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
CACNA2D3_chr3_54117552_55079557	54763815	A A	ATATATAC others(189): Show ATATATACGTATATATACGTATATATATGTACATATATATACGTATATAT ACGTATATATATGTACATATATGTACGTATATATACGTATATATATGTAC ATATATGTACGTATATATACATATATATACGTATATATGTATATATATGT ACATATATATACGTATATATATGTATATATATGTACATATATATACG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0117 a0001c0040t0001g0117	1	94	0.0106	196	c.124 others(213): Show c.1247-397_1247-396insCGTATATATACGTATATATATGTACATA TATATACGTATATATACGTATATATATGTACATATATGTACGTATATATA CGTATATATATGTACATATATGTACGTATATATACATATATATACGTATA TATGTATATATATGTACATATATATACGTATATATATGTATATATATGTA CATATATATACGTATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763815	A A	ATATATAC others(189): Show ATATATACGTATATATACGTATATATATGTACGTATATATACGTATATAT ACGTATATATATGTACATATATATACGTATATATACGTATATATATGTAC ATATATGTACGTATATATACATATATATACGTATATATGTATATATATGT ACATATATATACGTATATATATGTATATATATGTACATATATATACG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0027 a0001c0012t0005g0027	1	94	0.0106	196	c.124 others(213): Show c.1247-397_1247-396insCGTATATATACGTATATATATGTACGTA TATATACGTATATATACGTATATATATGTACATATATATACGTATATATA CGTATATATATGTACATATATGTACGTATATATACATATATATACGTATA TATGTATATATATGTACATATATATACGTATATATATGTATATATATGTA CATATATATACGTATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12623327	C C	CCCTCCCT others(189): Show CCCTCCCTCCCTTCTTTCCTTCTTCCCTCCCTTCCTCCCTTCCTTTCTCC CTCCTTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTTCTT TCCCTCCTCCCTCCCTCCCTCTCTCCCTCCTTTCTTTCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCTTTCTTTCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0114 a0001c0001t0093g0114	1	211	0.0047	196	c.225 others(215): Show c.225-43400_225-43399insCTTCTTTCCTTCTTCCCTCCCTTCCT CCCTTCCTTTCTCCCTCCTTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTTCTTTCCCTCCTCCCTCCCTCCCTCTCTCCCTCCTTTCTT TCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCTTTCTTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(189): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01978.hp1 HG02135.hp2 others(5): Show HG00621.hp1 HG01978.hp1 HG02135.hp2 HG02738.hp1 HG02818.hp2 NA18941.hp2 NA18975.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0031 a0001c0001t0042 a0001c0001t0093 a0001c0001t0109	a0001c0001t0002g0197 a0001c0001t0011g0051 a0001c0001t0011g0209 others(5): Show a0001c0001t0002g0197 a0001c0001t0011g0051 a0001c0001t0011g0209 a0001c0001t0019g0162 a0001c0001t0031g0170 a0001c0001t0042g0003 a0001c0001t0093g0028 a0001c0001t0109g0198	8	157	0.0510	196	c.625 others(213): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111450631	T T	TACAAAAA others(189): Show TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGATAATGGCGTGAACCCGGGAGGCAGAGCTTGCA GTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0031 a0001c0001t0065g0031	1	243	0.0041	196	c.625 others(213): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10			chr5	TogoVar
CAMTA1_chr1_6780454_7774706	7114745	C C	CTGAGTCC others(189): Show CTGAGTCCGAAAACCTAAGAACCAGGAGAGCTGATGGTGGTGTTCCAGTG TGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGT GAGTCCGGAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTG AGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	35	0.0286	196	c.302 others(215): Show c.302+23389_302+23390insAAGAACCAGGAGAGCTGATGGTGGTG TTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGT TCCAGTGTGAGTCCGGAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTT CCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTC CAGTGTGAGTCCGAAAACCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	550778	T T	TCCCCGGT others(189): Show TCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGGTCGGTGAGGG CCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGC CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCC CCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03139.hp2 others(2): Show HG02895.hp1 HG02897.hp1 HG03139.hp2 HG03540.hp2 NA20129.hp1	a0003 a0009 a0003 a0009	a0003c0011 a0009c0020 a0003c0011 a0009c0020	a0003c0011t0006 a0003c0011t0017 a0009c0020t0006 a0003c0011t0006 a0003c0011t0017 a0009c0020t0006	a0003c0011t0006g0137 a0003c0011t0006g0200 a0003c0011t0017g0199 others(2): Show a0003c0011t0006g0137 a0003c0011t0006g0200 a0003c0011t0017g0199 a0009c0020t0006g0146 a0009c0020t0006g0147	5	355	0.0141	196	c.206 others(213): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGT CCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGAC CCGGTCGGTGAGGGCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(189): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGA AGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	43	0.0233	196	c.234 others(213): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCCTC TCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCC TTCCCCTTCCCCTTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCT TCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	18	0.0556	196	c.-22 others(207): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA19060.hp1 NA18974.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0002 a0001c0001t0002g0004	2	19	0.1053	196	c.-22 others(207): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	18	0.0556	196	c.-22 others(207): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	18	0.0556	196	c.-22 others(207): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	18	0.0556	196	c.-22 others(207): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(189): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	18	0.0556	196	c.-22 others(207): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310304	A A	AGTCAGCC others(189): Show AGTCAGCCCCCCACCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03540.hp2 HG01891.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0223 a0001c0002t0001g0178 a0001c0002t0001g0223	2	309	0.0065	196	c.12 others(207): Show c.1245_*1246insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGG TGGGGGGCTGAC	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding		1065		chr14	TogoVar
CCND2_chr12_4268762_4310353	4309624	A A	ATGCTCTG others(189): Show ATGCTCTGCTCTGGAATGCCCCCGCTCTGTGCTCTGCTCTGGAATGCCCC CGCTCTGTGCTCTGCTCTGGAATGCCCCCGCTCTGTGCTCTGCTCTGGAA TGCCCCCGCTCTGTGCTCTGCTCTGGAATGCCCCCGCTCTGTGCTCTGCT CTGGAATGCCCCCGCTCTGTGCTCTGCTCTGGAATGCCCCCGCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0209 a0001c0002t0005g0209	1	418	0.0024	196	c.96 others(207): Show c.9615_*9616insTGCTCTGCTCTGGAATGCCCCCGCTCTGTGCTCT GCTCTGGAATGCCCCCGCTCTGTGCTCTGCTCTGGAATGCCCCCGCTCTG TGCTCTGCTCTGGAATGCCCCCGCTCTGTGCTCTGCTCTGGAATGCCCCC GCTCTGTGCTCTGCTCTGGAATGCCCCCGCTCTGTGCTCTGCTCTGGAAT GCCCCCGCTCTG	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding		4272		chr12	TogoVar
CD3G_chr11_118339344_118360161	118355861	A A	ATATACGC others(189): Show ATATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02027.hp2 HG02056.hp2 others(2): Show HG00323.hp2 HG02027.hp2 HG02056.hp2 HG02559.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0005 a0001c0001t0003g0105 a0001c0001t0020g0023 a0001c0001t0003g0005 a0001c0001t0003g0105 a0001c0001t0020g0023	5	277	0.0181	196	c.27 others(207): Show c.2761_*2762insTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTG	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		701		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355930	C C	CACACATA others(189): Show CACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATA CGCATACACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0002	1	353	0.0028	196	c.28 others(207): Show c.2830_*2831insACACATATGTGTGTGTATACGCATACACACACAT ATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		770		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355930	C C	CACACATA others(189): Show CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0033 a0002c0002t0013g0033	1	353	0.0028	196	c.28 others(207): Show c.2830_*2831insACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		770		chr11	TogoVar
CDC40_chr6_110175427_110237232	110185397	T T	TACGCCCG others(189): Show TACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGTCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0186 a0001c0001t0005g0186	1	322	0.0031	196	c.189 others(213): Show c.189+4790_189+4791insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGTCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGG CTAATTTTTTGTATTTTT	CDC40	ENSG00000168438.15	transcript	ENST00000307731.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(189): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG01943.hp2 others(16): Show HG00438.hp2 HG01256.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02273.hp1 HG03669.hp1 NA18942.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA19007.hp2 NA19011.hp1 NA19060.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0027 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0177 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0261 a0001c0002t0001g0264	19	218	0.0872	196	c.12 others(207): Show c.1214_*1215insTATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTATATAG others(189): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 NA18959.hp1 NA19065.hp1 HG01928.hp1 NA18959.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0014 a0001c0004t0001g0008 a0001c0004t0001g0013 a0001c0002t0001g0014 a0001c0004t0001g0008 a0001c0004t0001g0013	3	166	0.0181	196	c.11 others(207): Show c.1196_*1197insTATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CEP72_chr5_607340_658553	650869	G G	GACTGTGA others(189): Show GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGA CTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	89	0.0112	196	c.177 others(215): Show c.1779-2119_1779-2118insACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	650883	G G	GACTGTGA others(189): Show GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03834.hp2 HG04228.hp2 HG02602.hp1 HG03834.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0069 a0002c0002t0001g0078 a0002c0002t0001g0085	3	90	0.0333	196	c.177 others(215): Show c.1779-2105_1779-2104insACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGA GGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP299_chr4_80330730_80968750	80800557	T T	TTATATAA others(189): Show TTATATAATATATTAATATAAATATATAATATATAATATATTAATATAAA TATATAATATATAATATATTAATATAAATATATAATATATAATATATTAA TATAAATATATAATATATAATATATTAATATAAATATATAATATATAATA TATTAATATAAATATATAATATATAATATATTAATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG00639.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0041 a0002c0002t0001g0020 a0001c0001t0001g0041 a0002c0002t0001g0020	2	65	0.0308	196	c.334 others(215): Show c.334-69347_334-69346insAATATATTAATATAAATATATAATAT ATAATATATTAATATAAATATATAATATATAATATATTAATATAAATATA TAATATATAATATATTAATATAAATATATAATATATAATATATTAATATA AATATATAATATATAATATATTAATATAAATATATAATATATAATATATT AATATAAATATATAATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP52_chr17_9571642_9648447	9630990	A A	AAAAGAAA others(189): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	296	0.0034	196	c.117 others(215): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20337382	A A	ATGGATGG others(189): Show ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02896.hp2 others(1): Show HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1	a0002 a0010 a0002 a0010	a0002c0009 a0010c0020 a0002c0009 a0010c0020	a0002c0009t0002 a0002c0009t0003 a0010c0020t0002 a0002c0009t0002 a0002c0009t0003 a0010c0020t0002	a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 others(1): Show a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0010c0020t0002g0123	4	86	0.0465	196	c.342 others(215): Show c.3423-4440_3423-4439insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGAT AGATGGGTGGGTGGATGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP97D2_chr13_114174257_114228085	114200104	T T	TCCCCGCT others(189): Show TCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAG GCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCG CGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCTGTGC TTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGGTC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	397	0.0025	196	c.172 others(211): Show c.172-210_172-209insGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGT CCCTGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTT CGGTCCCCCGCTGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(189): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(144): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18997.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19083.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0017 a0001c0001t0021 others(10): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0048 a0001c0001t0052 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0017g0025 a0001c0001t0017g0108 a0001c0001t0021g0002 a0001c0001t0022g0106 a0001c0001t0024g0113 a0001c0001t0026g0120 a0001c0001t0038g0121 a0001c0001t0040g0110 a0001c0001t0041g0007 a0001c0001t0048g0002 a0001c0001t0052g0064 a0002c0003t0001g0002 a0003c0004t0001g0002	147	162	0.9074	196	c.28 others(207): Show c.2898_*3093dupCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNIH4_chr1_224351879_224384452	224378702	A A	ACATCTGA others(189): Show ACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAA CATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAAC ATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0002 a0001c0001t0035g0002	1	322	0.0031	196	c.30 others(207): Show c.3075_*3076insGCATCTGAATGCTGAGGCCTAGAGATCGTTCAGG GTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGG TGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGT GTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTG TTGTAACTGGGA	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3076	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNIH4_chr1_224351879_224384452	224378738	G G	GTTGTAAC others(189): Show GTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTG TTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGT TGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTT GTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0001 a0001c0001t0032g0001	1	322	0.0031	196	c.30 others(207): Show c.3093_*3094insCTAGAGATCGTTCAGGGTATTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN6_chr3_1088024_1409217	1311535	C C	CATATAAA others(189): Show CATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTA TATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTATATGTACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0212 a0001c0008t0001g0212	1	147	0.0068	196	c.762 others(215): Show c.762-10108_762-10107insATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACA TATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTATATG TACATATATGTGTATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(189): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	90	0.0111	196	c.126 others(213): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGTAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC CGAAGGAGGCAATCTTTT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(189): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01074.hp2 others(25): Show HG00280.hp2 HG00642.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01496.hp2 HG01891.hp1 HG02132.hp2 HG02148.hp2 HG02559.hp1 HG02886.hp1 HG03098.hp2 HG03942.hp1 HG04228.hp2 NA18947.hp2 NA18949.hp1 NA18955.hp1 NA18965.hp2 NA18967.hp1 NA18972.hp1 NA18978.hp1 NA18994.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19077.hp2 NA19240.hp1 NA20752.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0006 a0001c0014 others(8): Show a0001c0001 a0001c0006 a0001c0014 a0001c0025 a0003c0003 a0004c0004 a0004c0009 a0005c0005 a0007c0011 a0007c0035 a0008c0013	a0001c0001t0001 a0001c0001t0010 a0001c0006t0002 others(11): Show a0001c0001t0001 a0001c0001t0010 a0001c0006t0002 a0001c0014t0001 a0001c0025t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0002 a0004c0009t0001 a0004c0009t0002 a0005c0005t0001 a0007c0011t0001 a0007c0035t0001 a0008c0013t0001	a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0091 others(24): Show a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0010g0135 a0001c0006t0002g0094 a0001c0006t0002g0210 a0001c0014t0001g0092 a0001c0025t0001g0099 a0003c0003t0001g0045 a0003c0003t0001g0132 a0003c0003t0002g0114 a0004c0004t0002g0237 a0004c0009t0001g0221 a0004c0009t0001g0242 a0004c0009t0002g0284 a0005c0005t0001g0023 a0005c0005t0001g0209 a0005c0005t0001g0236 a0007c0011t0001g0194 a0007c0011t0001g0195 a0007c0035t0001g0260 a0008c0013t0001g0215	28	117	0.2393	196	c.126 others(213): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC CGAAGGAGGCAATCTTTT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(189): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0152 a0003c0020t0001g0152	1	90	0.0111	196	c.126 others(213): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC CGAAGGAGGCAATCTTTT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55			chr10	TogoVar
COL19A1_chr6_69861556_70217468	69921459	A A	ATCATATA others(189): Show ATCATATATATCATATATATCATATATATCATATATATCATATATATCAT ATATCATATATATCATATATATCATATATATCATATATATCATATATCAT ATATATCATATATATTCATATATTCATATATATCATATATATTCATATAT TCATATATATTCATATATATCATATATATTCATATATTCATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG00099.hp2 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0059 a0001c0002t0008g0160 a0001c0002t0002g0059 a0001c0002t0008g0160	2	164	0.0122	196	c.267 others(213): Show c.267-6440_267-6439insCATATATATCATATATATCATATATATC ATATATATCATATATCATATATATCATATATATCATATATATCATATATA TCATATATCATATATATCATATATATTCATATATTCATATATATCATATA TATTCATATATTCATATATATTCATATATATCATATATATTCATATATTC ATATATATTCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098124	A A	AGTATATA others(189): Show AGTATATAAATATATATATAAATATATATAAGTATATAAATATATATAAA TATATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAA TATATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAG TATATATAAATATATATAAATATATATAAGTATATGCAAATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	256	0.0039	196	c.181 others(215): Show c.1812+3347_1812+3348insATATATATTTGCATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTTTATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATATTTATATACTTATATATATTTATATATATTTATATACTTATATATAT TTATATATATATTTATATAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110355385	G G	GGGGGGAG others(189): Show GGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0110 a0002c0110	a0002c0110t0008 a0002c0110t0008	a0002c0110t0008g0014 a0002c0110t0008g0014	1	267	0.0037	196	c.100 others(213): Show c.100-1976_100-1975insTACAGCTCACCTGTGTGAGTGGGGAGGG CTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTG TGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGC TGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202982	C C	CATATATG others(189): Show CATATATGTGTATATATACATATATGTGTATATATGTGTATATATACATA TATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATG TGTATATATACATATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03239.hp1 HG03654.hp1 HG01433.hp1 HG03239.hp1 HG03654.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0002 a0008c0009 a0001c0001 a0003c0002 a0008c0009	a0001c0001t0001 a0003c0002t0003 a0008c0009t0001 a0001c0001t0001 a0003c0002t0003 a0008c0009t0001	a0001c0001t0001g0252 a0003c0002t0003g0197 a0008c0009t0001g0029 a0001c0001t0001g0252 a0003c0002t0003g0197 a0008c0009t0001g0029	3	118	0.0254	196	c.88- others(213): Show c.88-34982_88-34981insATGTGTATATATACATATATGTGTATAT ATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATAC ATATATGTGTATATATGTGTATATATACATATATATACATATATGTGTAT ATATACGTATATATACATATATGTGTATATATACGTATATATACATATAT GTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203759	A A	ATATGTGT others(189): Show ATATGTGTATATATACGTATATGTGTGTATATGTGTATATATACGTATGT GTGTATATGTGTATATATACGTATATGTGTGTATATGTGTATATATACGT ATATGTGTATATGTGTATATATACGTATATGTGTGTATATGTATATATAC GTATATGTGTATATATACGTATATGTGTGTATATACGTATATGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp2 NA19074.hp2 HG02630.hp1 HG03098.hp2 NA19074.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0011 a0001c0001 a0002c0004 a0003c0011	a0001c0001t0002 a0002c0004t0001 a0003c0011t0001 a0001c0001t0002 a0002c0004t0001 a0003c0011t0001	a0001c0001t0002g0255 a0002c0004t0001g0089 a0003c0011t0001g0143 a0001c0001t0002g0255 a0002c0004t0001g0089 a0003c0011t0001g0143	3	310	0.0097	196	c.88- others(213): Show c.88-34206_88-34205insGTGTATATATACGTATATGTGTGTATAT GTGTATATATACGTATGTGTGTATATGTGTATATATACGTATATGTGTGT ATATGTGTATATATACGTATATGTGTATATGTGTATATATACGTATATGT GTGTATATGTATATATACGTATATGTGTATATATACGTATATGTGTGTAT ATACGTATATGTGTGTAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(189): Show CACCCCCCACCGTGCTCCACCCCCCACCACAGTCCCCCACCCCCCACCCC AGTCCCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACC CCCTACCACAGTCCCCCACCCCCTACCACAGTCCCCCAACCCCCACCACA GTCCCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(32): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00609.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02080.hp2 HG02257.hp2 HG02273.hp2 HG02602.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 NA18944.hp1 NA18944.hp2 NA18957.hp1 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp2 NA19060.hp1 NA19079.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0032 a0001c0044	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0002 a0001c0004t0004 a0001c0032t0001 a0001c0044t0001	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0028 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0168 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0003g0027 a0001c0002t0001g0043 a0001c0002t0001g0059 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0001g0261 a0001c0004t0002g0134 a0001c0004t0002g0260 a0001c0004t0004g0263 a0001c0032t0001g0029 a0001c0044t0001g0234	35	293	0.1195	196	c.128 others(211): Show c.1287+69_1287+70insCACCGTGCTCCACCCCCCACCACAGTCCCC CACCCCCCACCCCAGTCCCCAAACCCCTACCACAGTCCCCCAACCCCACC ACAGTCCCCCACCCCCTACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCCACCACAGTCCCCCACCCCCACCACAGTCCGCCAACCCCCATGA CAGTCCCTCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(189): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	200	0.0050	196	c.510 others(215): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CGTCTCCTCTCTCCCCCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(189): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	200	0.0050	196	c.510 others(215): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTC CGTCTCCTCTCTCCCCCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGGAA others(189): Show GAAGGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	146	0.0068	196	c.735 others(211): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTTCCTTCCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89588095	C C	CCGTGTCA others(189): Show CCGTGTCACCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGTGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	232	0.0043	196	c.928 others(211): Show c.928-570_928-569insCCGTGTTACCCACAGATACACGGCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCCCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCGTGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF1_chr8_144388231_144414335	144398167	A A	AGGGCCCA others(189): Show AGGGCCCAACCACCTCCCCGCCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCGGATGCCCAGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCA CCTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCACCTCCCCACC ACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGCCCAGGGC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	199	0.0050	196	c.189 others(211): Show c.1895-36_1895-35insGCCCTGGGCATCCGCCTGCTGGAAGGAGGT AGGTGGGTGGGGACGGTGGTGGGGAGGTGGTTGGGCCCTGGGCATCCGCC TGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGC CCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGCGG GGAGGTGGTTGGGCCC	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(189): Show ATATATATATATATATATATATTTCTATATATATATATATATATATTTCT ATATATATATATATATATATATTTCTATATATATATATATATTTCTATAT ATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATAT ATATATTTCTATATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	156	0.0064	196	c.56 others(207): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATTTCTATATATATATATATATATATATTTCTATATATATA TATATATTTCTATATATATATATTTCTATATATATATATTTCTATATATA TATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATA TATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CTDP1_chr18_79674803_79759503	79746182	T T	TCCCCGCG others(189): Show TCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCTGCGTCCCTCCCGTGCGC GTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTCCCTCCC GTGCGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTC CCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0313 a0004c0004t0001g0313	1	366	0.0027	196	c.274 others(215): Show c.2748-7450_2748-7449insCGTTCTGTGCCTGCGTCCCTCCCGTG CGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTCCCT CCCGTGCGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGC GTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGA CCCCGCGTCCCTCCCGTGCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746259	C C	CGTTCTGA others(189): Show CGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTCCCTCC CGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGT CCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCC CCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	363	0.0028	196	c.274 others(215): Show c.2748-7387_2748-7386insACCCCGCGTCCCTCCCGTGCGCGTTC TGACCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGC GCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTC CCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCG TCCCTCCCGTGCGGGTTCTG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746344	G G	GTTCTGAC others(189): Show GTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCC GTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTC CCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCC CGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTCCCTCCCGTGCGCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18979.hp2 NA19090.hp2 HG02074.hp2 NA18979.hp2 NA19090.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0301 a0004c0004t0001g0305 a0004c0004t0001g0310 a0004c0004t0001g0301 a0004c0004t0001g0305 a0004c0004t0001g0310	3	370	0.0081	196	c.274 others(215): Show c.2748-7299_2748-7298insCGCGTCCCTCCCGTGCGCGTTCTGTC CCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGT TCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGT GCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTCCC TCCCGTGCGCATTCTGACCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar

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