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 (≤).

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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
RPH3AL_chr17_207389_357807	234006	C C	CGAGCAGG others(402): Show CGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAACAGGGAGCG GCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTG ACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTG AGCAGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGCGGGGAGCG GCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTG ACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCG AGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGC TACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGAC CAACTTCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	133	0.0075	409	c.613 others(428): Show c.613+13104_613+13105insAGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCGG GGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTCAG GGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGC TCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCCGCTTGGGG GAAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAG GGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGC TCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGTTCGGGG AAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	234080	C C	CGAGCAGG others(402): Show CGAGCAGGGAGCGGCTACTTCCCCTGACCAACTTCCCTGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTCCCCTG ACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCG AGCAGGGAGCGGCTACTTCCCCTGACCAACTTCCCTGAGCAGGGAGCGGC TACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGAC CAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAG CAGGGAGCGGCTACTTCCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTA CTTACCCTGACCAACTTTCCCCCAAGCGGGGAGCGGCTACTTACCCTGAC CAACTTCCCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01943.hp2 HG02165.hp2 HG01258.hp1 HG01943.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0014g0106 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0014g0106	3	133	0.0226	409	c.613 others(428): Show c.613+13030_613+13031insAGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCCGCTTGGGGGAAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTC AGGGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTC AGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCTGCTCGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAG GGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTCAG GGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGGAAGTAGCCGC TCCCTGCTCAGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGG AAGTTGGTCAGGGGAAGTAGCCGCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(402): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGGAGGG AGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGG AGGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGG GAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGGAGGAGGGAGGGGGAGA AGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAG AGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGA GGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	396	0.0025	409	c.807 others(426): Show c.807-1376_807-1375insTCCTCCTTCTCCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTC CCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCC CTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCCTCCCTCCT CCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCC CCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SCGB1C1_chr11_188078_199575	196141	A A	AGGGGGGC others(402): Show AGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCA TGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02622.hp1 HG02630.hp2 others(1): Show HG00642.hp2 HG02622.hp1 HG02630.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	4	354	0.0113	409	c.16 others(420): Show c.1691_*1692insGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACAT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1567		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196197	G G	GGGGACCT others(402): Show GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAG GGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATG GTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGA CCTGCTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	354	0.0028	409	c.17 others(420): Show c.1747_*1748insGGGACCTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGG TGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCT GGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACAT GGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGG GACCTGGTGAGGGGACCTGCTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1623		chr11	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(402): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCCTATATATA TATTCCCTATATATATATTCCCTATATATATATTCCATATATATATATTC CCTATATATATATTCCATATATATATATTCCCTATATATATATTCCATAT ATATATTCCATATATATATATTCCATATATATATATTTCATATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATATATATATTCCATATATATATATAT ATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	324	0.0031	409	c.115 others(426): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATATGAAATAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA GGGAATATATATATATGGAATATATATATAGGGAATATATATATATGGAA TATATATATAGGGAATATATATATAGGGAATATATATATAGGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(402): Show CATATATATATATTCCATATATATATATTCCCTATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCATATATATA TATTCCCTATATATATATTCCATATATATATATTCCCTATATATATATTC CCTATATATATATTCCATATATATATATTCCATATATATATTCCATATAT ATATATTCCATATATATATATTTCATATATATATATTCCATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATATATATATTCCATATATATATATAT ATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	324	0.0031	409	c.115 others(426): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATATGAAATATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGAA TATATATATATGGAATATATATATAGGGAATATATATATATGGAATATAT ATATAGGGAATATATATATATGGAATATATATATAGGGAATATATATATA GGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATGTATG others(402): Show TATGTATGTGATATGTGATATATATATCACATATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATCACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0004 a0003c0011t0004	a0003c0011t0004g0068 a0003c0011t0004g0068	1	244	0.0041	409	c.104 others(428): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATATGTGATATATATATCACATATCACATACAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80863886	T T	TGTATGTG others(402): Show TGTATGTGATATGTGATATATATATCACATATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATCACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	244	0.0041	409	c.104 others(428): Show c.104-35142_104-35141insGTGTGTGATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATATGTGATATATATATCACATATCACATAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(402): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCC CAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGC CCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19054.hp2 HG02300.hp1 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0009 a0002c0002t0003 a0002c0002t0009	a0002c0002t0003g0030 a0002c0002t0009g0066 a0002c0002t0003g0030 a0002c0002t0009g0066	2	370	0.0054	409	c.284 others(428): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SHANK1_chr19_50654255_50724802	50678920	G G	GTGGGGAG others(402): Show GTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACA GGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCA GGGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAAGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0068 a0001c0003t0012g0068	1	316	0.0032	409	c.257 others(428): Show c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCACCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC CTGACCCCTCCCCATCATCTTGACCCCTCCCCATCATCTTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC CCCTCTCCATCACCCTGACCCCTCTCCATCACCCTGACCCCTCTCCATCA CACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACC CTGACCCCTTCCCATCACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(402): Show TGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGT TTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAA TTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGCAATAGA TGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGAT GCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGAT GGATGGGATGGATGGATGGATGGATGGATGGATGGATGGATGGCTGAATG GATGGTTGAATGGATGGTTGAATGGATGGATGGATGGATGGGTGGATGGA TGGATGGATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	390	0.0026	409	c.831 others(426): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATG GATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGA ATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGC AATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGG ATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGG ATGGATGGATGGGATGGATGGATGGATGGATGGATGGATGGATGGATGGC TGAATGGATGGTTGAATGGATGGTTGAATGGATGGATGGATGGATGGGTG GATGGATGGATGGATGGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC6A3_chr5_1387794_1450440	1422441	G G	GCTGCCCA others(402): Show GCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGT GCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGC TGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGC TGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGC TGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTG GGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCCACCGCT GCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	373	0.0027	409	c.654 others(424): Show c.654-428_654-427insTGGTGGGCACCCAGCAGCGTGGGCAGCACT GTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGG GCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGGCACCCAGCAC CGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTG GGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCG TGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SNTG2_chr2_945849_1372613	965349	G G	GTCCTCCT others(402): Show GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0119 a0002c0033t0001g0119	1	190	0.0053	409	c.72+ others(426): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827176	C C	CATATATT others(402): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTT ATATAATATATACACATATAGTTTATATAATATATACACATATAGTTTAT ATAATATATACACATATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AAATATATTATAGTTTATATAATATATACATATATATTATAGTTTATATA ATATATACAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	302	0.0033	409	c.12+ others(424): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATACACATATAGTTTATATAATATATACACATATAGTTTATAT AATATATACACATATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAA ATATATTATAGTTTATATAATATATACATATATATTATAGTTTATATAAT ATATACATATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7455243	C C	CGCTATGT others(402): Show CGCTATGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTGTTGGG GTCAGGCACTGTGTTGGGGTCAGTGCTGTGTGTTGGGGTCTGGTGCTGTG TTGGGGTCAGGCACTGTGTTGGGGTCTGGTGCTGTGTGTTGGGGTCAGGT GCTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGTGCTGTGTTGGGG TCAGGCACTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGAGCTGTG TGTTGGGGTCAGGTGCTGTATTGGGGTCAGGCTCCGTGTTAGTGTCATGC GCCACGTTAGGGTCAGGCAGTGTGTTGGGGTCAGATGCTGTGTTGGGGTC AGCTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGAGCTGTGTGTT GGGGTCAGGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0165 a0001c0006t0005g0165	1	168	0.0060	409	c.548 others(428): Show c.548+58891_548+58892insATGTTGGGGTCAGGAGCTGTGTGTTG GGGTCAGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGTGCTGTG TGTTGGGGTCTGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCTGGT GCTGTGTGTTGGGGTCAGGTGCTGTGTTGGGGTCAGGTGCTGTGTGTTGG GGTCAGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGTGCTGTG TGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTATTGGGGTCAG GCTCCGTGTTAGTGTCATGCGCCACGTTAGGGTCAGGCAGTGTGTTGGGG TCAGATGCTGTGTTGGGGTCAGCTGCTGTGTTGGGGTCAGGCACTGTGTT GGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35914178	G G	GAGTGTGT others(402): Show GAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGGTGGTGTGTGTGTAAGTTGTAT GTGTGTTGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	409	c.34 others(420): Show c.3487_*3488insAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGGTGGTGT GTGTGTAAGTTGTATGTGTGTTGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2493		chr9	TogoVar
SRXN1_chr20_641615_658200	642362	G G	GGCCCAGC others(402): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0049 a0001c0005t0002g0049	1	422	0.0024	409	c.63 others(420): Show c.6351_*6352insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4252		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(402): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCTCCCCTCCTGTATC TTCCCCTCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTC CTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCC CTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCT CCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCC TCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTC CTCCTGTATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02630.hp2 HG01167.hp1 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0176 a0002c0002t0008g0178 a0002c0002t0008g0176 a0002c0002t0008g0178	2	202	0.0099	409	c.262 others(428): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCC CTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCT CCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCC TCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTC CTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCT CCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCLG2_chr3_67369719_67659612	67444510	T T	TGGGGGGG others(402): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GCGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA CCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	280	0.0036	409	c.106 others(430): Show c.1063-43660_1063-43659insCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGCGGGCTGACC CCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCGCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444510	T T	TGGGGGGG others(402): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA CCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01081.hp2 others(42): Show HG00280.hp2 HG00738.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG02145.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18950.hp1 NA18979.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp2 NA19058.hp1 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19079.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0004t0001 a0001c0004t0004 a0001c0004t0016 a0002c0002t0001 a0002c0002t0003 a0003c0003t0005	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0026 others(42): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0046 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0110 a0001c0001t0002g0174 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0037 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0127 a0001c0001t0003g0251 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0004g0066 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0010g0054 a0001c0004t0001g0275 a0001c0004t0004g0273 a0001c0004t0016g0274 a0002c0002t0001g0080 a0002c0002t0003g0077 a0002c0002t0003g0129 a0003c0003t0005g0016 a0003c0003t0005g0247 a0003c0003t0005g0248	45	280	0.1607	409	c.106 others(430): Show c.1063-43660_1063-43659insCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGCGGGCTGACC CCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(402): Show GATTATAAAATATAATCATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	268	0.0037	409	c.75 others(420): Show c.7501_*7502insATTATAAAATATAATCATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638057	A A	AAAAATAT others(402): Show AAAAATATATAATATATTATATATGATCATATATAATATATATTATATAT GATCATATAAAATATATAATATATTATATATGATCATATAAAATATATAA TATATTATATATGATCATATAAAATATATAATATATTATATATGATCATA TAAATATATAATATATTAATATGATCATATAAATATATAATATATTATAT ATGATCATATAAAATATATAATATATTATACATGATCATATAAAATATAT AATATACATGATCATATAAAATATATAATATAATATACATGATCATATAA AATATATAATATACATGATCATATAAAATATATATTATACATGATCATAT AAAAATATATATATTATATATGATCATATATAATATATAATATATTATAT ATGATCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01358.hp2 HG00733.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0232 a0001c0001t0001g0071 a0001c0001t0001g0232	2	268	0.0075	409	c.79 others(420): Show c.7902_*7903insAAAATATATAATATATTATATATGATCATATATA ATATATATTATATATGATCATATAAAATATATAATATATTATATATGATC ATATAAAATATATAATATATTATATATGATCATATAAAATATATAATATA TTATATATGATCATATAAATATATAATATATTAATATGATCATATAAATA TATAATATATTATATATGATCATATAAAATATATAATATATTATACATGA TCATATAAAATATATAATATACATGATCATATAAAATATATAATATAATA TACATGATCATATAAAATATATAATATACATGATCATATAAAATATATAT TATACATGATCATATAAAAATATATATATTATATATGATCATATATAATA TATAATATATTATATATGATCATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4523		chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	46859018	C C	CCATAGAG others(402): Show CCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTT TCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCAGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGA ATCCTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	112	0.0089	409	c.638 others(428): Show c.638-19635_638-19634insCATAGAGGTCCGCGCAGTGCCGTGCC CCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGC CCCTTCCCAGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTG CCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTGCTGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCG TGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTGCC GTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGC CGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTG CTGTGCCCCTTCCTGGGACCAGAATCCTTTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12			chr22	TogoVar
TCF3_chr19_1604292_1657615	1628254	C C	CGGGGATG others(402): Show CGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCT CACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGC GGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0131 a0001c0005t0002g0131	1	352	0.0028	409	c.299 others(424): Show c.299-829_299-828insTGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC ACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCATCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGA others(402): Show GGGGGTGAGGTGGGAAGCGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCATGGGGATGGGGAGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGC GGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGG GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAG CAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01099.hp2 HG00140.hp2 HG00639.hp1 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0008 a0001c0004t0003 a0001c0004t0008	a0001c0004t0003g0091 a0001c0004t0008g0097 a0001c0004t0008g0100 a0001c0004t0003g0091 a0001c0004t0008g0097 a0001c0004t0008g0100	3	352	0.0085	409	c.299 others(426): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCGCTCC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTGTGAGCT CTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC ACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTC CCTCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGT GAGCTCTGCTGTCCGCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGCGGGA others(402): Show AGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGGGGCGGGAA GGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGGAGCGTGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGG AAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGC TCACGGGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0068 a0003c0008t0068	a0003c0008t0068g0268 a0003c0008t0068g0268	1	352	0.0028	409	c.299 others(426): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGA GCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCC TGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTACTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(402): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCCATGACCA ACCACCATCTAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACTGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0058 a0001c0012t0001g0058	1	392	0.0026	409	c.228 others(428): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGG TCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGT GGATGGTGATCGGTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(402): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCA ACCACCATCTAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACTGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02698.hp1 HG02738.hp1 others(2): Show HG01361.hp2 HG02698.hp1 HG02738.hp1 HG03688.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0111 a0001c0003t0001g0153 a0001c0003t0001g0154 others(2): Show a0001c0003t0001g0111 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0004t0001g0049	5	392	0.0128	409	c.228 others(428): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTAGATGGTGGTTGGTCACAGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGG TCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGT GGATGGTGATCGGTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM132B_chr12_125181386_125667369	125613108	A A	ATATAAAA others(402): Show ATATAAAAATATATATCATATATATTTATATTATATAAAAATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATAT CATATATATTTATATATTATATAAAAATATATATCATATATATTTATATA TTATATATAAATATATATGATATATATTTATATTATATAAAAATATATAT GATATATATTTATATATTATATAAAAATATATATGATATATATTTATATA TTATATAAAAATATATATGATATATATTTATATATTATATAAAAATATAT ATCATATATATTTATATATTATATAAAAATATATATCATATATATTTATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0011 a0002c0022t0011	a0002c0022t0011g0092 a0002c0022t0011g0092	1	128	0.0078	409	c.143 others(430): Show c.1437+29114_1437+29115insTATAAAAATATATATCATATATAT TTATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATATAAATATATATGATATAT ATTTATATTATATAAAAATATATATGATATATATTTATATATTATATAAA AATATATATGATATATATTTATATATTATATAAAAATATATATGATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8			chr12	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(402): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATACATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	224	0.0045	409	c.102 others(428): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATGTATAAT ATATATAATGTATATATAATGTATAATATATATAATGTATATATAATGTA TATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(402): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG01361.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0003g0033 a0001c0001t0001g0050 a0001c0001t0003g0033	2	224	0.0089	409	c.102 others(428): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATGTATAATATATATAATGTATATATAATGTA TATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(402): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	224	0.0045	409	c.102 others(428): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATGTA TATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CTGGGGTT others(402): Show CTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCT GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGG TTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCT GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCA GGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGG GTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0072 a0004c0004t0001g0072	1	466	0.0022	409	c.48 others(420): Show c.4881_*4882insCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCC TAACCCCCTGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TPO_chr2_1408463_1548673	1480810	C C	CGTCCACA others(402): Show CGTCCACACCACCTCCCTCCTCCTGCTGCATCCGTCCACACCACCTCCCT CCTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCATCCGTCCACACC ACCTCCCTCCTCCTTCATCCGTCCAAACCATGTTTCTCCTGCTGCATCCG TCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTTCCTCCTGC TGCATCCGTCCACACCACCTCCCTCCTCCTTCATCCGTCCAAACCATGTT TCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCAC ACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTTCCTCCTGCTGCAT CCGTCCACACCACGTCCCTGCTGCTGCGTCTGTCCTCACCACGTCCCTGC TGCTGCGTCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0109 a0004c0007t0004g0109	1	130	0.0077	409	c.133 others(428): Show c.1338+3217_1338+3218insCTCCCTCCTCCTGCTGCATCCGTCCA CACCACCTCCCTCCTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCA TCCGTCCACACCACCTCCCTCCTCCTTCATCCGTCCAAACCATGTTTCTC CTGCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCA CCTTCCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCTTCATCCGT CCAAACCATGTTTCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCT GCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTTC CTCCTGCTGCATCCGTCCACACCACGTCCCTGCTGCTGCGTCTGTCCTCA CCACGTCCCTGCTGCTGCGTCTGTCCACACCAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(402): Show AAGGAAGGAGGGAGGGAGCGAGGTAGGAAGGAAGGAAGGAAGGAGGAAGG AAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGA GGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGAAAGAGTGA GGAAGGAAGGAAAGAGGGAGGAAGGAAGGAAGGGAGAGAGGAAGGAAGGA AGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCAAGGAAGGA AGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGA AAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAG GGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAG GGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	268	0.0037	409	c.30+ others(426): Show c.30+17506_30+17507insGGGAGGGAGCGAGGTAGGAAGGAAGGAA GGAAGGAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAG GAGGAAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGG AACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGAAGGAAGGGAGA GAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAA GAGCAAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAG GAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGG AGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAG AAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
WDR7_chr18_56646359_57034792	57024900	A A	ACTATGAT others(402): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTAT GTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATA TGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAGGAT TTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGACTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0020	a0001c0007t0020g0120 a0001c0007t0020g0120	1	144	0.0069	409	c.427 others(428): Show c.4270-2083_4270-2082insCAGGATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATT CTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGACTATGAT AGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATA GGGATATGTGAGCTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBED4_chr22_49848844_49895080	49879851	C C	CTGTTTCT others(402): Show CTGTTTCTATTGGTTGGTTTTTCTCCTGGTCAGTGTCTGGGCCTGTTTCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGGTCTGGGCCTGTTTCTATTGGTTGGTTTTTCTCCTGGTCAG TGTCTGGGCG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	316	0.0032	409	c.-32 others(428): Show c.-329-3434_-329-3433insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGGTCTGGGCCTGTTTCTA TTGGTTGGTTTTTCTCCTGGTCAGTGTCTGGGCGTGTTTCTATTGGTTGG TTTTTCTCCTGGTCAGTGTCTGGGCCTGTTTCT	ZBED4	ENSG00000100426.7	transcript	ENST00000216268.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(402): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATATCATATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATCATATATATGATATATATCAC ATATATATATCATATATATCACATATATATCATATATATCATATATATAT CATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	350	0.0029	409	c.-34 others(420): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATATCATATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATCATATA TATGATATATATCACATATATATATCATATATATCACATATATATCATAT ATATCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CGCCCCCC others(403): Show CGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAG GGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0003 a0013c0022t0003	a0013c0022t0003g0029 a0013c0022t0003g0029	1	388	0.0026	410	c.33+ others(427): Show c.33+13574_33+13575insGCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CGCCCCCC others(403): Show CGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0204 a0001c0006t0010g0204	1	388	0.0026	410	c.33+ others(427): Show c.33+13574_33+13575insGCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(403): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0306 a0004c0004t0004g0306	1	388	0.0026	410	c.33+ others(427): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(403): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18981.hp2 NA19058.hp2 others(3): Show NA18950.hp2 NA18981.hp2 NA19058.hp2 NA19068.hp2 NA19074.hp1 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0215 a0004c0004t0004g0302 a0004c0004t0004g0307 others(3): Show a0004c0004t0004g0215 a0004c0004t0004g0302 a0004c0004t0004g0307 a0004c0004t0004g0341 a0004c0004t0004g0360 a0004c0004t0004g0378	6	388	0.0155	410	c.33+ others(427): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17754332	G G	GTTTTTTT others(403): Show GTTTTTTTTTTTTTTTTTTTTTTCCTCTCACATATTCTTCTTTGTTTTAT TTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTCGT TCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TATGTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0355 a0001c0003t0003g0355	1	366	0.0027	410	c.-11 others(421): Show c.-1197_-1196insTTTTTTTTTTTTTTTTTTTTTTCCTCTCACATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTG TGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCC ACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCC CCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGT GTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGG TGTTTGGTTTTTCGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAA TTTCATCCATGTCCCTATGTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding		1000		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688849	G G	GAGAGGGA others(403): Show GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGAGAGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGAGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0318 a0007c0013t0001g0318	1	354	0.0028	410	c.523 others(429): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAG GGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAG GGAGAGGGAGAGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21			chr10	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(403): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGG AGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	352	0.0028	410	c.51 others(421): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCCTTCCCTCCTCC CCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCC TCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCC CTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTC CTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCC TCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCT CCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14774688	T T	TTCTTTCT others(403): Show TTCTTTCTTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTCTTTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0100 a0002c0002t0003g0100	1	218	0.0046	410	c.32- others(423): Show c.32-383_32-382insGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAAGAAAGA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AGPAT2_chr9_136668143_136692457	136675317	C C	CAGGGGGC others(403): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG AGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	374	0.0027	410	c.589 others(425): Show c.589-511_589-510insCCCTCCCTGCTCCCAGTCCCCAGCCTACCT GCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCC CTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCC TGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAG TCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCC TACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTG GCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCC CTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCT GCCAGTCCCCAGCCTACCTGCTGGCCCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675347	C C	CAGCAGGG others(403): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	374	0.0027	410	c.589 others(425): Show c.589-541_589-540insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675347	C C	CAGCAGGG others(403): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0161 a0007c0010t0001g0161	1	374	0.0027	410	c.589 others(425): Show c.589-541_589-540insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar

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