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
BOK_chr2_241553745_241579131	241570448	G G	GTCTGAGC others(605): Show GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTG AGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAG GTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTG GGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGGTGG GTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACA GACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGG GTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAGTGGCGGA TGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGG GGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGC GGATGGGTGAGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0183 a0001c0001t0007g0183	1	399	0.0025	612	c.513 others(627): Show c.513+172_513+173insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGG ATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGT GGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGG CGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGA GGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCC TGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAG TGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGT GCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAG CGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGG GAGTGGCGGATGGGTGAGCCTCTGAGCGCCTG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BRF1_chr14_105204286_105306001	105232065	T T	TGTCCGCG others(605): Show TGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGT GGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACC ACTGTCCGCGTAGTCGCCCAGCTGGCGGCGGGGGACAGCCTGACAGCCCC GTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACA CCACGGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCC CCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCA CACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAG CCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGC CACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGAC AGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAG GCCACACCACGGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTG GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	70	0.0143	612	c.695 others(629): Show c.695-3153_695-3152insCGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGC CCCCAGCTGGGCGACTACGCGGACCGTGGTGTGGCCTCTCTCTCCTGAGA TGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCC CCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCT GAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTC CCCCGCCCCCAGCTGGGCGACTACGCGGACCGTGGTGTGGCCTCTCTCTC CTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTG TCCCCCGCCGCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTC TCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGC TGTCCCCCGCCCCCAGCTGGGCGACTACGCGGAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237981	G G	GTCCGCGT others(605): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	68	0.0147	612	c.694 others(629): Show c.694+3283_694+3284insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCC TGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGT CCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCT CCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCT GTCCCCCGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCT CTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGG CTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238020	G G	GCAGCCCC others(605): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCA GGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGG GGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCT CAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCG GGGGACAGCCTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	59	0.0169	612	c.694 others(629): Show c.694+3244_694+3245insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCC AGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240883	T T	CGTGGCAC others(605): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGACAGCCCT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	69	0.0145	612	c.694 others(627): Show c.694+382_694+383insGGGCTGTCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCC AGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGC CCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGA TGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGGTGCCACG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(605): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03017.hp1 HG03942.hp2 HG01346.hp2 HG03017.hp1 HG03942.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0007 a0005c0009t0008 a0005c0009t0007 a0005c0009t0008	a0005c0009t0007g0105 a0005c0009t0007g0154 a0005c0009t0008g0251 a0005c0009t0007g0105 a0005c0009t0007g0154 a0005c0009t0008g0251	3	105	0.0286	612	c.300 others(629): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(605): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	103	0.0097	612	c.300 others(629): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(605): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18906.hp2 HG02257.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0042 a0001c0003t0006 a0001c0003t0042	a0001c0003t0006g0028 a0001c0003t0042g0109 a0001c0003t0006g0028 a0001c0003t0042g0109	2	135	0.0148	612	c.238 others(631): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(605): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAG GGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGAAGAAG GGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGT GGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGT GCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGT GGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp2 NA19043.hp2 HG02258.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0167 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0167	3	6	0.5000	612	c.712 others(629): Show c.712-2416_712-2415insCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCTTCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAACCCCACCCGCACCC TTCCCCCACCCTACCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCA CCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACC CCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCA GCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGA GTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136802807	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCAGGGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	375	0.0027	612	c.666 others(625): Show c.666+88_666+89insCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCAGGGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802807	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	375	0.0027	612	c.666 others(625): Show c.666+88_666+89insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	243	0.0041	612	c.666 others(627): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802952	C C	CCCAGGGC others(605): Show CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	350	0.0029	612	c.666 others(627): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803214	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0066 a0001c0009t0002g0066	1	107	0.0093	612	c.666 others(627): Show c.666+495_666+496insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CD5_chr11_61097489_61132852	61099971	A A	ATCACATT others(605): Show ATCACATTCACACACATCAACATGGAGATCACACACACACATCAACATGG AGATCACACACACACGACATGGAGATCACACACACACAACATGGAGATCA CACACACACAACATGGAGATCACACACACACATCAACATGGAGATCACAC ACACATCAACATGGAGATCACATTCGCACACATCAACATGGAGATCACAC ACACACATCAACATGGAGATTCACACATATCAACATGGAGATCACATTCA CACACATCAACATGGAGATCACATTCACACACATCAACATGGAGATCACA AACACACATCAACATGGAGATCAAATTCACACATCAACATGGAGATTACA CACACATCAACATGGAGATCACATTCACACACATCAACATGGAGATCACA TTCACAACACAAACATGGAGATCACACACACATATATCAAATGGGGATTA CACACACATCAACCCCAACATGGAGATCACACACACAGCACAGAGATCAC ACATGTCAACATGGAGATCATACACACACATCAACATGGAGATCACACAC ACATCAACATGGAGATCACACACACATCAACATGGAGATCACACACACTC GTCAACATGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	241	0.0041	612	c.-25 others(623): Show c.-2590_-2589insTCACATTCACACACATCAACATGGAGATCACACA CACACATCAACATGGAGATCACACACACACGACATGGAGATCACACACAC ACAACATGGAGATCACACACACACAACATGGAGATCACACACACACATCA ACATGGAGATCACACACACATCAACATGGAGATCACATTCGCACACATCA ACATGGAGATCACACACACACATCAACATGGAGATTCACACATATCAACA TGGAGATCACATTCACACACATCAACATGGAGATCACATTCACACACATC AACATGGAGATCACAAACACACATCAACATGGAGATCAAATTCACACATC AACATGGAGATTACACACACATCAACATGGAGATCACATTCACACACATC AACATGGAGATCACATTCACAACACAAACATGGAGATCACACACACATAT ATCAAATGGGGATTACACACACATCAACCCCAACATGGAGATCACACACA CAGCACAGAGATCACACATGTCAACATGGAGATCATACACACACATCAAC ATGGAGATCACACACACATCAACATGGAGATCACACACACATCAACATGG AGATCACACACACTCGTCAACATGGAGG	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		2517		chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(605): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	12	0.0833	612	c.-45 others(633): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(605): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	66	0.0152	612	c.-25 others(623): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCAATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CFAP46_chr10_132803392_132947570	132888639	G G	GCACCCCT others(605): Show GCACCCCTGCCACCTGCACCCCTGCCACCTTCACCCCTGCCGCCTTCACC CCTGCCACCTTCACCCCTGCCACCTGCACCCCTGCCACCTTCACCCCTGC CGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCTTC ACCCCTGCCACCTTCACCCCTGCCACCTGCACCCCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACC TGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCC CTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGC CTTCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACC CCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGC CGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCTTC ACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTG CCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCA CCCCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0012 a0012	a0012c0076 a0012c0076	a0012c0076t0001 a0012c0076t0001	a0012c0076t0001g0131 a0012c0076t0001g0131	1	191	0.0052	612	c.330 others(631): Show c.3305-2681_3305-2680insAAGGTGGCAGGGGTGAAGGTGGCAGG TGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGT GGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGG GTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGG CGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCA GGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGCGGCAGGGGTGA AGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGC AGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGTGGCAGGGGTG AAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGG CAGGGGTGCAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGG GTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGG TGGCAGGGGTGCAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGCGGCA GGGGTGAAGGTGGCAGGGGTGCAGGTGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCCC others(605): Show CTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCA TCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCC CATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCT CCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGC TCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCACCAGCG CTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGC GCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAG CGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCA GCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCC AGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGC CAGCGCTCCCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	243	0.0041	612	c.34 others(623): Show c.3495_*3496insTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCC TCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCC CTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACC CCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCAC CCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCA CCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGC ACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCG CACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCC GCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCC CGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGC CCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGG CCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGG GCCTGCACCCCTCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCCC others(605): Show CTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCA TCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCC CATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCT CCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGC TCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCACCAGCG CTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGC GCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAG CGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCA GCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCC AGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGC CAGCGCTCCCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	243	0.0041	612	c.34 others(623): Show c.3495_*3496insTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCC TCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCC CTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACC CCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCAC CCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCA CCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGC ACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCG CACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCC GCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCC TGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGC CCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGG CCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGG GCCTGCACCCCTCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CNTN4_chr3_2093866_3062959	2841849	G G	GTAGGATC others(605): Show GTAGGATCTAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTTTAA GAAAGCTTTTTTTTTTATTATTATTATACTCTAAGTTTTAGGGTACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCG CTGCACCCACCAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAT CCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCC CTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGA ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATG GTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTT TATGGCTGTATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCC AGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTG AATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGA TTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATG GTATTTCTAGTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp2 HG02486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0003 a0001c0024t0015 a0001c0001t0003 a0001c0024t0015	a0001c0001t0003g0008 a0001c0024t0015g0057 a0001c0001t0003g0008 a0001c0024t0015g0057	2	116	0.0172	612	c.454 others(631): Show c.454+22284_454+22285insTTTTTTTTTTTTTTTTTTTTTTTTTA TGTTTAAGAAAGCTTTTTTTTTTATTATTATTATACTCTAAGTTTTAGGG TACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGC TGGTGCGCTGCACCCACCAACGTGTCATCTAGCATTAGGTATATCTCCCA ATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGA TATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATG AGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAG AATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCAT CATTTTTTATGGCTGTATAGTATTCCATGGTGTATATGTGCCACATTTTC TTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGC TATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGC AGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGG TCAAATGGTATTTCTAGTTCTAGGATCTAATCTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978386	T T	TTATATAT others(605): Show TTATATATATTTATTTATATATTTATATATTTATATATATATATTTATAT ATTTATATATATTTATATATATATTTATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	29	0.0345	612	c.-2+ others(629): Show c.-2+56180_-2+56181insTAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TAAATATATATATAAATATATATAAATATATAAATATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TAAATATATATATAAATATATATAAATATATATAAATATATAAATATATA TATAAATATATATAAATATATATAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TATAAATATATAAATATATAAATAAATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CRLF2_chrX_1185490_1217649	1198275	C C	CGAAGGCA others(605): Show CGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGG CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	161	0.0062	612	c.646 others(627): Show c.646+286_646+287insTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG GAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCT GCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC CTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
DIP2C_chr10_269201_694668	556189	A A	AGCACCCA others(605): Show AGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCA CCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGG ATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAG CACCCACCCACCCCCTCCCACAGCCGGATCCGAGGACGGCACCCACCCAC CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCA CAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCC CAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC CACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGA TCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGC ACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	65	0.0154	612	c.86- others(629): Show c.86-69660_86-69659insCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGG GGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGT GCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGA TCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGG AGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGT CCTCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(605): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0113 a0002c0008t0001g0113	1	161	0.0062	612	c.323 others(631): Show c.3234+1477_3234+1478insTCACCACCACCTCCACCATCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCAT CACCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACC ATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTT CACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP10_chr2_114437641_115850780	115438828	T T	TGGCTAAG others(605): Show TGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTC ATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTG TGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTA AGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAA GCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAAT AGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGG TCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAG TGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGC TAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGG GAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGAT GGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCAC AGTGTGGAATAGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0009 a0002c0001t0014g0009	1	51	0.0196	612	c.272 others(631): Show c.272-60647_272-60646insCGGCTAAGATGGTCATGGAAGCACAG TGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGC TAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGG AAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGAT GGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCAC AGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTG GCTAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCAT GGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTG GAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAG ATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGC ACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAG CGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAG	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(605): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19074.hp2 HG00438.hp1 NA19074.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0111 a0003c0002t0001g0275 a0003c0002t0001g0111 a0003c0002t0001g0275	2	231	0.0087	612	c.190 others(631): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(605): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCC ACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	325	0.0031	612	c.103 others(627): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCG GGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ESYT2_chr7_158725997_158834509	158745155	A A	AGGCAAGC others(605): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCT ATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCT GGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATG ACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAG GGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTC ACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAG GCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGG CATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAG ACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCAC ACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTC CTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAA GCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAA TGAGACAGGGTCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18955.hp1 NA19005.hp1 NA18943.hp2 NA18955.hp1 NA19005.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0206 a0004c0005t0001g0210 a0004c0005t0001g0218 a0004c0005t0001g0206 a0004c0005t0001g0210 a0004c0005t0001g0218	3	341	0.0088	612	c.164 others(631): Show c.1645-1478_1645-1477insCGACCCTGTCTCATTAGATAGGTGAG TGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTG TCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCAT GCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGG CCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGG TGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGAC CCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGG TCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGC CGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCC CGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCAGGCCTAGGAGAC CTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAA CAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745254	C C	CGGCTGTT others(605): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACA GGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCA AGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTA ATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTG TTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAG GTCTCCTAGGCCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0186 a0003c0003t0004g0186	1	177	0.0056	612	c.164 others(631): Show c.1645-1577_1645-1576insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACC CTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGT CATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCC GGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGAT AGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCC GGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
EVC2_chr4_5557439_5713559	5706385	G G	GATAGATA others(605): Show GATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATA CATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGATA GATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATACATACACAGATAGATACATAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGA TACATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATAGATACATAGATAGATAGATACATACATACATACATACATAGA TAGATACATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0030 a0030	a0030c0066 a0030c0066	a0030c0066t0001 a0030c0066t0001	a0030c0066t0001g0249 a0030c0066t0001g0249	1	269	0.0037	612	c.228 others(629): Show c.228+1900_228+1901insGTATCTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATGTATGTATCTATCTATGTATGTATGT ATGTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTAT GTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCT ATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTAT CTATGTATCTATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTAT CTATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTATCT ATCTATGTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCTAT CTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATGTATCT ATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTAT CTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCT ATCTATGTATCTATGTATCTATCTAGCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(605): Show GATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGC TAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATACA TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATACATACACAGATAGATACATAGATACATAGATAGA TACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATACATACATACATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATA CATACATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0038 a0002c0005t0001g0038	1	311	0.0032	612	c.-50 others(623): Show c.-5044_-5043insATAGATAGATAGATAGATAGATACATAGATACAT ACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAG ATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGAT AGATAGATACATACATAGATAGATACATAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATAGATACATAGATAGATACATACATACATAGAT AGATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACAT AGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACAT ACATACATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAC ATACATACATACATACATACATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4863		chr4	TogoVar
EVC_chr4_5706201_5819305	5706385	G G	GATAGATA others(605): Show GATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATA CATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGATA GATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATACATACACAGATAGATACATAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGA TACATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATAGATACATAGATAGATAGATACATACATACATACATACATAGA TAGATACATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0060 a0060	a0060c0062 a0060c0062	a0060c0062t0001 a0060c0062t0001	a0060c0062t0001g0004 a0060c0062t0001g0004	1	339	0.0029	612	c.-49 others(623): Show c.-4996_-4995insATAGATAGCTAGATAGATACATAGATACATAGAT AGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAG ATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAG ATAGATAGATACATACATAGATAGATACATAGATAGATAGATACATAGAT AGATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAG ATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGAT AGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACATAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAC ATACATACATAGATAGATAGATAGATACATAGATAGATAGATACATACAT ACATACATACATAGATAGATACATACATAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4815		chr4	TogoVar
FBXL16_chr16_687500_710801	707711	A A	ACCCTCCA others(605): Show ACCCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCCCCACCTCTGTC ACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCAC CTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTCCACCTCTG TCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCC ACCTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTCCACCTC TGTCACCAGCTGTGACCCACCTGCCCTCCACCTCTGTCACCAGCTGTGAC CCACCTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACC TCTGTCACCAGCTGTGACCCACCTACCCCCCACCTCTGTCACCAGCTGTG ACCCACCTGCCCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCCCCA CCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTG TGACCCACCTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTC CACCTCTGTCACCAGCTGTGACCCACCTACCCCCCACCTCTGTCACCAGC TGTGACCCACCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	123	0.0081	612	c.-22 others(623): Show c.-2215_-2214insCCGGTGGGTCACAGCTGGTGACAGAGGTGGGGGG TAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCT GGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAG GGTAGGTGGGTCACAGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAG CTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGG GGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTCAC AGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAGAGGT GGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGCAGGTGGGTC ACAGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAGAG GTGGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGCAGGTGGG TCACAGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAG AGGTGGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGGGGGTAGGTG GGTCACAGCTGGTGACAGAGGTGGAGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1911		chr16	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(605): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATATACATATAAATATATATTTATATACATATAAATATATAATTATAT ACATATAAATATATATAATTATATACATATAAATATATATTTATATACAT ATAAATATATATTTATATACATATAAATATATATATTTATATACATATAA ATTTATATACATATAAATATATATATTTATATTTATATACATATAAATAT AAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0202 a0003c0003t0003g0217 a0003c0003t0003g0202 a0003c0003t0003g0217	2	29	0.0690	612	c.49 others(623): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATG TATATAAATATATATTTATATGTATATATATATAAATATATATATTTATA TATATATAAATATATATATATTTATATATATATAAATATATATATTTATA TATATATAAATATATATATTTATATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATTTATATGTATATATGTA TATGTATTATATGTATATAAATATATATATTTATATGTTTGTAAATATAT ATTTATATGTATGTAAATATATATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATTTATATGTATATAAATATATATATTTATAT GTATATAATATACATACATATATATTATATACATATATATTTATATGTAT ATAATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GALNS_chr16_88808734_88861947	88831223	C C	CGAGCACG others(605): Show CGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGA GCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAG CACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGG GGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGA GAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0044 a0001c0004t0001g0044	1	401	0.0025	612	c.100 others(629): Show c.1002+774_1002+775insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTGTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCT GTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCA CCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CTCCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGG CCTCACCGCTCTCCTCCCCACGCTCCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(605): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGC CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0218 a0001c0011t0002g0218	1	242	0.0041	612	c.100 others(629): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACG CACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGG CCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCC TCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCC GTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCA CGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTC GGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCT CCCCCCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132282204	A A	AGGAGGAA others(605): Show AGGAGGAATCAGCTCCACTACAGCAAGCCCAGGCCTGGGGGTCCCACATC CCACAGAGGAGGAATCAGCTCCACTGCAGCAAGGCCAGGCCTGGGGGTCC CCGATCCCACAGAGGAGGAATCAGCTCCACTGCAGCAAGCCCAGGCCTGG GGGTCCCTGATCCCACAGAGGAGGAATCAGCTCCACTACAGCAAGGCCAG GCCTGGGGGGTCCCCGATCCCACAGAGGAGGAATCAGCTCCACTACAGCA AGCCCAGGCCTGGGGGTCCCTGATCCCACAGAAGAGGAATCAGCTCCACT ACAGCAAGGCCAGGCCTGGGGGTCCCCGATCCCACAGAGGAGGAATCAGC TCCACTACAGCAAGCCCAGGCCTGGGGGTCCCCGATCCCACAGAGGAGGA ATCAGCTCCACTACAGCAAGGCCAGGCCTGGGATCCCCGATCCCACAGAG GAGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGGTCCCACATCCC ACAGAGGGGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGACCCAC ATCCCACAGAGGAGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGG TCCCACATCCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	181	0.0055	612	c.419 others(629): Show c.419+4045_419+4046insGTGGGATGTGGGACCCCCAGGCCTGGCC TTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGATGTGGGTCCCCAGGCC TGGCCTTGCTGTAGTGGAGCTGATTCCCCCTCTGTGGGATGTGGGACCCC CAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGATCGGG GATCCCAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGA TCGGGGACCCCCAGGCCTGGGCTTGCTGTAGTGGAGCTGATTCCTCCTCT GTGGGATCGGGGACCCCCAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCC TCTTCTGTGGGATCAGGGACCCCCAGGCCTGGGCTTGCTGTAGTGGAGCT GATTCCTCCTCTGTGGGATCGGGGACCCCCCAGGCCTGGCCTTGCTGTAG TGGAGCTGATTCCTCCTCTGTGGGATCAGGGACCCCCAGGCCTGGGCTTG CTGCAGTGGAGCTGATTCCTCCTCTGTGGGATCGGGGACCCCCAGGCCTG GCCTTGCTGCAGTGGAGCTGATTCCTCCTCTGTGGGATGTGGGACCCCCA GGCCTGGGCTTGCTGTAGTGGAGCTGATTCCTCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(605): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATTTATATATAAATATA TATAAATATACATTTATATATAAATATATATAAATATACATTTATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG00438.hp2 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0044 a0001c0003t0005g0174 a0001c0003t0005g0044 a0001c0003t0005g0174	2	170	0.0118	612	c.-97 others(629): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTATT CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(605): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATTTATATATAAATATA TATAAATATACATTTATATATAAATATATATAAATATACATTTATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0088 a0001c0003t0010g0088	1	169	0.0059	612	c.-97 others(629): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HELZ2_chr20_63553086_63579239	63571398	C C	CGGTGGGC others(605): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTG CCTACAGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTC TGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCT CTGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGC TCTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGG CTCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTG GCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCT GGCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTC TGGCTCTGCCTGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0105 a0001c0061t0105	a0001c0061t0105g0226 a0001c0061t0105g0226	1	218	0.0046	612	c.279 others(627): Show c.279-531_279-530insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGC TTGGAGTAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAG CTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGA GCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGG AGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAG GAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCA GGAGCTTGGAGCGGGGCAGGAGCCCACTGTAGGCAGAGCCAGAGGCTCCC AGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCC CAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTC CCAGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCT CCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(605): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCT GCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0033 a0033	a0033c0024 a0033c0024	a0033c0024t0004 a0033c0024t0004	a0033c0024t0004g0109 a0033c0024t0004g0109	1	254	0.0039	612	c.278 others(627): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCA CCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0056 a0056	a0056c0067 a0056c0067	a0056c0067t0003 a0056c0067t0003	a0056c0067t0003g0080 a0056c0067t0003g0080	1	177	0.0056	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02809.hp1 others(2): Show HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG03453.hp1	a0013 a0060 a0063 a0013 a0060 a0063	a0013c0113 a0013c0115 a0013c0133 others(2): Show a0013c0113 a0013c0115 a0013c0133 a0060c0042 a0063c0112	a0013c0113t0078 a0013c0115t0103 a0013c0133t0104 others(2): Show a0013c0113t0078 a0013c0115t0103 a0013c0133t0104 a0060c0042t0002 a0063c0112t0036	a0013c0113t0078g0214 a0013c0115t0103g0219 a0013c0133t0104g0225 others(2): Show a0013c0113t0078g0214 a0013c0115t0103g0219 a0013c0133t0104g0225 a0060c0042t0002g0185 a0063c0112t0036g0183	5	181	0.0276	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0075 a0075	a0075c0078 a0075c0078	a0075c0078t0081 a0075c0078t0081	a0075c0078t0081g0176 a0075c0078t0081g0176	1	177	0.0056	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01433.hp2 others(57): Show HG01175.hp2 HG01243.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG03017.hp2 HG03239.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0005 others(11): Show a0001 a0003 a0005 a0046 a0052 a0053 a0065 a0073 a0078 a0081 a0082 a0085 a0086 a0091	a0001c0001 a0001c0022 a0001c0063 others(17): Show a0001c0001 a0001c0022 a0001c0063 a0001c0083 a0001c0110 a0003c0013 a0005c0009 a0005c0050 a0005c0051 a0046c0111 a0052c0052 a0053c0058 a0065c0053 a0073c0069 a0078c0080 a0081c0057 a0082c0131 a0085c0041 a0086c0065 a0091c0066	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0083 a0001c0001t0085 a0001c0001t0089 a0001c0001t0102 a0001c0001t0109 a0001c0022t0038 a0001c0022t0095 a0001c0063t0009 a0001c0083t0093 a0001c0110t0009 a0003c0013t0019 a0005c0009t0001 a0005c0009t0002 a0005c0009t0003 a0005c0050t0004 a0005c0051t0002 a0046c0111t0008 a0052c0052t0080 a0053c0058t0002 a0065c0053t0002 a0073c0069t0010 a0078c0080t0012 a0081c0057t0002 a0082c0131t0038 a0085c0041t0004 a0086c0065t0072 a0091c0066t0003	a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0195 others(44): Show a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0212 a0001c0001t0003g0026 a0001c0001t0003g0056 a0001c0001t0003g0213 a0001c0001t0004g0003 a0001c0001t0008g0006 a0001c0001t0009g0005 a0001c0001t0009g0186 a0001c0001t0010g0058 a0001c0001t0012g0194 a0001c0001t0012g0216 a0001c0001t0014g0193 a0001c0001t0014g0211 a0001c0001t0014g0215 a0001c0001t0083g0210 a0001c0001t0085g0197 a0001c0001t0089g0198 a0001c0001t0102g0200 a0001c0001t0109g0249 a0001c0022t0038g0057 a0001c0022t0095g0202 a0001c0063t0009g0203 a0001c0083t0093g0209 a0001c0110t0009g0207 a0003c0013t0019g0025 a0003c0013t0019g0042 a0005c0009t0001g0059 a0005c0009t0002g0009 a0005c0009t0002g0217 a0005c0009t0003g0060 a0005c0050t0004g0187 a0005c0051t0002g0188 a0046c0111t0008g0208 a0052c0052t0080g0054 a0053c0058t0002g0191 a0065c0053t0002g0189 a0073c0069t0010g0061 a0078c0080t0012g0206 a0081c0057t0002g0190 a0082c0131t0038g0175 a0085c0041t0004g0184 a0086c0065t0072g0204 a0091c0066t0003g0205	60	236	0.2542	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	177	0.0056	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(605): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGG CTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTG GGCTCCTGCCCTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	177	0.0056	612	c.278 others(627): Show c.278+233_278+234insTAGGGCAGGAGCCCACCGTAGGCAGAGCCA GAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAG CCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCA GAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(605): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCACGGTCTCAGC CGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCT CAGGAGTCCCCACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGG GTCTCAGCCGTCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCC CACGGTCTCAGCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAG TCCCCACGGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCA GGAGTCCCCACCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGT CTCAACCGTCTCCACGGTCTCAGGAGTCCCCACGGTCTCAGGAGCCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGTCATCCCCACGGTCCCAGCCGTC CCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCTCAGC CGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACGGTCT CAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	302	0.0033	612	c.-19 others(623): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCT GAGACCACGGGGATGGCTGAGACCATGGGGATAGCTGAGACTGTGGGGAC TCCTGAGACCGTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(605): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGTCATCCCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTC CCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCTCAGC CGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACGGTCT CAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0048 a0009c0011t0001g0048	1	302	0.0033	612	c.-19 others(623): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTTGGACCGTGGGGAC GGCTGGGACCGTGGGGATGACTGAGACCGTGGGGACTCCTGAGACCGTGG AGACGGTTGAGACCATGGGGACTCCTGAGACCGTGGGGACGGCTGAGATG GTGGGGACTCCTGAGACGGTGGGGACGGCTGAGACCGTGGGGACTGCTGA GACCGTGGGGACTCCTGAGACCGTGGGGACTGCTGAGACCATGGGGACGG CTGAGACCGTGGGGACTGCTGAGACGGTGGGGACGGCTGGGACCGTGGGG ACGGCTGAGACCCTGGGGATGGCTGAGACCCTGGGGACGGCTGAGTCCGT GGGGACTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGA CCGTGGGGACGGCTGAGACCGTGGGGACTCCTGAGACCATGGGGACTGCT GAGACCACGGGGATGGCTGAGACCATGGGGATAGCTGAGACTGTGGGGAC TCCTGAGACCGTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar

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