Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCB11_chr2_168915781_169036324	168975438	T T	TATAAATA others(393): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0008 a0002c0033t0008	a0002c0033t0008g0102 a0002c0033t0008g0102	1	306	0.0033	400	c.130 others(419): Show c.1308+1138_1308+1139insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(393): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAA TGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGG TGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02895.hp1 others(1): Show HG02109.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2	a0012 a0030 a0012 a0030	a0012c0025 a0012c0030 a0030c0046 a0012c0025 a0012c0030 a0030c0046	a0012c0025t0001 a0012c0030t0001 a0030c0046t0001 a0012c0025t0001 a0012c0030t0001 a0030c0046t0001	a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0274 others(1): Show a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0274 a0030c0046t0001g0304	4	357	0.0112	400	c.278 others(419): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCC ATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCC ATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTATCCATCCCACCTCATTTATGCATCCCACCCACTCAT TTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(393): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAA TGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGG TGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp2 HG02056.hp2 others(6): Show HG00597.hp1 HG01106.hp2 HG02056.hp2 HG03491.hp1 HG03492.hp2 NA18959.hp1 NA19000.hp2 NA19056.hp2 NA19084.hp2	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0034	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0002c0057 a0021c0079 a0034c0063	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0002c0057t0001 a0021c0079t0001 a0034c0063t0001	a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 others(6): Show a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0226 a0001c0004t0001g0208 a0001c0006t0001g0329 a0002c0057t0001g0255 a0021c0079t0001g0238 a0034c0063t0001g0170	9	357	0.0252	400	c.278 others(419): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCCC ACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCC ATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCC ATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTATCCATCCCACCTCATTTATGCATCCCACCCACTCAT TTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(393): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATG G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	357	0.0028	400	c.278 others(419): Show c.2787+1072_2787+1073insCCATTTATCCATCCCACCCACCCATT TAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATC CCACCCACTCATTTATCCATCCATCCCACCCATTTATCCATCCCACCCAC CCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAG CCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCA CCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCA TTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTA TCCATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCATCCCACC CACTCATTTATGCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACACB_chr12_109111587_109273226	109209972	C C	CACATATA others(393): Show CACATATATGTGTATATATGTGTATACACACACATATATGTGTATACACA CACATATATGTGTATATATACACACATACATGCATGTGTGTATATATGTG TATATATACACACATACGTATGTGTGTATATATGTGTATATATACACACA TACGTATGTGTGTATATATGTGTATATATACACACATACGTATGTGTGTA TATATGTGTATATATACACACATACGTATGTGTGTATATATGTGTATATA TACACACATACGTATGTGTGTATATATGTGTATATATGTATATATACGTA TATACACACACGTGTATATATACGTATATACACACACGTGTATATACGTA TATATACACATATATGTGTATATACACACGTACATATGTGTATATATGTG T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0016 a0001c0106 a0001c0016 a0001c0106	a0001c0016t0009 a0001c0106t0001 a0001c0016t0009 a0001c0106t0001	a0001c0016t0009g0305 a0001c0106t0001g0293 a0001c0016t0009g0305 a0001c0106t0001g0293	2	308	0.0065	400	c.324 others(417): Show c.3249+620_3249+621insCATATATGTGTATATATGTGTATACACA CACATATATGTGTATACACACACATATATGTGTATATATACACACATACA TGCATGTGTGTATATATGTGTATATATACACACATACGTATGTGTGTATA TATGTGTATATATACACACATACGTATGTGTGTATATATGTGTATATATA CACACATACGTATGTGTGTATATATGTGTATATATACACACATACGTATG TGTGTATATATGTGTATATATACACACATACGTATGTGTGTATATATGTG TATATATGTATATATACGTATATACACACACGTGTATATATACGTATATA CACACACGTGTATATACGTATATATACACATATATGTGTATATACACACG TACATATGTGTATATATGTGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCCCGTGT others(393): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	400	c.36 others(411): Show c.3635_*3636insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGGGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(393): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCCGCG AGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGAC CAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGC TGACCCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTG ACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCC CCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCC CCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCC G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0254 a0003c0003t0001g0254	1	276	0.0036	400	c.535 others(417): Show c.535-4850_535-4849insCGGGGGGGTCAGCCTTTGGTCTCGCGGG GGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGG GTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGT CAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGC CTTTGGTCTCGCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTG GTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCT CGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGGCGTCAGCCGTTGGTCTCG GGGGGGGTCAGCCTTTGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277913	C C	CGAGACCA others(393): Show CGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCCCCCGCGA GACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCCCGAGACC AAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAG GCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGCGAGACCAAAGGC TGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCC CCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCC CCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCC G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0179 a0001c0004t0002g0179	1	276	0.0036	400	c.535 others(417): Show c.535-4850_535-4849insCGGGGGGGGTCAGCCTTTGGTCTCGCGG GGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG GGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGG TCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGGTCAGC CTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTT GGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTC TCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCG GGGGGGGTCAGCCTTTGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1464424	C C	CCAGTCAC others(393): Show CCAGTCACAGCAGGCAGCGCGCCGGAGAAGAGGGTGGACACACACTCCCC CACACACATGCGCTGGGGGCAGTCACAGCGGGCAGTGCGCTGGAGAAGAG GGTGGACACACACTCCCCCACACACGCGCTGGGGACAGTCACAGCGGGCA GCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACATGCGCTGG GGGCAGTCACAGCGGGCAGTGCGCTGGAGAAGAGGGTGGACACACACTCC CCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAG GGTGGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGCGGGCA GTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGG A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0015 a0001c0001t0022g0015	1	106	0.0094	400	c.101 others(419): Show c.101-85265_101-85264insTCCCCAGCGCGTGTGTGGGGGAGTGT GTGTCCACCCTCTTCTCCGGCGCACTGCCCGCTGTGACTGCCCCCCGCGC GTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCACTG TGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCC AGCGCACTGCCCGCTGTGACTGCCCCCAGCGCATGTGTGTGGGGGAGTGT GTGTCCACCCTCTTCTCCAGCACGCTGCCCGCTGTGACTGTCCCCAGCGC GTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCGCACTGCCCGCTG TGACTGCCCCCAGCGCATGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCT CCGGCGCGCTGCCTGCTGTGACTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(393): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	188	0.0053	400	c.-1- others(415): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(393): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGG AGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAG GGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGG GGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGG G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0197 a0008c0015t0001g0197	1	350	0.0029	400	c.248 others(415): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCC TCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCC CTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTC CCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCAC CCATCCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCCCTCCCCTCCCC CTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACC TCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCAC CTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO3_chr11_26327130_26668289	26529099	T T	TATATATA others(393): Show TATATATATTATATAATATTATATAATATATAATAATATATAATATATAA TTATATAATATATTATTATATATTATATATTATTATATATTATATAATAT ATTATTATATAATAATATATAATATATTATAATATATATTATATATTATA TAATATATATTATATATTATATATATTATACATTATATAATATATATTAT ATATTATATATATTATATATTATATATATTATATATTATATAATATATAT TATTAATAATATATATTATATAATATATAATATATATTATATAATTATAT AATATATATTATATATTATATATATTATATATTATATAATAATATATAAT ATATATAATATATAATATATATTATATATTATATATATTATATATTATAT A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp1 NA18977.hp1 HG02083.hp2 HG02523.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0102 a0001c0004t0003g0165 a0001c0004t0003g0168 a0001c0001t0001g0102 a0001c0004t0003g0165 a0001c0004t0003g0168	3	190	0.0158	400	c.738 others(417): Show c.738-2095_738-2094insATAATATTATATAATATATAATAATATA TAATATATAATTATATAATATATTATTATATATTATATATTATTATATAT TATATAATATATTATTATATAATAATATATAATATATTATAATATATATT ATATATTATATAATATATATTATATATTATATATATTATACATTATATAA TATATATTATATATTATATATATTATATATTATATATATTATATATTATA TAATATATATTATTAATAATATATATTATATAATATATAATATATATTAT ATAATTATATAATATATATTATATATTATATATATTATATATTATATAAT AATATATAATATATATAATATATAATATATATTATATATTATATATATTA TATATTATATAATATATATTAT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1825108	C C	CCCGCACC others(393): Show CCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCAC CTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCC ACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACAC CCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTC A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02717.hp1 HG02895.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0007 a0009c0029t0041 a0009c0029t0007 a0009c0029t0041	a0009c0029t0007g0202 a0009c0029t0041g0201 a0009c0029t0007g0202 a0009c0029t0041g0201	2	363	0.0055	400	c.-48 others(415): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCC CCACACCCCACCTGTTCACC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049290	G G	GAGGGCAG others(393): Show GAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGA GGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAG GGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGG GGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGGAACAC ATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGGAACACATGGGGG GCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGG AACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	308	0.0033	400	c.54 others(411): Show c.5440_*5441insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCC CATGTGTTCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCCATGTGT TCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCTCCATGTGTTCCCCTC TGCCCTCCATGTGTTCCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCC ATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTC CCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGC CCTCCATGTGTTCCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATG TGTTCCCCTCTGCCCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2813		chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ACTCATTC others(393): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0021 a0021	a0021c0081 a0021c0081	a0021c0081t0001 a0021c0081t0001	a0021c0081t0001g0278 a0021c0081t0001g0278	1	300	0.0033	400	c.655 others(419): Show c.655-22337_655-22336insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG GGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B4GALNT3_chr12_454939_568509	529677	C C	CTCGGTAA others(393): Show CTCGGTAAAGGTGAGCTGCTATGAATATTGCCATTATTACAACTACTTAG GAGCAAAAGCAATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGCTGCT ATGAATATTGCCATTATTACAACTACTTAGGAGCAAAAGCAATACATCCT GCCGTGTACCTTCGGTAAAGGTGAGCTGCTATGAATATTGCCATTATTAC AACTACTTAGGAGCAAAAGCAATACATCCTGCCGTGTACCTTCGGTAAAG GTGAGCTGCTATGAATATTGCCATTATTACAACTACTTAGGAGCAAAAGC AATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGCTGCTATGAATATTG CCATTATTACAACTACTTAGGAGCAAAAGCAATACATCCTGCCGTGTACC T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0313 a0003c0004t0016g0313	1	394	0.0025	400	c.170 others(417): Show c.170-5112_170-5111insGCAATACATCCTGCCGTGTACCTTCGGT AAAGGTGAGCTGCTATGAATATTGCCATTATTACAACTACTTAGGAGCAA AAGCAATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGCTGCTATGAAT ATTGCCATTATTACAACTACTTAGGAGCAAAAGCAATACATCCTGCCGTG TACCTTCGGTAAAGGTGAGCTGCTATGAATATTGCCATTATTACAACTAC TTAGGAGCAAAAGCAATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGC TGCTATGAATATTGCCATTATTACAACTACTTAGGAGCAAAAGCAATACA TCCTGCCGTGTACCTTCGGTAAAGGTGAGCTGCTATGAATATTGCCATTA TTACAACTACTTAGGAGCAAAA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
C20orf96_chr20_265863_295750	278958	G G	GGGAGGGA others(393): Show GGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGG GAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGC GGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGG GAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGC GGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACG GAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGA GGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGA C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	410	0.0024	400	c.465 others(415): Show c.465+213_465+214insGTCCCGCCCTCCCTCCGTCCCGCCCTCCCG CCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCC CTCCCGCCCTCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACC CTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCG CCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCG CCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145533	A A	AATATATT others(393): Show AATATATTATATTATATAATGATATATAATATATTATATTATATAATGAT ATATAATATATTATATTATATAATGATATATAATATATTATATTATATAA TGATATATAATATATTATATTATATAATGATATATAATATATTATATTAT ATAATGATATATAATATATTATATTATATAATGATATATAATATATTATA TTATATAATGATATATAATATATTATATTATATAATGATATATAATATAT TATATTATATAATGATATATAATATATTATATTATATAATGATATATAAT ATATTATATTATATAATGATATATAATATATTATATTATATAATGATATA TAATATATTATATTATATAATGATATATAATATATTATATTATATAATGA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0032 a0002c0006t0002g0032	1	398	0.0025	400	c.40 others(411): Show c.4006_*4007insATCATTATATAATATAATATATTATATATCATTA TATAATATAATATATTATATATCATTATATAATATAATATATTATATATC ATTATATAATATAATATATTATATATCATTATATAATATAATATATTATA TATCATTATATAATATAATATATTATATATCATTATATAATATAATATAT TATATATCATTATATAATATAATATATTATATATCATTATATAATATAAT ATATTATATATCATTATATAATATAATATATTATATATCATTATATAATA TAATATATTATATATCATTATATAATATAATATATTATATATCATTATAT AATATAATATATTATATATCATTATATAATATAATATATTATATATCATT ATATAATATAATATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3472		chr22	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(393): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGG GCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGT C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG01346.hp1 HG01891.hp2	a0008 a0008	a0008c0022 a0008c0023 a0008c0022 a0008c0023	a0008c0022t0001 a0008c0023t0001 a0008c0022t0001 a0008c0023t0001	a0008c0022t0001g0316 a0008c0023t0001g0317 a0008c0022t0001g0316 a0008c0023t0001g0317	2	326	0.0061	400	c.144 others(417): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(393): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCC TCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTC CCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCC TCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCC TCCTCTCCCTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCCTCCCCTCC T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	118	0.0085	400	c.255 others(417): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCTCCCCTCCTCTCCT ATCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTCCCTT CCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54970510	C C	CCTCTCCT others(393): Show CCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCC CTTCCCCTCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCC CCTTCCCTCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCC TCTCCTCCCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTT CTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCC CCTCCCCTCCTCTCCCCTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCC TCCCCTCCTTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTC T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0108 a0001c0015t0001g0108	1	118	0.0085	400	c.255 others(417): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTCTCT TCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTCCCC CGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACC CCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCC TATCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTCCCT TCCCCTCCCCTCCCCTCCTCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(393): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATAAAATTATATATATAATTTTATATATAA AATTATATATATAATTTTATATATATAATTATATATATAATTTTATATAT ATAATTATATATATATAATTTTATATATATAATTATATATATATAATTTT ATATATATATAATTATATATAATTTTATATATATATAATTATATATATAA T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01074.hp2 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0255 a0002c0002t0002g0117 a0002c0002t0002g0255	2	330	0.0061	400	c.907 others(415): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATAATTATATA TATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTA TATATATAATTATATATATAAAATTATATATATAATTATATATATATAAA ATTATATATATAATATATATATATAATTATATATATAATATATATAATTA TATATATATAATTATATATAATTATATATATATAAAATTATATATATAAT TATATATATAAAAATATATAATTATATATATATAATTATATATATATAAT TATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(393): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATATAAAATTATATATATAATTTTATATAT AAAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATAATTATATATATATAATTTTATATATATAATTATATATATATAATT TTATATATATAATTATATATAATTTTATATATATATAATTATATATATAA T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	330	0.0030	400	c.907 others(415): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATAAAATTATATATATATAATTATATATATAAA ATTATATATATATAATTATATATATAAAATTATATATATAATTATATATA TAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTATA TATATATAATTATATATATAAAATTATATATATAATTATATATATATAAA ATTATATATATAATATATATATATAATTATATATATAATATATATAATTA TATATATATAATTATATATAATTATATATATATAAAATTATATATATAAT TATATATATAAAAATATATAATTATATATATATAATTATATATATATAAT TATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44182125	A A	ACACACAC others(393): Show ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACTCACATACAGACACAACCACACCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACACACTCACATACAGACACAACCACACCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03239.hp2 HG01361.hp2 HG03239.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0002 a0011c0013t0002	a0011c0013t0002g0148 a0011c0013t0002g0149 a0011c0013t0002g0148 a0011c0013t0002g0149	2	460	0.0044	400	c.193 others(417): Show c.1939-810_1939-809insCACTCACATACAGACACAACCACACCAC ACTCACACACACACACACTCACATACAGACACAACCACACCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACACACTCACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACACAACCACACCACACTC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(393): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTC T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	256	0.0039	400	c.-45 others(421): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61444267	G G	GTGTCTCC others(393): Show GTGTCTCCGTGTGTCTTTGTGTGTGTATATGTGTGTTTGTGTATCTGTGT ATGAGTCTTTGTGTGTGTTTCTGTGTATCTGTGTGTGTCCATGTCTATGT GTGTCTGTGTGTGTATGTATGTCTGGGTGTATATCTGTGTGTGTGTCTTT GCGTTCACCTGTGTGTGTGTGCATCTGTGTGTACATTTGTGTGTTTCTGC ATGTGTGTGTCTGCGTACATCTGTGTCTGTGTGTATATTTGTGTATCCGT ATGTATGTGTATCTGTGTGTGTCTTTGTGTACATCCGTGTCTGTGTGTAT ATTTGTATCTGTGTGTTTCTCTGTGTGCATCTGTGTATATTTGTGAGTTT CTGCATGTGTGTGTGTCTGTGTGTGTGTCTGTGTATCTATTTGTATGTAT C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0027 a0001c0010t0001g0027	1	106	0.0094	400	c.169 others(421): Show c.169+189333_169+189334insCTCCGTGTGTCTTTGTGTGTGTAT ATGTGTGTTTGTGTATCTGTGTATGAGTCTTTGTGTGTGTTTCTGTGTAT CTGTGTGTGTCCATGTCTATGTGTGTCTGTGTGTGTATGTATGTCTGGGT GTATATCTGTGTGTGTGTCTTTGCGTTCACCTGTGTGTGTGTGCATCTGT GTGTACATTTGTGTGTTTCTGCATGTGTGTGTCTGCGTACATCTGTGTCT GTGTGTATATTTGTGTATCCGTATGTATGTGTATCTGTGTGTGTCTTTGT GTACATCCGTGTCTGTGTGTATATTTGTATCTGTGTGTTTCTCTGTGTGC ATCTGTGTATATTTGTGAGTTTCTGCATGTGTGTGTGTCTGTGTGTGTGT CTGTGTATCTATTTGTATGTATCTGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(393): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02818.hp2 others(5): Show HG02280.hp1 HG02559.hp1 HG02818.hp2 NA18988.hp1 NA18994.hp2 NA19002.hp1 NA19009.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0024 a0002c0002 a0002c0003 others(1): Show a0001c0024 a0002c0002 a0002c0003 a0002c0019	a0001c0024t0005 a0002c0002t0003 a0002c0002t0091 others(3): Show a0001c0024t0005 a0002c0002t0003 a0002c0002t0091 a0002c0003t0001 a0002c0003t0004 a0002c0019t0012	a0001c0024t0005g0216 a0002c0002t0003g0003 a0002c0002t0003g0208 others(5): Show a0001c0024t0005g0216 a0002c0002t0003g0003 a0002c0002t0003g0208 a0002c0002t0091g0299 a0002c0003t0001g0135 a0002c0003t0004g0211 a0002c0019t0012g0128 a0002c0019t0012g0134	8	334	0.0240	400	c.-25 others(411): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(393): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0076 a0001c0001t0013g0076	1	334	0.0030	400	c.-25 others(411): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(393): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0093 a0002c0012t0004g0093	1	334	0.0030	400	c.-25 others(411): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(393): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0193 a0002c0002t0003g0193	1	334	0.0030	400	c.-25 others(411): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(393): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	334	0.0030	400	c.-25 others(411): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(393): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0161 a0004c0005t0002g0161	1	334	0.0030	400	c.-25 others(411): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24882020	C C	CTAGATAG others(393): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	440	0.0023	400	c.11 others(411): Show c.1156_*1157insTATAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTA GATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTA TCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		258		chr13	TogoVar
CEP72_chr5_607340_658553	650897	G G	GACTGTGA others(393): Show GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTG TGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGA CTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTG T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	91	0.0110	400	c.177 others(419): Show c.1779-2091_1779-2090insACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCGTGGACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20356953	T T	TACTGTGA others(393): Show TACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAG TCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTG AAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGT CACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01993.hp1 NA20129.hp2 HG01168.hp1 HG01993.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0088 a0002c0002t0001g0111 a0002c0004t0001g0205 a0002c0002t0001g0088 a0002c0002t0001g0111 a0002c0004t0001g0205	3	236	0.0127	400	c.351 others(419): Show c.3514-3256_3514-3255insCTGTGAGTGAGGAGGTAGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGC GAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHSY1_chr15_101170727_101257048	101185412	A A	ACCCTCCA others(393): Show ACCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCTCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAAC GCCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCTCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCCCCTTCCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACGCCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAAC G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02258.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0037 a0001c0005t0025 a0001c0004t0037 a0001c0005t0025	a0001c0004t0037g0028 a0001c0005t0025g0049 a0001c0004t0037g0028 a0001c0005t0025g0049	2	422	0.0047	400	c.817 others(417): Show c.817-6433_817-6432insCGTTCACAGGGAAGGAGGATGGAGGGTG CTCCATGGAGGGCGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG AGTGTTCACAGGGAAGGGGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGAGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGG ATGGAGGGTGCTCCATGGAGGGCGTTCACAGGGAAGGAGGATGGAGGGTG CTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG GGCGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGGGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGG ATGGAGGGTGCTCCATGGAGGG	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	CGTATATA others(393): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACG T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	372	0.0027	400	c.894 others(415): Show c.894+708_894+709insCGTATATACACACGTATATGAGTATATATA CGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGTA TATGAGTATATATACGTGTATATACACACGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(393): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACA C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	372	0.0027	400	c.894 others(415): Show c.894+707_894+708insGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACGT ATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATAC GTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACAT GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575583	T T	TGTGTGTA others(393): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACA CGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATATA C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	372	0.0027	400	c.894 others(415): Show c.894+687_894+688insGTATATGAGTATATATACGTGTATATACAC ACGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACAT GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CMIP_chr16_81439808_81716762	81704325	T T	TCTCCTCC others(393): Show TCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCC TGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTC CCCCTCCTCCCTGCCCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCT GCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCAC CCTCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCC TGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTC CCCCTCCTCCCTGCCCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCT GCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCAC C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01255.hp2 others(8): Show HG01070.hp2 HG01071.hp1 HG01255.hp2 HG01515.hp1 HG02004.hp1 HG02027.hp2 HG02074.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0043	a0001c0001t0001g0049 a0001c0001t0001g0099 a0001c0001t0001g0130 others(8): Show a0001c0001t0001g0049 a0001c0001t0001g0099 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0208 a0001c0001t0002g0248 a0001c0001t0010g0257 a0001c0005t0043g0252	11	268	0.0410	400	c.209 others(417): Show c.2091+475_2091+476insCTTACTCTCCTCCCTGCCCCTTCACCCT CCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGC CCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTC CTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCC CCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCT CCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGC CCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTC CTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCC ACTCACCCTCCTCCCTGCCCCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(393): Show CAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGA AGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGA GGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAG GGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGG GGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGA GGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGG A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02080.hp1 HG02083.hp2 others(13): Show HG01934.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 NA18944.hp2 NA18953.hp1 NA18957.hp2 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18991.hp2 NA18997.hp2 NA19004.hp2 NA19012.hp2 NA19088.hp1 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0010 a0007c0012 a0001c0001 a0001c0010 a0007c0012	a0001c0001t0001 a0001c0010t0001 a0007c0012t0001 a0001c0001t0001 a0001c0010t0001 a0007c0012t0001	a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 others(13): Show a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0010t0001g0269 a0007c0012t0001g0228	16	308	0.0520	400	c.637 others(415): Show c.637+150_637+151insTCCCCTCCCCTCCCCTTCCCCTCCCCTCCC CTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCC CTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCC CTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCT CCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTC CCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCC CCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCC CCTCCCCCTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(393): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0002 a0001c0012t0001g0002	1	223	0.0045	400	c.-42 others(411): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(393): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATACATATGATATATATGATATA TATATGATACAAATGATATATATGATATATATGATATATATCAGATATAT ATATCATATATATCATATATATCATTTGTATCATATATATATCATATATA TCATATGTATCATATATATCATATATATCATATATATCATATATATCATA TATGTATTCATATATATCATATATATTCATATATAATATATATTCATATA TCATATATATTCATATATATCATATATATTCATATATATATCATATATAT TCATATATATCATATATATTCATATATATATCATATATATTCATATATAT C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02897.hp1 HG02572.hp2 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0006 a0002c0009 a0002c0006 a0002c0009	a0002c0006t0003 a0002c0009t0004 a0002c0006t0003 a0002c0009t0004	a0002c0006t0003g0065 a0002c0006t0003g0066 a0002c0009t0004g0168 a0002c0006t0003g0065 a0002c0006t0003g0066 a0002c0009t0004g0168	3	182	0.0165	400	c.267 others(417): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAC ATATGATATATATGATATATATATGATACAAATGATATATATGATATATA TGATATATATCAGATATATATATCATATATATCATATATATCATTTGTAT CATATATATATCATATATATCATATGTATCATATATATCATATATATCAT ATATATCATATATATCATATATGTATTCATATATATCATATATATTCATA TATAATATATATTCATATATCATATATATTCATATATATCATATATATTC ATATATATATCATATATATTCATATATATCATATATATTCATATATATAT CATATATATTCATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
CTDP1_chr18_79674803_79759503	79687253	T T	TCAGTTCA others(393): Show TCAGTTCACTGGTAGGCCTGCACCAGAGCAGTTGGCTTCTCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTG CACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCG TCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGACTTCG C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0095 a0001c0042t0001g0095	1	378	0.0027	400	c.314 others(417): Show c.314+7004_314+7005insAGGCCTGCACCAGAGCAGTTGGCTTCTC CAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTG GTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGC ACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAG TTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTC CAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTG GTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGC ACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAG TTGACTTCGCCAGTTCACTGGT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(393): Show GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGACTTC GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC A	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18940.hp2 NA18955.hp2 others(3): Show HG02132.hp1 NA18940.hp2 NA18955.hp2 NA18990.hp2 NA19004.hp1 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0067 a0001c0003t0001g0068 others(3): Show a0001c0003t0001g0025 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071	6	378	0.0159	400	c.314 others(417): Show c.314+7096_314+7097insGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGACTTCGCCA GTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCACCA GTTCACTGGTGGGCCTGCACCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(393): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATACACACATATATGTGTACATATATGTGTGTATATGTGTGTGTA TATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	400	c.19 others(411): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATACACACACATATACACACATATATGTACACAT ATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACACAT ATATGTATATATACACACATATACACACATATATGTACACATATATATGT GTATATACATATATACACATATATATGTGTATATACATATATACACATAT ATGTACACATATATATGTGTATATACATATATACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATGTACACATATATATGTGT ATATACATATATACACATATATGTACACATATATATGTGTATATACATAT ATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(393): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATACACACATATATGTGTACATATATGTGTGTATATGTGTGTGTA TATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	400	c.19 others(411): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTATATATGTATATACACATATATATGTGTACAT ATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTATAT ACACATGTGTATATACGTATATACACACATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACGTATATACACATGT GTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878390	T T	TATAAATA others(393): Show TATAAATATATAAATATATATAAATATATATAAATATATATATAAATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATAAATATATATAAATATA TATAAATATATATATAAATATATAAATATATATAAATATATATAAATATA TAAATATATATAGAAATATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATAAATATATAAATATATATATAAATATATAAATA TATATAAATATATGTAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	208	0.0048	400	c.192 others(419): Show c.1923+3760_1923+3761insTAAATATATAAATATATATAAATATA TATAAATATATATATAAATATATAAATATATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATAAATATATATAAATATATATAAATATATATATAAATATATAAATA TATATAAATATATATAAATATATAAATATATATAGAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATAAATATATATAAATATATGTAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP2C19_chr10_94757681_94860547	94824979	C C	CATGAACT others(393): Show CATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGT GCCACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAAT TCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGAT AGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGA T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp1 others(8): Show HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01891.hp2 HG02015.hp2 HG02735.hp1 HG02818.hp1 HG03491.hp1 NA18977.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0294 others(8): Show a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0298 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0315 a0001c0001t0003g0326 a0001c0001t0003g0329 a0001c0001t0024g0296	11	364	0.0302	400	c.961 others(417): Show c.961+4404_961+4405insTTTTTTTTTTTTTTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGT TCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTT	CYP2C19	ENSG00000165841.11	transcript	ENST00000371321.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP4F11_chr19_15907377_15939529	15931845	G G	GAGAGGAA others(393): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGCGAGGAGAAGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAG A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0104 a0001c0005t0104	a0001c0005t0104g0121 a0001c0005t0104g0121	1	386	0.0026	400	c.199 others(417): Show c.199-2245_199-2244insTCTCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCTTCTCCTCGCTCACTCATTCCT CTTCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)