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
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCAC others(171): Show CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGCGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	342	0.0029	178	c.135 others(197): Show c.1354-9359_1354-9358insCTGACCCCCCCACCTCCCTCGCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCGC others(171): Show CCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCTGTCCGCGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01516.hp1 others(4): Show HG00639.hp1 HG01243.hp2 HG01516.hp1 HG01981.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0022 a0001c0001 a0008c0022	a0001c0001t0001 a0008c0022t0001 a0001c0001t0001 a0008c0022t0001	a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0008c0022t0001g0276	7	342	0.0205	178	c.135 others(197): Show c.1354-9359_1354-9358insCTGACCCCCCCACCTCCCTCGCGGAC AGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGG GG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCGC others(171): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGCGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	342	0.0029	178	c.135 others(197): Show c.1354-9359_1354-9358insCTGACCCCCCCACCTCCCTCGCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGG GG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCGC others(171): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGCGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	342	0.0029	178	c.135 others(197): Show c.1354-9359_1354-9358insCTGACCCCCCCACCTCCCTCGCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTTCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955333	C C	CCCCCCGC others(171): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGCGAGGGAGGTGGGGGGGTCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(78): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19057.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0011 a0014 a0018 a0021	a0001c0001 a0001c0019 a0002c0004 others(5): Show a0001c0001 a0001c0019 a0002c0004 a0004c0010 a0011c0018 a0014c0013 a0018c0025 a0021c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0019t0001 a0002c0004t0002 a0004c0010t0001 a0011c0018t0002 a0014c0013t0001 a0018c0025t0001 a0021c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0052 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0331 a0001c0001t0006g0111 a0001c0001t0007g0066 a0001c0001t0008g0334 a0001c0019t0001g0069 a0002c0004t0002g0081 a0004c0010t0001g0329 a0004c0010t0001g0330 a0011c0018t0002g0143 a0014c0013t0001g0049 a0018c0025t0001g0077 a0021c0015t0001g0187	81	342	0.2368	178	c.135 others(197): Show c.1354-9359_1354-9358insCTGACCCCCCCACCTCCCTCGCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955372	G G	GGGGGGGG others(171): Show GGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	342	0.0029	178	c.135 others(197): Show c.1354-9398_1354-9397insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCC CC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128955551	G G	GGGGGGGT others(171): Show GGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC TGGCCAGCCACCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	342	0.0029	178	c.135 others(197): Show c.1354-9577_1354-9576insACCTCCCTCCCGGACGGGGTGGCTGG CCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CHM_chrX_85856180_86052558	85911164	T T	TATATATA others(171): Show TATATATATATATGAATATATATATATGAATATATATATGAATATATATA TGAATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATATATATGAATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0188 a0001c0001t0008g0188	1	245	0.0041	178	c.124 others(193): Show c.1244+96_1244+97insTCATATATATATATTCATATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATATTCATATATATATATTCATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CNR2_chr1_23865515_23918362	23899932	A A	AAAGGAAG others(171): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAAGAAGGAAA GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAA AAAAGAAAGAAAAGAAAGAAAGAGGGAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0138 a0001c0001t0070g0138	1	268	0.0037	178	c.-46 others(197): Show c.-46+13313_-46+13314insCTTCCCTCTTTCTTTCTTTTCTTTCT TTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899932	A A	AAAGGAAG others(171): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAA GAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAA AAAAGAAAGAAAAGAAAGAAAGAGGGAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	268	0.0037	178	c.-46 others(197): Show c.-46+13313_-46+13314insCTTCCCTCTTTCTTTCTTTTCTTTCT TTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL14A1_chr8_120120102_120378573	120348173	A A	ATATATAT others(171): Show ATATATATATGAAGCATATATAAAGCATATATATATGTATATATATGAAG CATATATAAAGCATATATATATGTATATATATGAAGCATATATAAAGCAT ATATATGTATATATATGAAGCATATATAAAGCATATATATATGTATATAT ATGAAGCATATATAAAGCATATATATATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0152 a0002c0016t0003g0152	1	218	0.0046	178	c.507 others(197): Show c.5077+2715_5077+2716insGTATATATATGAAGCATATATAAAGC ATATATATATGTATATATATGAAGCATATATAAAGCATATATATATGTAT ATATATGAAGCATATATAAAGCATATATATATGTATATATATGAAGCATA TATAAAGCATATATATATGTATATATATGAAGCATATATAAAGCATATAT AT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL21A1_chr6_56051590_56252580	56097878	T T	TATATAAA others(171): Show TATATAAATATATATAAATATATAAATATATATAAATATATAAATATATA AATATATGTAAATATAAATATATAAAAATATATATAAATATAAAAATGTA TATAAATATATAAATATATAAATATATATGTAAATATATAAATATATATA AATATATATAAATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	264	0.0038	178	c.181 others(197): Show c.1812+3593_1812+3594insTTATATATATTTATATATTTATATAT ATTTATATATATTTATATATTTACATATATATTTATATATTTATATATTT ATATACATTTTTATATTTATATATATTTTTATATATTTATATTTACATAT ATTTATATATTTATATATTTATATATATTTATATATTTATATATATTTAT AT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110481920	G G	GTTGCTGG others(171): Show GTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTTC TGTCCCTCTGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTT GCTGGAGACACACTGCTCTGTCCTTCCAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0002 a0002c0038t0002	a0002c0038t0002g0360 a0002c0038t0002g0360	1	372	0.0027	178	c.275 others(195): Show c.2759-595_2759-594insTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACA CACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(171): Show CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCT CTGTCCTTCCATTGCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02300.hp1 HG03831.hp2 others(2): Show HG02148.hp2 HG02300.hp1 HG03831.hp2 HG04199.hp1 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0007 others(1): Show a0001c0002 a0001c0005 a0003c0007 a0003c0018	a0001c0002t0002 a0001c0005t0001 a0003c0007t0006 others(2): Show a0001c0002t0002 a0001c0005t0001 a0003c0007t0006 a0003c0018t0004 a0003c0018t0006	a0001c0002t0002g0318 a0001c0005t0001g0182 a0003c0007t0006g0119 others(2): Show a0001c0002t0002g0318 a0001c0005t0001g0182 a0003c0007t0006g0119 a0003c0018t0004g0309 a0003c0018t0006g0145	5	372	0.0134	178	c.275 others(195): Show c.2759-551_2759-550insCTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCT TCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(171): Show TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03654.hp1 HG03239.hp1 HG03654.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0001 a0001c0001t0001 a0008c0009t0001	a0001c0001t0001g0242 a0008c0009t0001g0029 a0001c0001t0001g0242 a0008c0009t0001g0029	2	344	0.0058	178	c.88- others(195): Show c.88-35080_88-35079insGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACATATATGTGTATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(171): Show TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CGTATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0220 a0003c0002t0003g0220	1	344	0.0029	178	c.88- others(195): Show c.88-35080_88-35079insGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACGTATATGTGTATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(171): Show TGTATATATGTGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CGTATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19003.hp2 NA18945.hp1 NA19003.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0074 a0013c0015t0002g0075 a0013c0015t0002g0074 a0013c0015t0002g0075	2	344	0.0058	178	c.88- others(195): Show c.88-35080_88-35079insGTATATATGTGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACGTATATATACATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CATATATG others(171): Show CATATATGTGTATATATACACATATATGTGTATATATGTGTATATATACA CATATATGTATATATACATATATGTGTATATATGTGTATACATACATATA TGTGTATACATACATATATGTGTATATATGTGTATACATACATATATGTG TGTATATATGTGTATACATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0128 a0001c0001t0007g0128	1	344	0.0029	178	c.88- others(195): Show c.88-34593_88-34592insTATACACATATATGTGTATATATGTGTA TATATACACATATATGTATATATACATATATGTGTATATATGTGTATACA TACATATATGTGTATACATACATATATGTGTATATATGTGTATACATACA TATATGTGTGTATATATGTGTATACATATATGTGTGTATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3591124	A A	AGAGGGGC others(171): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0318 a0002c0002t0001g0318	1	378	0.0027	178	c.-40 others(189): Show c.-4071_-4070insGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		3987		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129424	A A	ATATATAT others(171): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATAT ATACTATATACTAATGTAATATACATTAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00597.hp2 others(26): Show HG00099.hp1 HG00408.hp2 HG00597.hp2 HG01168.hp2 HG01169.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02129.hp1 HG02135.hp2 HG02735.hp1 HG02922.hp1 HG03239.hp1 HG03654.hp2 HG03710.hp1 NA18942.hp1 NA18943.hp1 NA18950.hp1 NA18963.hp2 NA18965.hp2 NA18979.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19084.hp2 NA19090.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 others(26): Show a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0003c0006t0001g0203	29	350	0.0829	178	c.400 others(195): Show c.400-4635_400-4458dupCTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAGTATATATATACTATAT ACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATATA CATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116129460	A A	ATATATAT others(171): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATAT ATACTATATACTAATGTAATATACATTAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	350	0.0029	178	c.400 others(195): Show c.400-4599_400-4422dupCTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAGTATATATATACTATAT ACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATATA CATTAGTATATATATACTATATACTAATGTAATATACATTAGTATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTTCCCC others(171): Show CCTTCCCCTCCCTCCCTCCTCCTCCCTCCCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0322 a0001c0001t0001g0323	2	350	0.0057	178	c.510 others(197): Show c.510+23985_510+23986insTCCCCTCCCTCCCTCCTCCTCCCTCC CTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(171): Show CTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	350	0.0029	178	c.510 others(197): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158502	C C	CTCCCCTC others(171): Show CTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCC CTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCCCCCTC TCCCCTCTCCCCCTCTCCCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	350	0.0029	178	c.510 others(197): Show c.510+24324_510+24325insTCCCCTCTCTCCCTCTCCCCTCTCTC CCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCT CCCCTCTCTCCCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCC CT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89588004	C C	CCGTGTCA others(171): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACATGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACATGGCCCCCCGTGTTACCCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0324 a0002c0004t0002g0324	1	348	0.0029	178	c.928 others(193): Show c.928-666_928-665insCACCCGCGTGTCACCCACAGATACACGGCC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCACAGATACATGGCCCCCCGTGTTACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPOX_chr3_98574446_98598611	98594315	C C	CAAAAAAT others(171): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	448	0.0022	178	c.-81 others(187): Show c.-812_-811insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT	CPOX	ENSG00000080819.9	transcript	ENST00000647941.2	protein_coding		705		chr3	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(171): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	324	0.0031	178	c.101 others(195): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRISP2_chr6_49687359_49718543	49701610	G G	GTATATGT others(171): Show GTATATGTATACATTATATATGTATACATTATATATGTATACATTATATA TGTATACATTATATATGTATACATTATATATGTATACATTATATATGTAT ACATTATATATGTATACATTATATATGTATACATTATATATGTATACATT ATATATGTATACATTATATATGTATACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02615.hp2 HG02717.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0002g0164 a0001c0001t0001g0042 a0001c0001t0002g0164	3	410	0.0073	178	c.67- others(191): Show c.67-827_67-826insATGTATACATATATAATGTATACATATATAAT GTATACATATATAATGTATACATATATAATGTATACATATATAATGTATA CATATATAATGTATACATATATAATGTATACATATATAATGTATACATAT ATAATGTATACATATATAATGTATACATATATAATGTATACATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(171): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATTTCTATATATATATATTTCTATATA TATATATATTTCTATATATATATATATATTTCTATATATATATATATTTC TATATATATATATATTTCTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	370	0.0027	178	c.56 others(189): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATATTTCTATATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(171): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATTTCTATATATATATATTTCTATATA TATATATATTTCTATATATATATATATTTCTATATATATATATATTTCTA TATATATATATATTTCTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0114 a0001c0001t0032g0114	1	370	0.0027	178	c.56 others(189): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATATTTCTATATATATATATATTTCTATATATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(171): Show ATATATATATATATATATATATATATATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA19074.hp2 HG02922.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0200 a0001c0001t0042g0167 a0001c0001t0001g0200 a0001c0001t0042g0167	2	370	0.0054	178	c.56 others(189): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATTTCTATATATATATATTTCTATATATATATATATTTCTATATA TATATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(171): Show ATATATATATATATATATATATATATATATATATATATATATATATTTCT ATATATATATATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	370	0.0027	178	c.56 others(189): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATTTCTATATATATATATATATATATATATTTCTATATATA TATATATTTCTATATATATATATTTCTATATATATATATATTTCTATATA TATATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(171): Show ATATATATATATATATATATATATATATATATATATATATATATATTTCT ATATATATATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATAT ATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	370	0.0027	178	c.56 others(189): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATTTCTATATATATATATATATATATATTTCTATATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTCTATATATA TATATTTCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(171): Show ATATATATATATATATATATATATATATATATATATATATATATTTCTAT ATATATATATATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	370	0.0027	178	c.56 others(189): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATTTCTATATATATATATATATATATATATATTTCTATATATA TATATATTTCTATATATATATATTTCTATATATATATATATTTCTATATA TATATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923800	G G	GTCCCCAC others(171): Show GTCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCAGCCCCCAACACTAACCCAGCCCCCACACTGACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0331 a0002c0002t0002g0331	1	350	0.0029	178	c.488 others(195): Show c.488+1155_488+1156insTCCCCACACTAACCCAGCCCCCAACACT AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCC CACACTGACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GCCCCCCA others(171): Show GCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCAACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGCCCCCACACT AACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGCCCCCCACACTATCCCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0318 a0002c0002t0002g0318	1	350	0.0029	178	c.489 others(193): Show c.489-772_489-771insCACACTAACCCAGCCCCCACACTAACCCAG CCCCCAACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAACACTAAC CCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19701320	A A	ATTTTTGT others(171): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCCCCCCCTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0052 a0002c0003t0005g0052	1	238	0.0042	178	c.-39 others(199): Show c.-392+55865_-392+55866insATTAGCCGGGCGTAGGGGGGGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACA AAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CXorf51A_chrX_146809106_146819744	146812237	A A	ATATATGT others(171): Show ATATATGTACACATATATGTGTGTATATACATATATACACATATATGTAC ACATATACGTGTGTATATACATATATACACATATATGTACACATATACGT GTGTATATACATATATACACATATATGTACACATATATGTGTGTATATAC ATATATACACATATATGTACACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA19240.hp1 HG02622.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	264	0.0076	178	c.19 others(189): Show c.1969_*1970insCATATATGTGTACATATATGTGTATATATGTATA TACACACATATATGTGTACATATATGTGTATATATGTATATACACACGTA TATGTGTACATATATGTGTATATATGTATATACACACGTATATGTGTACA TATATGTGTATATATGTATATACACACATATATGTGTACATATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1868		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812237	A A	ATATATGT others(171): Show ATATATGTACACATATATGTGTGTATATACATATATACACATATATGTAC ACATATATGTGTGTATATACATATATACACATATATGTACACATATACGT GTGTATATACATATATACACATATATGTACACATATATGTGTGTATATAC ATATATACACATATATGTACACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	264	0.0038	178	c.19 others(189): Show c.1969_*1970insCATATATGTGTACATATATGTGTATATATGTATA TACACACATATATGTGTACATATATGTGTATATATGTATATACACACGTA TATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTACA TATATGTGTATATATGTATATACACACATATATGTGTACATATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1868		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812237	A A	ATATATGT others(171): Show ATATATGTACACATATATGTGTGTATATACATACATACACATATATGTAC ACATATACGTGTGTATATACATATATACACATATATGTACACATATACGT GTGTATATACATATATACACATATATGTACACATATACGTGTGTATATAC ATATATACACATATATGTACACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	178	c.19 others(189): Show c.1929_*1930insTATATGTACACATATATGTGTGTATATACATACA TACACATATATGTACACATATACGTGTGTATATACATATATACACATATA TGTACACATATACGTGTGTATATACATATATACACATATATGTACACATA TACGTGTGTATATACATATATACACATATATGTACACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1827		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812237	A A	ATATATGT others(171): Show ATATATGTACACATATATGTGTGTATATACATATATACACATATATGTAC ACATATACGTGTGTATATACATATATACACATATATGTACACATATACGT GTGTATATACATATATACACATATATGTACACATATATGTGTGTATATAC ATATATACACATATATGTACACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG03486.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	272	0.0147	178	c.19 others(189): Show c.1929_*1930insTATATGTACACATATATGTGTGTATATACATATA TACACATATATGTACACATATACGTGTGTATATACATATATACACATATA TGTACACATATACGTGTGTATATACATATATACACATATATGTACACATA TATGTGTGTATATACATATATACACATATATGTACACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1827		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812237	A A	ATATATGT others(171): Show ATATATGTACACATATATGTGTGTATATACATATATACACATATATGTAC ACATATATGTGTGTATATACATATATACACATATATGTACACATATACGT GTGTATATACATATATACACATATATGTACACATATATGTGTGTATATAC ATATATACACATATATGTACACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03453.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	272	0.0074	178	c.19 others(189): Show c.1929_*1930insTATATGTACACATATATGTGTGTATATACATATA TACACATATATGTACACATATATGTGTGTATATACATATATACACATATA TGTACACATATACGTGTGTATATACATATATACACATATATGTACACATA TATGTGTGTATATACATATATACACATATATGTACACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1827		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(171): Show ATATATGTGTGTATATATATATATATATATATATATGTGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATATATATGTGTATAT ATATATATATATATATGTGTATATATATATATATATATATATATATATAT GTGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0102 a0002c0002t0102	a0002c0002t0102g0252 a0002c0002t0102g0252	1	334	0.0030	178	c.290 others(193): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATGTGTGTATATATATATATATATATATATGTGTATATATATATATATA TATATATATGTGTATATATATATATATATATATGTGTATATATATATATA TATATATATATATATATGTGTATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP7B1_chr8_64585851_64803737	64686164	A A	AGCCGCCC others(171): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC ATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGTTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0012 a0002c0002t0039g0012	1	258	0.0039	178	c.123 others(197): Show c.123-61626_123-61625insAGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAACTCCCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCA GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(171): Show TATTATATAATATATATAATATATATATAATATATAATATATAATATATT ATTATATATATTATAAATTATATCATATATATAATATATATATTATATAT AATATATTATATATTATATAATATATAATATATATAATATATAATATATT ATATATAATATATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02257.hp1 others(4): Show HG01167.hp1 HG01169.hp1 HG02257.hp1 HG02622.hp2 HG02717.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0036 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0046	7	240	0.0292	178	c.36 others(189): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATGATATAATTTATAATATATATAATAATAT ATTATATATTATATATTATATATATATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(171): Show TATTATATAATATATATAATATATATATTATATATAATATATAATATATT ATTATATATATTATAAATTATATAATATATATAATATATATATTATATAT AATATATTATATATTATATAATATATAATATATATAATATATAATATATT ATATATAATATATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG01243.hp1 others(8): Show HG00323.hp1 HG00558.hp2 HG01243.hp1 HG02165.hp1 HG02896.hp1 HG04204.hp1 NA18948.hp1 NA18954.hp2 NA18962.hp1 NA18973.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0001g0098 a0001c0001t0001g0106 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0003g0022 a0001c0001t0003g0024	11	240	0.0458	178	c.36 others(189): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATTATATAATTTATAATATATATAATAATAT ATTATATATTATATATAATATATATATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(171): Show TATTATATAATATATATAATATATATATTATATATAATATATAATATATT ATTATATATATTATAAATTATATCATATATATAATATATATATTATATAT AATATATTATATATTATATAATATATAATATATATAATATATAATATATT ATATATAATATATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA18906.hp2 HG02809.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0023 a0001c0001t0001g0033 a0001c0001t0003g0023	2	240	0.0083	178	c.36 others(189): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATGATATAATTTATAATATATATAATAATAT ATTATATATTATATATAATATATATATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(171): Show TATTATATAATATATATATTATATATATTATATATAATATATAATATATT ATTATATATATTATAAATTATATAATATATATAATATATATATTATATAT AATATATTATATATTATATAATATATAATATATATAATATATAATATATT ATATATAATATATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA19074.hp2 NA18965.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0113 a0001c0001t0001g0115	2	240	0.0083	178	c.36 others(189): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATTATATAATTTATAATATATATAATAATAT ATTATATATTATATATAATATATATAATATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(171): Show ATGTGTGTGTATATATACATATATACTATATGTGTGTATATATATACATA TATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTATA TATATACATATATATACTATATATGTGTGTGTGTGTATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG03486.hp2 HG00741.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0027 a0001c0002t0011g0027	2	380	0.0053	178	c.-11 others(189): Show c.-1175_-1174insTGTGTGTGTATATATACATATATACTATATGTGT GTATATATATACATATATACTATATGTGTGTATATATATACATATATACT ATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTG TATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(171): Show ATGTGTGTGTATATATACATATATACTATATGTGTGTATATATATACATA TATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTATA TATATACATATATATACTATATATGTGTGTGTGTGTATATATATATATAT ATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0027 a0001c0002t0011g0027	1	380	0.0026	178	c.-11 others(189): Show c.-1175_-1174insTGTGTGTGTATATATACATATATACTATATGTGT GTATATATATACATATATACTATATGTGTGTATATATATACATATATACT ATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTG TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar

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