Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARHGDIG_chr16_275591_288010	285909	C C	CCCAACCC others(230): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	442	0.0023	237	c.30 others(248): Show c.3095_*3096insCCAACCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCT CCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACA	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2900		chr16	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(230): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAAGGGAGGGGAGATGGGAGGGGAGGGGAGGGTG AGGGGAGGGGAGGGGGAGGGGAGGAGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	216	0.0046	237	c.311 others(254): Show c.311-1311_311-1310insCTCCCCTCCCCTCTCCTCCCCTCCCCCT CCCCTCCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCTTCCCCCTC CCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTC CCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCC CTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCC TCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(230): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTG AGGGGAGGGGAGGGGGAGGGGAGGAGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01069.hp2 others(20): Show HG00140.hp1 HG00642.hp2 HG01069.hp2 HG01167.hp2 HG01934.hp1 HG01978.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG04184.hp1 NA18959.hp1 NA19003.hp1 NA19084.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(20): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0002g0082 a0001c0001t0008g0053	23	216	0.1065	237	c.311 others(254): Show c.311-1311_311-1310insCTCCCCTCCCCTCTCCTCCCCTCCCCCT CCCCTCCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTC CCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTC CCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCC CTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCC TCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(230): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGTG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19088.hp1 NA18977.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0008 a0001c0001t0001g0080	2	216	0.0093	237	c.311 others(254): Show c.311-1311_311-1310insCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTC CCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTC CCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCC CTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCC TCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(230): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0008 a0001c0001t0016	a0001c0001t0008g0075 a0001c0001t0016g0069 a0001c0001t0008g0075 a0001c0001t0016g0069	2	252	0.0079	237	c.251 others(256): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(230): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTATGGGACTACAGGCGCCCGCCACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0151 a0001c0001t0035g0151	1	252	0.0040	237	c.251 others(256): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCATACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
AXIN1_chr16_282440_357723	285909	C C	CCCAACCC others(230): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0062 a0001c0003t0011g0062	1	378	0.0027	237	c.22 others(248): Show c.2212_*2213insTGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGG TTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGT TGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1530		chr16	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(230): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	237	c.36 others(248): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCC GAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(230): Show GAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	184	0.0054	237	c.784 others(252): Show c.784-521_784-520insAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(230): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAG GGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGG AGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp1 HG03453.hp2 others(1): Show HG02886.hp2 HG03130.hp1 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 others(1): Show a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227	4	298	0.0134	237	c.51+ others(250): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTC CCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTC CCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(230): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAG GGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGG AGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01243.hp1 others(35): Show HG00673.hp2 HG00735.hp1 HG01243.hp1 HG01952.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02451.hp2 HG02698.hp2 HG03239.hp2 HG03492.hp1 HG03710.hp1 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18964.hp2 NA18971.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0016 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0016 a0002c0006t0001	a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0002t0001g0163 others(35): Show a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0228 a0001c0002t0016g0184 a0002c0006t0001g0166 a0002c0006t0001g0170 a0002c0006t0001g0186 a0002c0006t0001g0187 a0002c0006t0001g0189 a0002c0006t0001g0191 a0002c0006t0001g0222	38	298	0.1275	237	c.51+ others(250): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCTC CCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTC CCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(230): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGGGGGGAG GGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGG AGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	298	0.0034	237	c.51+ others(250): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCTTCCCCTCCCCCTCCC CCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCCTC CCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTC CCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(230): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGAGGGGGGAG GGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGG AGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	298	0.0034	237	c.51+ others(250): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCATCCCCATCCCCCCTC TCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTC CCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BANP_chr16_87946434_88082316	88048411	C C	CATTCTAA others(230): Show CATTCTAACAGTGTTCTCGGTATTGAATCGGCGCTCACCGCAGATTAAAG AAAGGACATCGATTCTAACAGTATTCTCGGTATCGAGTCGGCACTCACCA CGGATTAAAGAAAGGTGGATTCTAACAGTGTTCTTGGTATCGAATCGGCG CTCACCACAGATTAAAGAAAGGGCATCGATTCTAACAGTGTTCTCGGTAT TAAATCTGCACTCACCACAGATTAAAGAAAGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0344 a0001c0016t0005g0344	1	352	0.0028	237	c.131 others(258): Show c.1311+10445_1311+10446insAAAGAAAGGACATCGATTCTAACA GTATTCTCGGTATCGAGTCGGCACTCACCACGGATTAAAGAAAGGTGGAT TCTAACAGTGTTCTTGGTATCGAATCGGCGCTCACCACAGATTAAAGAAA GGGCATCGATTCTAACAGTGTTCTCGGTATTAAATCTGCACTCACCACAG ATTAAAGAAAGGAGGTGGATTCTAACAGTGTTCTCGGTATTGAATCGGCG CTCACCGCAGATT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(230): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATATATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0034 a0005c0005t0001g0034	1	216	0.0046	237	c.-2- others(254): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATATATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATAATAT ATATATATATAAATATATATATAATATATATATATAAATATATATATAAT ATATATATATAAAAATATATATATTATATATATATATAAATATATATATA ATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BRSK2_chr11_1384934_1467689	1431769	G G	GTCTGGTC others(230): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0028 a0002c0002t0015g0028	1	360	0.0028	237	c.92- others(252): Show c.92-4271_92-4270insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432243	G G	GGGTCTGG others(230): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG00741.hp2 others(5): Show HG00609.hp2 HG00639.hp1 HG00741.hp2 HG01884.hp2 HG02055.hp1 HG02074.hp2 HG02897.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0032 a0001c0001t0063 others(3): Show a0001c0001t0003 a0001c0001t0032 a0001c0001t0063 a0001c0001t0064 a0002c0002t0008 a0002c0002t0051	a0001c0001t0003g0239 a0001c0001t0032g0195 a0001c0001t0032g0209 others(5): Show a0001c0001t0003g0239 a0001c0001t0032g0195 a0001c0001t0032g0209 a0001c0001t0063g0253 a0001c0001t0064g0261 a0002c0002t0008g0157 a0002c0002t0008g0162 a0002c0002t0051g0077	8	360	0.0222	237	c.92- others(252): Show c.92-3748_92-3747insGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(230): Show CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	330	0.0030	237	c.431 others(254): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCT CCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
CABLES2_chr20_62383634_62412285	62397938	A A	ATGGCGGT others(230): Show ATGGCGGTGGTGGTGATGGTGGTGACGGTGGTGATGGTGATGATGGTGAT GGTTATGGCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGG CGATGGTGGTGGTGACGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGCGGTGGTGGTGATGATGGTGATGGTTATGGCGGTGGT GGTGGTGGTGACAGTGATGGTGATGGTGGTGGTGACGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0172 a0004c0007t0003g0172	1	400	0.0025	237	c.363 others(254): Show c.363-1347_363-1346insCCGTCACCACCACCATCACCATCACTGT CACCACCACCACCACCGCCATAACCATCACCATCATCACCACCACCGCCA TCACCACCACCACCACCACCACCACCACCACCGTCACCACCACCGTCACC ACCACCATCGCCATCACCACCATCACCATCACTGTCACCACCACCACCAC CGCCATAACCATCACCATCATCACCATCACCACCGTCACCACCATCACCA CCACCGCCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNB1_chr17_39168453_39202669	39183337	A A	AAAGAAGA others(230): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG AAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGA GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0188 a0001c0002t0011g0188	1	396	0.0025	237	c.105 others(254): Show c.1050+375_1050+376insCTTCTTCTTCTTCTTCTTCCTCTTCCTC TTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTT CCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCC TCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTT	CACNB1	ENSG00000067191.17	transcript	ENST00000394303.8	protein_coding	11/13			chr17	TogoVar
CACNB2_chr10_18135424_18548557	18208764	T T	TGGAAAGG others(230): Show TGGAAAGGCAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	200	0.0050	237	c.213 others(256): Show c.213+57804_213+57805insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAGGAA AGGCAACTCTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(230): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGG AGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0347 a0002c0003t0001g0347	1	364	0.0028	237	c.234 others(254): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(230): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAA GAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0275 a0002c0004t0002g0275	1	364	0.0028	237	c.234 others(254): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTC CTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(230): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGA GAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0306 a0002c0004t0004g0306	1	364	0.0028	237	c.234 others(254): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAAGAA others(230): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0176 a0001c0002t0003g0176	1	364	0.0028	237	c.234 others(254): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT TCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CENPJ_chr13_24877279_24927861	24881816	C C	CTATATAG others(230): Show CTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATAT AGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAGATGCATCTATATATCTATATAGATGCATCTAT ATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGAT ATATAATCTATATAGATATATAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0014 a0006c0008t0006g0014	1	440	0.0023	237	c.13 others(248): Show c.1360_*1361insTCTATATAGATGTATCTATATATCTATATAGATT ATATATCTATATAGATGCATCTATATATCTATATAGATGCATCTATATAT CTATATAGATGCATCTATATAGATATATAGATGCATCTATATATCTATAT AGATGCATCTATATATCTATATAGATGCATCTATATATCTATATAGATGC ATCTATATATCTATATAGATGCATCTATATATCTATATAGATGCATCTAT ATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		462		chr13	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(230): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAAATTAAACATTTA AATTAAATGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	336	0.0030	237	c.231 others(254): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACATTTAATTTAAATGTTTAATTTAAACAAAAAATTTAATGTTTAATTTA AATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACATTTAATTTAA ATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAA CAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTA ATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(230): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAAATTAAACATTTA AATTAAATGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp1 HG01243.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0294 a0001c0001t0003g0295	2	336	0.0060	237	c.231 others(254): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACATTTAATTTAAATGTTTAATTTAAACAAAAAATTTAATGTTTAATTTA AATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAA ATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAA CAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTA ATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(230): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAA CATTAAATTTTTTGTTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	336	0.0030	237	c.231 others(254): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAACAAA AAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTAATTTA AATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAA ATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAA CAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTA ATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP69_chr7_90240174_90316063	90288678	T T	TTTTTTTT others(230): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTT ATAAAGAAAAGAAGTTTAATTGGCTCATGGTTCCACAGGCTGCACAGGAA ACATGGCTATGGAGGCTTCAGGAAACTGTCAATCATGGCAGAAGGTAAAG GGGAAGCAGACACATCTTACATAGCTGGAGCAGGAGGAAGAGAGCGAAGG GGAGGTATACACTTTTAAACAACCAGATCTCATGAGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0031 a0002c0001t0001g0031	1	338	0.0030	237	c.177 others(254): Show c.1775+327_1775+328insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTAATTTATAAAGAAAAGAAGTTTAATTGGCTCATGG TTCCACAGGCTGCACAGGAAACATGGCTATGGAGGCTTCAGGAAACTGTC AATCATGGCAGAAGGTAAAGGGGAAGCAGACACATCTTACATAGCTGGAG CAGGAGGAAGAGAGCGAAGGGGAGGTATACACTTTTAAACAACCAGATCT CATGAGGAT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A2_chr13_110302284_110518209	110481891	G G	GTGCTGGA others(230): Show GTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTC TGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACA CACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTG CTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0112 a0003c0026t0001g0112	1	372	0.0027	237	c.275 others(254): Show c.2759-609_2759-608insTTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGA GACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COQ2_chr4_83258824_83289798	83276024	A A	ATTTTTAT others(230): Show ATTTTTATATAATATATATTATATATAATATATATTTTATATAATATATA AAATATATATTATATATAATATATATTTTATATATTATATAAAATATATA TTATATATAATATATTTTTTATATAATATATAAAATATATATTATATATA ATATATTTTTTATATAATATATAAAATATATATTATATATAATATATTTT TTATATAATATATAAAATATATATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	344	0.0029	237	c.421 others(254): Show c.421-2408_421-2407insATATATTATATATAATATATATTTTATA TATTATATAAAAAATATATTATATATAATATATATTTTATATATTATATA AAAAATATATTATATATAATATATATTTTATATATTATATAAAAAATATA TTATATATAATATATATTTTATATAATATATAAAATATATATTATATATA ATATATATTTTATATATTATATAAAATATATATTATATATAATATATATT ATATAAAAA	COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6			chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587849	C C	CCCGTGTT others(230): Show CCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	348	0.0029	237	c.927 others(252): Show c.927+748_927+749insCGTGTTACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAAC ACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588004	C C	CGTGTCAC others(230): Show CGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	348	0.0029	237	c.928 others(252): Show c.928-671_928-670insGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCCCCCCGTG TCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CREG1_chr1_167536013_167558762	167536857	T T	TAAAATTT others(230): Show TAAAATTTCATTGAGGGTCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAG GCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02080.hp1 HG02129.hp1 others(11): Show HG00438.hp2 HG02080.hp1 HG02129.hp1 HG02148.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18978.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19011.hp1 NA19067.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0018 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0075	14	418	0.0335	237	c.54 others(248): Show c.5440_*5441insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGCCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACCCTCAATGAAAT TTT	CREG1	ENSG00000143162.9	transcript	ENST00000370509.5	protein_coding		4155		chr1	TogoVar
CTDP1_chr18_79674803_79759503	79684903	A A	AGGGTGTG others(230): Show AGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCT ACTCCCAGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAG GAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTG CCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCG TGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03579.hp1 HG02970.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0014 a0001c0036 a0001c0014 a0001c0036	a0001c0014t0001 a0001c0036t0001 a0001c0014t0001 a0001c0036t0001	a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0036t0001g0013 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0036t0001g0013	3	378	0.0079	237	c.314 others(254): Show c.314+4697_314+4698insAGTTTCTCTGCGGTGCCCCTTACAGGGT GTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCC CGGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGA CGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCT TACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTC TCTACTCCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(230): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATAT TATATATTATATGTATATTATGTATACATAATATTTATATATTATATGTA TATTATGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	344	0.0029	237	c.896 others(254): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAATATATTATGTATACATA ATATACATATAATATATAATATATTATGTATACATAATATACATATAATA TATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATTTAT others(230): Show ATATTTATATATTATATGTATATTATGTATACATAATATATTATATATTA TATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGT ATACATAATATTTATATATTATATGTATATTATGTATACATAATATATTA TATATTATATGTATATTATGTATACATAATATATTATATATTATATGTAT ATTATGTATACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	344	0.0029	237	c.896 others(254): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATATATTATGTATACATAATATAC ATATAATATATAATATATTATGTATACATAATATACATATAATATATAAA TATTATGTATACATAATATACATATAATATATAATATATTATGTATACAT AATATACATATAATATATAATATATTATGTATACATAATATACATATAAT ATATAAATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUX2_chr12_111029165_111355554	111326223	T T	TTTTGTTT others(230): Show TTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGT TGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTT GTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGT TGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	100	0.0100	237	c.292 others(256): Show c.2926+3659_2926+3660insGGGTGGGGGAGGGGTGGGTTTTGTTT ATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGG AGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTA TAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGG GAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGT TTATAGTGTTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111332298	A A	AATTTTTG others(230): Show AATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp1 HG02559.hp2 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0028 a0001c0005t0001g0019 a0001c0005t0001g0028	2	100	0.0200	237	c.292 others(256): Show c.2927-2128_2927-2127insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGATTT TTGTATTTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DCLK2_chr4_150073445_150262438	150251133	T T	AATCCCCC others(230): Show AATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCC CCCAAATCCCCCACACCCCCCAAATCCCCCACATCCCCCCACATCCCCCA CACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCC CCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAA ATCCCCCACACCCCCCACATCCCCCACACCCCCCACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0051 a0002c0002t0004g0051	1	116	0.0086	237	c.207 others(251): Show c.2073+1449delTinsAATCCCCCACACCCCCCAAATCCCCCACACCC CCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCAC ATCCCCCCACATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCC CCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAA ATCCCCCACACCCCCCAAATCCCCCACACCCCCCACATCCCCCACACCCC CCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DGKB_chr7_14140049_14907751	14212196	T T	TTTTACTC others(230): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0073 a0001c0003t0005g0073	1	148	0.0068	237	c.212 others(258): Show c.2123-34046_2123-34045insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAA ACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAG AGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAA TCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAA ACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212418	G G	GTGTTTTG others(230): Show GTGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATATTTACTCTCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	148	0.0068	237	c.212 others(258): Show c.2123-34268_2123-34267insTGAGAGTAAATATCACAAAACATG AGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTA AAATCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAAATCACA AAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACAT GAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACACGAGAGTA AAATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(230): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	284	0.0035	237	c.101 others(256): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CACACACA others(230): Show CACACACACACACCCCCCCCACACACACACCCCCCCCCACACACACACCC CCCCCCACACACACACCCCCCCCACACACACACACCCCCCCCCCCACACA CACACACACACCCCCCACACACACACACACCCCCCCCCACACACACACAC CCCCCCACACACACACACACATCCCCCCCCACACACACACACATCCCCCC ACACACACACACACATCCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	88	0.0114	237	c.85+ others(254): Show c.85+80936_85+80937insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGTGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GTGTGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGGG TGTGTGTGTGTGTGTGGGGGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGT GTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGTG TGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123911763	T T	TGGGGGGG others(230): Show TGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGG GGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTG TGCTGGGGGGTCTGTCCTGGGCGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0102 a0014c0016t0001g0102	1	170	0.0059	237	c.101 others(258): Show c.10134+1097_10134+1098insGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGG GTCTGTCCTGGGGGGTCTGTGCTGGGGGGTCTGTCCTGGGCGGGGGGGTC TGTCCTGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78478100	T T	TCATCATC others(230): Show TCATCATCATCTCCACCATCACCACCACGTGGCATCATCACATCACCATC ATCACCATTACCACCATAACATCACCATCATCACCATTATCACCATCATA TCACCACCACCATCACTATCATCATAACTATCACCACCACCACCATCATC ACCACATCACCATCACCATCATCACCACCATCATCACCACCATCACCATT ATCACCACCACCATCACCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01109.hp2 others(21): Show HG00639.hp1 HG00738.hp2 HG01109.hp2 HG01258.hp1 HG01517.hp2 HG02004.hp2 HG02055.hp1 HG02293.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03486.hp2 HG03669.hp1 NA18906.hp1 NA18964.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0005 others(18): Show a0001 a0002 a0005 a0009 a0010 a0012 a0019 a0039 a0066 a0082 a0085 a0092 a0093 a0098 a0099 a0100 a0113 a0117 a0128 a0137 a0143	a0001c0138 a0002c0050 a0005c0021 others(21): Show a0001c0138 a0002c0050 a0005c0021 a0009c0144 a0010c0091 a0010c0212 a0012c0166 a0012c0167 a0019c0049 a0019c0080 a0039c0121 a0066c0137 a0082c0174 a0085c0206 a0092c0092 a0093c0181 a0098c0097 a0099c0177 a0100c0084 a0113c0210 a0117c0156 a0128c0190 a0137c0197 a0143c0015	a0001c0138t0001 a0002c0050t0002 a0005c0021t0001 others(21): Show a0001c0138t0001 a0002c0050t0002 a0005c0021t0001 a0009c0144t0001 a0010c0091t0005 a0010c0212t0001 a0012c0166t0001 a0012c0167t0001 a0019c0049t0002 a0019c0080t0001 a0039c0121t0001 a0066c0137t0002 a0082c0174t0002 a0085c0206t0006 a0092c0092t0001 a0093c0181t0001 a0098c0097t0001 a0099c0177t0001 a0100c0084t0001 a0113c0210t0001 a0117c0156t0002 a0128c0190t0001 a0137c0197t0001 a0143c0015t0002	a0001c0138t0001g0226 a0002c0050t0002g0004 a0005c0021t0001g0080 others(21): Show a0001c0138t0001g0226 a0002c0050t0002g0004 a0005c0021t0001g0080 a0009c0144t0001g0093 a0010c0091t0005g0003 a0010c0212t0001g0025 a0012c0166t0001g0047 a0012c0167t0001g0094 a0019c0049t0002g0144 a0019c0080t0001g0112 a0039c0121t0001g0036 a0066c0137t0002g0085 a0082c0174t0002g0153 a0085c0206t0006g0064 a0092c0092t0001g0134 a0093c0181t0001g0234 a0098c0097t0001g0105 a0099c0177t0001g0245 a0100c0084t0001g0177 a0113c0210t0001g0118 a0117c0156t0002g0161 a0128c0190t0001g0201 a0137c0197t0001g0110 a0143c0015t0002g0077	24	252	0.0952	237	c.799 others(254): Show c.7992+924_7992+925insGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGATAATGGTGATGGTGGTGATGATGGTGGTGATGATGGTGATG GTGATGTGGTGATGATGGTGGTGGTGGTGATAGTTATGATGATAGTGATG GTGGTGGTGATATGATGGTGATAATGGTGATGATGGTGATGTTATGGTGG TAATGGTGATGATGGTGATGTGATGATGCCACGTGGTGGTGATGGTGGAG ATGATGATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78478103	T T	TCATCATC others(230): Show TCATCATCTCCACCATCACCACCACGTGGCATCATCACATCACCATCATC ACCATTACCACCATAACATCACCATCATCACCATTATCACCATCATATCA CCACCACCATCACTATCATCATAACTATCACCACCACCACCATCATCACC ACATCACCATCACCATCATCACCACCATCATCACCACCATCACCATTATC ACCACCACCATCACCACCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0083 a0083	a0083c0078 a0083c0078	a0083c0078t0001 a0083c0078t0001	a0083c0078t0001g0067 a0083c0078t0001g0067	1	252	0.0040	237	c.799 others(254): Show c.7992+921_7992+922insGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGATAATGGTGATGGTGGTGATGATGGTGGTGATGATGGTG ATGGTGATGTGGTGATGATGGTGGTGGTGGTGATAGTTATGATGATAGTG ATGGTGGTGGTGATATGATGGTGATAATGGTGATGATGGTGATGTTATGG TGGTAATGGTGATGATGGTGATGTGATGATGCCACGTGGTGGTGATGGTG GAGATGATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541142	T T	TGGGGGGG others(230): Show TGGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGG GATGGGGGGGTGAGCGGGATGGGGGGGTGAGCGGGGTGGGGGGATGAGCA GGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGATGGGTGGGTGAGCGG GGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCG GGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0131 a0131	a0131c0159 a0131c0159	a0131c0159t0001 a0131c0159t0001	a0131c0159t0001g0095 a0131c0159t0001g0095	1	252	0.0040	237	c.253 others(256): Show c.2533-1263_2533-1262insCACCTGCTCATCCCCCCACCCCGCTC ACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCT CACCCCCCCACCCCGCTCACCCACCCATCTGCTCATCCCCCCACCCCGCT CACCCCCCCACCTGCTCATCCCCCCACCCCGCTCACCCCCCCATCCCGCT CACCCCCCCATCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGC TCACCCCCCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25106528	T T	TCAGACTC others(230): Show TCAGACTCTGTCTCTTAAATATATATATATATATATACATGTATTTATAT ATATGCACACATATAAAATATATATTAAATATGTGCACATATATAAAATA TGTGTATTATTAAATATGTATTATATAAATACATAATATATGCATAATAT ATATGTGTATATAATCTATAAATATGTGTATATATAATATATATTTTTAA TATGTGTATATATAATATATATTTTTTTAAGAGACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG06807.hp2 others(1): Show HG02258.hp2 HG03486.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233	4	336	0.0119	237	c.20 others(248): Show c.2019_*2020insTCTGTCTCTTAAAAAAATATATATTATATATACA CATATTAAAAATATATATTATATATACACATATTTATAGATTATATACAC ATATATATTATGCATATATTATGTATTTATATAATACATATTTAATAATA CACATATTTTATATATGTGCACATATTTAATATATATTTTATATGTGTGC ATATATATAAATACATGTATATATATATATATATATTTAAGAGACAGAGT CTG	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1760		chr12	TogoVar