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
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(767): Show AGGAGGAGGAGGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGGAGGA GGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAG GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAG GAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGAAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGG AGTGGAGGAGGGGGAGGAGGAGGAGGAGGGGGGGAGGAGGAGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGAGGA GGAGGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGGAGGAGGAGG AGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0134 a0134	a0134c0134 a0134c0134	a0134c0134t0001 a0134c0134t0001	a0134c0134t0001g0181 a0134c0134t0001g0181	1	252	0.0040	774	c.118 others(793): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTC CTCCTCCTCCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCCTCCT CCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCT CCTCCCTCTCCTCCTCCCCCCCTCCTCCTCCTCCTCCCCCTCCTCCACTC CCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCC TCCTTCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCC TCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOK7_chr4_3458306_3499482	3476128	T T	TCATGATG others(767): Show TCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCACCCCACCCGC CCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGA TGCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGA TGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGATG ACCTCTCGCCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCATGA TGCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCGCCTGCCCGTGA TGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCACCTGCCCAT GATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCTGCCC ATGATGCCCTCTCACCCCGCCTGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG02109.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0252 a0001c0001t0002g0170 a0001c0001t0002g0252	2	404	0.0050	774	c.332 others(789): Show c.332-200_332-199insACCCCGCCTGCCCATGATGCCCTCACCCCA CCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCC CATGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCG TGATGACCTCTCGCCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCGCCTGCC CGTGATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCACCTG CCCATGATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCC TGCCCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3476128	T T	TCATGATG others(767): Show TCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCACCCCACCCGC CCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGA TGCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGA TGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGATG ACCTCTCGCCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCATGA TGCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCGCCTGCCCGTGA TGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCACCTGCCCAT GATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCCC ATGATGCCCTCTCACCCCGCCTGCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	404	0.0025	774	c.332 others(789): Show c.332-200_332-199insACCCCGCCTGCCCATGATGCCCTCACCCCA CCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCC CATGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCG TGATGACCTCTCGCCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCGCCTGCC CGTGATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCACCTG CCCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCC TGCCCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(767): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTCAG GGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCT GCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACC CTCCACCCCACCCTCCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACC CGACCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTC CTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCTCCTCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTTCATCCTCAGG GAACCTGCCCACCCTCCACCCGACCTCCTCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCGACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCC CACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTC CTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCA TCCTCAGGGAACCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCA AGGAACCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACC TGCCCATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	374	0.0027	774	c.14 others(785): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGGTTCCTTGAGGATGC AGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGG TTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGC AGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGAT GAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGG AGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGAAGAGGAGGGTCGG GTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGTCGGGTGGAGGG TGGGCAGGTTCCCTGAGGATGAAGAGGAGGGTGGGGTGGAGGGTGGGCAG GCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGCTTCCCT GAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATA CAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTG AGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CTACCACC others(767): Show CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCA CCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCAT CCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCAC CATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACAC CCCCTACCACCATCCTCACCACCATCCCCATACACACCCCCACCACCATC ACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	250	0.0040	774	c.259 others(793): Show c.259+21954_259+21955insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTAGGGGG TGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGG TGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(767): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCCGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCATGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAAGTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAA AATCAATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGG TTTTGGATAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA18980.hp2 NA19002.hp2 HG00099.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0044 a0001c0002t0001g0041 a0001c0002t0006g0038 a0001c0001t0001g0044 a0001c0002t0001g0041 a0001c0002t0006g0038	3	374	0.0080	774	c.-51 others(785): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CCGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCATGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAAGTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATGTCTATTTCCTGAGAATTGTTGGAAA GAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACTTTTCT TGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(767): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAA AATCAATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGG TTTTGGATAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0180 a0001c0002t0007g0180	1	374	0.0027	774	c.-51 others(785): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATGTCTATTTCCTGAGAATTGTTGGAAA GAAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACTTTTCT TGCCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(767): Show TATATATCATATATGATATATATGATATATATGATATATGATATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATCATATATATCATATATGATATATATCATATATATATCATATAT GATATATATCATATATATCATATATGATATATATGATATATATCATATAT GATATATATCATATATATCATATATGATATATATCATATCATATATGATA TATATCATATATATCATATCATATATGATATATATGATATATATGATATA TCATATATATCATATATGATATGATATAACATATCATATCATATATGATA TATATGATATATCATATATATCATATATGATATATATGATATATATGATA TATCATATATATCATATATGATATATATGATATATATGATATATCATATA TATCATATATGATATATATGATATATATGATATATCATATATATCATATA TGATATATATGATATATATGATATATCATATCATATCATATATGATATAT ATGATATATATGATATATCATATCATATCATATATGATATATATGATATA TATGATATATCATATCATATCATATATGATATATATGATATATATGATAT ATCATATCATATCATATATGATATATATGATATATATGATATATCATATC ATATCATATATGATATATATGATATATATGATATATCATATCATATCATA TATGATATATATGATATATCATATC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	46	0.0217	774	c.-11 others(795): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATGATATGATATGATATATCATATATATCATATATATCATATATGATA TGATATGATATATCATATATATCATATATATCATATATGATATGATATGA TATATCATATATATCATATATATCATATATGATATGATATGATATATCAT ATATATCATATATATCATATATGATATGATATGATATATCATATATATCA TATATATCATATATGATATGATATGATATATCATATATATCATATATATC ATATATGATATATATGATATATCATATATATCATATATATCATATATGAT ATATATGATATATCATATATATCATATATATCATATATGATATATATGAT ATATCATATATATCATATATATCATATATGATATATATGATATATCATAT ATATCATATATGATATGATATGTTATATCATATCATATATGATATATATG ATATATCATATATATCATATATATCATATATGATATGATATATATGATAT ATATCATATATGATATGATATATATCATATATGATATATATGATATATAT CATATATGATATATATCATATATATCATATATGATATATATGATATATAT CATATATGATATATATATGATATATATCATATATGATATATATGATATAT ATCATATATGATATATATCATATATATCATATATGATATATATCATATAT ATCATATATATCATATATCATATATATCATATATATCATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(767): Show AATATATATTTATATGCATATAAATATATATTTATATACATATAAATATA TATGTATATACATATAAATATATGTATATACATATAAATATATATGTATA TACATATAAATATATATGTATATACATATATATGTATATACATATATATA TATGTATATACATATATATATGTATATACATATAAATATATATGTATATA CATATATATATGTATATACATATAAATATATATGTATATACATATAAATA TATATGTATATACATATAAATATATATGTATATACATATAAATATATATG TATATACATATAAATATATATGTATATACATATAAATATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATATTTACATACATATAAATATATATTTACATACATATAAATATATA TTTACATACATATAAATATATATTTACATACATATAAATATATACATTTA TATACATATAAATATATACATATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATATATTTATATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATACATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0287 a0006c0009t0001g0287	1	292	0.0034	774	c.50 others(785): Show c.5093_*5094insATTTATATGTATATATATATAAATATATATATAT TTATATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTATATATATATAAATATATATAAATATATATATTTATATGTATATAA ATATATATTTATATGTATATATGTATATATTTATATGTATATAAATGTAT ATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATATTT ATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGT ATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATACATATATATTTATATGTATATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATATGTATATACAT ATATATTTATATGTATATACATATATATATGTATATACATATATATATAT GTATATACATATATATGTATATACATATATATTTATATGTATATACATAT ATATTTATATGTATATACATATATTTATATGTATATACATATATATTTAT ATGTATATAAATATATATTTATATGCATATAAATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346907	T T	TGACAGTG others(767): Show TGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGA CCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGA CCCGGGAGGACCTCTGTGGCTGAGAACAGACCCAGGAGGACCTCTGTGGC CGAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGA CCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGA CCCGGGAGGACCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGGC CGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACC TCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCG AGAACAGATCCGGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACC TCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTG GGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGCACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGG AGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAA CAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	288	0.0035	774	c.466 others(791): Show c.466-1949_466-1948insGGCTTCAGAGGTCCTCCCGGATCTGTTC TCGGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAG GTGCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTC AGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAG ATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCGCTCTCAGCCACAGAGGT CCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGATCTGTTCTCGG CCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCGGGT CCACTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTTTGCCACAGAGGT CCTCCCGGATCCGCTCAGCCACAGAGGTGCTCCTGGGTCCGCTCTCGGCC ACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGGTCT GCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCC TCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCC ACAGAGGTCCTCCTGGGTCTGTTCTCAGCCACAGAGGTCCTCCCGGGTCC ACTGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCC TCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HNF4A_chr20_44350699_44437845	44404778	T T	TGTTTGTT others(767): Show TGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGT ATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAA GTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTG CTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTG TGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGC GTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGT GGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGTGGAC TGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCAT GTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCA CGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGT GTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGT GTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGT GTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGGATTGTGTGGTGTG TGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTGTGT GCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTG GATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0119 a0001c0001t0014g0119	1	322	0.0031	774	c.50- others(789): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGA CTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTG GTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTG TGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCA CGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGT GTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGT GTGGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGC TTGTGTGTGGTGTGTGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTG CTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(767): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0330 a0001c0001t0003g0330	1	376	0.0027	774	c.666 others(791): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IGSF9B_chr11_133891438_133961968	133932575	G G	GACAGACA others(767): Show GACAGACAGACAGACACAGGGACAGACAGACAGACACGGGGACAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGATAC AGGGACAGACAGACAGACACAGGGACAGACAGACAGACACAGGGAAGCCA GGTGAGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGAC AGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGA CACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGC CAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAG ACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACA GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCA GGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGC AGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGA CAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGG AAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACGGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0075 a0001c0003t0052g0075	1	362	0.0028	774	c.968 others(789): Show c.968-363_968-362insGTCTGCTCTCCCACCTGGCTTCCCTGTGTC TGTCCGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGTCT GCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACC TGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTG TGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCTCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCCCTGTGTCTGTCTGTCTGTCCCTGTATC TGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGT CTGTCCCCGTGTCTGTCTGTCTGTCCCTGTGTCTGTCTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(767): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTGTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTC TCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 NA20805.hp1 HG03710.hp2 NA20805.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0014 a0001c0001 a0016c0014	a0001c0001t0002 a0016c0014t0002 a0001c0001t0002 a0016c0014t0002	a0001c0001t0002g0001 a0016c0014t0002g0077 a0001c0001t0002g0001 a0016c0014t0002g0077	2	370	0.0054	774	c.-27 others(785): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(767): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTGTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTC TCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	370	0.0027	774	c.-27 others(785): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHFPL3_chr7_104323603_104913561	104824255	T T	TATATATA others(767): Show TATATATATTATATATTATATATTATATATAATATATATATTATATATTA TATATTATATATATAATATATATATTATATATTATATATTATATATATTA TATATATATTATATATTATATATTATATATATTATATATATATTATATAT TATATAATATATATATTATATATTATATATATTATATTATATATTATATA TATAATATATTATATTATATATATTATATAATATATTATATATTATATAT ATATTATATAATATATTATATATAATTATATATATTTTATATATTATATA TTATATATTATATATTATATATTATATATTATATTATATATAATTATATA TATTTTATATATTATATATTATATATTATATATTATATATTATATATTAT ATATATTATATATTATATATTATATATTATATATTATATATTATATATTA TATATACAATTATATATATTATATATATTATATATTATATATATTATATT ATATAATATATTATATATATAATATATATTATATATTATATATTATATAA TATATTATATATATAATATATATTATATATTATATATTATATAATATATT ATATATATAATATATATTATATATTATATATTATATAATATATTATATAT ATAATATATATTATATATTATATATTATATAATATATTATATATATAATA TATATTATATAATATATATTATATAAATATTATATATATAATATATATTA TATAATATATATTATATAAATATTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	86	0.0116	774	c.683 others(793): Show c.683-81932_683-81931insATATATATTATATATTATATATTATA TATAATATATATATTATATATTATATATTATATATATAATATATATATTA TATATTATATATTATATATATTATATATATATTATATATTATATATTATA TATATTATATATATATTATATATTATATAATATATATATTATATATTATA TATATTATATTATATATTATATATATAATATATTATATTATATATATTAT ATAATATATTATATATTATATATATATTATATAATATATTATATATAATT ATATATATTTTATATATTATATATTATATATTATATATTATATATTATAT ATTATATTATATATAATTATATATATTTTATATATTATATATTATATATT ATATATTATATATTATATATTATATATATTATATATTATATATTATATAT TATATATTATATATTATATATTATATATACAATTATATATATTATATATA TTATATATTATATATATTATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATATTATA TATTATATATTATATAATATATTATATATATAATATATATTATATATTAT ATATTATATAATATATTATATATATAATATATATTATATATTATATATTA TATAATATATTATATATATAATATATATTATATAATATATATTATATAAA TATTATATATATAATATATATTATATAATATATATTATATAAATATTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124471584	A A	ATGTATAT others(767): Show ATGTATATATTTATATATATTTATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATATTTATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTTTATATAGTTATATATAGTTATATATAGT TATATATAGTTATATATATTTATATTTATATATATATTTATATATATATT TATATATATTATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATACTTATATATATTTATATATATATTTATATATATACTTATATATATTT ATATATATATTTATATATATTTATATATATACTTATATATATTTGTATAT ATATTTATATATATATTTGTATATATATTTATATATATATTTATAAATTT ATATATGTATTTATATATATTTATATATGTATTTATATATATTTATATGT ATTTATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATTTATATATATTTATATATATTTATATATTTATATATAT TTATATATATAAATATAAATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	260	0.0039	774	c.125 others(791): Show c.125+9598_125+9599insGTATATATTTATATATATTTATATATTT ATATGTATTTATATATATATTTATATGTATTTATATATATTTATATATTT ATATGTATTTATATATATATTTATATGTATTTATATATATTTATATATAT TTTTTATGTATTTATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATTTTTATATAGT TATATATAGTTATATATAGTTATATATAGTTATATATATTTATATTTATA TATATATTTATATATATATTTATATATATTATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATACTTATATATATTTATATATATATTTAT ATATATACTTATATATATTTATATATATATTTATATATATTTATATATAT ACTTATATATATTTGTATATATATTTATATATATATTTGTATATATATTT ATATATATATTTATAAATTTATATATGTATTTATATATATTTATATATGT ATTTATATATATTTATATGTATTTATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATTTATATATATTTATATAT ATTTATATATTTATATATATTTATATATATAAATATAAATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(767): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTA TAGTTATATATAGTTATGTATAGTTATATATATAGTTATATATAGTTATA TATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTT TATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATA TTTTTATATATATAGTTATATATATATATTTTTTATATATATAGTTATAT ATATATTTATATATATAGTTATATATTTATATATATTTATATATATTTAT ATATATATTTATATATTTATTTATATATATTTATATATGTATTTATATAT ATTTATATATATTTATATGTATTTATATATATTTATATATATTTATATAT ATATATATAAATATATTTATATATATAAATATAAATATTTATATATATTT ATATATATTTATATATATATTTATGTATATTTATATATATTTATATATAT ATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	260	0.0039	774	c.125 others(791): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATATTTTTATATATATTTATATATATT TTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATATATAGTTATATATAGTTATATATATATATTTTTATATATATA GTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTATA TATATAGTTATATATATATTTTTATATATATAGTTATATATATATATTTT TTATATATATAGTTATATATATATTTATATATATAGTTATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATTTATATATATTT ATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATAT TTATATATATTTATATATATATATATAAATATATTTATATATATAAATAT AAATATTTATATATATTTATATATATTTATATATATATTTATGTATATTT ATATATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610863	A A	AGGGTGAG others(767): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGC GGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTG TTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGCG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGA GCGGGTGAGGGTGCTGGTGGAGCGGGTGTGGGTGAGGGTGAGGGTGCTGA TGGAGCGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGT GCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAG GGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGC TGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGAGGGTGTTGACGGAGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	260	0.0039	774	c.717 others(791): Show c.717-2390_717-2389insCTGGTGGAGCGGGTGAGGGTGAGGGTGA GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAG GGTGCGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGCGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGA GCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGG TGTTGACGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGTGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGC AGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATG GAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAG GGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGG AGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGG GTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCT GATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(767): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AGAAGTTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	228	0.0044	774	c.337 others(793): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAGAGTTTTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAN1B1_chr9_137081985_137114183	137102565	G G	GTTGCAGG others(767): Show GTTGCAGGCGTGCAGGTCGGTGGTACACACATTCATGCTGTTGCAGGCGT GCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGT TACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTACACACATTC ATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTTTCACGCTGTT GCAGGCGTGCAGGTCGGTGCTGTTACACACATGCTGTTGCAGGCGTGCAG GTCGGTGGTGTTACATTTACACTGTTGCAGGCGTGCAGGTCAGTGGTGTT ACATTCATGCTGTTGCAGGCCTGCAGGTCGGTGGTGTTACACACATTCAC GCTTTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGC ATGCAGGTCGGTGGTGTTACAGACATTAACGCTGCTGCAGGCGTGCAGGT CGGTGGTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTA CATTCACGCTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTGACACTT GCAGGCGTGCGGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGT GCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGG TACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACTTTCACG CTGTTGCAGACGTGCAGGTCGGTGCTGTTACACACGCTGTTGCAGGCGTG CAGGTCGGTGGTGTTACATTCACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0138 a0002c0003t0002g0138	1	404	0.0025	774	c.125 others(791): Show c.1254+899_1254+900insGCGTGCAGGTCGGTGGTACACACATTCA TGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGG CGTGCAGGTCGGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCG GTGGTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACA CATTTTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATGCT GTTGCAGGCGTGCAGGTCGGTGGTGTTACATTTACACTGTTGCAGGCGTG CAGGTCAGTGGTGTTACATTCATGCTGTTGCAGGCCTGCAGGTCGGTGGT GTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTGTTACATT CACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACAGACATTAACGCTGC TGCAGGCGTGCAGGTCGGTGGTACACACATTCACGCTGTTGCAGGCGTGC AGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTTGGTGTTA CACACATTGACACTTGCAGGCGTGCGGGTCGGTGGTGTTACACACATTCA TGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGG CGTGCAGGTCGGTGGTACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTG TTACACACTTTCACGCTGTTGCAGACGTGCAGGTCGGTGCTGTTACACAC GCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAG	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(767): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCCACCT CCCTCCCGGAAGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCCCACCTCCCAGCAGGGGCGGCTGGGCAGAGGCGCC CCCCACCCCCCGGACGGGGCGGCCGGCCGTGGGGGCTAACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCC TGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCGGG CGGGGGCTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0041 a0012c0017t0001g0041	1	334	0.0030	774	c.-28 others(793): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGTTAGCCCCCACGGCCGGCCGCCCCGTCCGGGGGGTGGGGG GCGCCTCTGCCCAGCCGCCCCTGCTGGGAGGTGGGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCTTCCGGGAGGGA GGTGGGGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7061798	T T	TATATAAT others(767): Show TATATAATTTATATATAATATAATTATATAATATATAATTTATATATAAT ATAATTATATAATATATAATTTATATATAATATAATTATATAATATATAT TTATATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATTTATATAATATATAATTATATAATATAATTATATATTTATATAAATTA TAATTATATTATATAATTATATTATTTATTAATATATTATATAATTATAT AATTATATATATTATATATTATATTATTTATTCATTCTATATATATAATT ATATAATATAATTATATTATATATTATATATTATAATATAATTATATAAT ATAATTATATTATATAATTATAATATAATTATATAATATAATTATATTAT ATATAATTATATTAAATATATTATATAATATATAATTATATTATATATTA TATAATATATAATTATATTATATATTATATAATATATAATTATATTATAT ATTATATAATATATAATTATATTATATATTATAATACATTTAATATAATT ATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATA TATAATATATTATATATAATTATATTATAACATATTATATATAATTATAT TATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATATA ATTATATTCTATATATAATTATATATAATATAATTATATTCTGTATATAA TTATATATAATATAATTATATTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	288	0.0035	774	c.-31 others(785): Show c.-3194_-3193insCAGAATATAATTATATTATATATAATTATATACA GAATATAATTATATTATATATAATTATATATAGAATATAATTATATATTA TAACATATTATATATAATTATATTATAGATTATGATCTATAATATAATTA TATATAATATGTTATAATATAATTATATATAATATATTATATATTATAAT ACTATTAATATAATTATATTATAGATTATAATCTATAATATAATTATATT AAATGTATTATAATATATAATATAATTATATATTATATAATATATAATAT AATTATATATTATATAATATATAATATAATTATATATTATATAATATATA ATATAATTATATATTATATAATATATTTAATATAATTATATATAATATAA TTATATTATATAATTATATTATAATTATATAATATAATTATATTATATAA TTATATTATAATATATAATATATAATATAATTATATTATATAATTATATA TATAGAATGAATAAATAATATAATATATAATATATATAATTATATAATTA TATAATATATTAATAAATAATATAATTATATAATATAATTATAATTTATA TAAATATATAATTATATTATATAATTATATATTATATAAATATAATTATA TTATATATAAATTATATATTATATAATTATATTATATATAAATATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAAATTATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3123		chr19	TogoVar
MCF2L_chr13_112964214_113104742	113033399	G G	GAGTGGCC others(767): Show GAGTGGCCCCCGTGACGTGAGTGGCCCCCGTGACATTAGTGGACCCCATG GCGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGACGTGAGTGGCCCC TGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCATGACGTGAGTGG CCCCCGTGACGTGAGTGGTCCCCGTGACATTAGTGGCCCCCATGACGTGA GTGGCCCCCGTGATGTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGAC GTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCA TGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGACGTGAGTGGCC CCTGTGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAGT GGCCCCCATGACGTGAGTGGCCCCCGTGACGTGAGTGGTCCCCGTGACAT TAGTGGCCCCCATGACGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTG ATGTGAGTGGCCCCCGTGATGTGAGTGGCTCCCGTGACATGAGTGGCCCC TGTGACATTAGTGGACCCCGTGACGTGAGTGGCCCCTGTGACATTAGTGG ACCCCGTGGCGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGATGTGA GTGGCCCCCGTGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGAC GTGAGTGGCCCCCGTGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCCTG TGGCGTGAGTGGCCCCTGTGACATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	1	116	0.0086	774	c.278 others(791): Show c.278+8646_278+8647insCCCCCGTGACGTGAGTGGCCCCCGTGAC ATTAGTGGACCCCATGGCGTGAGTGGCCCCCATGACGTGAGTGGCCCCCG TGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAGTGGCC CCCATGACGTGAGTGGCCCCCGTGACGTGAGTGGTCCCCGTGACATTAGT GGCCCCCATGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGATGT GAGTGGCCCCCGTGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTG GCGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCC CGTGACGTGAGTGGCCCCTGTGACGTGAGTGGCCCCTGTGACATTAGTGG ACCCCGTGGCGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGACGTGA GTGGTCCCCGTGACATTAGTGGCCCCCATGACGTGAGTGGCCCCCATGAC GTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGATGTGAGTGGCTCCCG TGACATGAGTGGCCCCTGTGACATTAGTGGACCCCGTGACGTGAGTGGCC CCTGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCATGACGTGAGT GGCCCCCGTGATGTGAGTGGCCCCCGTGACGTGAGTGGCCCCTGTGACAT TAGTGGACCCCGTGACGTGAGTGGCCCCCGTGACGTGAGTGGCCCCCGTG ATGTGAGTGGCCCCTGTGGCGTGAGTGGCCCCTGTGACATTAGTGG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(767): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCC TCCTCCCCTCCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC CTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCTC CCCTTCCCCTCCCCTCCCCTCCACCCTCCCTCCCCTCCCCTCCCCTCCTC CCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCCCTCCACCCTCCCTT CCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCC CTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTT CCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCC CCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCC CCTCCCCTCCCTTCCCCTCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCC CCTCCCTTCCCCTCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTG CCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCC CACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCC CCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0165 a0002c0002t0005g0165	1	278	0.0036	774	c.115 others(791): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCC CCCTCCTCCCCTCCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCC CTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCC TCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CTCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCCCTCCACCCTCC CTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCT CCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCC CTTCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCCCCTC CCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCC GCCCCTCCCCTCCCTTCCCCTCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCCCCTCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCCGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTC TCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17877139	G G	GGTTAGGG others(767): Show GGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGG AGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGT TATGGAGGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0032 a0001c0002t0030g0032	1	274	0.0037	774	c.224 others(793): Show c.2242-5117_2242-5116insTTCCCTAACCTCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC ATAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAAG CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCC TAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCT CCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAACCTC CCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC CTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
NINL_chr20_25447697_25590531	25562270	G G	GGCCAGCC others(767): Show GGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCC GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCAGGCG AGACGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT GGGGGAGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTT GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG02486.hp2 others(8): Show HG00741.hp1 HG01109.hp2 HG02486.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03540.hp1 NA19043.hp1	a0002 a0019 a0002 a0019	a0002c0008 a0002c0011 a0002c0022 others(1): Show a0002c0008 a0002c0011 a0002c0022 a0019c0024	a0002c0008t0002 a0002c0011t0002 a0002c0022t0002 others(1): Show a0002c0008t0002 a0002c0011t0002 a0002c0022t0002 a0019c0024t0002	a0002c0008t0002g0194 a0002c0008t0002g0195 a0002c0008t0002g0197 others(8): Show a0002c0008t0002g0194 a0002c0008t0002g0195 a0002c0008t0002g0197 a0002c0008t0002g0198 a0002c0008t0002g0200 a0002c0011t0002g0235 a0002c0011t0002g0236 a0002c0011t0002g0237 a0002c0011t0002g0238 a0002c0022t0002g0199 a0019c0024t0002g0051	11	310	0.0355	774	c.-12 others(793): Show c.-12+23184_-12+23185insTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCA ACCAGCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGACTGACTCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGTCTC GCCTGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGAGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCAGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCG GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136528378	A A	ATGGGCAG others(767): Show ATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCA GGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGG GACGGTGAGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACA GTGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGG TGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGGACAGTGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATG GGCAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGA CAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGAGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAAGGACAGTG GGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGA TGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGA CAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0026 a0001c0040t0026	a0001c0040t0026g0058 a0001c0040t0026g0058	1	324	0.0031	774	c.141 others(791): Show c.141-4400_141-4399insCCCCCCACTGTCCCTGCCCATCCCCCTC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCAC TGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCTCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCC CTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCAT CCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCC CACTGTCCCTGCCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCT GCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCC CCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCACTGT CCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCT GCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGC CCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535671	T T	TGGAGGGG others(767): Show TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	324	0.0031	774	c.140 others(791): Show c.140+8352_140+8353insCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCAC CCTGCACCCATTGCTCCTGGGAGGGATCCTGAGTGCTCCCCCCTCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(767): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAAC TATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATT TTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18969.hp2 NA18990.hp1 NA18963.hp2 NA18969.hp2 NA18990.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0234 a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0234	3	244	0.0123	774	c.342 others(793): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAA CTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAAC TATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATA TAGTTTAAACTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTA AAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTAAA CTATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAA CTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(767): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAATTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAAC TATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATT TTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0228 a0001c0005t0001g0228	1	244	0.0041	774	c.342 others(793): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAA CTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAAC TATATATAAACTAGTTTAAAACTATATAATTTATATAGTTTAAAACTATA TAGTTTAAACTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTA AAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTAAA CTATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAA CTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NXN_chr17_794310_984776	810309	G G	GTGGCGTG others(767): Show GTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACGAGTCTGTGAATGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTT ACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAATGGCGTGCA CGTTACGAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCGTG CACGTTACCAGTCCGTGTGAGTGGTGTGCACGTTACGAGTCCGTGTGAGT GGTGTGTACGTTACAAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGA GTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGTCTGT GAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGT GTGAGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGA GTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGGGTGGTGTGCACGTTAC GAGTCCGTGTGAGTGGCGTGCACGTTACAAGTCTGTGAGTGGTGTGCACG TTACGAGTCTGTGACTGGTGTGCACGTTACGAGTGCGTGTGAGTGGCGTG CACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGT GGTGTGCATGTTACGAGTCTGTGAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 HG01243.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0222 a0001c0001t0001g0076 a0001c0001t0001g0222	2	242	0.0083	774	c.821 others(791): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ACGTGCACGCCATTCACAGACTCGTAACGTACACACCACTCACACGGACT CGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACACG GACTCGTAACGTGCACGCCACCCACAGATTCGTAACGTGCACGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	841526	C C	CGACCACA others(767): Show CGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCCCCCGACCATGGAGCATCTCACACTG GCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTC CACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGTCCCCCCTGACCA CGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCA CACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACGCCGGCGAGC AGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACG GCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCA GGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCTGACCACAGCGCATC TCACACGGGCGAGCAGGTCCACCCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	242	0.0041	774	c.361 others(793): Show c.361-15449_361-15448insAGGGTGGACCTGCTCGCCCGTGTGAG ATGCGCTGTGGTCAGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATG CGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTG CTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTTGCCCGTGT GAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCGT GGTCAGGGGGGACCCGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCC AGTGTGAGATGCTCCATGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(767): Show AAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG GAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCAC ACCCACAGGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGG CGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGG CGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGG TCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGG CAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACGGGCG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	242	0.0041	774	c.361 others(793): Show c.361-15551_361-15550insCGCCCGTGTGAGATGCTCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGC CCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCCTGTGGGTG TGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(767): Show AAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCAC ACCCACAGGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCA GGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCAT CTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGG AGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGG TCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGG CAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACGGGCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	242	0.0041	774	c.361 others(793): Show c.361-15551_361-15550insCGCCCGTGTGAGATGCTCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCCTGTGGGTG TGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952763	A A	AGTCAGAG others(767): Show AGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAG AGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTA CCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTC AGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG GGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18955.hp1 HG01928.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0138 a0001c0001t0029g0134 a0001c0001t0001g0138 a0001c0001t0029g0134	2	242	0.0083	774	c.360 others(793): Show c.360+26555_360+26556insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAG TGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(767): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCC TCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTCT CCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCC CCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTCTCCTCCCCCT CGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCG TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0012 a0001c0001t0016g0012	1	68	0.0147	774	c.62- others(793): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGAC GAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGGGAGGGGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGG GGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAAGGGGGATGGGCGA GGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGAGGG GGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGA GGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGA GAGAATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAG GGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(767): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATGCATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACACATATACAT ATATATGCATATGTGTGTATATATACATATACATATATATGCATATGTGT GTATATATACATATACATATATATGCATATATGTGTATACATATACATAT ATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGT GTGTATATATACACATATATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0025 a0001c0005t0001g0025	1	456	0.0022	774	c.31 others(785): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATGCATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACACATATACATATATATGCATATGTGTGTATATATACATATACATA TATATGCATATGTGTGTATATATACATATACATATATATGCATATATGTG TATACATATACATATATATGTGTGTGTATATATATGTGTGTGTATATATA CACATATATATGTGTGTGTATATATACACATATATATGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(767): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0173 a0020c0017t0001g0173	1	268	0.0037	774	c.292 others(789): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTG TCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(767): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCACCACCATCATCACCATCACCACCA GCACCACCACCAACATCATCATCATCACCACCACCACCATCATCACCATC ACCACCAGCACCACCACCATCACCACCACCATCACCACCACCACCACCAC CATCATCACCATCACCACCAGCACCACCACCAACATCATCATCATCACCA CCACCACCACCATCACCACCACCACCACCATCAACACCACCATCATCATC ACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0014 a0005c0014t0014	a0005c0014t0014g0278 a0005c0014t0014g0278	1	322	0.0031	774	c.48 others(785): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGA TGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGAT GATGGTGGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGA TGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGGTGAT GATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATGGTGATGGT GATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGT GATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGT TGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATG GTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGAGATG GTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGT GATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50397540	G G	GGGGGGCG others(767): Show GGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGC CCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGGCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACC AGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0286 a0001c0017t0011g0286	1	340	0.0029	774	c.227 others(791): Show c.227+3411_227+3412insGGGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGG CCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCTGTCCTCACCAGCCT TGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKX_chrX_3599340_3718649	3639456	G G	GGGTGGTA others(767): Show GGGTGGTAGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGG GGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGGGG GTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAG ATGGATGAAGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGG ATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGTGCATGGATGGAT GAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAG GGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGG TGGGGTGGTAGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTG GGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGG GGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGT AGATGGATGAAGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGAT GGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGTGCATGGATGG ATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGA AGGGGTGGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAG GGGTGGGGTAGTAGATGGATGAAGGGGTGGGGGGGGTGGATGAATGAAGG GGTGGGGGTGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0181 a0001c0001t0008g0181	1	227	0.0044	774	c.719 others(791): Show c.719+2395_719+2396insACCCCTTCATCCATCCACCCCCACCCCT TCATTCATCCACCCCCCCCACCCCTTCATCCATCTACTACCCCACCCCTT CATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCCCACCCCTTCA TCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCA TCCATGCACCCACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATC CACCCCCACCCCTTCATCCATCCATGCACCCACCCCTTCATCCATCTACC ACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCC CCACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCAC CCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCTACCACCCCACCC CTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTT CATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATC CATCCATGCACCCACCCCTTCATCCATCTACCACCCCACCCCTTCATCCA TCCACCCCCACCCCTTCATCCATCCATGCACCCACCCCTTCATCCATCTA CCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCC CCCCACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCC ACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCTACCACC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(767): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	295	0.0034	774	c.126 others(793): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492487	T T	TTCCCGGG others(767): Show TTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGC CGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGA GCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGA GGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCC CGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTC CAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGGGA CCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGG CCGTCCAGAGCCCTTCCCGGGGGACCCGAGGCCGCCCAGAGCCCTTCCCG GGGGACCCGAGGCCGTCCAGAGCCCTTCCCGGGGGACCCGAGGCCGCCCA GAGCCCTTCCCGGGGGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACC CGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCT CCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGG GGACCCGAGGCCGTCCAGAGCCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	295	0.0034	774	c.126 others(793): Show c.1265+3487_1265+3488insTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCC AGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCC TCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGC CGTCCAGAGCCCTTCCCGGGGGACCCGAGGCCGCCCAGAGCCCTTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAG AGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGGGACCC GAGGCCGCCCAGAGCCCTTCCCGGGGGACCCGAGGCCGTCCAGAGCCCTT CCCGGGGGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGGACCCGAGGCCG CCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGA GACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGA GGCCGTCCAGAGCCCTTCCCGGGGGACCCGAGGCCGTCCAGAGCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RASA3_chr13_113972783_114137623	114099783	G G	GCCCCCCC others(767): Show GCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCA CAGCCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCC CCACAGCCCCCACACAGCCCCCACACAGCCCACACAGCCCCCACAGCCCC CACAGCCCCCACACAGCCCCCACACAGCGCCCCCACAGCCCCCCCACAGC CCCCCCACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCCCCACAGCCCC CCCACAGCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCACAG CCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCAC AGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCC ACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCC CCCACAGCCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCACAGCCC CCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCACAGCCCCCACA GCCCCCCCACAGCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCCCAC AGCCCCCCACAGGCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCC ACAGCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCC CACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCA GCCCCCCCACAGCCCCCACAGCAGC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	67	0.0149	774	c.56- others(791): Show c.56-25947_56-25946insGCTGCTGTGGGGGCTGTGGGGGGGCTGC TGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGG GGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGG GGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGCCTGTGGGGGGCTGTG GGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGCTGTGGGGGGGCTGT GGGGGCTGTGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGG CTGTGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGG GCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGG GGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTG GGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTG TGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGG GCTGTGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCT GTGGGGGGGCTGTGGGGGCGCTGTGTGGGGGCTGTGTGGGGGCTGTGGGG GCTGTGGGGGCTGTGTGGGCTGTGTGGGGGCTGTGTGGGGGCTGTGGGGG GGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGG GGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBPMS_chr8_30379541_30577256	30388407	T T	TTATAGCT others(767): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	304	0.0033	774	c.66+ others(789): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(767): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	304	0.0033	774	c.66+ others(789): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(767): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTACAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	304	0.0033	774	c.66+ others(789): Show c.66+3399_66+3400insCAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(767): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18747.hp2 NA18966.hp1 HG00621.hp2 NA18747.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049	3	304	0.0099	774	c.66+ others(789): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388500	T T	TTATAGCT others(767): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	304	0.0033	774	c.66+ others(789): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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