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
ARHGEF10_chr8_1818926_1963641	1920112	G G	GTGGGTGA others(172): Show GTGGGTGATGGAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGG AGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCCA TGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATGG AGCTGTTCTGTGGATGATGGAGCTGTTCTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0093 a0006c0093	a0006c0093t0002 a0006c0093t0002	a0006c0093t0002g0197 a0006c0093t0002g0197	1	363	0.0028	179	c.214 others(198): Show c.2144-2830_2144-2829insGGTGATGAGCTGTTCTGTCAGTGATG GAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGGGCTGTTCC ATGGGTGATGGAGCTGTTCCATGGGTGATGGAGCTGTTCTGTGGGTGATG GAGCTGTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCT GTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCCCCTCC others(172): Show CCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCGCTCCCCCC TCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0238 a0003c0003t0001g0238	1	264	0.0038	179	c.102 others(196): Show c.1024+306_1024+307insCCCTCCCTCCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCGCTCCCGCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCC CTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT C	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(172): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTC CCGCTCCCCCTCCCCCCTCCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCC CCTCTCCCCCCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	264	0.0038	179	c.102 others(196): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCCTCCCCCCTCCCT CCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCCCCCCTCTCCCCCTCCCCC T	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(172): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTC CCGCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	264	0.0038	179	c.102 others(196): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCCTCCCCCTCCCTC CCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC T	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARSF_chrX_3036471_3117727	3073533	A A	ATATAGTA others(172): Show ATATAGTATATAGTATATAGTATATAGTATATAGTATATAGTATATAGTA TATAGTATATAGTATATACTATATACTATATACTATATACTATATATTAT AAATATATACATATATTTATATGTTATATATAATATATACATATATTTAT ATGTTATATATAATATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02257.hp2 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0028 a0001c0007t0003g0183 a0001c0007t0003g0028 a0001c0007t0003g0183	2	193	0.0104	179	c.161 others(196): Show c.161+1358_161+1359insTATAGTATATAGTATATAGTATATAGTA TATAGTATATAGTATATAGTATATAGTATATAGTATATACTATATACTAT ATACTATATACTATATATTATAAATATATACATATATTTATATGTTATAT ATAATATATACATATATTTATATGTTATATATAATATATAATATATAATA T	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	3/10			chrX	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(172): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGGCGAGGGAGGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	432	0.0023	179	c.124 others(196): Show c.124+2040_124+2041insTCCCTCCCCCCTCCCTCGCCCCTCCCCC TCCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCT CCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCC CCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCT C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(172): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	432	0.0023	179	c.124 others(196): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCCTCCCCC TCCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCT CCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCC CCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCT C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(172): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGG GGAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	432	0.0023	179	c.124 others(196): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCCTCTCCCTTCCT CCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCC CCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCT C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(172): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGG GGAGGGGGAGGGGCGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	432	0.0023	179	c.124 others(196): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCGCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCCTCTCCCTTCCT CCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCC CCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCT C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(172): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGGAGAGGGATGGAGGGGGAGGGGC AGGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAG AGGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGG GGAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp1 HG01169.hp1 others(1): Show HG00621.hp2 HG01099.hp1 HG01169.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0256	4	432	0.0093	179	c.124 others(196): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTC CTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCC CTGCCCCTCCCCCTCCATCCCTCTCCCCCCCTCCCCTCTCCCCCTCCCCT C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(172): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGGAGAGGGATGGAGGGGGAGGGGC AGGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAG AGGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGG GGAGGGGGAGGGGCGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	432	0.0023	179	c.124 others(196): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCGCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTC CTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCC CTGCCCCTCCCCCTCCATCCCTCTCCCCCCCTCCCCTCTCCCCCTCCCCT C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112083	A A	AGGGGGAG others(172): Show AGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCAGGGGAGG GGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGAGAAGGAA GGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGGGAGGGGG AGGGGAGAGGGAGGGGGAGGGAGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	432	0.0023	179	c.124 others(196): Show c.124+2033_124+2034insCTCCCCTCTCCCTCCCCCTCCCTCTCCC CTCCCCCTCCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTC CCTTCCTTCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTC CCCCTCCCCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCC C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCCTTCC others(172): Show TCCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCC CCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTC CCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	378	0.0027	179	c.960 others(196): Show c.960+3400_960+3401insCTTCCCTCCCCTGCCCTCCCCTCACTTC CTCCCTCCCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCC CTCACTTCCTCCCTCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC C	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(172): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0225 a0001c0001t0010g0225	1	378	0.0027	179	c.960 others(196): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTTCCC T	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11A_chr13_112685038_112892168	112804052	T T	TCCTCCTT others(172): Show TCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCC TCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTCCTTC ACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCC TTCACCTCCCTCCCCCCATCCCCTCTCTGC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0008 a0002c0048t0008	a0002c0048t0008g0165 a0002c0048t0008g0165	1	254	0.0039	179	c.163 others(194): Show c.163-898_163-897insTCTTCCCTTCCTTCCCTCATTCCCCTCATT CCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTC CTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCC CTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112873098	T T	TGTTGTGA others(172): Show TGTTGTGAGGTGTGGCTTTGTCTTCCTGAGTGATGTGAGGTATGGCTTTG TCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAAC GGTGTGAGGTGTGGCTTTGTCTTCCTGAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02622.hp2 others(2): Show HG01109.hp1 HG02572.hp1 HG02622.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0002t0013 a0001c0017t0076 a0001c0002t0001 a0001c0002t0013 a0001c0017t0076	a0001c0002t0001g0032 a0001c0002t0013g0111 a0001c0002t0013g0117 others(2): Show a0001c0002t0001g0032 a0001c0002t0013g0111 a0001c0002t0013g0117 a0001c0002t0013g0211 a0001c0017t0076g0154	5	254	0.0197	179	c.305 others(196): Show c.3058-474_3058-473insTTGTGAGGTGTGGCTTTGTCTTCCTGAG TGATGTGAGGTATGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTTTG TCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGTGAGGT GTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAAC G	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112873307	C C	CGGTGTGA others(172): Show CGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTG TCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAACAGTGTGAGG TGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAG TGGTGTGAGGTGTGGCTTTGTCTCCTTAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG03486.hp2 HG02258.hp2 HG02965.hp1 HG03486.hp2	a0004 a0004	a0004c0015 a0004c0027 a0004c0015 a0004c0027	a0004c0015t0002 a0004c0027t0074 a0004c0015t0002 a0004c0027t0074	a0004c0015t0002g0052 a0004c0015t0002g0087 a0004c0027t0074g0155 a0004c0015t0002g0052 a0004c0015t0002g0087 a0004c0027t0074g0155	3	254	0.0118	179	c.305 others(196): Show c.3058-266_3058-265insGGTGTGAGGTGTGGCTTTGTCTTCCTGA ACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAG GTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAA T	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29			chr13	TogoVar
AXIN1_chr16_282440_357723	285931	C C	CCCCAACC others(172): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCC AACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCAA CCCCAACCCCAACCCCAACCCCAACCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG01261.hp2 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0026 a0001c0014t0020 a0001c0004t0026 a0001c0014t0020	a0001c0004t0026g0348 a0001c0014t0020g0070 a0001c0004t0026g0348 a0001c0014t0020g0070	2	378	0.0053	179	c.21 others(190): Show c.2190_*2191insTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGG GTTGGGGTTGGGGTTGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCG GGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGGGGTTGGGG TTGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1508		chr16	TogoVar
AXIN1_chr16_282440_357723	285937	C C	CCCCAACC others(172): Show CCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCGCGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG02895.hp1 others(1): Show HG02572.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 others(1): Show a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0228	4	378	0.0106	179	c.21 others(190): Show c.2184_*2185insAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGG AGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTG GGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCG CGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1502		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83039554	C C	CGCCGCCC others(172): Show CGCCGCCCGCCCCTCTTCTAGACACACTGCTGGGCGCCCGCCGCCCGCCC CTCTTCTAGACACACTGCTGGGCGCCCGCCGCCCGCCCCTGTTCTAGACA CACTGCTGGGCGCCCGCTGCCCGCCCCTGTTCTAGACACACTGCTGGGCG CCTGCCGCCCGAACCTGTTCTAGAGCGCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG06807.hp1 HG02886.hp1 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0010 a0001c0011t0001 a0001c0011t0010	a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0001g0144 a0001c0011t0010g0146	2	266	0.0075	179	c.233 others(196): Show c.233-4456_233-4455insAGGCGCTCTAGAACAGGTTCGGGCGGCA GGCGCCCAGCAGTGTGTCTAGAACAGGGGCGGGCAGCGGGCGCCCAGCAG TGTGTCTAGAACAGGGGCGGGCGGCGGGCGCCCAGCAGTGTGTCTAGAAG AGGGGCGGGCGGCGGGCGCCCAGCAGTGTGTCTAGAAGAGGGGCGGGCGG C	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGGAGGA others(172): Show GGGGAGGAGGGGAGGGGGAGGGGGGAGGGAGGGGAGAGGGGGGAGGGGGA GGGGAGAGGGGGGATGGGGATGGGGGAGAGGGGGGGAGGGGGAGAGGGGG AGGGGGAGGGGAGGGGAGGGGGAGGAGGGGATGGATGGGGAGGAGGGGGA TGGACTGGGGAGGAGGTGGTTGGACTGGGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0297 a0001c0003t0020g0297	1	298	0.0034	179	c.51+ others(192): Show c.51+438_51+439insTCCCAGTCCAACCACCTCCTCCCCAGTCCATC CCCCTCCTCCCCATCCATCCCCTCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCTCCCCCTCCCCCCCTCTCCCCCATCCCCATCCCCCCTCTCCCCTC CCCCTCCCCCCTCTCCCCTCCCTCCCCCCTCCCCCTCCCCTCCTCCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BBS5_chr2_169474494_169511655	169496786	G G	GTGAACCC others(172): Show GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAATACAAAAAATTGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCTAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00621.hp1 others(19): Show HG00140.hp1 HG00558.hp1 HG00621.hp1 HG01175.hp1 HG02080.hp1 HG02135.hp2 HG03017.hp1 HG03491.hp2 NA18747.hp1 NA18952.hp2 NA18981.hp2 NA18990.hp1 NA18999.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19062.hp1 NA19066.hp2 NA19074.hp2 NA19082.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0022 a0001c0001t0028	a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0005g0013 others(17): Show a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0005g0013 a0001c0001t0005g0030 a0001c0001t0005g0050 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0072 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0013g0013 a0001c0001t0013g0071 a0001c0001t0013g0074 a0001c0001t0022g0030 a0001c0001t0022g0075 a0001c0001t0028g0073	22	398	0.0553	179	c.619 others(194): Show c.619-835_619-834insCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAATACAAAAAATTGGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCHE_chr3_165767904_165842423	165797218	T T	TTCCCTCC others(172): Show TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCCCCCTCC CTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCC CCTCCCTTCCTTCCTTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	304	0.0033	179	c.151 others(200): Show c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGA AGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGA AGGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAAGGAAGGAAGG AGGGA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(172): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGG AGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	276	0.0036	179	c.490 others(198): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGA GGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGCAGG GCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(172): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGGAGGG GAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	276	0.0036	179	c.490 others(198): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAGGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG AGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGG GCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD1_chr22_49768283_49832873	49775817	C C	CCCCCCCC others(172): Show CCCCCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCAC GCCCCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTC CGACCAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCC CGCCCCGCAGCTGTGTGAGCCTCCTCAGAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0152 a0001c0001t0011g0152	1	258	0.0039	179	c.323 others(194): Show c.3232-73_3232-72insATCTGAGGAGGCTCACACAGCTGCGGGGCG GGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGTCG GAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGGGC GTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGGGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BSG_chr19_567596_588493	570679	G G	GGGTGGAA others(172): Show GGGTGGAAAGGGCGGAGGGGTGGGTGGGGAGGGGCGGAGGGGTGGGGGAG GGGCGGAGGGGTGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGAG GGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGT GGGGGGGCGGAGGGGTGGGTTGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	306	0.0033	179	c.-19 others(190): Show c.-1956_-1955insGGTGGAAAGGGCGGAGGGGTGGGTGGGGAGGGGC GGAGGGGTGGGGGAGGGGCGGAGGGGTGGGGAGGGGGCGGAGGGGTGGGT GGGGGAGGGGTGGAGGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGG GGCGGAGGGGTGGGTGGGGGGGCGGAGGGGTGGGTTGGGAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1916		chr19	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(172): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	330	0.0030	179	c.431 others(196): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC C	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C2orf16_chr2_27532386_27587722	27539826	C C	CGCCCCTC others(172): Show CGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0007 a0005c0005t0002g0007	1	326	0.0031	179	c.144 others(196): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGA C	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1038705	T T	TGGGGGGG others(172): Show TGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0064 a0001c0001t0006g0030 a0001c0001t0006g0064	2	326	0.0061	179	c.130 others(198): Show c.130-28563_130-28562insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCA CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCC CCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTC others(172): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCCTCTCTC TCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0085 a0002c0085	a0002c0085t0005 a0002c0085t0005	a0002c0085t0005g0085 a0002c0085t0005g0085	1	218	0.0046	179	c.573 others(198): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(172): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTC TCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0037 a0001c0072t0037	a0001c0072t0037g0213 a0001c0072t0037g0213	1	218	0.0046	179	c.573 others(198): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAA GAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(194): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0011 others(12): Show a0001c0001 a0001c0002 a0001c0011 a0001c0015 a0001c0019 a0001c0020 a0002c0003 a0003c0004 a0003c0009 a0004c0005 a0005c0006 a0007c0022 a0010c0017 a0011c0014 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0058 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0050 a0001c0011t0031 a0001c0015t0003 a0001c0019t0044 a0001c0020t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0017 a0002c0003t0028 a0003c0004t0021 a0003c0009t0029 a0004c0005t0040 a0005c0006t0011 a0007c0022t0003 a0010c0017t0016 a0011c0014t0002 a0012c0018t0004	a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0075 others(182): Show a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0225 a0001c0001t0001g0261 a0001c0001t0001g0359 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0138 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0216 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0288 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0063 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0181 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0256 a0001c0001t0003g0268 a0001c0001t0003g0290 a0001c0001t0003g0323 a0001c0001t0003g0347 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0004g0089 a0001c0001t0004g0137 a0001c0001t0004g0248 a0001c0001t0004g0272 a0001c0001t0004g0289 a0001c0001t0004g0295 a0001c0001t0004g0334 a0001c0001t0005g0054 a0001c0001t0005g0067 a0001c0001t0005g0119 a0001c0001t0005g0129 a0001c0001t0005g0161 a0001c0001t0005g0172 a0001c0001t0005g0266 a0001c0001t0005g0287 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0345 a0001c0001t0006g0043 a0001c0001t0006g0183 a0001c0001t0006g0206 a0001c0001t0006g0219 a0001c0001t0006g0227 a0001c0001t0006g0237 a0001c0001t0006g0240 a0001c0001t0006g0280 a0001c0001t0006g0338 a0001c0001t0006g0343 a0001c0001t0007g0008 a0001c0001t0007g0097 a0001c0001t0007g0188 a0001c0001t0007g0201 a0001c0001t0007g0246 a0001c0001t0007g0277 a0001c0001t0007g0283 a0001c0001t0007g0330 a0001c0001t0008g0031 a0001c0001t0008g0130 a0001c0001t0008g0205 a0001c0001t0009g0032 a0001c0001t0010g0085 a0001c0001t0010g0264 a0001c0001t0010g0305 a0001c0001t0011g0148 a0001c0001t0011g0176 a0001c0001t0012g0229 a0001c0001t0016g0243 a0001c0001t0016g0255 a0001c0001t0016g0307 a0001c0001t0017g0101 a0001c0001t0017g0232 a0001c0001t0018g0044 a0001c0001t0018g0056 a0001c0001t0018g0120 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0020g0166 a0001c0001t0024g0004 a0001c0001t0025g0111 a0001c0001t0025g0247 a0001c0001t0028g0170 a0001c0001t0029g0362 a0001c0001t0030g0071 a0001c0001t0033g0226 a0001c0001t0034g0321 a0001c0001t0035g0304 a0001c0001t0037g0110 a0001c0001t0041g0320 a0001c0001t0043g0098 a0001c0001t0047g0139 a0001c0001t0049g0114 a0001c0001t0051g0364 a0001c0001t0053g0326 a0001c0001t0058g0049 a0001c0002t0002g0210 a0001c0002t0003g0213 a0001c0002t0006g0212 a0001c0002t0050g0361 a0001c0011t0031g0231 a0001c0015t0003g0315 a0001c0019t0044g0228 a0001c0020t0002g0285 a0002c0003t0006g0042 a0002c0003t0007g0297 a0002c0003t0017g0199 a0002c0003t0028g0335 a0003c0004t0021g0009 a0003c0004t0021g0235 a0003c0009t0029g0360 a0004c0005t0040g0068 a0005c0006t0011g0355 a0005c0006t0011g0357 a0007c0022t0003g0177 a0010c0017t0016g0121 a0011c0014t0002g0204 a0012c0018t0004g0107	197	382	0.5157	179	c.297 others(196): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGG C	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCTCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0079 a0001c0001t0032g0079	1	382	0.0026	179	c.297 others(196): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCTCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGG C	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0045 a0001c0001t0005 a0001c0001t0045	a0001c0001t0005g0196 a0001c0001t0045g0351 a0001c0001t0005g0196 a0001c0001t0045g0351	2	382	0.0052	179	c.297 others(196): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGG C	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCTCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	382	0.0026	179	c.297 others(196): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGG C	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(172): Show CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0296 a0001c0001t0011g0296	1	382	0.0026	179	c.297 others(196): Show c.297+4324_297+4325insCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG C	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02027.hp2 NA18941.hp1 HG01993.hp1 HG02027.hp2 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0124 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0124	3	410	0.0073	179	c.-22 others(190): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	410	0.0024	179	c.-22 others(190): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp2 others(14): Show HG00323.hp2 HG00621.hp2 HG00673.hp2 HG01257.hp2 HG01258.hp1 HG02071.hp1 HG02129.hp1 HG02300.hp1 HG04228.hp2 NA18943.hp1 NA18978.hp2 NA18983.hp1 NA18993.hp2 NA18998.hp2 NA19077.hp1 NA20129.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0029 others(5): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0029 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144	17	410	0.0415	179	c.-22 others(190): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(172): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02976.hp2 NA19085.hp2 HG02572.hp2 HG02976.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0150 a0001c0001t0003g0031 a0001c0001t0003g0156 a0001c0001t0001g0150 a0001c0001t0003g0031 a0001c0001t0003g0156	3	410	0.0073	179	c.-22 others(190): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CDH23_chr10_71391920_71820947	71688976	G G	GGTGGTGG others(172): Show GGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCG TGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAG TCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0086 a0086	a0086c0057 a0086c0057	a0086c0057t0027 a0086c0057t0027	a0086c0057t0027g0176 a0086c0057t0027g0176	1	196	0.0051	179	c.205 others(198): Show c.2059+1258_2059+1259insTGGTGGAGCCAGGGGTAGAGGAGTCA GGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGT GGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGG AGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA ACG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(172): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTAAATTTTTTGTTTAATTTAAATTAAACATTAAATTTTTT GTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	336	0.0030	179	c.231 others(196): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACAAAAAATTTAATGTTTAA TTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAAT TTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAAT T	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20320378	T T	TATATTAT others(172): Show TATATTATATATGTAATATAATATATGTAATATATATTATATATGTAATA TATATTATATATATTATATATGTAATATATATTATATATATTATATATAT TATATATGCAATATATATTATATATATTATATATGCAATATATATTATAT ATTACATATGTTATATATATTATATATTAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02486.hp2 HG03139.hp2 others(1): Show HG01361.hp2 HG02486.hp2 HG03139.hp2 HG03486.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0001c0039 a0023c0029 a0001c0001 a0001c0039 a0023c0029	a0001c0001t0003 a0001c0039t0003 a0023c0029t0003 a0001c0001t0003 a0001c0039t0003 a0023c0029t0003	a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0039t0003g0125 others(1): Show a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0039t0003g0125 a0023c0029t0003g0132	4	236	0.0170	179	c.342 others(200): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATTATATATATTATATATATTATATATGCAATATATATTATATATATTA TATATGCAATATATATTATATATTACATATGTTATATATATTATATATTA CATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357384	G G	GTGGTCAC others(172): Show GTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	236	0.0042	179	c.351 others(198): Show c.3514-2815_3514-2814insTGAGGGGAGGTGGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACA CTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357482	G G	GGTGGTCA others(172): Show GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTG TGAGTGAGGAAGTAGTCACACTGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	236	0.0042	179	c.351 others(198): Show c.3514-2719_3514-2718insGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGG AGGTGGTCATACTGTGAGTGAGGAAGTAGTCACACTGAGGGGAAGTGGTC ACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357652	C C	CTGAGGGG others(172): Show CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGAGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	236	0.0042	179	c.351 others(198): Show c.3514-2542_3514-2541insCACTGAGGGGAGGTGGTCACACTGAG GAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGG TCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP92_chr3_128904873_128999076	128955301	T T	TGCCCCGT others(172): Show TGCCCCGTCCACGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGACCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02970.hp1 others(3): Show HG02258.hp1 HG02622.hp2 HG02970.hp1 HG03516.hp1 NA18906.hp2 NA20129.hp1	a0003 a0012 a0003 a0012	a0003c0006 a0012c0028 a0003c0006 a0012c0028	a0003c0006t0002 a0012c0028t0002 a0003c0006t0002 a0012c0028t0002	a0003c0006t0002g0180 a0003c0006t0002g0181 a0003c0006t0002g0182 others(3): Show a0003c0006t0002g0180 a0003c0006t0002g0181 a0003c0006t0002g0182 a0003c0006t0002g0183 a0003c0006t0002g0184 a0012c0028t0002g0185	6	342	0.0175	179	c.135 others(198): Show c.1354-9327_1354-9326insGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGTCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGTGGACGG GGC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCGC others(172): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGCGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG01978.hp1 others(9): Show HG01255.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG02135.hp2 HG03688.hp1 HG03942.hp2 HG04228.hp2 NA18967.hp2 NA18978.hp2 NA18994.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0078 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0002t0001g0107	12	342	0.0351	179	c.135 others(198): Show c.1354-9359_1354-9358insCTGACCCCCCCACCTCCCTCGCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCGC others(172): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGCGAGGGAGGTGGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19003.hp2 HG01934.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0115 a0001c0001t0001g0125	2	342	0.0059	179	c.135 others(198): Show c.1354-9359_1354-9358insCTGACCCCCCCCACCTCCCTCGCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar

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