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
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(169): Show GCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACAC CGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGG AGTCCCCCCGGCCGCCCCCGCCCCAGCCACCGCCCCCGCCCCCGCCCCCG CCCCCCCCCCGCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0304 a0002c0004t0002g0304	1	348	0.0029	176	c.927 others(191): Show c.927+237_927+238insACCCCGCCCCCTCAGTCAGTGGCCCCGCCC CCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCC AGATACCTGGAGTCCCCCCGGCCGCCCCCGCCCCAGCCACCGCCCCCGCC CCCGCCCCCGCCCCCCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCGT others(169): Show GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	348	0.0029	176	c.927 others(191): Show c.927+672_927+673insTACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTCA others(169): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCAC AGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0278 a0001c0002t0002g0278	1	348	0.0029	176	c.927 others(191): Show c.927+693_927+694insGCGTGTCACCCACAGATACACGGCCCCCGT GTCAGCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(169): Show GCGTGTCACCCACAGATACATGGCCCCCCGTGTTACCCGCGTGTCACCCA CAGAAACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCC CCCCGTGTTACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	348	0.0029	176	c.928 others(191): Show c.928-450_928-449insTGGCCCCCCGTGTTACCCGCGTGTCACCCA CAGAAACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCC CCCCGTGTTACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597987	T T	TCCATCCA others(169): Show TCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACC CATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCA CCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACC CACCCATCCATCCACCCATCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02280.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0336 a0001c0009t0001g0013 a0001c0001t0001g0336 a0001c0009t0001g0013	2	348	0.0058	176	c.13 others(187): Show c.1366_*1367insCCATCCATCCCCCCACCCACCCATCTGTCCACCC ATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGT CCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCC ATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		742		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597987	T T	TCCATCCA others(169): Show TCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACC CATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCA CCCATCCATCCACCCATTCCCCCACCCACCCATCCATCCATCCCCCCACC CACCCATCCATCCACCCATCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	348	0.0029	176	c.13 others(187): Show c.1366_*1367insCCATCCATCCCCCCACCCACCCATCTGTCCACCC ATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGT CCACCCATCCGTCCACCCATCCATCCACCCATTCCCCCACCCACCCATCC ATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		742		chr16	TogoVar
CPSF1_chr8_144388231_144414335	144398179	A A	ACCCACCT others(169): Show ACCCACCTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCACCTCC CCCCCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGCCCAGG GCCCAACCACCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCA GGCGGATGCCCAGGGCCCAACCACCCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	350	0.0029	176	c.189 others(191): Show c.1895-48_1895-47insGGGGTGGTTGGGCCCTGGGCATCCGCCTGC TGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGAGGTGGTTGGGCCCT GGGCATCCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGGGGGGA GGTGGTTGGGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTGGG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(169): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCC CAGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCC AGCAGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18987.hp2 NA18994.hp2 HG03669.hp1 NA18987.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0043 a0001c0001t0001g0123 a0001c0001t0001g0136	3	350	0.0086	176	c.189 others(191): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGGTGGTTGGGCCCTGGGCA TCCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATAGATA others(169): Show GATAGATAGATATATATATATATATATATATATATATATATATATATATA TATATATTTCTATATATATATATATATATATATTTCTATATATATATATA TTTCTATATATATATATTTCTATATATATATATATTTCTATATATATATA TTTCTATATATATATATTTCTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	370	0.0027	176	c.56 others(187): Show c.5634_*5635insATAGATAGATATATATATATATATATATATATAT ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATTTCTATATATATATATTTCTATATATATATATAT TTCTATATATATATATTTCTATATATATATATTTCTATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(169): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATATTTCTATATATATATATTTCTATA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0093 a0001c0001t0014g0093	1	370	0.0027	176	c.56 others(187): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATAT ATATATATTTCTATATATATATATATATTTCTATATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(169): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATTTCTATATATATATATATATTTCTA TATATATATATTTCTATATATATATATATTTCTATATATATATATATTTC TATATATATATATATTTCTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0078 a0001c0001t0030g0078	1	370	0.0027	176	c.56 others(187): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATAT ATATATATATTTCTATATATATATATTTCTATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATATTTCTATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(169): Show ATATATATATATATATATATATATATATATATATATATATATATATATTT CTATATATATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	370	0.0027	176	c.56 others(187): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATATTTCTATATATATATATATATATATTTCTATATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTCTATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(169): Show ATATATATATATATATATATATATATATATATATATATATATATATTTCT ATATATATATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	370	0.0027	176	c.56 others(187): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATTTCTATATATATATATATATATATATTTCTATATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTCTATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(169): Show ATATATATATATATATATATATATATATATATATATATATATATTTCTAT ATATATATATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	370	0.0027	176	c.56 others(187): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATTTCTATATATATATATATATATATATATTTCTATATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTCTATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(169): Show ATATATATATATATATATATATATATATATATGTATATATTTCTATATAT ATATATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	370	0.0027	176	c.56 others(187): Show c.5645_*5646insTATATATATATATATATATATATATATATATGTA TATATTTCTATATATATATATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(169): Show ATATATATATATATATATATATATATATATGTATATATTTCTATATATAT ATATATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	370	0.0027	176	c.56 others(187): Show c.5645_*5646insTATATATATATATATATATATATATATATGTATA TATTTCTATATATATATATATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(169): Show ATATATATATATATATATATATATATTTCTATATATATATATATATATAT ATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATAT ATATTTCTATATATATATATTTCTATATATATATATTTCTATATATATAT ATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	370	0.0027	176	c.56 others(187): Show c.5645_*5646insTATATATATATATATATATATATATTTCTATATA TATATATATATATATATATATTTCTATATATATATATATTTCTATATATA TATATTTCTATATATATATTTCTATATATATATATTTCTATATATATATA TTTCTATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(169): Show ATATATATATATATTTCTATATATATATATATATATATATATATATATAT TTCTATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG01884.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0156 a0001c0001t0001g0157	2	370	0.0054	176	c.56 others(187): Show c.5645_*5646insTATATATATATATTTCTATATATATATATATATA TATATATATATATATTTCTATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923626	A A	AGCCCCCC others(169): Show AGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACT AACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19002.hp1 NA18962.hp1 NA19002.hp1	a0006 a0009 a0006 a0009	a0006c0007 a0009c0010 a0006c0007 a0009c0010	a0006c0007t0001 a0009c0010t0001 a0006c0007t0001 a0009c0010t0001	a0006c0007t0001g0195 a0009c0010t0001g0223 a0006c0007t0001g0195 a0009c0010t0001g0223	2	350	0.0057	176	c.488 others(191): Show c.488+987_488+988insCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC	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(169): Show ATTTTTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCCCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0238 a0001c0002t0048g0238	1	238	0.0042	176	c.-39 others(197): Show c.-392+55865_-392+55866insATTAGCCGGGCGTAGTGGGGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATACAAA AA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1968051	C C	CGACCACC others(169): Show CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTG CCCCTGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCC TCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCC TCCTCCCTTCTCCCCAGGCTGCCCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00423.hp2 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0289 a0001c0001t0001g0296	2	382	0.0052	176	c.-26 others(195): Show c.-265-1457_-265-1456insGACCACCCTTCAGTTCTGCAGGTGGG GCTCCTCCCTCCTCCCCAGGCTGCCCCTGACCACCCTTCAGTTCTGCAGG TGGGGCTCCTCCTTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCA GTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(169): Show ATATATGTGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0100 a0002c0002t0100	a0002c0002t0100g0281 a0002c0002t0100g0281	1	334	0.0030	176	c.290 others(191): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP7B1_chr8_64585851_64803737	64686086	C C	CATCCGGG others(169): Show CATCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCACCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0098 a0001c0001t0040g0098	1	258	0.0039	176	c.123 others(195): Show c.123-61548_123-61547insAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686100	G G	GTGGGGGG others(169): Show GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCACCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCTGTCCGGGAGGGAGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02258.hp2 others(5): Show HG01109.hp1 HG02257.hp1 HG02258.hp2 HG02572.hp2 HG03098.hp1 HG03130.hp2 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0009 a0001c0001t0009 a0002c0002t0009	a0001c0001t0009g0230 a0002c0002t0009g0002 a0002c0002t0009g0003 others(5): Show a0001c0001t0009g0230 a0002c0002t0009g0002 a0002c0002t0009g0003 a0002c0002t0009g0004 a0002c0002t0009g0005 a0002c0002t0009g0006 a0002c0002t0009g0015 a0002c0002t0009g0017	8	258	0.0310	176	c.123 others(195): Show c.123-61562_123-61561insACTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686100	G G	GTGGGGGG others(169): Show GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCTGGGAGGTGAG GGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCTGTCCGGGAGGGAGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0255 a0001c0001t0065g0255	1	258	0.0039	176	c.123 others(195): Show c.123-61562_123-61561insACTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686164	A A	AGCCGCCC others(169): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC ATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGTTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0093 a0001c0001t0009g0093	1	258	0.0039	176	c.123 others(195): Show c.123-61626_123-61625insAGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAACTCCCTCCCGG ACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686201	G G	GGCCAGCC others(169): Show GGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGGAGTTGGGGGGGTCAGCCCTCCGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp2 HG01943.hp2 others(35): Show HG00621.hp1 HG01123.hp2 HG01943.hp2 HG01993.hp1 HG02074.hp2 HG02109.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18941.hp1 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19006.hp2 NA19010.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19076.hp2 NA19079.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0001 others(34): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0005g0023 a0001c0001t0013g0052 a0001c0001t0018g0025 a0001c0001t0018g0059 a0001c0001t0018g0062 a0001c0001t0021g0042 a0001c0001t0021g0051 a0001c0001t0021g0054 a0001c0001t0024g0031 a0001c0001t0024g0038 a0001c0001t0030g0049	38	258	0.1473	176	c.123 others(195): Show c.123-61663_123-61662insTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCAGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGAGGGCTGACCCCCCCAACTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686201	G G	GGCCAGCC others(169): Show GGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCTCCCG GCCAGCCGCCCTGTCCGGGAGGGAGTTGGGGGGGTCAGCCCTCCGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	258	0.0039	176	c.123 others(195): Show c.123-61663_123-61662insTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCAGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGAGGGCTGACCCCCCCAACTCCCTCCCGGACAGGGCGGCTGG CCGGGAGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(169): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC GCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCGCAGGCAGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG02056.hp1 others(8): Show HG00280.hp2 HG00438.hp2 HG02056.hp1 HG02257.hp2 HG02258.hp2 HG02886.hp2 NA18950.hp1 NA18983.hp2 NA18998.hp1 NA19011.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0003 a0002c0003t0001	a0001c0001t0001g0326 a0001c0001t0002g0210 a0001c0001t0005g0358 others(8): Show a0001c0001t0001g0326 a0001c0001t0002g0210 a0001c0001t0005g0358 a0001c0006t0003g0183 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0039 a0002c0003t0001g0046 a0002c0003t0001g0058 a0002c0003t0001g0077 a0002c0003t0001g0085	11	380	0.0290	176	c.121 others(193): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCG CCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(169): Show ATGTGTGTGTATATATACATATATACTATATGTGTGTATATATATACATA TATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTATA TATATACATATATATACTATATATGTGTGTGTGTGTATATATATATATAT ATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03579.hp2 HG02922.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0048 a0001c0002t0011g0048	2	380	0.0053	176	c.-11 others(187): Show c.-1175_-1174insTGTGTGTGTATATATACATATATACTATATGTGT GTATATATATACATATATACTATATGTGTGTATATATATACATATATACT ATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTG TATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(169): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0015 a0001c0002t0042g0015	1	380	0.0026	176	c.-11 others(187): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATATTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(169): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0021 a0001c0002t0007g0021	1	380	0.0026	176	c.-11 others(187): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATATTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DDX51_chr12_132131594_132149319	132136117	T T	TCCTCCCA others(169): Show TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGC CCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCACGGTGCCCGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG00733.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	176	c.31 others(187): Show c.3154_*3155insTAGCGGGCACCGTGGGCACACTCGGGAGGTGGGA GGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGG GGCACACTCGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGT GGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		476		chr12	TogoVar
DDX51_chr12_132131594_132149319	132148962	T T	TACCACAC others(169): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0009 a0004c0004t0008g0009	1	334	0.0030	176	c.-46 others(187): Show c.-4667_-4666insGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAG GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4644		chr12	TogoVar
DDX51_chr12_132131594_132149319	132148962	T T	TACCACAC others(169): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0025 a0007c0008t0025	a0007c0008t0025g0083 a0007c0008t0025g0083	1	334	0.0030	176	c.-46 others(187): Show c.-4667_-4666insGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTATGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4644		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149094	T T	TACCACAC others(169): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	334	0.0030	176	c.-47 others(187): Show c.-4799_-4798insGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4776		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149094	T T	TACCACAC others(169): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	176	c.-47 others(187): Show c.-4799_-4798insGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAG GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4776		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149138	T T	TACCACAC others(169): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	334	0.0030	176	c.-48 others(187): Show c.-4843_-4842insGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAG GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4820		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149177	G G	GCTCCTAC others(169): Show GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	176	c.-48 others(187): Show c.-4882_-4881insTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTG TGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4859		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149226	C C	CACCACAC others(169): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA19079.hp1 NA18995.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	176	c.-49 others(187): Show c.-4931_-4930insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTATGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4908		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149265	G G	GCTCACAC others(169): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	176	c.-49 others(187): Show c.-4970_-4969insTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTA GGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCG AGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4947		chr12	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(169): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT ATGTGTGTATATATATACACACATATATATGTATATATATGTGTGTATAT ATATACACACATATATGTATATATACACATATATACATATATGTATATAT ACACATATATACATATATGCATATGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0092 a0001c0002t0003g0092	1	94	0.0106	176	c.804 others(193): Show c.804+6897_804+6898insCACATATGCATATATGTATATATGTGTA TATATACATATATGTATATATGTGTATATATACATATATGTGTGTATATA TATACACACATATATATACATATATATGTGTGTATATATATACACACATA TATATACATATATATGTGTGTATATATATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(169): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT ATGTGTGTATATATATACACACATATATATGTATATATATGTGTGTATAT ATATACACACATATATGTATATATACACATATATACATATATGTATATAT ACACATATATACATATATGTATATGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02896.hp1 others(1): Show HG02280.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0016 a0001c0002t0014 a0001c0002t0025 others(1): Show a0001c0001t0016 a0001c0002t0014 a0001c0002t0025 a0001c0005t0006	a0001c0001t0016g0005 a0001c0002t0014g0020 a0001c0002t0025g0021 others(1): Show a0001c0001t0016g0005 a0001c0002t0014g0020 a0001c0002t0025g0021 a0001c0005t0006g0019	4	94	0.0426	176	c.804 others(193): Show c.804+6897_804+6898insCACATATACATATATGTATATATGTGTA TATATACATATATGTATATATGTGTATATATACATATATGTGTGTATATA TATACACACATATATATACATATATATGTGTGTATATATATACACACATA TATATACATATATATGTGTGTATATATATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CCACACAC others(169): Show CCACACACACACACACCCCCCCCACACACACACACACCCCCCCCACACAC ACACACCCCCCCCACACACACACACCCCCCCCACACACACACACCCCCCC CCACACACACACCCCCACACACACACACACCCCCCCCCCACACACACACA CACATCCCCCCCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0035 a0001c0013t0002g0035	1	88	0.0114	176	c.85+ others(193): Show c.85+80936_85+80937insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGTGGGGGGGGGGTGTGTGTGTGTGTGGGGGTGTGTGTGTGGG GGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTG TGTGTGGGGGGGGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2713134	C C	CCACCCAT others(169): Show CCACCCATCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCG ATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACC TCCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCATCACCTCCTCC ACCCTTCATCCCATCCATCACTGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0061 a0001c0001t0049g0061	1	412	0.0024	176	c.40 others(187): Show c.4075_*4076insTAGACAGTGATGGATGGGATGAAGGGTGGAGGAG GTGATGGGTGTAGGAAGTGAGAGATGGCATTAAGGGTGGAGGAGGTGGTG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATCGGTGTA GACAGTGACGGATGGGATGAAGGGTGGAGGAGGTGATGGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1432		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713271	C C	CATCACCT others(169): Show CATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCAC CTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCACCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCT TCATCCCATCCGTCACTGTCTACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	176	c.39 others(187): Show c.3938_*3939insCGGTGTAGACAGTGACGGATGGGATGAAGGGTGG AGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGG TGGTGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAGGAGGTGATGG GTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGAT	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1295		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713273	C C	CCACCTCC others(169): Show CCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTCCACCCATCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTCCATCCCATCCCTCACTTCCTCCACCCATCACCTCCTCCACCCTCC ATCCCATCCCTCACTTCCTCCACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	412	0.0024	176	c.39 others(187): Show c.3936_*3937insACGGGTGGAGGAAGTGAGGGATGGGATGGAGGGT GGAGGAGGTGATGGGTGGAGGAAGTGAGGGATGGGATGGAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGAT GGGTGGAGGAAGTGAGAGATGGCATTAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1293		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713493	T T	TCACCTCC others(169): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCC CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATTCCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	412	0.0024	176	c.37 others(187): Show c.3716_*3717insGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGT GCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1073		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(169): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCA CCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	412	0.0049	176	c.36 others(187): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713581	C C	CCACCTCC others(169): Show CCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG04228.hp1 HG02683.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0052 a0001c0001t0003 a0001c0001t0052	a0001c0001t0003g0003 a0001c0001t0052g0091 a0001c0001t0003g0003 a0001c0001t0052g0091	2	412	0.0049	176	c.36 others(187): Show c.3628_*3629insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGA GGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		985		chr19	TogoVar

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