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
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(400): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0075 a0075	a0075c0112 a0075c0112	a0075c0112t0002 a0075c0112t0002	a0075c0112t0002g0184 a0075c0112t0002g0184	1	194	0.0052	407	c.300 others(424): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(400): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0001 a0002c0063t0001	a0002c0063t0001g0287 a0002c0063t0001g0287	1	194	0.0052	407	c.300 others(424): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(400): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAAAGG CGAAGGATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGG AAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAG GATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAAGCTC TGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTG AAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAAAGG CGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGA AGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGG ATCTGAGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	64	0.0156	407	c.-21 others(424): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGA GCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCCT TCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTTC CCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCC GCTCAGATCCTTCCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCCCCCT CATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(400): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0035 a0001c0008t0035	a0001c0008t0035g0148 a0001c0008t0035g0148	1	240	0.0042	407	c.-22 others(424): Show c.-22-1977_-22-1976insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGTCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894145	T T	TTACACAC others(400): Show TTACACACATGCACGCACACATGCACACACACATGCATACATATACACAT GCACACAATGTACACACATGCACGCACACATGCACACACACATGCATACA TATACACATGCACACAATGTACACACATGCACGCACACATGCACACACAC ATGCATACATATACACGCACACAATGTACACACATGCACGCACACATGCA CACACACATGCATACATATACACATGCACACAATGTACACGCACGCACAC ATGCACACACACATGCATACATATACACATGCACACAATGTACACACATG CACGCACACATGCACACACACATGCATACATATACACATGCACACAATGT ACACACATGCACGCACACATGCACACACACATGCATACATATACACATGC ACACAATG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	281	0.0036	407	c.380 others(424): Show c.380-1661_380-1660insCATTGTGTGCATGTGTATATGTATGCAT GTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATA TGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGC ATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCGTGTACATTG TGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTG TGTACATTGTGTGCGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGT GCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCA TGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGT GTGTGTGCATGTGTGCGTGCATGTGTGTA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136802876	G G	GGGGGCCC others(400): Show GGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19091.hp2 HG01257.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0168 a0001c0001t0001g0001 a0001c0001t0001g0168	2	377	0.0053	407	c.666 others(422): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802942	C C	CTGGGGGC others(400): Show CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19066.hp2 NA18945.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0182 a0001c0001t0001g0138 a0001c0001t0001g0182	2	395	0.0051	407	c.666 others(422): Show c.666+156_666+157insTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13			chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGG others(400): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	309	0.0032	407	c.666 others(422): Show c.666+495_666+496insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278720	C C	CCCCTCCC others(400): Show CCCCTCCCCCCTCCCCTCCCTCTCCCCTCCCCTCCCCCTCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	252	0.0040	407	c.-45 others(428): Show c.-455+14556_-455+14557insCTCCCCCCTCCCCTCCCTCTCCCC TCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(400): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCTCTCCCTTCCCCTCCTCTCCCCTCCCC TCCCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0234 a0001c0001t0009g0234	1	12	0.0833	407	c.-45 others(428): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	AGAATATA others(400): Show AGAATATATATATATAGAATATATATATAGAATATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	273	0.0037	407	c.487 others(424): Show c.487+1101_487+1102insGAATATATATATATAGAATATATATATA GAATATATATATATAGAATATATATATAGAATATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(400): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	273	0.0037	407	c.487 others(424): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(400): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC CCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTC CCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTC TCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	68	0.0147	407	c.-42 others(418): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(400): Show TATAAATATATATGTAAATATATAAATATATATAAATAAATATATATAAA TATATATAAATATAAATATATATATAAATATGTAATTCTAAATATATATT GTAAATATATATAAATATAAATATATTTATAAATATAATATATTATATAT TTATAAATATATAAATATATATATATTATAAATATATAAATATATATATA TTTATAAATATATAAATATATATAAAAATATATATAAATATATAAGAAAT ATAAATATATATAAATATATAAATTATGTAAATATATATAAATATATATA TAAATATATATATAAATATATATATAATATATATATAAATATATATATAT AAATATATATAAATATATAACTATATAAATAAATATATATAAATATATAA ATATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	250	0.0040	407	c.181 others(426): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTTATATAGTTATATATTTATATATATTTATATATATATATTTATAT ATATATTATATATATATTTATATATATATTTATATATATATTTATATATA TTTACATAATTTATATATTTATATATATTTATATTTCTTATATATTTATA TATATTTTTATATATATTTATATATTTATAAATATATATATATTTATATA TTTATAATATATATATATTTATATATTTATAAATATATAATATATTATAT TTATAAATATATTTATATTTATATATATTTACAATATATATTTAGAATTA CATATTTATATATATATTTATATTTATATATATTTATATATATTTATTTA TATATATTTATATATTTACATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CPNE4_chr3_131528569_132040014	131978464	A A	ATTTATAT others(400): Show ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATTTATATATATTTATATATATATTTATATATATT TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	78	0.0128	407	c.-2+ others(424): Show c.-2+56102_-2+56103insAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(400): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAA GGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18966.hp1 NA18951.hp2 NA18966.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0005 a0002c0004 a0004c0005	a0002c0004t0029 a0004c0005t0039 a0002c0004t0029 a0004c0005t0039	a0002c0004t0029g0114 a0004c0005t0039g0208 a0002c0004t0029g0114 a0004c0005t0039g0208	2	198	0.0101	407	c.923 others(426): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCTCCC CCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCC CTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCT CCCTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(400): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGG GGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	355	0.0028	407	c.-43 others(418): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(400): Show TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	307	0.0033	407	c.-42 others(418): Show c.-4255_-4254insGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(400): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAAAAATAAAA ATAAAAAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0178 a0001c0003t0045g0178	1	149	0.0067	407	c.216 others(426): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAATTAAAAAAAAAAATAAAAATAAAAATAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIP2C_chr10_269201_694668	516381	G G	GGGGAGGG others(400): Show GGGGAGGGGAAGGGGGGGAAGGGGGGGAAGGGAGGGGAAAGGGGGGGAAG GGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGG GGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAG GGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAGGGGAAAGGGGG GAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGA AAGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAGGGGAAAGGGGGGAAG GGAGGGGAAAGGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAGGGGAAA GGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGG AGGGGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0009 a0001c0019t0006g0009	1	83	0.0120	407	c.86- others(424): Show c.86-29852_86-29851insTTTCCCCTCCCTTCCCCCCTTTCCCCTC CCTTCCCCCCTTTCCCCTCCCTTCCCCCCCTTTCCCCTCCCTTCCCCCCC TTTCCCCTCCCTTCCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCC TTCCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTT CCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCC CCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCCTTTCCC CTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCC CTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCCTTTCCCCTCC CTTCCCCCCCTTCCCCCCCTTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556194	C C	CCACCCAC others(400): Show CCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCC TCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCC CAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACC CACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTC CCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCA GGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCCA CCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCC ACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCC GAGGACAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0032 a0001c0014t0001g0032	1	85	0.0118	407	c.86- others(424): Show c.86-69665_86-69664insCTGTCCTCGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCT GTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCT GGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGG GGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGG CTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522827	G G	GCCCAGCC others(400): Show GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCT CAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCGAGAGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0294 a0001c0005t0004g0294	1	324	0.0031	407	c.236 others(426): Show c.2363-1095_2363-1094insGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAA GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCTCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCGAGAGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC13_chr3_132412502_132544032	132470622	C C	CCCCCCCA others(400): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCTGGGCCGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp2 HG01361.hp2 others(24): Show HG00323.hp2 HG01168.hp2 HG01361.hp2 HG01433.hp2 HG01975.hp2 HG01981.hp1 HG02132.hp1 HG02683.hp2 HG03490.hp2 HG03492.hp1 HG03834.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18955.hp2 NA18962.hp2 NA18967.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19085.hp1 NA19090.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0005c0008 a0006c0007 a0001c0003 a0005c0008 a0006c0007	a0001c0003t0003 a0005c0008t0003 a0006c0007t0003 a0001c0003t0003 a0005c0008t0003 a0006c0007t0003	a0001c0003t0003g0011 a0001c0003t0003g0018 a0001c0003t0003g0019 others(23): Show a0001c0003t0003g0011 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0226 a0001c0003t0003g0228 a0001c0003t0003g0231 a0001c0003t0003g0238 a0001c0003t0003g0243 a0001c0003t0003g0245 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0280 a0005c0008t0003g0247 a0005c0008t0003g0248 a0006c0007t0003g0239 a0006c0007t0003g0240 a0006c0007t0003g0242	27	306	0.0882	407	c.220 others(426): Show c.2209-2518_2209-2517insCACCTCCCTCCCGGACGGGGTGGCTG GCTGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACACCCCC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC25_chr9_111626334_111659345	111641675	G G	GGGGGGGG others(400): Show GGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	291	0.0034	407	c.337 others(424): Show c.337-5424_337-5423insTCAGCCCCCCTGCCCGGCCAGCCACCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGG	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYNC2I1_chr7_158851558_158951189	158916761	C C	CAGTAAGG others(400): Show CAGTAAGGATGATTGTGAAACCTTGACACGGTGATTGACATTAAGGATGA TTGTGAAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGAC ACGCTGGTTGACATTAAGGATGATTGTGAAACGACACGCTGGTTGACATT AAGGATGATTGTGAAACGTCAACACGCTGGTTGACATTAAGGATGATTGT GAAACGTCAACACGGTGGTTGACATTAAGGATGATTGTGAAACGTTGCTG GTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAG GATGATTGTGAAACGTCAACACGCTGGTTGACATTAAGGATGATTGTGAA ACGTTGACACGCTGGCTGACATTAAGGATGATTGTGAAACATCAACACGC TGGTTGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	269	0.0037	407	c.179 others(426): Show c.1792-1978_1792-1977insGTAAGGATGATTGTGAAACCTTGACA CGGTGATTGACATTAAGGATGATTGTGAAACGACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTG AAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCT GGTTGACATTAAGGATGATTGTGAAACGTCAACACGGTGGTTGACATTAA GGATGATTGTGAAACGTTGCTGGTTGACATTAAGGATGATTGTGAAACGT CGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCTGGT TGACATTAAGGATGATTGTGAAACGTTGACACGCTGGCTGACATTAAGGA TGATTGTGAAACATCAACACGCTGGTTGAGA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(400): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	129	0.0078	407	c.259 others(426): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(400): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	129	0.0078	407	c.259 others(426): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EPS8L1_chr19_55070869_55092923	55078251	T T	TGCTGGGG others(400): Show TGCTGGGGGCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCA GAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGA CTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCT GGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACT CCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGG GAAGAGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	294	0.0034	407	c.58+ others(420): Show c.58+131_58+132insCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACT CCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGG GGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCC TAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGA AGAGGTGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTG GGTCAGAGGGAAGAGGGGCTGGGGG	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1329444	T T	TGGGGACA others(400): Show TGGGGACATGAGCCACTGCACCTGCCCTTAATACTTTTGAAAACACGTGT ATGGTCATGTTATTTCCTCTTAAAATTTTCCAAAGGCTTCTTATCCTTTC AGGATAAAATGCAGACTCCGAAGCCTGACGTTGAAGGTTCCCCATAATCT GACTTCTCCTGTTGTACGCCACGCCCATGTGACCTCACGTTTCTCCTTTC TCTCTCTTTCGCTTCCCCCTCTTGCCTTTTTCCTTTCTCCCCCCTCCCCT TTTCTCCCTCAGTTAAGATGCTACTTCTTCCATGACAAATGATGCTATAG GAGGAAGTCATTTCTTTCTCTGCGTTTGCTTTGAACCTCTCCTATTGCTT TGTCTTTTTTTTCTTACCATGGATTAAAATATCTGTGTACATGTTTTCTG TTGAATTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0042 a0002c0002t0035g0042	1	160	0.0063	407	c.278 others(428): Show c.2780+39435_2780+39436insGACATGAGCCACTGCACCTGCCCT TAATACTTTTGAAAACACGTGTATGGTCATGTTATTTCCTCTTAAAATTT TCCAAAGGCTTCTTATCCTTTCAGGATAAAATGCAGACTCCGAAGCCTGA CGTTGAAGGTTCCCCATAATCTGACTTCTCCTGTTGTACGCCACGCCCAT GTGACCTCACGTTTCTCCTTTCTCTCTCTTTCGCTTCCCCCTCTTGCCTT TTTCCTTTCTCCCCCCTCCCCTTTTCTCCCTCAGTTAAGATGCTACTTCT TCCATGACAAATGATGCTATAGGAGGAAGTCATTTCTTTCTCTGCGTTTG CTTTGAACCTCTCCTATTGCTTTGTCTTTTTTTTCTTACCATGGATTAAA ATATCTGTGTACATGTTTTCTGTTGAATTAGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
F13A1_chr6_6139084_6325662	6261984	G G	GTGACCCT others(400): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	270	0.0037	407	c.571 others(424): Show c.571+4573_571+4574insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(400): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02630.hp2 others(3): Show HG01243.hp2 HG02622.hp2 HG02630.hp2 HG03130.hp1 HG03486.hp1 NA19030.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0006 a0004c0004 others(3): Show a0001c0001 a0001c0006 a0004c0004 a0004c0016 a0005c0005 a0006c0014	a0001c0001t0001 a0001c0006t0002 a0004c0004t0002 others(3): Show a0001c0001t0001 a0001c0006t0002 a0004c0004t0002 a0004c0016t0006 a0005c0005t0002 a0006c0014t0002	a0001c0001t0001g0008 a0001c0006t0002g0005 a0004c0004t0002g0077 others(3): Show a0001c0001t0001g0008 a0001c0006t0002g0005 a0004c0004t0002g0077 a0004c0016t0006g0075 a0005c0005t0002g0046 a0006c0014t0002g0070	6	247	0.0243	407	c.571 others(424): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCGCAC others(400): Show GTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGGTCCGCACTGCCC CACACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCG GCTCACCTGCGGTCCACACTGCCCCGCACCCCTCCCGGCTCACCTGCGGT CCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGC TCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCC CCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCCCACTGCCCCGCA CCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCGGCTC ACCTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	131	0.0076	407	c.145 others(424): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGC AGGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGACCGCAGGTGAGCCGGGA GGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCA GTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAG GTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGG GGTGCGGGGCAGTGTGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGT GCGGAGCGCAGGTGAGCTGGGAGGGGTGTGGGGCAGTGCGGACCGCAGGT GAGCGGGGAGGGGTGCGGGGCAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GLT6D1_chr9_135618648_135644540	135619921	A A	ATCTCCCC others(400): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCCGTCTCCCCTGT CTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	425	0.0024	407	c.41 others(418): Show c.4175_*4176insCGGGGGAGACAGGGGAGACGGGGGGAGTAGAGGG GGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGACGGGG GAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGGAGAA GGGGGAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGG AGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGTAGGGGGAGATGGGG GAGACTGGGCAGACAGGGGAGACGGGGGAGAAGGGGGAGTAGGGGGAGAA GGGGGAGATAGGGGAGAAGAGGGAGATGGGGGAGTAGGGGGAGTAGGGGA AGAAGGGGGAGAAGGGGATACTGGGCAGATGGGGGAGAAGGGGGAGAAGG GGAGTAGGGGGAGAAGGGGGAGA	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3726		chr9	TogoVar
GNG4_chr1_235542685_235654784	235587632	G G	GGATGTGT others(400): Show GGATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGG GGTAGGGGGTGAGAGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTG AGTGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGG GGGGTGAGCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTG TGGGGTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACT GTGGGAGAGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTAGGGT GGGGGTGTGAGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAATGTGTGGGG TGGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGT GTGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	266	0.0038	407	c.-10 others(424): Show c.-10-3785_-10-3784insACACCCACACCACACACCCTGACACACA CCCACAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCC CACCCCACACCCTCCCACACTCACACCCCCACCCTACACCCTCCCACACT CACATTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCC CACACCCTCCCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACC CCCACACCCTCCCACACTCATGCTCACCCCCCACCCCACACCCTCCCACA CACTCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCCCAC ACCCTCCCACACTCACTCTCACCCCCTACCCCACACCCAGACACACACCC ACACACACCCATACTCTCACACACACATC	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(400): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCCTCCT TCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCC TTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCC CTCCCCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	102	0.0098	407	c.972 others(422): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCC TCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCCTTCCCCACCTTCCCCCT CCCCCTTCCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR157_chr1_9095305_9134102	9116190	A A	AATATAAT others(400): Show AATATAATTATATATATTATATATATAATATAATTATATATATTATATAT ATAATATAATTATATATATTATATATATAATATAATTATATATATTATAT ATATAATATAATTATATATATTATATATATAATATAATTATATATATTAT ATATATAATATAATTATATATATTATATATATAATATAATTATATATATT TATATTATATATATTATATATAATATAATTATATATATTTATATTATATA TATATTATATTATATATAATTATATATAATTATATATATATTATATTATA TATAATTATATATAATTATATTATATATATTATATGTAATATAATTATAT ATATTTATATTATATATTATATATAATATAATTATATATATAATTATAAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0069 a0001c0001t0020g0069	1	396	0.0025	407	c.384 others(424): Show c.384-4702_384-4701insATATATATATTATAATTATATATATAAT TATATTATATATAATATATAATATAAATATATATAATTATATTACATATA ATATATATAATATAATTATATATAATTATATATAATATAATATATATATA ATTATATATAATTATATATAATATAATATATATATAATATAAATATATAT AATTATATTATATATAATATATATAATATAAATATATATAATTATATTAT ATATATAATATATATAATTATATTATATATATAATATATATAATTATATT ATATATATAATATATATAATTATATTATATATATAATATATATAATTATA TTATATATATAATATATATAATTATATTATATATATAATATATATAATTA TATTATATATATAATATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322899	A A	AATATATA others(400): Show AATATATACGGAATATATATACGGAATGTATATACGGAATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATACGGAATATATAT ATATGGAATGTATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATATGGAACATATATA TACGGAATATATATATATGGAACATATATATACGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATATATATGGAACATATATATGGAAT ATATATATATGGAACATATATATGGAATATATATATATGGAATATATATA TATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0124 a0003c0003t0004g0124	1	317	0.0032	407	c.-21 others(418): Show c.-2157_-2156insATATATACGGAATATATATACGGAATGTATATAC GGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATACGGAATATATATATATGGAATGTATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAACATATATATACGGAATATATATATATGGAACATATATATACGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATATATATGGA ACATATATATGGAATATATATATATGGAACATATATATGGAATATATATA TATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2070		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(400): Show TAAGAAAAGAAAGAAAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0124 a0002c0003t0001g0124	1	233	0.0043	407	c.127 others(426): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTCTTTTCTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(400): Show TATACATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATATATAAATATAT AAATATAAATATATATTTATAGATATATAGATTTTACGTTTAAAATATAT ATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATATTTAA AAATATATTTTATATATTTTATACATAAAATATAATATATAAAATATATA AATCATATAAAATTTATATTTTATGTATAAATATAAATGAATATAAAAAT ATATTATATGTTATATATTATATATTATTATGTTATATATTATATATTAT TATATTATATATATTATAATATGTATTATATTATATATTATATAATATAA AATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	9	0.1111	407	c.-51 others(418): Show c.-5160_-5159insATACATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATATATAAATATATAAATATAAATATATATTTATAGATATATAGATTTT ACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATTTAT AGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATATAA TATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATATA AATGAATATAAAAATATATTATATGTTATATATTATATATTATTATGTTA TATATTATATATTATTATATTATATATATTATAATATGTATTATATTATA TATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(400): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATAATATATATTATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATATAATA TATATTATATATATAATTCTATATATATAATATATATTATATATATAATT CTATATATATAATATATATTATATATATAATTCATATATATAATATATAT TATATATATAATTCTATATATATAATATATATTATATATATAATTATATA TATAATATATATTATATATATAATTCTATATATATAATATATATTATATA TATAATTCTATATATAATATATATTATATATATAATTCTATATATATAAT ATATATTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	4	0.2500	407	c.62- others(426): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATATAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATG AATTATATATATAATATATATTATATATATAGAATTATATATATAATATA TATTATATATATAGAATTATATATATAATATATATTATATATATAGAATT ATATATATAATATATATTATATATATAGAATTATATATAATATATATTAT ATATAGAATTATATATATAATATATATTATATATATAGAATTATATATAT AATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(400): Show CATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA TCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATC ACCATCACCACCATCACCATCACCACCACCATCACATCAACACCATGACC ACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCAC CACCACCATCACTATCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCAC CATTACCACCACCATCACCACCACCATCACCATCACCATCACCACCACCA CCACCATT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02258.hp2 HG03209.hp1 HG02148.hp1 HG02258.hp2 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0203 a0002c0001t0001g0205 a0002c0001t0001g0243 a0002c0001t0001g0203 a0002c0001t0001g0205 a0002c0001t0001g0243	3	235	0.0128	407	c.691 others(422): Show c.691-367_691-366insAATGGTGGTGGTGGTGGTGATGGTGATGGT GATGGTGGTGGTGATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGG TGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGGTGATAGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTTTTGGTGGTGGTGATGGTGGTCATGGTGTTGATGTGATGG TGGTGGTGATGGTGATGGTGGTGATGGTGATGGTAATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(400): Show CATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA TCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATC ACCATCACCACCATCACCATCACCACCACCATCACATCAACACCATGACC ACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCAC CACCACCATCACTATCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCAC CATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCA CCACCATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0028 a0002c0001t0028	a0002c0001t0028g0202 a0002c0001t0028g0202	1	233	0.0043	407	c.691 others(422): Show c.691-367_691-366insAATGGTGGTGGTGGTGGTGATGGTGATGGT GATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGG TGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGGTGATAGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTTTTGGTGGTGGTGATGGTGGTCATGGTGTTGATGTGATGG TGGTGGTGATGGTGATGGTGGTGATGGTGATGGTAATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF1A_chr2_240708767_240825219	240786790	G G	GAGGGTAG others(400): Show GAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTAGGGGCCAGC ATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGT GAGAGGGTAGGGGCCAGCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCA CCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGA GTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGC CACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCT GAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGG GCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCAGCATCAGGGCCC CTGAGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02280.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0053 a0001c0005 a0001c0053	a0001c0005t0005 a0001c0053t0007 a0001c0005t0005 a0001c0053t0007	a0001c0005t0005g0033 a0001c0053t0007g0036 a0001c0005t0005g0033 a0001c0053t0007g0036	2	314	0.0064	407	c.430 others(422): Show c.430-278_430-277insTCACTCAGGGGCCCTGATGCTGGCCCCTAC CCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGT CCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCT ACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGG GTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCC CTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAG GGGTCCTGATGCTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGC CCCTACCCTCTCACTCAGGGGTCCTGATGCTGGCCCCTACCCCCTCACTC AGGGGTCCTGATGGTGGCCCCTACCCT	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KNDC1_chr10_133155219_133231412	133155780	A A	ATTGACGT others(400): Show ATTGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGATGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTC AACTGTGGAGTATTGACATCATTGGAAAGAGAACCTCAACTGTGGGGTAT TGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGTATTGACGTCATTGGA AAGAGAACCTCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAA CTGTGGAGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGTATTG ACGTCGTTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAA GAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAACT GTGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0221 a0001c0003t0001g0221	1	330	0.0030	407	c.-46 others(418): Show c.-4688_-4687insTTGACGTCATTGGAAAGAGAACCTCAACTGTGGA GTATTGATGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCAT TGGAAAGAGAACCTCAACTGTGGAGTATTGACATCATTGGAAAGAGAACC TCAACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGT ATTGACGTCATTGGAAAGAGAACCTCAACTGTGGGGTATTGACGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACGTCGTTGGAAAGAGAACCTC CACTGTGGAGTATTGACGTCGTTGGAAAGAGAACCTCAACTGTGGAGTAT TGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGA AAGAGAACCTCAACTGTGGGGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4438		chr10	TogoVar
LARS1_chr5_146108034_146187650	146174615	A A	ATATCCAT others(400): Show ATATCCATATATATATATCCATATATATATATCCATATATATATATCCAT ATATATATATCCATATATATATATATCCATATATATATATCCATATATAT ATATATCCATATATATATATCCATATATATATATATCCATATATATATCC ATATATATATATATCCATATATATATCCATATATATATATATCCATATAT ATATATCCATATATATATATATCCATATATATATCCATATATATATATAT CCATATATATATATCCATATATATATATATCCATATATATATATCCATAT ATATATATATCCATATATATATATCCATATATATATATATCCATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT ATCCATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	206	0.0049	407	c.126 others(424): Show c.126-1842_126-1841insATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATA	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LOC102723971_chr9_135609183_135624893	135619921	A A	ATCTCCCC others(400): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCCGTCTCCCCTGT CTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	407	c.96 others(416): Show c.969_*970insTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTT CTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCC CTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACT CCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCC TACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCT CTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCC CCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCC TTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CCGTCTCCCCTGTCTCCCCCG	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		29		chr9	TogoVar
LRRC23_chr12_6899822_6919229	6909156	T T	TAATTATA others(400): Show TAATTATATATATTATATATTATATATAATATATAATATATAATATATAA TATATAATATATATTTATTAATAATATATATAATATATATATTTATTTAT ATATATATTATTATATATATAAATATATATATTTATTAATATATATATAA ATATATATATATTTATTAATAATATATATAATATATATATATAATATATA ATATATAATATATAATATATATTTATATATAATATATAATATATAATATA TAATTATATATTATATATAATTATATATTATATATAATTATATAATATAT AATATATATATTATTATATATATAATAATATATATATAATATATAATTAT ACATAATATATAATATATATTATAATATATAATATATATTATATATTAAT ATATAATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	311	0.0032	407	c.622 others(422): Show c.622-734_622-733insAATTATATATATTATATATTATATATAATA TATAATATATAATATATAATATATAATATATATTTATTAATAATATATAT AATATATATATTTATTTATATATATATTATTATATATATAAATATATATA TTTATTAATATATATATAAATATATATATATTTATTAATAATATATATAA TATATATATATAATATATAATATATAATATATAATATATATTTATATATA ATATATAATATATAATATATAATTATATATTATATATAATTATATATTAT ATATAATTATATAATATATAATATATATATTATTATATATATAATAATAT ATATATAATATATAATTATACATAATATATAATATATATTATAATATATA ATATATATTATATATTAATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LUC7L_chr16_183990_234449	186459	G G	GGAGGAAC others(400): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	310	0.0032	407	c.27 others(418): Show c.2738_*2739insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2530		chr16	TogoVar
MAEA_chr4_1284891_1345137	1316995	C C	CCAGGCCC others(400): Show CCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCC GGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCC AGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAG CCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGA CTCACCCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	384	0.0026	407	c.456 others(424): Show c.456+1406_456+1407insTGGCCCCCACACTCCAGACTCACCCCCA GGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
METTL25B_chr1_156723469_156741960	156735542	A A	AAAAAAAA others(400): Show AAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGC TACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAG CTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCT TTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGA GATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAAT ACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTA GTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGAC GCCATCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	384	0.0026	407	c.112 others(424): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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