Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ZNF365_chr10_62369369_62407450	62370977	T T	TCATATGT others(416): Show TCATATGTGATATATATGGTATATATGATATATATCATATATATCATATG TGATATATATGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATA TATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATA TATCATATATATGATATATATCATATATATCATATATATGATATATATCA TATATATCATATATATGATATATATCATATATCATATATATGATATATAT CTCATATATATATCATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	423	c.-34 others(434): Show c.-3495_-3494insCATATGTGATATATATGGTATATATGATATATAT CATATATATCATATGTGATATATATGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATATATGTCACATATATCATATGT GATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGT GATATATATCATATATATCATATATATGATATATATCATATATATCATAT ATATGATATATATCATATATATCATATATATGATATATATCATATATCAT ATATATGATATATATCTCATATATATATCATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TCATATGT others(416): Show TCATATGTGATATATATGGTATATATGATATATATCATATATCATATGTG ATACATATGACATATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCATATATA TCATATATATGATATATATCATATATATCATATATATGATATATATCATA TATATCATATATATGATATATATCATATATATCATATATATGATATATAT CACATATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0069 a0001c0001t0025g0069	1	350	0.0029	423	c.-34 others(434): Show c.-3495_-3494insCATATGTGATATATATGGTATATATGATATATAT CATATATCATATGTGATACATATGACATATATGACATATATCATATGTGA TACATATGACATATATCATATGTGATACATATGACATATATCATATGTGA TACATATGACATATATCATATGTGATACATATGACATATATCATATGTGA TACATATGACATATATCATATGTGATACATGTCACATATATCATATGTGA TATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTGA TATATGTCATATATATCATATATATGATATATATCATATATATCATATAT ATGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATATATGATATATATCACATATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(416): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCCTC CGCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTC ACCGCGCATTCCGCATTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	410	0.0024	423	c.-10 others(440): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGG GGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTG GGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAA TGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCG TGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGG AATGCGCGGTGACTGCCGTGGGCGCGGAGCGGGGAATGCGCGGTGACTGC CGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(417): Show ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAA ATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATAT AAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATAT TTATAGATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	306	0.0033	424	c.130 others(443): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTA TATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATT TATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTA TATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATA TTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAA TATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(417): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTA TATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATA AATATATCAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATA TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0110 a0001c0002t0004g0110	1	306	0.0033	424	c.130 others(443): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTT ATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975438	T T	TATAAATA others(417): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	306	0.0033	424	c.130 others(443): Show c.1308+1138_1308+1139insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(417): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATACTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTTTATATTTATAGATAAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0005 a0002c0061t0005	a0002c0061t0005g0220 a0002c0061t0005g0220	1	306	0.0033	424	c.130 others(443): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAGTATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975564	T T	TATATTTA others(417): Show TATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGA TAAATATATAAATATATAAATATTTATATATTTATCGATAAATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTGTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATA TATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTT TATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGA TAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18947.hp2 NA19010.hp2 HG02071.hp1 NA18947.hp2 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0030 a0001c0006t0002 a0001c0007t0001 a0001c0005t0030 a0001c0006t0002 a0001c0007t0001	a0001c0005t0030g0106 a0001c0006t0002g0112 a0001c0007t0001g0291 a0001c0005t0030g0106 a0001c0006t0002g0112 a0001c0007t0001g0291	3	306	0.0098	424	c.130 others(443): Show c.1308+1012_1308+1013insTTAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATAT ATTGATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAACAATATTTATATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATCGATAAATATATAAATATTTATATATTTATATATTTAT CTATAAATATATAAATATTTATATATTTATATATTTATCTATAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975591	A A	ATAAATAT others(417): Show ATAAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTAT ATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATAT AAATATATAAATATTGTTATATTTATAGATAAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATAT ATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTT ATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATAT AAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTAAAT ATTTATAGATAAATATATAAATATT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19064.hp1 NA18939.hp2 NA19064.hp1	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0001 a0001c0015t0002 a0001c0007t0001 a0001c0015t0002	a0001c0007t0001g0289 a0001c0015t0002g0290 a0001c0007t0001g0289 a0001c0015t0002g0290	2	306	0.0065	424	c.130 others(441): Show c.1308+985_1308+986insAATATTTATATATTTATCTATAAATATT TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATA AAAATATTTATATATTTATCTATAAATATAACAATATTTATATATTTATA TATTTATCTATAAATATATAAATATTTATATATTTATCTATAAATATATA AATATTTATATATTTATATATTTATCTATAAATATATAAATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975591	A A	ATAAATAT others(417): Show ATAAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTAT ATATTTATCGATAAATATATAAATATTTATATATTTATAGATAAATATAT AAATATATAAATATTGTTATATTTATAGATAAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATAT ATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTT ATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATAT AAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTAAAT ATTTATAGATAAATATATAAATATT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18939.hp1 NA18943.hp2 others(9): Show NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18970.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA19011.hp1 NA19057.hp2 NA19078.hp1 NA19087.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0030 a0015c0029	a0001c0001t0001 a0001c0005t0001 a0001c0005t0017 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0017 a0001c0006t0002 a0001c0006t0034 a0001c0030t0002 a0015c0029t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0005t0001g0105 others(9): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0005t0001g0105 a0001c0005t0001g0203 a0001c0005t0001g0205 a0001c0005t0017g0005 a0001c0006t0002g0103 a0001c0006t0002g0107 a0001c0006t0002g0111 a0001c0006t0034g0114 a0001c0030t0002g0116 a0015c0029t0001g0108	12	306	0.0392	424	c.130 others(441): Show c.1308+985_1308+986insAATATTTATATATTTATCTATAAATATT TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATA AAAATATTTATATATTTATCTATAAATATAACAATATTTATATATTTATA TATTTATCTATAAATATATAAATATTTATATATTTATCGATAAATATATA AATATTTATATATTTATATATTTATCTATAAATATATAAATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975591	A A	ATAAATAT others(417): Show ATAAATATTTATATATTTATCGATAAATATATAAATATATAAATATTTAT ATATTTATCGATAAATATATAAATATTTATATATTTATAGATAAATATAT AAATATATAAATATTGTTATATTTATAGATAAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATAT ATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTT ATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATAT AAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTAAAT ATTTATAGATAAATATATAAATATT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0113 a0001c0006t0002g0113	1	306	0.0033	424	c.130 others(441): Show c.1308+985_1308+986insAATATTTATATATTTATCTATAAATATT TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATA AAAATATTTATATATTTATCTATAAATATAACAATATTTATATATTTATA TATTTATCTATAAATATATAAATATTTATATATTTATCGATAAATATATA AATATTTATATATTTATATATTTATCGATAAATATATAAATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(417): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCC CCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGA GACCAAAGGCTGACTCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGC TGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTG ACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	276	0.0036	424	c.535 others(441): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGAGTCAGCCTTTGGTCTCG GGGGCGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGGC GTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(417): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGG CTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTG ACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0004 a0008c0036t0004	a0008c0036t0004g0063 a0008c0036t0004g0063	1	276	0.0036	424	c.535 others(441): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCA CGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGG GGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGC GTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(417): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGC TGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTG ACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp2 HG02300.hp2 others(1): Show HG01069.hp1 HG01261.hp2 HG02300.hp2 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0003c0029 a0001c0001 a0003c0002 a0003c0029	a0001c0001t0001 a0003c0002t0001 a0003c0029t0001 a0001c0001t0001 a0003c0002t0001 a0003c0029t0001	a0001c0001t0001g0066 a0001c0001t0001g0115 a0003c0002t0001g0059 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0115 a0003c0002t0001g0059 a0003c0029t0001g0132	4	276	0.0145	424	c.535 others(441): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCA CGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGG GGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGC GTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(417): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGCGA GACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGAC CAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCA AAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAG GCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGAC CCCCCGCGAGACCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0002 a0001c0053t0002	a0001c0053t0002g0148 a0001c0053t0002g0148	1	276	0.0036	424	c.535 others(441): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCG CGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGGTCAGCCTTTGGTCTCG GGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGG GCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRE2_chr19_14727392_14783560	14780543	G G	GGTTTCAC others(417): Show GGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCC CCCCCTCGGCCTCCCAAAGTCCAGGGATTACAGGCGTGAGCCATCGTGCC TGGCCCTGAAACACTCTTACCCTGAATAACCTCAGGGTTCACTCCCTTCT CTCTTCAGTTTTTGGCTGAAACATCTTTTGACCTACACGCCTCATCCAAA ATGTAAACTCCTCCCATCCTCAGCACTCCGAAACCCTTCTTGGCTTTTTT TTCAGATGAAGTCTCACTCTGTCACTTATGCTGCTGGAGTGCAGTGACTT GATCTCGGCTCAGTGCAAGCTCCCAGGTTCAAGTGATTCTTCTGCCTCAG CCTCCCAAGCAGCTGGGATTACAGGCACGCAACCACCGTGCCTAGCTAGT TTTTTGTATTTTTAGTAGAGACAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG01433.hp2 others(23): Show HG01081.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG02145.hp1 HG02257.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0009 a0021 a0029 a0030 a0031 a0034 a0037 a0039	a0001c0001 a0001c0008 a0001c0011 others(13): Show a0001c0001 a0001c0008 a0001c0011 a0001c0020 a0002c0002 a0003c0003 a0003c0013 a0004c0004 a0009c0015 a0021c0058 a0029c0045 a0030c0060 a0031c0036 a0034c0024 a0037c0061 a0039c0059	a0001c0001t0001 a0001c0008t0017 a0001c0011t0009 others(16): Show a0001c0001t0001 a0001c0008t0017 a0001c0011t0009 a0001c0011t0028 a0001c0020t0009 a0002c0002t0054 a0003c0003t0013 a0003c0013t0013 a0003c0013t0027 a0004c0004t0016 a0004c0004t0049 a0009c0015t0048 a0021c0058t0044 a0029c0045t0009 a0030c0060t0009 a0031c0036t0053 a0034c0024t0001 a0037c0061t0045 a0039c0059t0028	a0001c0001t0001g0120 a0001c0008t0017g0127 a0001c0008t0017g0136 others(23): Show a0001c0001t0001g0120 a0001c0008t0017g0127 a0001c0008t0017g0136 a0001c0011t0009g0128 a0001c0011t0028g0125 a0001c0020t0009g0115 a0001c0020t0009g0130 a0002c0002t0054g0134 a0003c0003t0013g0131 a0003c0003t0013g0132 a0003c0003t0013g0216 a0003c0013t0013g0116 a0003c0013t0027g0138 a0003c0013t0027g0139 a0004c0004t0016g0122 a0004c0004t0016g0123 a0004c0004t0016g0124 a0004c0004t0049g0113 a0009c0015t0048g0135 a0021c0058t0044g0114 a0029c0045t0009g0121 a0030c0060t0009g0129 a0031c0036t0053g0137 a0034c0024t0001g0119 a0037c0061t0045g0133 a0039c0059t0028g0126	26	218	0.1193	424	c.-24 others(435): Show c.-2459_-2458insTCTGTCTCTACTAAAAATACAAAAAACTAGCTAG GCACGGTGGTTGCGTGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAG AAGAATCACTTGAACCTGGGAGCTTGCACTGAGCCGAGATCAAGTCACTG CACTCCAGCAGCATAAGTGACAGAGTGAGACTTCATCTGAAAAAAAAGCC AAGAAGGGTTTCGGAGTGCTGAGGATGGGAGGAGTTTACATTTTGGATGA GGCGTGTAGGTCAAAAGATGTTTCAGCCAAAAACTGAAGAGAGAAGGGAG TGAACCCTGAGGTTATTCAGGGTAAGAGTGTTTCAGGGCCAGGCACGATG GCTCACGCCTGTAATCCCTGGACTTTGGGAGGCCGAGGGGGGGATCACAA GGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAC	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding		1984		chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(417): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCC CTTCCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTC CTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0036 a0004c0013t0036	a0004c0013t0036g0015 a0004c0013t0036g0015	1	262	0.0038	424	c.106 others(443): Show c.1061+3845_1061+3846insGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGG GAGGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGG GGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(417): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTTC CTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCT TCCTTCTTTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0033 a0005c0011t0033	a0005c0011t0033g0077 a0005c0011t0033g0077	1	262	0.0038	424	c.106 others(443): Show c.1061+3845_1061+3846insGGGAGGGAGGGAAGGAAAAGAAGGAA GGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGG AAGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGA AAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAG AAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGAAGG AAGGGAGGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGG AAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATACGTA others(417): Show TATACGTATACGTGTACACACATATATATACACGTATATATACGTATACG TGTACACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACATACA CGTATATACGTATACGTGTACACACATATACGTATACGTGTACACACATA TACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATA CACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0077 a0001c0002t0034g0077	1	169	0.0059	424	c.48- others(441): Show c.48-70577_48-70576insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACATACACGTATATACGTATACGTGTACACACATATA CGTATACGTGTACACACATATACACGTCTACGTGTACACACATATACACG TCTACGTGTACACACATATACACGTCTACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	391340	C C	CGGGCGCA others(417): Show CGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC GGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACG GGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG GCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGAGGCGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGC CAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAG AGCGTGCACGGGCGCAGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18906.hp2 HG02809.hp2 NA18906.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0023 a0004c0003t0009 a0004c0003t0023	a0004c0003t0009g0233 a0004c0003t0023g0228 a0004c0003t0009g0233 a0004c0003t0023g0228	2	268	0.0075	424	c.351 others(443): Show c.351+14640_351+14641insGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCG TGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGT GCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(417): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACGTACATATTTATACATATATGTAT AAATACGTACATATTTATACATATATGTATAAATACATATACATATTTAT ACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0027 a0001c0001t0104g0027	1	256	0.0039	424	c.39 others(433): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATGTATAAATACGTACATATTTATACATATATGTATAAATACGTACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144687000	C C	CGAGCACT others(417): Show CGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACC CCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAG CGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCC CACCCCGTGACCACACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	246	0.0041	424	c.-13 others(435): Show c.-1397_-1396insACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAG TGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1155		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687357	C C	CGAGCACT others(417): Show CGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACC CCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTAGTGGTGAGCACTTCCCACCCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACATTTACAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	246	0.0041	424	c.-17 others(435): Show c.-1754_-1753insACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGG AAGTGCTCACCACTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTA GTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAG TGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1512		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687515	C C	CGTGACCA others(417): Show CGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACT GGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCA CACATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGT GACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0001 a0001c0005t0010g0001	1	246	0.0041	424	c.-19 others(435): Show c.-1912_-1911insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1670		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687637	G G	GGTGAGCA others(417): Show GGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGAC CACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTC CCACCCCCGTGACCACACACCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	246	0.0041	424	c.-20 others(435): Show c.-2034_-2033insTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGT GTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGG GTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1792		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687793	A A	ACCCCGTG others(417): Show ACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGG CGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACAC TGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	246	0.0041	424	c.-21 others(435): Show c.-2190_-2189insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1948		chr8	TogoVar
ASH1L_chr1_155330268_155567803	155444916	C C	CTTGTTTG others(417): Show CTTGTTTGTTTGTTCTTTAAAGGGACGGAGTCTGGCTCTGTTGTCCAAGC TGGAGTGTGACAGCAGAATCACAGCTCACTGCAGCATCCACCTCCTAGGC TCAAGGGATTCTTACATGTCAGCCTCCCACGTAACTGGGACTACAGGCAT GAGACAGGACACTTGGCTAATTTTTCTATTTTTTTTTTTTTTTTTTTTTA GAGACAGGGTCTCACTATGCTGCCCAGGCTGGTTTCCAACTCCTGGGCTC AAGTGATTATCCGGCCACATCCTCCCTAAGTGTTTTTTTTCATAGACAGA GTATTGCTTCAATGATCCTCTAGCCTCAGCCTCCCAAAGTGTTGAGCTTA CAGGCATGAGCCACCAAGCGCAAGTCTAGCCTTAAATAACGTTTTTTTGA AAAGCAAAAGTCTTAAAGTTTGATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0007 a0004c0004t0004g0007	1	182	0.0055	424	c.508 others(443): Show c.5087-5849_5087-5848insTATCAAACTTTAAGACTTTTGCTTTT CAAAAAAACGTTATTTAAGGCTAGACTTGCGCTTGGTGGCTCATGCCTGT AAGCTCAACACTTTGGGAGGCTGAGGCTAGAGGATCATTGAAGCAATACT CTGTCTATGAAAAAAAACACTTAGGGAGGATGTGGCCGGATAATCACTTG AGCCCAGGAGTTGGAAACCAGCCTGGGCAGCATAGTGAGACCCTGTCTCT AAAAAAAAAAAAAAAAAAAAATAGAAAAATTAGCCAAGTGTCCTGTCTCA TGCCTGTAGTCCCAGTTACGTGGGAGGCTGACATGTAAGAATCCCTTGAG CCTAGGAGGTGGATGCTGCAGTGAGCTGTGATTCTGCTGTCACACTCCAG CTTGGACAACAGAGCCAGACTCCGTCCCTTTAAAGAACAAACAAACAA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27			chr1	TogoVar
ASMTL_chrX_1398139_1457909	1449723	C C	CCATCACC others(417): Show CCATCACCAGTAACTATCCCCCATCACCAGTAACTATGCCCCATCATCAC CAGTAACTATCCCCCCATCACCAGTAACTATCTCCCATCAACAGTAACTA TCCTCCCATCACCAGTAACTATCCCCACATCACCAGTAACTACCCCCATC ACCAATAACTATGCCCCATCATCAAACCCAGTAACTACCCCCCATCACCA GTAACTATCCACCATCACCAGTAACTATCCCCCATCACCAGTAACTATGC CCCATCATCACCAGTAACTATCCCCCCATCACCAGTAACTATCTCCCATC AACAGTAACTATCCTCCCATCACCAGTAACTATCCCCACATCACCAGTAA CTATCCCCCATCACCAGTAACTATGCCCCATCATCAAACCCAGTAACTAC CCCCCATCACCAGTAACTATCCCCA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18988.hp1 NA19011.hp1 NA18950.hp1 NA18988.hp1 NA19011.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142	3	185	0.0162	424	c.93+ others(439): Show c.93+3024_93+3025insTGGGGATAGTTACTGGTGATGGGGGGTAGT TACTGGGTTTGATGATGGGGCATAGTTACTGGTGATGGGGGATAGTTACT GGTGATGTGGGGATAGTTACTGGTGATGGGAGGATAGTTACTGTTGATGG GAGATAGTTACTGGTGATGGGGGGATAGTTACTGGTGATGATGGGGCATA GTTACTGGTGATGGGGGATAGTTACTGGTGATGGTGGATAGTTACTGGTG ATGGGGGGTAGTTACTGGGTTTGATGATGGGGCATAGTTATTGGTGATGG GGGTAGTTACTGGTGATGTGGGGATAGTTACTGGTGATGGGAGGATAGTT ACTGTTGATGGGAGATAGTTACTGGTGATGGGGGGATAGTTACTGGTGAT GATGGGGCATAGTTACTGGTGATGGGGGATAGTTACTGGTGATG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTGCCC others(417): Show TCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCT TCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCC CCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCTTTCCCCCTTCCCCCCT TCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCT TCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCT TCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTC CTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCT GCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCC CCCTTCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	420	0.0024	424	c.910 others(439): Show c.910-574_910-573insGCCCCCTTCCCCCTTGCCCCCTTCTCCCCT TCCTTCCTTCCTTCCTTCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCC CCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCT TTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTC CCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCC CCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTC CCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCC TCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCT TCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BRF1_chr14_105204286_105306001	105276667	C C	CGGCCCTC others(417): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCTGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGA GAAGGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAG TGAGAAGGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCA CAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGG CCACAGTGAGAAGGAGCCGAGAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG02257.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0067 a0001c0001t0002g0068	2	72	0.0278	424	c.266 others(441): Show c.266-3774_266-3773insCCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCAGCTCCTTCTCACTGTGG CCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTG TGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCA CTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCAGCTCCTTC TCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCC TTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGC TCCTTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTC GGCTCCTTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276945	G G	AGAGCTGG others(417): Show AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGGGGCCCTCAC TAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGGGGCCCT CACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGC CCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGC GGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGA GGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCG AGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAG CCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAG GAGCCGAGAGGGGGCCCTCACTAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp2 HG02818.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0065 a0001c0002t0005g0061 a0001c0001t0003g0065 a0001c0002t0005g0061	2	72	0.0278	424	c.266 others(441): Show c.266-4051_266-4050insCTAGTGAGGGCCCCCTCTCGGCTCCTTC TCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCC TTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGC TCCTTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTC GGCTCCTTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCT CTCGGCTCCTTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCG CCTCTCGGCTCCTTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGG CCCCCTCTCGGCTCCTTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGA GGGCCCCCTCTCGGCTCCTTCTCACTGTGGCCTCCTCCCCAGCTCT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
C1QTNF12_chr1_1237453_1251722	1245105	C C	CCCCCACT others(417): Show CCCCCACTCATCTCCCTCCTCCCCCACTCCTCTGCCCTCCTCCCCCTTCC CCCTCCTCCCCCCACTCCTCTCCCCTCTTCCCCCGACTCCTTCCCCTACT CATCTCCCTCCTCCCCCACTCCTCTCCCCTCCTCTCCCACTCCTCCCCCT CCTCCCCCACTCCTCCCCCCACTGCTCTCCCCTCTTCCCCCCACTCCTCC CCCACTCCTCTCCCCTCCTTCTCCACTCCTCTCCCCTCCCACTCCTCCCC CACTCCTGTCCCCTCCTCCCCCCTCTTCCCCCTCCTCCCCCCACTCATCT CCCTCCTCCCCACTCCTCTCCCCTCTTCCTCCCACTCCCCCCACTCCTCC CCCACTCCTCTCCCCTCTTGCCCCCACTCCTCCCCCACTCCTTCCCCACT CCTCTCCTCTCTTCCCCCCACTCCT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18955.hp1 NA19012.hp2 NA18951.hp1 NA18955.hp1 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0104 a0002c0002t0002g0116 a0002c0002t0002g0050 a0002c0002t0002g0104 a0002c0002t0002g0116	3	328	0.0092	424	c.178 others(439): Show c.178-609_178-608insAGGAGTGGGGGGAAGAGAGGAGAGGAGTGG GGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGG AGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATG AGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGA GGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGG AGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGG GAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAG GGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAG GGGGAGGAGGGCAGAGGAGTGGGGGAGGAGGGAGATGAGTGGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
CACNA1I_chr22_39565753_39694735	39602014	T T	TTCCCTCC others(417): Show TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTC TCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTC TCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0004 a0008c0012t0004	a0008c0012t0004g0059 a0008c0012t0004g0059	1	236	0.0042	424	c.482 others(441): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCT TCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602014	T T	TTCCCTCC others(417): Show TTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTC TCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTC TCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0146 a0001c0019t0001g0146	1	236	0.0042	424	c.482 others(441): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(417): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	142	0.0070	424	c.244 others(443): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAG GGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(417): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATAAAATTATATATATAATTTTATATATAA AATTATATATATAATTTTATATATATAATTATATATATAATTTTATATAT ATAATTATATATATATAATTTTATATATATAATTATATATATATAATTTT ATATATATATAATTATATATAATTTTATATATATATAATTATATATATAA TTATATATATAATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	330	0.0030	424	c.907 others(439): Show c.907+283_907+284insATTATATATATAATTATATATATAATTATA TATATAATTATATATATATAAAATTATATATAATTATATATATATAAAAT TATATATATATAATTATATATATAAAATTATATATATATAATTATATATA TAAAATTATATATATAATTATATATATAAAATTATATATATAATTTTATA TATAAAATTATATATATAATTTTATATATATAATTATATATATAAAATTA TATATATAATTATATATATATAAAATTATATATATAATATATATATATAA TTATATATATAATATATATAATTATATATATATAATTATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAAATATATAATTATA TATATATAATTATATATATATAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(417): Show ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATAATTATATATATTTTTATATATATATAATTATATATAT ATATAATTATATATATAATTATATATATATTATATATATAATTATATATA TATATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATATAATTATATATATAATTTTATATATAT AATTATATATATAATTTTATATATATAATTATATATATAATTTTATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATATAATTAT ATATATAATTTTATATATATAAAATTATATATATAATTATATATATAATT ATATATATAATTTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0030 a0001c0009t0011g0033 a0001c0009t0011g0030 a0001c0009t0011g0033	2	330	0.0061	424	c.907 others(439): Show c.907+283_907+284insATTATATATATAAAATTATATATATAATTA TATATATAATTATATATATAATTTTATATATATAAAATTATATATATAAT TATATATATATAATTATATATATATAAAATTATATATATAATTATATATA TAAAATTATATATATAATTATATATATAAAATTATATATATAATTATATA TATAAAATTATATATATAATTATATATATATATAATTATATATATATAAA ATTATATATATAATTATATATATATAAAATTATATATATAATATATATAT ATAATTATATATATAATATATATATAATTATATATATAATTATATATATA TATAATTATATATATATAAAAATATATATAATTATATATATAAAATTATA TATATAATTATATATATATAAAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(417): Show ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATAATTATATATATTTTTATATATATATAATTATATATAT ATATAATTATATATATAATTATATATATATTATATATATAATTATATATA TATTATATATATAATTTTATATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATATATAATTATATATATAATTTTATATATATAA TTATATATATAATTTTATATATATAATTATATATATAATTTTATATATAT AATTATATATATAATTTTATATATATATAATTATATATATATAATTTTAT ATATAATTTTATATATATAAAATTATATATATAATTTTATATATATAATT ATATATATAATTTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0260 a0002c0004t0016g0260	1	330	0.0030	424	c.907 others(439): Show c.907+283_907+284insATTATATATATAAAATTATATATATAATTA TATATATAAAATTATATATATAATTTTATATATATAAAATTATATATAAA ATTATATATATATAATTATATATATATAAAATTATATATATAATTATATA TATAAAATTATATATATAATTATATATATAAAATTATATATATAATTATA TATATAAAATTATATATATAATTATATATATATATAATTATATATATATA AAATTATATATATAATTATATATATATAAAATTATATATATAATATATAT ATAATTATATATATAATATATATATAATTATATATATAATTATATATATA TATAATTATATATATATAAAAATATATATAATTATATATATAAAATTATA TATATAATTATATATATATAAAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(417): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCA CCTGCCACGGCCTACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	284	0.0035	424	c.411 others(441): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTC TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCR9_chr3_45881543_45908174	45890269	A A	ATATTTAT others(417): Show ATATTTATATAAATATATATATAACATATATATATATTTATATAAATATA TATATAACATATATATATATTTATATAAATATATATATAACATATATATA TATTTATATAAATATATATATAACATATATATTTATATAAATATATATAT AACATATATATATTTATATAAATATATATATAACATATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATATTTATATAAATATATATATAACATATATATATTTATATAAATA TATATATAACATATATATATTTATATAAATATATATATAACATATATATA TTTATATAAATATATATATAACATATATATATTTATATAAATATATATAT AACATATATATATTTATATAAATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0119 a0003c0004t0001g0119	1	424	0.0024	424	c.-29 others(441): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATAACATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2			chr3	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(417): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	388	0.0052	424	c.487 others(441): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFAP107_chr1_12741200_12768699	12762351	A A	AGGGGGTG others(417): Show AGGGGGTGCAGAAAGGTTGCACCTACCTTAGGGTCACTTTGGCACCTACT AAGTTCCTTCCTTAGTCATCCAAGTGTCCATGTAAGGATGCTGTCTTCCA TCCCAACTGAAAGTCAGAGCCTGACACAGGCTAAGTCCTCTATGTTTGTT GGATGAGTGAATGACAGGAGTTGAACAAATGAGTTGAATGAATGAATGAC AGGAGGAGGAGCCGGGGGTGCAGAAAGGTTGCACCTACCTTAGGGTCACT TTGGCACCTACTAAGTTCCTTCCTTAGTCATCCAAGTGTCCATGTAAGGA TGCTGTCTTCCATCCCAACTGAAAGTCAGAGCCTGACACAGGCTAAGTCC TCTATGTTTGTTGGATGAGTGGATGACAGGAGTTGAACAAATGAGTTGAA TGAATGAATGACAGGAGGAGGAGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0003 a0002c0002t0043g0003	1	336	0.0030	424	c.14 others(435): Show c.1487_*1488insTGCTGTCTTCCATCCCAACTGAAAGTCAGAGCCT GACACAGGCTAAGTCCTCTATGTTTGTTGGATGAGTGAATGACAGGAGTT GAACAAATGAGTTGAATGAATGAATGACAGGAGGAGGAGCCGGGGGTGCA GAAAGGTTGCACCTACCTTAGGGTCACTTTGGCACCTACTAAGTTCCTTC CTTAGTCATCCAAGTGTCCATGTAAGGATGCTGTCTTCCATCCCAACTGA AAGTCAGAGCCTGACACAGGCTAAGTCCTCTATGTTTGTTGGATGAGTGG ATGACAGGAGTTGAACAAATGAGTTGAATGAATGAATGACAGGAGGAGGA GCCGGGGGTGCAGAAAGGTTGCACCTACCTTAGGGTCACTTTGGCACCTA CTAAGTTCCTTCCTTAGTCATCCAAGTGTCCATGTAAGGA	CFAP107	ENSG00000157330.10	transcript	ENST00000614859.5	protein_coding	4/4	1488	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(417): Show GGGGAGGGGAAGGGGGAGGGCAGGGGGAGGGGGAAGGGGAGGGCAGGGGG AGGGGAGGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGAAGGGCAGGGGAGAGGGGAGGGGGACTGGAGGGG AGGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGG GAGGGGAAGGGGAAGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGA GGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAG GGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAGGGAAGGGGAAG GGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA AGGGGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	308	0.0033	424	c.637 others(439): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCC CTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCC TTCCCCTCCCATCCCCTTCCCCTCCCCTTCCTTCCCCTTCCCCTCCCCTC CCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCCTCCCCT CCAGTCCCCCTCCCCTCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCCTCCCCTCCCCC TGCCCTCCCCTTCCCCCTCCCCCTGCCCTCCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(417): Show GGAGGGGAGGGGGAGGGGAGGGGAAGGGTGAGGGCAGGGGGAGGGGAAGG GGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGG GGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	308	0.0033	424	c.637 others(439): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTGCCCTCACCCTTCCCCTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(417): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	223	0.0045	424	c.-42 others(435): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(417): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACT GGTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCA CATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	320	0.0031	424	c.-52 others(441): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTG TTTATAACTGGTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGG ACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL4A1_chr13_110143963_110312157	110201319	G G	GGGAGGAG others(417): Show GGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAG GAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAA GGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGG AGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAA GAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGA GGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGG AGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAG AAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGG GGAGGAGGAAGGAAGAGGAGGAACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03139.hp1 NA21309.hp1 HG01081.hp1 HG03139.hp1 NA21309.hp1	a0003 a0004 a0003 a0004	a0003c0038 a0004c0035 a0003c0038 a0004c0035	a0003c0038t0001 a0004c0035t0001 a0003c0038t0001 a0004c0035t0001	a0003c0038t0001g0196 a0003c0038t0001g0228 a0004c0035t0001g0103 a0003c0038t0001g0196 a0003c0038t0001g0228 a0004c0035t0001g0103	3	344	0.0087	424	c.108 others(441): Show c.1084+118_1084+119insTGTTCCTCCTCTTCCTTCCTCCTCCCCC TCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTC TTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCT CCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCC TTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTC CTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCC CCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTC TCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTC CTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(417): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0307 a0003c0012t0002g0307	1	344	0.0029	424	c.85- others(441): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTC CTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTG CCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970419	G G	GCTGTGGG others(417): Show GCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGGTAAGC GGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGGT GAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGGTAAGCGGGGGCTGTG GGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTAAGGTGAGTGGGGTC TGTGGGTGAGTGGGGTCTGTGGTTGACTGGGTGCTGTGGGGTGAGTGGGG TCTGTAGGTGAGTGGGGTCTGTGGGTGAGTGTGTTCTGTGGCTGAGTGGG GTCTGTGGGGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGTGAGT GGGGTCTGTGGTTGACTGGGGTCTGTGGGGTGAGTGGAATCTGTGGGTGA GTGGGGTCTGTGGGGTAAGCGGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG03453.hp1 others(2): Show HG02970.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp2 NA19043.hp1	a0027 a0035 a0027 a0035	a0027c0039 a0027c0059 a0035c0080 others(1): Show a0027c0039 a0027c0059 a0035c0080 a0035c0141	a0027c0039t0014 a0027c0059t0015 a0035c0080t0015 others(1): Show a0027c0039t0014 a0027c0059t0015 a0035c0080t0015 a0035c0141t0004	a0027c0039t0014g0182 a0027c0039t0014g0192 a0027c0059t0015g0183 others(2): Show a0027c0039t0014g0182 a0027c0039t0014g0192 a0027c0059t0015g0183 a0035c0080t0015g0110 a0035c0141t0004g0336	5	412	0.0121	424	c.393 others(441): Show c.3936+202_3936+203insTCCCCGCTTACCCCACAGACCCCACTCA CCCACAGATTCCACTCACCCCACAGACCCCAGTCAACCACAGACCCCACT CACCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGACCCC ACTCAGCCACAGAACACACTCACCCACAGACCCCACTCACCTACAGACCC CACTCACCCCACAGCACCCAGTCAACCACAGACCCCACTCACCCACAGAC CCCACTCACCTTACAGCCCCCACTCACCCCACAGACCCCACTCACCCCAC AGCCCCCGCTTACCCCACAGCCCCCACTCACCCCACAGACCCCACTCACC CCACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAGCCCCCGCT TACCCCACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89597875	A A	ACCCACCC others(417): Show ACCCACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCGT CCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCACCC ATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGT CCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCC GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCAC CCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCT GTCCACCCATCCGTCCACCCATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0010 a0001c0008t0002g0010	1	348	0.0029	424	c.12 others(435): Show c.1254_*1255insCCCACCCATCCCCCCACCCACCCATCCGTCCACC CATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATC CGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCA TCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTC CATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		630		chr16	TogoVar

Search by Variant

Search

Search Results