JoGo: Joint Open Genome and Omics Platform

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 (≤).

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⚠️ 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
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(396): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATGTGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATACATATCACATATATCATATATATCATACAT ATCACATATATCATATATATCATACATATCACATATATGATATATATCAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	350	0.0029	403	c.-36 others(414): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATGTGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATACATATCACATATATC ATATATATCATACATATCACATATATCATATATATCATACATATCACATA TATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(396): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATAATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	350	0.0029	403	c.-34 others(414): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATAATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATATCATATATATGATATATATCATATATCATA TATATGATATATATCACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(397): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAGATATATCAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	306	0.0033	404	c.130 others(423): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATCTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(397): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01346.hp2 NA19064.hp2 HG00741.hp2 HG01346.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0001t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0253 a0001c0002t0002g0251 a0001c0002t0005g0254 a0001c0001t0001g0253 a0001c0002t0002g0251 a0001c0002t0005g0254	3	306	0.0098	404	c.130 others(423): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCACC others(397): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGGGGGG CTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18970.hp2 NA18974.hp2 others(3): Show HG00544.hp2 NA18970.hp2 NA18974.hp2 NA19007.hp2 NA19079.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0008 a0001c0001t0002 a0001c0006t0008	a0001c0001t0002g0216 a0001c0006t0008g0005 a0001c0006t0008g0146 others(3): Show a0001c0001t0002g0216 a0001c0006t0008g0005 a0001c0006t0008g0146 a0001c0006t0008g0147 a0001c0006t0008g0148 a0001c0006t0008g0321	6	388	0.0155	404	c.33+ others(421): Show c.33+13579_33+13580insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(397): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGA GGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0072 a0001c0005t0072	a0001c0005t0072g0133 a0001c0005t0072g0133	1	228	0.0044	404	c.259 others(425): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTT CCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCTCCTTTCC TTCCCTCCCTCCCATCTCTCCTTTCCTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(397): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGAGGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGGGGGAGGAGGGGGGAGGA GGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGGGGG AGGAGGGAGGAGGGGAGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGGAAGGGGGAGGGGGAGGAGGGGAGAGGGAGGGAGGGAGGAGGAGGGGA AGGGGGAGGGAGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGA GGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	352	0.0028	404	c.51 others(415): Show c.5165_*5166insCGCCCTCCCTCCTCCCCCCCTCCCCCTCCCCTTC CCCTCCTCCCTCCCTCCCCCTTCCCCTCCTCCTCCCTCCCTCCCTCTCCC CTCCTCCCCCTCCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCC TCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCTCCTCCCCCCTCCCCTCCT CCCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCTCCCCCTCCCTCCTCC CTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCT CTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(397): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGG GGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGG GAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG02922.hp1 HG01884.hp1 HG02896.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0014 a0001c0001t0018	a0001c0001t0014g0075 a0001c0001t0014g0083 a0001c0001t0018g0176 a0001c0001t0014g0075 a0001c0001t0014g0083 a0001c0001t0018g0176	3	352	0.0085	404	c.51 others(415): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCT CTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCC TCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCT CCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTC TTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(397): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	352	0.0028	404	c.51 others(415): Show c.5165_*5166insCTCCTCCCCCGTCCCCTCCTCCCCGCCCTCCCCT CCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTTCCCCTCCT CCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCC CCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCT CTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCC TCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCT CCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTC TTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(397): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACATATATATACACGTATATATACGTATACGTGTACA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0033 a0001c0001t0074g0033	1	169	0.0059	404	c.48- others(421): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACACGTATACGTATACACACATATACACGTATACGT ATACACACATATACACGTATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATATATACACGTAT ATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALPK2_chr18_58476247_58634091	58550503	T T	TATACAAC others(397): Show TATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCCCCATCTCC ATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCCACCCCCAT CTATATCATATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCT CCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCT ATCCCCATCTGTGTCATATACAACCCATCCCCATCTATATCACATACAAC TCCATCCCCATCTCCATCACGTAAAACCCCATCCCTGACTTCATCATGAA CAACCCCATCCCTGTCTCTATCACATATAACCTCATCCCCATCTCCATCA CCTACAACCCCATCCCCATCTCCATCATGTATGACTCTACACCCATCTAT ATCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(37): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp2 HG01361.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG02135.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG04199.hp1 NA18941.hp1 NA18945.hp2 NA18960.hp1 NA18971.hp1 NA18983.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0013 a0023 a0025 a0046 a0055 a0056 a0059	a0001c0001 a0002c0002 a0002c0079 others(12): Show a0001c0001 a0002c0002 a0002c0079 a0003c0003 a0004c0004 a0005c0005 a0006c0015 a0008c0027 a0013c0009 a0023c0026 a0025c0029 a0046c0061 a0055c0090 a0056c0091 a0059c0088	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0079t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0005c0005t0004 a0006c0015t0009 a0008c0027t0002 a0013c0009t0006 a0023c0026t0001 a0025c0029t0003 a0046c0061t0025 a0055c0090t0001 a0056c0091t0003 a0059c0088t0012	a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0213 others(37): Show a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0006g0073 a0001c0001t0024g0299 a0002c0002t0001g0126 a0002c0002t0001g0174 a0002c0002t0001g0185 a0002c0002t0001g0221 a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0003g0148 a0002c0002t0003g0180 a0002c0002t0004g0121 a0002c0002t0005g0289 a0002c0002t0007g0061 a0002c0079t0001g0220 a0003c0003t0002g0028 a0004c0004t0001g0235 a0004c0004t0002g0034 a0004c0004t0002g0067 a0004c0004t0002g0068 a0004c0004t0004g0257 a0005c0005t0004g0127 a0006c0015t0009g0004 a0008c0027t0002g0022 a0013c0009t0006g0016 a0023c0026t0001g0128 a0025c0029t0003g0119 a0046c0061t0025g0151 a0055c0090t0001g0132 a0056c0091t0003g0131 a0059c0088t0012g0102	40	320	0.1250	404	c.196 others(425): Show c.1963-12280_1963-12279insGTGATATAGATGGGTGTAGAGTCA TACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGAG GTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGATGAAGTCAGGGA TGGGGTTTTACGTGATGGAGATGGGGATGGAGTTGTATGTGATATAGATG GGGATGGGTTGTATATGACACAGATGGGGATAGAGTCATATATGATGGAG ATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGGTTGTAGGTGAT AGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTGGAGTCATATA TGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGGGGTTG TAGGTGATAGAGATGGGGATGGGGTTGTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58550503	T T	TATACAAC others(397): Show TATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCCCCATCTCC ATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCTACCCCCAT CTATATCATATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCT CCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCT ATCCCCATCTGTGTCATATACAACCCATCCCCATCTATATCACATACAAC TCCATCCCCATCTCCATCACATAAAACCCCATCCCTGACTTCATCATGAA CAACCCCATCCCTGTCTCTATCACATATAACCTCATCCCCATCTCCATCA CCTACAACCCCATCCCCATCTCCATCATGTATGACTCTACACCCATCTAT ATCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03139.hp1 others(1): Show HG02109.hp2 HG02145.hp2 HG03139.hp1 HG03195.hp1	a0004 a0007 a0030 a0004 a0007 a0030	a0004c0004 a0007c0007 a0030c0030 a0004c0004 a0007c0007 a0030c0030	a0004c0004t0003 a0004c0004t0011 a0007c0007t0011 others(1): Show a0004c0004t0003 a0004c0004t0011 a0007c0007t0011 a0030c0030t0006	a0004c0004t0003g0253 a0004c0004t0011g0094 a0007c0007t0011g0113 others(1): Show a0004c0004t0003g0253 a0004c0004t0011g0094 a0007c0007t0011g0113 a0030c0030t0006g0081	4	320	0.0125	404	c.196 others(425): Show c.1963-12280_1963-12279insGTGATATAGATGGGTGTAGAGTCA TACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGAG GTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGATGAAGTCAGGGA TGGGGTTTTATGTGATGGAGATGGGGATGGAGTTGTATGTGATATAGATG GGGATGGGTTGTATATGACACAGATGGGGATAGAGTCATATATGATGGAG ATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGGTTGTAGGTGAT AGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGAGTCATATA TGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGGGGTTG TAGGTGATAGAGATGGGGATGGGGTTGTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58550503	T T	TATACAAC others(397): Show TATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCCCCATCTCC ATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCTACCCCCAT CTATATCATATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCT CCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCT ATCCCCATCTGTGTCATATACAACCCATCCCCATCTATATCACATACAAC TCCATCCCCATCTCCATCACGTAAAACCCCATCCCTGACTTCATCATGAA CAACCCCATCCCTGTCTCTATCACATATAACCTCATCCCCATCTCCATCA CCTACAACCCCATCCCCATCTCCATCATGTATGACTCTACACCCATCTAT ATCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(52): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00741.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02109.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03540.hp2 HG03654.hp2 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA18941.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18999.hp1 NA19005.hp1 NA19058.hp1 NA19062.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0012 a0014 a0023 a0031 a0042 a0060 a0063	a0001c0001 a0001c0016 a0002c0002 others(16): Show a0001c0001 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0005c0085 a0005c0087 a0006c0015 a0006c0039 a0010c0010 a0012c0023 a0012c0083 a0014c0011 a0023c0026 a0031c0040 a0042c0063 a0060c0086 a0063c0081	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0016t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0004c0004t0003 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0005t0015 a0005c0085t0002 a0005c0087t0002 a0006c0015t0003 a0006c0015t0004 a0006c0039t0008 a0010c0010t0004 a0012c0023t0010 a0012c0083t0010 a0014c0011t0003 a0014c0011t0007 a0023c0026t0003 a0031c0040t0005 a0042c0063t0007 a0060c0086t0008 a0063c0081t0005	a0001c0001t0001g0122 a0001c0001t0001g0164 a0001c0001t0001g0176 others(52): Show a0001c0001t0001g0122 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0002g0077 a0001c0001t0003g0191 a0001c0001t0006g0070 a0001c0016t0006g0052 a0002c0002t0001g0200 a0002c0002t0001g0231 a0002c0002t0001g0238 a0002c0002t0001g0241 a0002c0002t0002g0002 a0002c0002t0003g0318 a0002c0002t0004g0297 a0002c0002t0007g0075 a0003c0003t0001g0317 a0003c0003t0002g0086 a0003c0003t0004g0296 a0004c0004t0003g0125 a0005c0005t0001g0124 a0005c0005t0001g0201 a0005c0005t0001g0308 a0005c0005t0002g0003 a0005c0005t0002g0018 a0005c0005t0002g0021 a0005c0005t0002g0023 a0005c0005t0002g0053 a0005c0005t0007g0019 a0005c0005t0015g0020 a0005c0085t0002g0024 a0005c0087t0002g0017 a0006c0015t0003g0170 a0006c0015t0004g0189 a0006c0039t0008g0120 a0010c0010t0004g0263 a0012c0023t0010g0097 a0012c0083t0010g0103 a0014c0011t0003g0259 a0014c0011t0007g0082 a0014c0011t0007g0083 a0014c0011t0007g0084 a0014c0011t0007g0085 a0023c0026t0003g0123 a0031c0040t0005g0252 a0042c0063t0007g0069 a0060c0086t0008g0225 a0063c0081t0005g0269	55	320	0.1719	404	c.196 others(425): Show c.1963-12280_1963-12279insGTGATATAGATGGGTGTAGAGTCA TACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGAG GTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGATGAAGTCAGGGA TGGGGTTTTACGTGATGGAGATGGGGATGGAGTTGTATGTGATATAGATG GGGATGGGTTGTATATGACACAGATGGGGATAGAGTCATATATGATGGAG ATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGGTTGTAGGTGAT AGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGAGTCATATA TGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGGGGTTG TAGGTGATAGAGATGGGGATGGGGTTGTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58550503	T T	TATACAAC others(397): Show TATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCCCCATCTCC ATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCTACCCCCAT CTATATCATATACAACCCCATCCCCATCTCTATCACCTACAACCCCATCT CCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATCTATGACTCT ATCCCCATCTGTGTCATATACAACCCATCCCCATCTATATCACATACAAC TCCATCCCCATCTCCATCACGTAAAACCCCATCCCTGACTTCATCATGAA CAACCCCATCCCTGTCTCTATCACATATAACCTCATCCCCATCTCCATCA CCTACAACCCCATCCCCATCTCCATCATGTATGACTCTACACCCATCTAT ATCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp1 HG02055.hp2 HG03453.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0003 a0011c0020t0008 a0011c0020t0003 a0011c0020t0008	a0011c0020t0003g0254 a0011c0020t0008g0143 a0011c0020t0003g0254 a0011c0020t0008g0143	2	320	0.0063	404	c.196 others(425): Show c.1963-12280_1963-12279insGTGATATAGATGGGTGTAGAGTCA TACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGAG GTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGATGAAGTCAGGGA TGGGGTTTTACGTGATGGAGATGGGGATGGAGTTGTATGTGATATAGATG GGGATGGGTTGTATATGACACAGATGGGGATAGAGTCATAGATGATGGAG ATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGGTTGTAGGTGAT AGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGAGTCATATA TGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGGGGTTG TAGGTGATAGAGATGGGGATGGGGTTGTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58550514	A A	ATCCCCAT others(397): Show ATCCCCATCTCTATCACCTACAACCCCATCCCCATCTCCATCACCTACAA CCCCATCCCCATCTCCATCATATATGACTCTACCCCCATCTATATCATAT ACAACCCCATCACCATCTCTATCACCTACAACCCCATCTCCATCTCCATC ACCTACAACCCCATCCCCATCTCCATCATATATGACTCTATCCCCATCTG TGTCATATACAACCCATCCCCATCTATATCACATACAACTCCATCCCCAT CTCCATCACGTAAAACCCCATCCCTGACTTCATCATGAACAACCCCATCC CTGTCTCTATCACATATAACCTCATCCCCATCTCCATCACCTACAACCCC ATCCCCATCTCCATCATGTATGACTCTACACCCATCTATATCACATACAA CCCCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0052 a0052	a0052c0075 a0052c0075	a0052c0075t0002 a0052c0075t0002	a0052c0075t0002g0046 a0052c0075t0002g0046	1	320	0.0031	404	c.196 others(425): Show c.1963-12291_1963-12290insCGGGGTTGTATGTGATATAGATGG GTGTAGAGTCATACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAG ATGGGGATGAGGTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGAT GAAGTCAGGGATGGGGTTTTACGTGATGGAGATGGGGATGGAGTTGTATG TGATATAGATGGGGATGGGTTGTATATGACACAGATGGGGATAGAGTCAT ATATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGG TTGTAGGTGATAGAGATGGTGATGGGGTTGTATATGATATAGATGGGGGT AGAGTCATATATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGG GGATGGGGTTGTAGGTGATAGAGATGGGGA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58550514	A A	ATCCCCAT others(397): Show ATCCCCATCTCTATCACCTACAACCCCATCCCCATCTCCATCACCTACAA CCCCATCCCCATCTCCATCATATATGACTCTACCCCCATCTATATCATAT ACAACCCCATCCCCATCTCTATCACCTACAACCCCATCTCCATCTCCATC ACCTACAACCCCATCCCCATCTCCATCATATATGACTCTATCCCCATCTG TGTCATATACAACCCATCCCCATCTATATCACATACAACTCCATCCCCAT CTCCATCACGTAAAACCCCATCCCTGACTTCATCATGAACAACCCCATCC CTGTCTCTATCACATATAACCTCATCCCCATCTCCATCACCTACAACCCC ATCCCCATCTCCATCATGTATGACTCTACACCCATCTATATCACATACAA CCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp1 others(109): Show HG00099.hp1 HG00140.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02080.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18948.hp1 NA18960.hp2 NA18966.hp1 NA18986.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19065.hp1 NA19077.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(32): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0028 a0032 a0033 a0036 a0038 a0039 a0040 a0041 a0045 a0047 a0048 a0049 a0061 a0064	a0001c0001 a0001c0006 a0001c0016 others(43): Show a0001c0001 a0001c0006 a0001c0016 a0002c0002 a0002c0014 a0002c0080 a0003c0003 a0004c0004 a0006c0015 a0006c0034 a0006c0039 a0007c0007 a0008c0027 a0009c0008 a0011c0020 a0013c0009 a0015c0013 a0016c0018 a0017c0017 a0017c0052 a0018c0028 a0018c0046 a0019c0032 a0019c0048 a0020c0019 a0021c0073 a0022c0022 a0025c0029 a0026c0042 a0026c0043 a0027c0057 a0028c0054 a0028c0055 a0032c0078 a0033c0038 a0036c0047 a0038c0044 a0039c0095 a0040c0066 a0041c0065 a0045c0062 a0047c0064 a0048c0053 a0049c0051 a0061c0084 a0064c0082	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0006t0002 a0001c0006t0009 a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0014t0004 a0002c0080t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 a0004c0004t0018 a0004c0004t0021 a0006c0015t0002 a0006c0034t0004 a0006c0039t0008 a0007c0007t0001 a0007c0007t0008 a0007c0007t0010 a0007c0007t0011 a0008c0027t0010 a0009c0008t0001 a0009c0008t0002 a0009c0008t0003 a0009c0008t0008 a0011c0020t0002 a0013c0009t0001 a0013c0009t0003 a0013c0009t0006 a0015c0013t0005 a0015c0013t0009 a0016c0018t0005 a0016c0018t0012 a0017c0017t0010 a0017c0017t0012 a0017c0017t0023 a0017c0052t0013 a0018c0028t0006 a0018c0028t0019 a0018c0046t0007 a0019c0032t0004 a0019c0048t0011 a0020c0019t0002 a0020c0019t0005 a0020c0019t0022 a0021c0073t0001 a0022c0022t0004 a0025c0029t0007 a0026c0042t0001 a0026c0043t0008 a0027c0057t0012 a0028c0054t0005 a0028c0055t0005 a0032c0078t0008 a0033c0038t0004 a0036c0047t0002 a0038c0044t0002 a0039c0095t0001 a0040c0066t0001 a0041c0065t0011 a0045c0062t0001 a0047c0064t0001 a0048c0053t0001 a0049c0051t0001 a0061c0084t0004 a0064c0082t0005	a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0217 others(109): Show a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0217 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0006g0029 a0001c0001t0006g0032 a0001c0006t0002g0044 a0001c0006t0002g0047 a0001c0006t0002g0048 a0001c0006t0009g0043 a0001c0006t0009g0045 a0001c0016t0001g0212 a0001c0016t0001g0288 a0001c0016t0001g0303 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0166 a0002c0002t0001g0219 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0072 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0301 a0002c0002t0004g0280 a0002c0002t0005g0307 a0002c0014t0004g0133 a0002c0014t0004g0134 a0002c0080t0001g0300 a0003c0003t0001g0187 a0003c0003t0001g0210 a0003c0003t0002g0041 a0004c0004t0001g0154 a0004c0004t0001g0216 a0004c0004t0001g0229 a0004c0004t0001g0260 a0004c0004t0001g0302 a0004c0004t0002g0078 a0004c0004t0002g0079 a0004c0004t0003g0184 a0004c0004t0003g0226 a0004c0004t0003g0227 a0004c0004t0003g0310 a0004c0004t0003g0311 a0004c0004t0005g0228 a0004c0004t0006g0033 a0004c0004t0006g0037 a0004c0004t0018g0025 a0004c0004t0021g0117 a0006c0015t0002g0057 a0006c0034t0004g0153 a0006c0039t0008g0283 a0007c0007t0001g0285 a0007c0007t0008g0243 a0007c0007t0010g0099 a0007c0007t0010g0100 a0007c0007t0011g0112 a0008c0027t0010g0104 a0009c0008t0001g0258 a0009c0008t0002g0026 a0009c0008t0003g0118 a0009c0008t0008g0251 a0011c0020t0002g0014 a0013c0009t0001g0290 a0013c0009t0003g0306 a0013c0009t0006g0006 a0013c0009t0006g0008 a0015c0013t0005g0224 a0015c0013t0009g0007 a0015c0013t0009g0009 a0015c0013t0009g0013 a0016c0018t0005g0144 a0016c0018t0005g0158 a0016c0018t0012g0098 a0017c0017t0010g0105 a0017c0017t0012g0096 a0017c0017t0023g0139 a0017c0052t0013g0115 a0018c0028t0006g0049 a0018c0028t0019g0050 a0018c0046t0007g0012 a0019c0032t0004g0167 a0019c0032t0004g0316 a0019c0048t0011g0091 a0020c0019t0002g0051 a0020c0019t0005g0141 a0020c0019t0022g0233 a0021c0073t0001g0168 a0022c0022t0004g0138 a0022c0022t0004g0145 a0022c0022t0004g0150 a0025c0029t0007g0015 a0026c0042t0001g0244 a0026c0043t0008g0159 a0027c0057t0012g0101 a0028c0054t0005g0152 a0028c0055t0005g0163 a0032c0078t0008g0284 a0033c0038t0004g0281 a0033c0038t0004g0282 a0036c0047t0002g0005 a0038c0044t0002g0011 a0039c0095t0001g0142 a0040c0066t0001g0273 a0041c0065t0011g0095 a0045c0062t0001g0222 a0047c0064t0001g0250 a0048c0053t0001g0309 a0049c0051t0001g0157 a0061c0084t0004g0199 a0064c0082t0005g0175	112	320	0.3500	404	c.196 others(425): Show c.1963-12291_1963-12290insCGGGGTTGTATGTGATATAGATGG GTGTAGAGTCATACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAG ATGGGGATGAGGTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGAT GAAGTCAGGGATGGGGTTTTACGTGATGGAGATGGGGATGGAGTTGTATG TGATATAGATGGGGATGGGTTGTATATGACACAGATGGGGATAGAGTCAT ATATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGG TTGTAGGTGATAGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGT AGAGTCATATATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGG GGATGGGGTTGTAGGTGATAGAGATGGGGA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ANO9_chr11_412938_447011	431458	C C	CCCGCGGG others(397): Show CCCGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAAG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG GGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGG GGCGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02895.hp2 HG01243.hp1 HG02257.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0252 a0001c0001t0001g0272 a0001c0001t0001g0193 a0001c0001t0001g0252 a0001c0001t0001g0272	3	286	0.0105	404	c.539 others(419): Show c.539+235_539+236insACGCCCCCACATCCCCGCAGACGCCCCCAG ATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGG GAGCCCCCACACCCCCGCAGAAGCCCCCCCAGATACCCGCGGACGCCCCC ACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGC GGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCC AGATACCCGCGGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCGC GGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCC GCAGACGCCCCCAGGTACCCGCGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431458	C C	CCCGCGGG others(397): Show CCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG GGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGG GGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	286	0.0035	404	c.539 others(419): Show c.539+235_539+236insACGCCCCCACATCCCCGCAGACGCCCCCAG ATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGG GAGCCCCCACACCCCCGCAGAAGCCCCCCCAGATACCCGCGGACGCCCCC ACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGC GGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCC AGATACCCGCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGC GGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCC GCAGACGCCCCCAGATACCCGCGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(397): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACGTACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATGTATAAATACGTACATATTTATACATA TATGTATAAATACATATACATATTTATACATATATGTATAAATACATATA CATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0028 a0001c0001t0100g0028	1	256	0.0039	404	c.39 others(413): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(397): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATTCATATATATCATATATGATATATATGAATATATATATC ATATATGATATATATGAATATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATGATATATATATCATATATTATATATGATA TATATATCATATATGATATATATGAATATATATATCATATATGATATATA TGAATATATATATCATATATGATATATATGAATATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATGAATATATATATCAT ATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20805.hp1 HG02055.hp2 NA20805.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0157 a0002c0001t0019g0016 a0002c0001t0002g0157 a0002c0001t0019g0016	2	356	0.0056	404	c.924 others(421): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATGAATATATATCATATATGATATATATATTCATATAT ATCATATATGATATATATATTCATATATATCATATATGATATATATATTC ATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10A_chr15_25673712_25868327	25758432	T T	TCACCTGC others(397): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATT CCGAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0252 a0013c0010t0001g0252	1	300	0.0033	404	c.655 others(423): Show c.655-22292_655-22291insGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C20orf96_chr20_265863_295750	278961	C C	CGGGAGGG others(397): Show CGGGAGGGAGGGACGGAAGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGG AGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGACGG AGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAG GGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGG AGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAG GGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGG ACGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	410	0.0024	404	c.465 others(419): Show c.465+210_465+211insTCCGTCCCGCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCC TCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGC CCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCC TCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGC CCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCG TCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCTTCCGTCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf80_chr2_208160347_208195030	208176905	C C	CTGTATAC others(397): Show CTGTATACATATCTGTATATACATATCTGTATACATATCTGTATATACAT ATCTGTATACATATGTATATACATATCTGTATACATATGTATACATATCT GTATACATATGTATATACATATCTGTATACATATGTATATACATATCTGT ATACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATAT ACATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATCTGTATACATATGTATACAGAT CTGTATACATATGTGTATACAGATCTGTATACATATGTATACAGATCTGT ATACATATGTGTATACATATCTGTATACATATGTGTATACAGATCTGTAT ACATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	342	0.0029	404	c.366 others(421): Show c.366+3839_366+3840insTATGTATACAGATCTGTATACACATATG TATACAGATATGTATACACATATGTATACAGATCTGTATACATATGTATA CAGATCTGTATACACATATGTATACAGATCTGTATACATATGTATACAGA TATGTATACAGATATGTATACACATATGTATACAGATATGTATACACATA TGTATACAGATATGTATACACATATGTATATACAGATATGTATACACATA TGTATACAGATATGTATACATATGTATACAGATATGTATATACATATGTA TACAGATATGTATATACATATGTATACAGATATGTATACATATGTATACA GATATGTATATACATATGTATACAGATATGTATATACAGATATGTATACA GATATGTATATACAGATATGTATACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CALN1_chr7_71774491_72417338	72106698	G G	GAGGAAGG others(397): Show GAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	142	0.0070	404	c.245 others(419): Show c.245-405_245-404insTCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTTCCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209301	T T	TTTCCTTC others(397): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCC TCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTC CCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0010 a0001c0001t0015	a0001c0001t0010g0114 a0001c0001t0015g0042 a0001c0001t0010g0114 a0001c0001t0015g0042	2	142	0.0141	404	c.244 others(423): Show c.244+69384_244+69385insGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAA AGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAG GGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(397): Show ATATATATATAATTATATATATAATTTTATATATATAATTATATATATAT AATTATATATTTTTATATATATAATTATATATATAATTTTATATATATAT AATTATATATAATTATATATATATAATTATATATATTATATATATAATTA TATATATATATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATAATTATATATATATAAAATTATATATATAATTTTATAT ATAAAATTATATATATAATTTTATATATATAATTATATATATAATTTTAT ATATATAATTATATATATATAATTTTATATATATAATTATATATATATAA TTTTATATATATATAATTATATATAATTTTATATATATATAATTATATAT ATAAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	330	0.0030	404	c.907 others(419): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATAATTATATA TATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTA TATATATATAATTATATATATAAAATTATATATATAATTATATATATATA AAATTATATATATAATATATATATATAATTATATATATAATATATATAAT TATATATATATAATTATATATAATTATATATATATAAAATTATATATATA ATTATATATATAAAAATATATAATTATATATATATAATTATATATATAAA ATTATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(397): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0020 a0013c0014t0001g0020	1	252	0.0040	404	c.-29 others(415): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(397): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATTATAATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	288	0.0035	404	c.154 others(423): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATATA ATATATATTATATTATAATATAATATATATTATATAAAATATATATTATA TTATATATAATATATATTATATAAAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATATAATATATATTATATAAAA TATATATTATATTATATATAATATATATTATATAAAATATATATTATATT ATATATAATATATATTTTATAAAATATATATTATATTATATAATATATAT TTTATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882406	G G	GGGGGAGA others(397): Show GGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAG CCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0032 a0002c0004t0001g0032	1	288	0.0035	404	c.303 others(423): Show c.303+23715_303+23716insGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCT TTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882475	G G	GGGAGAAG others(397): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCTGGGGAGAAGGAAAGGAAAGCC AGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0144 a0001c0010t0017g0144	1	288	0.0035	404	c.303 others(423): Show c.303+23646_303+23647insGCGGCTTTCCTTTCCTTCTCCCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCT CCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCC AGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CEP72_chr5_607340_658553	628625	C C	CAGGGAGT others(397): Show CAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGTTCTGGAG AACTCAGGTTGCCGTCCCTGGGGAGTGGCCCCAGGACCCAGCCCCCTTCT TTGTGCAGCTTCTGGAGAACTCAGGTCACAGGCCCCGGGGAGTGTTCCCA GGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTC CCCGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGA GAACTCAGGTTGCCGTCCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTC TTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGAGTGGCCCC AGGACCCAGCGCCCTTCTTTGTGCAGCGTTCTGGAGAACTCAGGTTGCCG TCCCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0039 a0001c0001t0001g0056	2	91	0.0220	404	c.512 others(421): Show c.512+4046_512+4047insAGGGAGTGGCCCCAGGACCCAGCGCCCT TCTTTGTGCAGCGTTCTGGAGAACTCAGGTTGCCGTCCCTGGGGAGTGGC CCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCAC AGGCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTC TGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCACGACCCAGCCCC CTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCTGGGGAGTGT TCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTG CCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGT TCTGGAGAACTCAGGTTGCCGTCCCT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11			chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(397): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCCTCCCCCCTTCCTC CCTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCC TTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCCTTACTC CCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTC CTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0024 a0004c0014t0001g0024	1	354	0.0028	404	c.69 others(415): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCC TTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCC CTTCCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTC CTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(397): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACGT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18956.hp1 NA18993.hp2 HG02273.hp1 NA18956.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0261 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0261	3	372	0.0081	404	c.894 others(419): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(397): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACGTGTATATATACTCATATACATGTGTGTATA TACGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	372	0.0027	404	c.894 others(419): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACACGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATA TACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(397): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCC TCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	270	0.0037	404	c.162 others(425): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(397): Show TATATGTGTGTGTATGGGAGTGTATGGGGTGTGTGTATGACTGTGTATGG GTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTGT ATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTGT ATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGTG TATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTA TGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATG GGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGTATGGG AGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAG TGTGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0019 a0019	a0019c0056 a0019c0056	a0019c0056t0001 a0019c0056t0001	a0019c0056t0001g0063 a0019c0056t0001g0063	1	336	0.0030	404	c.341 others(421): Show c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC CCATACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(397): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0088 a0002c0088	a0002c0088t0003 a0002c0088t0003	a0002c0088t0003g0225 a0002c0088t0003g0225	1	344	0.0029	404	c.85- others(421): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(397): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	448	0.0022	404	c.51+ others(419): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTAGTATACATACTACATGATATACATAGTAGTATACATACTACATGA TATACATAGTATGTAGTATACATACTACATGATATACATAGTATGTAGTA TACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(397): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACTATGTATATCATGTAGTATGTATACTACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	448	0.0022	404	c.51+ others(419): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTAGTATACATACTAC ATGATATACATAGTAGTATACATACTACATGATATACATAGTATGTAGTA TACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(397): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	326	0.0031	404	c.737 others(423): Show c.737+19565_737+19566insCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGG CAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCAGGCGGGGTGCTGACCCCCCCACCT CCTTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGCTGACCTCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(397): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCCGGCCAGCTGCCCTGTCTGGGAGGTGAGGGGTGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGACAGCCGCCCTGTCC GGGAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	326	0.0031	404	c.737 others(423): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(397): Show AGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGG TGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTACTTG GTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGT GGTACTTGGTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGG TGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGG TGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTT GGTGGTGGTGGCGGTGGTACTTGGTGGTGGTGGTGCTTGGTGGTGGTGAT GGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGG TGGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0190 a0002c0012t0003g0190	1	412	0.0024	404	c.-9- others(417): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGT GGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGG TGGTGGTACTTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTT GGTGGTGGTGGTGGTACTTGGTGGTGGTGGCGGTGGTACTTGGTGGTGCT GGTGGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGG TGGTGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTG GTGGCGGTACTTGGTGGTGGTGGCGGTGGTACTTGGTGGTGGTGGTGCTT GGTGGTGGTGATGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGT GGTGGTACTTGGTGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE4_chr3_131528569_132040014	131978464	A A	ATTTATAT others(397): Show ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATATATATTTATAT ATATATTTATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18946.hp1 NA18946.hp2 HG02735.hp2 NA18946.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0001g0042 a0001c0001t0003g0037 a0001c0001t0003g0038	3	94	0.0319	404	c.-2+ others(421): Show c.-2+56102_-2+56103insAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(397): Show GCCCCGCCCCTCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCCGCCC CCTCAGTCTGTGGCCCCGCCCCTCCCCGCCCCTCAGTCCGTGGCCCCGCC CCTCCCCGCCCCCTCAGTCTGTGGCCCCGCCCCTCCCCGCCCCTCAGTCC GTGGCCCCGCCCCTCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCCCCG CCCCTCAGTCTGTGGCCCCGCCCCTCCCCGCCCCCCTCAGTCCGTGGCCC CGCCCCTCCCCGCCCCCTCAGTCTGTGGCCCCGCCCCCGCCCCGCCCCCT CAGTCCGTGGCCCCGCCCCCCTCCACACCGGGACCTGCCCCCCGCCCACC CGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCTGCC CCCGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02300.hp2 HG02683.hp1 others(1): Show HG00323.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0222	4	348	0.0115	404	c.927 others(419): Show c.927+237_927+238insTCCCCGCCCCCTCAGTCCGTGGCCCCGCCC CTCCCCGCCCCCTCAGTCTGTGGCCCCGCCCCTCCCCGCCCCTCAGTCCG TGGCCCCGCCCCTCCCCGCCCCCTCAGTCTGTGGCCCCGCCCCTCCCCGC CCCTCAGTCCGTGGCCCCGCCCCTCCCCGCCCCCTCAGTCCGTGGCCCCG CCCCTCCCCGCCCCTCAGTCTGTGGCCCCGCCCCTCCCCGCCCCCCTCAG TCCGTGGCCCCGCCCCTCCCCGCCCCCTCAGTCTGTGGCCCCGCCCCCGC CCCGCCCCCTCAGTCCGTGGCCCCGCCCCCCTCCACACCGGGACCTGCCC CCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCCGC CGCCCCTGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRLF2_chrX_1185490_1217649	1198193	C C	CAGGACAC others(397): Show CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCG GGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGATAGGACACCCTC CCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTTCCAGGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCC TCCCTCCCACCTCCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGG AAGAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0083 a0001c0007t0001g0083	1	167	0.0060	404	c.646 others(419): Show c.646+368_646+369insATCTTCCCGGGAGGTGGGAGGGAGGGTGTC CTATCTTCCCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC CTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGAAGGTGGGAGGGAG GGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGAGG TGGGAGGGAGGGTGTCCTATCTTCCCGGGAGGTGGGAGGGAGGCTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240980019	A A	AGTCTCTG others(397): Show AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATGCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGA GCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0135 a0014c0014t0001g0135	1	350	0.0029	404	c.440 others(423): Show c.4402-2861_4402-2860insGTCTCTGGGGTAGGAGCCTCTGGAGC CCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT GCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATA others(397): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACATATATACACATATATATGTGTATATACATATATACACATATATG TACACATATATATGTGTATATACATATATACACATATATGTACACATATA TATGTGTATATACATATATACACATATATGTACACATATATATGTGTATA TACATATATACACATATATGTACACATATATATGTGTATATATGTGTGTA TATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	404	c.19 others(415): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTACATATATGTGTATATATGT ATATACACATATATATGTGTACATATATGTGTATATATGTATATACACAT ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTATATATGTATATACACATATATATGTGTATAT ATGTATATACACATATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATA others(397): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACATATATACACATATATATGTGTATATACATATATACACATATATG TACACATATATATGTGTATATACATATATACACATATATGTACACATATA TATGTGTATATACATATATACACATATATGTACACATATATATGTGTATA TACATATATACACATATATGTACACATATATATGTGTATATATGTGTGTA TATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	404	c.19 others(415): Show c.1992_*1993insATATATATGTGTATATACATATATACACATATAT ATGTGTATATACATATATACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATATGTGTATATACAT ATATACACATATATGTACACATATATATGTGTATATACATATATACACAT ATATGTACACATATATATGTGTATATACATATATACACATATATGTACAC ATATATATGTGTATATACATATATACACATATATGTACACATATATATGT GTATATATGTGTGTATATACATATATGTGTATATACGTATATACACATGT GTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATA others(397): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TGTACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACATATATACACATATATGTACACATATATATGTGTA TATACATATATACACATATATGTACACATATATATGTGTATATACATATA TACACATATATGTACACATATATATGTGTATATACATATATACACATATA TGTACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATATGTGTGTATATACATATATGTGTATATATGTGTGTA TATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	404	c.19 others(415): Show c.1992_*1993insATATATATGTGTATATACATATATACACATATAT ATGTGTATATACATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATATGTGTGTATATACATATATGT GTATATATGTGTGTATATACATATATGTGTATATACGTATATACACATGT GTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(397): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGG GGGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0103 a0002c0002t0003g0103	1	216	0.0046	404	c.923 others(423): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCT CCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTC CATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCC TTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar

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Search Results (Total: 10000 hits)