGTGTATATGTGTATATACACATACATGTGT GTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATAC ACATACACATACATGTGTGTATATGTGTATATACACATACACATACATGT GTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATAT ACACATACACATACATGTGTGTATATGTGTATATACACATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0254 a0005c0005t0001g0254	1	313	0.0032	288	c.88- others(305): Show c.88-34651_88-34650insCACATATGTGTATATATGTGTGTATATG TGTATATACACATACATGTGTGTATATGTGTATATACACATACACATACA TGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTA TATACACATACACATACATGTGTGTATATGTGTATATACACATACACATA CATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTG TATATACACATACACATACATGTGTGTATATGTGTATATACACATACACA TACATGTGTG		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51						chr2	TogoVar
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGAG others(281): Show AGGGAGAGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02132.hp1 others(13): Show HG00673.hp1 HG02027.hp2 HG02132.hp1 HG02155.hp2 HG02293.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18948.hp1 NA18990.hp1 NA19002.hp1 NA19004.hp1 NA19066.hp2 NA19074.hp1 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0153 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0153 a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0058 a0001c0002t0001g0154 a0001c0002t0008g0002	16	377	0.0424	288	c.630 others(301): Show c.630+66_630+67insAGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCG GGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG GGGGAG		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGGG others(281): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGG AGAGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0134 a0001c0004t0002g0134	1	362	0.0028	288	c.630 others(303): Show c.630+131_630+132insTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GAGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGG		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(281): Show AGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0338 a0001c0003t0001g0338	1	220	0.0045	288	c.630 others(303): Show c.630+131_630+132insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGG		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(281): Show AGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGCGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02886.hp1 NA20129.hp2 HG01106.hp1 HG02886.hp1 NA20129.hp2	a0003 a0003	a0003c0007 a0003c0021 a0003c0007 a0003c0021	a0003c0007t0001 a0003c0021t0002 a0003c0007t0001 a0003c0021t0002	a0003c0007t0001g0094 a0003c0007t0001g0095 a0003c0021t0002g0096 a0003c0007t0001g0094 a0003c0007t0001g0095 a0003c0021t0002g0096	3	222	0.0135	288	c.630 others(303): Show c.630+131_630+132insTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGCGGGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGG		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(281): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01255.hp1 HG01346.hp2 others(14): Show HG01167.hp1 HG01255.hp1 HG01346.hp2 HG03239.hp1 HG03834.hp2 NA18948.hp1 NA18957.hp1 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18981.hp1 NA18985.hp1 NA18989.hp2 NA18994.hp2 NA19058.hp2 NA19068.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138	17	290	0.0586	288	c.51+ others(303): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATA		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5						chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287075	G G	ATAGCATG others(281): Show ATAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACAT ACTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAG CATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTA TGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATG TATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTA TATCATGTAGCATGTATACTACATACTATGTATATCATG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	128	0.0078	288	c.51+ others(303): Show c.51+2287_51+2288insATGATATACATAGTATGTAGTATACATGCT ACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTAT GTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACAT GATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAG TATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATA TACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATA CATGCTAT		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5						chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287108	T T	TAGCATGT others(281): Show TAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATA CTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGC ATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTAT GTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGT ATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTAT ATCATGCAGCATGTATACTACATACTATGTATATCATGC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	443	0.0023	288	c.51+ others(303): Show c.51+2253_51+2254insGCATGATATACATAGTATGTAGTATACATG CTGCATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGT ATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTAC ATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGT AGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGA TATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTA TACATGCT		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5						chr11	TogoVar
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCGT others(281): Show GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	210	0.0048	288	c.928 others(303): Show c.928-427_928-426insCACCCACAGAAACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCGCGTGTTACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597997	C C	CGTCCACC others(281): Show CGTCCACCCATCCCCCCACCCATCCGTCCACCCATCTGTCCACCCGTCCG TCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATC CCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATC CACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCA TCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0165 a0001c0002t0004g0165	1	277	0.0036	288	c.13 others(299): Show c.1376_*1377insGTCCACCCATCCCCCCACCCATCCGTCCACCCAT CTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCC ATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGC CCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCC ATCT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					752		chr16	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(281): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCC CAGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCC AGCAGGCGGATGCCCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAG CAGGCGGATGCCCAGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCAC CTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	173	0.0058	288	c.189 others(303): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGT TGGGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGGTGGTT GGGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTG GTGGGGAG		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37						chr8	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(281): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAG TGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCAC CATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	146	0.0068	288	c.-16 others(299): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTCTCTCTG TGGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTA GACACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTC GTGA		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1379		chr14	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(281): Show TGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAGGGGA GGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGGGGAGGGGGAGGGGAG GGAGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGG GGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0003 a0001c0114t0003	a0001c0114t0003g0119 a0001c0114t0003g0119	1	16	0.0625	288	c.416 others(309): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CTCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCT CCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCC CTCACATCCCCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(281): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03579.hp2 HG02280.hp1 HG02572.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0149 a0003c0003t0001g0153 a0003c0003t0002g0366 a0003c0003t0001g0149 a0003c0003t0001g0153 a0003c0003t0002g0366	3	275	0.0109	288	c.-27 others(309): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAATTTTAGCAAAT		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
DEAF1_chr11_639233_700222	640090	G G	GCCGCGCC others(281): Show GCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGC CGCGCCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCCCCG CGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCG CCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCC CGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG GCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	293	0.0034	288	c.44 others(299): Show c.4459_*4460insGGGGCGCACAGTCGGGGCCGCAGGGACCCCGGGG AAGGCCGGGCGCGGGGGGCGCACAGTCGGGGCCGCAGGGGTCCTGGGGGA GGCCGGGCGCGGGGGGCGCACAGTCGGGGCCGCAGGGGTCCGGGGGGAGG CCGGGCGCGGCGGGCGCACAGTCGGGGCCGCAGGGACCCCGGGGAAGGCC GGGCGCGGGGGGCGCACAGTCGGGGCCGCAGGGGTCCGGGGGGAGGCCGG GCGCGGCGGGCGCACAGTCGGGGCCGCAGGGACCCCGGGGAAGGCCGGGC GCGG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding					4142		chr11	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(281): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01943.hp1 NA18747.hp2 others(2): Show HG00544.hp1 HG01943.hp1 NA18747.hp2 NA18953.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0103	5	168	0.0298	288	c.-42 others(299): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4177		chr16	TogoVar
DEPDC1B_chr5_60591912_60705166	60668061	T T	TTATATAT others(281): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAA TGGATATTTTATATATATATATAAAATGGATATTTTATATATATATATAA AATGGATATTTTATATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	249	0.0040	288	c.314 others(307): Show c.314+18900_314+18901insTAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATA TATATATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTA TATATATATATA		DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10						chr5	TogoVar
DIDO1_chr20_62872743_62931505	62875236	C C	CCCACCCC others(281): Show CCCACCCCCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCC CACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCA CCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACC CCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCC CACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCA CCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0221 a0003c0003t0001g0221	1	313	0.0032	288	c.39 others(299): Show c.3996_*3997insCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGT GGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGGGG GTGG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2506		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(281): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCCACCCCCACCCCCACCCGCACCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0222 a0003c0003t0001g0222	1	264	0.0038	288	c.39 others(299): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(281): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCC CACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0023 a0003c0003t0001g0023	1	264	0.0038	288	c.39 others(299): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(281): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCC CACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0225 a0003c0003t0001g0225	1	264	0.0038	288	c.39 others(299): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(281): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCGCACCGGCACCCCCCACCCGCACCGGCACCCCCACCCCCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACC CCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCC CACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0250 a0003c0003t0001g0250	1	264	0.0038	288	c.39 others(299): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGGTGCCGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(281): Show CCACCCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCC CACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACC CCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCC CACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	264	0.0038	288	c.39 others(299): Show c.3990_*3991insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG GGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875272	C C	CCACCCCC others(281): Show CCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCACCCGC ACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCGCACCGGCAC CCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCCC ACCCGCACCCCCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCAC CCCCACCCTCACCCCCACCCTCACCCCCACCCGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0246 a0003c0006t0001g0246	1	301	0.0033	288	c.39 others(299): Show c.3960_*3961insCGGGTGCGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGG TGGGGGTGCCGGTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2470		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875296	G G	GCACCGGC others(281): Show GCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCCCACCCGCACCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CGCACCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCTC ACCCCCACCCCCACCCTCACCCCCACCCCCACCCGCACCCGCACCCGCAC CCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0261 a0003c0003t0001g0261	1	228	0.0044	288	c.39 others(299): Show c.3936_*3937insAGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGG TGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGAGGGTGGGGGTG GGGGTGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGG GTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCC GGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2446		chr20	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GAAGAAGG others(281): Show GAAGAAGGGAGGGGAGGGGAGGGGAGGGAAGAAGAAGGGAGGGGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGAGGAGAAGGGAGGGAAGGGGGAGGGGA GGGGAGGGAGAGGGGAAGGGAGGAGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGAGGGAGGGGAGGGAGGGAGGAAGGGAGGGGAAGGGAGGGGAGAGG AGGAGAGAAGGAGAGGGGGCGGGGCGGGAGAGGGGCGGGGCGGAGAGGGG CGGGGCGGGGCGGGGAGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	34	0.0294	288	c.158 others(305): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCTCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCCGCCCCGCCCCCTCT CCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCCCTCCCTCCC CTCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCTCCCTTCCCC TCTCCCTCCCCTCCCCTCCCCCTTCCCTCCCTTCTCCTCCCTCCCCTCCC CTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTTCCCTCCCCTCCCCTCCC CTCCCTTCTT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
DISC1_chr1_231621790_232046272	231796348	C C	CGAAATGT others(281): Show CGAAATGTAAAAAGGAGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	37	0.0270	288	c.168 others(307): Show c.1689+1067_1689+1068insGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA ATGTAAAAAGGA		DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	807228	A A	AGTTCTCT others(281): Show AGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTT TCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTT CTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTT CTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCT CTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCA TTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG02976.hp2 others(1): Show HG02258.hp2 HG02818.hp2 HG02976.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0006 others(1): Show a0001c0002 a0001c0003 a0002c0006 a0004c0008	a0001c0002t0001 a0001c0003t0006 a0002c0006t0021 others(1): Show a0001c0002t0001 a0001c0003t0006 a0002c0006t0021 a0004c0008t0016	a0001c0002t0001g0015 a0001c0003t0006g0033 a0002c0006t0021g0014 others(1): Show a0001c0002t0001g0015 a0001c0003t0006g0033 a0002c0006t0021g0014 a0004c0008t0016g0028	4	38	0.1053	288	c.18+ others(305): Show c.18+69467_18+69754dupCGTTCTCTCTCCTCTTTTTCTTCTCATT CATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTC TTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATA CGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTT TCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTT CTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTT CTCATTCATA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH11_chr7_21538039_21906839	21640508	C C	CTTTTTTT others(281): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCAGCATTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp1 HG02145.hp2 others(10): Show HG00738.hp2 HG02055.hp1 HG02145.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp1	a0057 a0093 a0106 others(10): Show a0057 a0093 a0106 a0128 a0129 a0134 a0135 a0140 a0144 a0149 a0157 a0163 a0179	a0057c0171 a0093c0118 a0106c0220 others(10): Show a0057c0171 a0093c0118 a0106c0220 a0128c0248 a0129c0183 a0134c0121 a0135c0221 a0140c0185 a0144c0034 a0149c0260 a0157c0125 a0163c0145 a0179c0175	a0057c0171t0001 a0093c0118t0001 a0106c0220t0001 others(10): Show a0057c0171t0001 a0093c0118t0001 a0106c0220t0001 a0128c0248t0001 a0129c0183t0004 a0134c0121t0001 a0135c0221t0001 a0140c0185t0001 a0144c0034t0001 a0149c0260t0015 a0157c0125t0004 a0163c0145t0001 a0179c0175t0001	a0057c0171t0001g0293 a0093c0118t0001g0045 a0106c0220t0001g0200 others(10): Show a0057c0171t0001g0293 a0093c0118t0001g0045 a0106c0220t0001g0200 a0128c0248t0001g0231 a0129c0183t0004g0211 a0134c0121t0001g0085 a0135c0221t0001g0233 a0140c0185t0001g0224 a0144c0034t0001g0004 a0149c0260t0015g0226 a0157c0125t0004g0236 a0163c0145t0001g0240 a0179c0175t0001g0001	13	293	0.0444	288	c.494 others(307): Show c.4944+1448_4944+1449insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCA GCATTCTTTTTT		DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	28/81					INFO_REALIGN_3_PRIME	chr7	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(281): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATTATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATTTAAAAGTATATATATATATATAATATATATATATATAATATA TATATATAATATATATATATATAATATATATATATAATATATATATATAT AATATATATATATAATATATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	51	0.0196	288	c.554 others(305): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATTATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATTTAAAAGTATATATATATATATAAT ATATATATATATAATATATATATATAATATATATATATATAATATATATA TATAATATATATATATATAATATATATATATAATATATATATATATAATA TATATATATA		DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38					INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCCTTCC others(281): Show CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCTCTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	184	0.0054	288	c.105 others(305): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCTCTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89638807	G G	GCACACAC others(281): Show GCACACACACACCCCACCCCTGCACACACACACATACCCCACCCCTGCAC ACACACACACACCCCACCCCTGCACACACACACACCCCACCCCTGCACAC ACACACACACCGCACCCCTGCACACACACACATACCCCACCCCTGCACAC ACACACACCGCACCCCTGCACACACACACCCCACCCCTGCACACACACAC ACACCGCACCCCTGCACGCACACACCCCCCACCCCTGCACGCACACACCC ACCGCACCCCTGCACACACACACATACCCCACCCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03471.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099	3	248	0.0121	288	c.58 others(297): Show c.585_*586insCACACACACACCCCACCCCTGCACACACACACATAC CCCACCCCTGCACACACACACACACCCCACCCCTGCACACACACACACCC CACCCCTGCACACACACACACACCGCACCCCTGCACACACACACATACCC CACCCCTGCACACACACACACCGCACCCCTGCACACACACACCCCACCCC TGCACACACACACACACCGCACCCCTGCACGCACACACCCCCCACCCCTG CACGCACACACCCACCGCACCCCTGCACACACACACATACCCCACCCCTG CA		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding					375		chr16	TogoVar
DRD4_chr11_632269_645706	640090	G G	GCCGCGCC others(281): Show GCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGC CGCGCCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCCCCG CGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCG CCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCC CGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG GCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	354	0.0028	288	c.849 others(295): Show c.849_850insGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCC CGCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCC CCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCC GCGCCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGC GCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGC CCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCC	p.Pro others(301): Show p.Pro283_Ser284insGlyLeuProArgGlyProCysGlyProAspCy sAlaProAlaAlaProGlyLeuProProAspProCysGlyProAspCysA laProProAlaProGlyLeuProArgGlyProCysGlyProAspCysAla ProAlaAlaProGlyLeuProProAspProCysGlyProAspCysAlaPr oProAlaProGlyLeuProGlnAspProCysGlyProAspCysAlaProP roAlaProGlyLeuProArgGlyProCysGlyProAspCysAlaProPro AlaPro	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	886/1399	850/1260	284/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENTPD2_chr9_137043107_137059061	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp1 others(61): Show HG00099.hp2 HG00408.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp2 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0029 others(22): Show a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0129 a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0008t0001g0124 a0001c0008t0001g0139	64	354	0.1808	288	c.102 others(303): Show c.1029+47_1029+48insTAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGG CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGA		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCGCCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	291	0.0034	288	c.102 others(303): Show c.1029+47_1029+48insTAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGG CGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGG CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGA		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCTCGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02040.hp2 HG02083.hp2 others(5): Show HG00621.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 NA18940.hp1 NA18947.hp1 NA18981.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0007 a0001c0005 a0003c0007	a0001c0005t0001 a0003c0007t0001 a0001c0005t0001 a0003c0007t0001	a0001c0005t0001g0027 a0001c0005t0001g0142 a0001c0005t0001g0143 others(3): Show a0001c0005t0001g0027 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0159 a0003c0007t0001g0123 a0003c0007t0001g0138	8	298	0.0268	288	c.102 others(303): Show c.1029+47_1029+48insTAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGAGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGG CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGA		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCGTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	291	0.0034	288	c.102 others(303): Show c.1029+47_1029+48insTAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGG CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACACGCGGGTGGCTG GGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGA		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050266	C C	CCGCCTGC others(281): Show CCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTAC CCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTC CCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGA CAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCC ACCCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	398	0.0025	288	c.102 others(303): Show c.1029+17_1029+18insTGTGGCTGGGAACTTTGTCGTGGGTAGGGA TAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTG GGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAG GGCAGGCG		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8						chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403416	C C	CGGGGGAA others(281): Show CGGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG GGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGG GGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAG AAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0149 a0005c0013t0002g0149	1	357	0.0028	288	c.120 others(305): Show c.1209-530_1209-529insCCGGCAAACCCCACCCCTTGCTCCCAGG AACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAAC CCTGTCCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCC TGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGT CCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCC CTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCT TTCTTCCCCC		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(281): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0056 a0001c0001t0001g0057	2	377	0.0053	288	c.83+ others(301): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGCATTTAA AGTTTT		ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHA3_chr3_89102621_89487134	89435089	T T	TAAAACGC others(281): Show TAAAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG CAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG02559.hp2 HG02922.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0003 a0004c0007t0005g0004 a0004c0007t0005g0003 a0004c0007t0005g0004	2	192	0.0104	288	c.234 others(307): Show c.2346+3734_2346+3735insCGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAA		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EXD3_chr9_137301896_137428162	137322959	C C	CTCTGCCG others(281): Show CTCTGCCGACACCCCACCCCGGACCCACGAGGGGTGCTCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCC GGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGG TGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp2 HG00099.hp1 HG01975.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0016 a0001c0001 a0018c0016	a0001c0001t0001 a0018c0016t0001 a0001c0001t0001 a0018c0016t0001	a0001c0001t0001g0059 a0018c0016t0001g0019 a0001c0001t0001g0059 a0018c0016t0001g0019	2	52	0.0385	288	c.218 others(305): Show c.2184+765_2184+766insTCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTG GGTCCGGGGTGGGGTGTCGGCAGAGCACCCCTCGTGGGTCCGGGGTGGGG TGTCGGCAGA		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322959	C C	CTCTGCCG others(281): Show CTCTGCCGACACCCCACCCCGGACCCACGAGGGGTGCTCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGCTCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCC GGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGG TGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	51	0.0196	288	c.218 others(305): Show c.2184+765_2184+766insTCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GAGCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTG GGTCCGGGGTGGGGTGTCGGCAGAGCACCCCTCGTGGGTCCGGGGTGGGG TGTCGGCAGA		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(281): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG03225.hp2 HG02145.hp1 HG02630.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0164 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0164	3	144	0.0208	288	c.173 others(307): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGT CAAGAGATTCTT		F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11						chr1	TogoVar
FCER2_chr19_7683776_7707131	7691972	T T	TCACATTC others(281): Show TCACATTCACGTCCATCAACACATCAACCACCAACACCGTCGCCACGAAC ACATTCACGTCCATCAACACATCAACTACCAACACCATCACCACGAACAC ATTCATGTCCAACAACACATCAACTACCAACACCATTGTCATGAACACAT TCACGTCCATCAACACATCAACCACCAACACCATCAGCACGAATACATTC ACGTCCAACAACACATCAACTACCAACACCATCACCACGAGCACATTCAT GTCCAACAACAAATCAACTACCAACACCACTGTCATGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	173	0.0058	288	c.470 others(305): Show c.470-1416_470-1415insTTCATGACAGTGGTGTTGGTAGTTGATT TGTTGTTGGACATGAATGTGCTCGTGGTGATGGTGTTGGTAGTTGATGTG TTGTTGGACGTGAATGTATTCGTGCTGATGGTGTTGGTGGTTGATGTGTT GATGGACGTGAATGTGTTCATGACAATGGTGTTGGTAGTTGATGTGTTGT TGGACATGAATGTGTTCGTGGTGATGGTGTTGGTAGTTGATGTGTTGATG GACGTGAATGTGTTCGTGGCGACGGTGTTGGTGGTTGATGTGTTGATGGA CGTGAATGTG		FCER2	ENSG00000104921.15	transcript	ENST00000597921.6	protein_coding	8/10						chr19	TogoVar
FHAD1_chr1_15242223_15403328	15314635	G G	GTGGGTGT others(281): Show GTGGGTGTGTGGGAGGGTGTGTGAGGGTGTGGATGTGTGTGGGTATGTGG GGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGTGAGAGGGTGTG TGTGGGGGTGTATGGGTGTGTAAGCATAGGGGGTGTATGGGTGTGAGTAT GGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATGTGTGGGTGAGG GTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTGGGTGTGTGTGGATA TGGGTAGGTGTGTGTGTGAGTGTGGTGTGTGGGGGTGTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02572.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG02572.hp1 HG02630.hp2 HG03195.hp2	a0016 a0020 a0025 others(1): Show a0016 a0020 a0025 a0044	a0016c0110 a0020c0042 a0025c0111 others(1): Show a0016c0110 a0020c0042 a0025c0111 a0044c0062	a0016c0110t0008 a0020c0042t0003 a0025c0111t0030 others(1): Show a0016c0110t0008 a0020c0042t0003 a0025c0111t0030 a0044c0062t0011	a0016c0110t0008g0254 a0020c0042t0003g0012 a0020c0042t0003g0013 others(2): Show a0016c0110t0008g0254 a0020c0042t0003g0012 a0020c0042t0003g0013 a0025c0111t0030g0179 a0044c0062t0011g0276	5	169	0.0296	288	c.117 others(307): Show c.1170+1460_1170+1461insAGGGTGTGTGAGGGTGTGGATGTGTG TGGGTATGTGGGGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGT GAGAGGGTGTGTGTGGGGGTGTATGGGTGTGTAAGCATAGGGGGTGTATG GGTGTGAGTATGGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATG TGTGGGTGAGGGTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTGGGT GTGTGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTGTGGGGGTGTA TGGGTGTGTGGG		FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	8/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(281): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG03490.hp1 others(1): Show HG00735.hp2 HG02486.hp1 HG03490.hp1 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0269 a0001c0003t0001g0278 others(1): Show a0001c0003t0001g0048 a0001c0003t0001g0269 a0001c0003t0001g0278 a0001c0003t0001g0281	4	263	0.0152	288	c.189 others(307): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTAGATTT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(281): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGC CCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACCCC CTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCC TCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	114	0.0088	288	c.33 others(299): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCC TACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTC CCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCC CCGCCCACCCACTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCC GCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
GALNS_chr16_88808734_88861947	88831619	C C	CGAGCACG others(281): Show CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGACAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGC GGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGACAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	396	0.0025	288	c.100 others(305): Show c.1002+378_1002+379insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTGTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCT GTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCA CCCCGTGCTC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar

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