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
RICTOR_chr5_38932920_39079399	39075296	C C	CACACACA others(103): Show CACACACACACACACACACACACACACACACACACCTGGCCACTGACCCA GCAGCTTTCTCTTGAACTAGGGATTTTAATTCTAGAAACTGCTTAGTTAA TACGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0088 a0001c0001t0022g0088	1	338	0.0030	110	c.-92 others(119): Show c.-920_-919insACACATACGTATTAACTAAGCAGTTTCTAGAATTAA AATCCCTAGTTCAAGAGAAAGCTGCTGGGTCAGTGGCCAGGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		898		chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075300	C C	CACACACA others(103): Show CACACACACACACACACACACACACACACACACACCTGGCCACTGACCCA GCAGCTTTCTCTTGAACTAGGGATTTTAATTCTAGAAACTGCTTAGTTAA TACGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0087 a0001c0001t0022g0087	1	338	0.0030	110	c.-92 others(119): Show c.-924_-923insACACATACGTATTAACTAAGCAGTTTCTAGAATTAA AATCCCTAGTTCAAGAGAAAGCTGCTGGGTCAGTGGCCAGGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		902		chr5	TogoVar
RNF17_chr13_24759169_24884921	24882090	A A	ATAGATAT others(103): Show ATAGATATATAATCTATATAGATACATCTATATAGATATATAATCTATAT AGCTATATAGATACATCTATATAGCTATATAGATACATCTATATAGCTAT ATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02027.hp1 HG02083.hp2 others(4): Show HG01928.hp1 HG02027.hp1 HG02083.hp2 NA18971.hp2 NA18991.hp2 NA19000.hp2 NA19080.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0002 a0004c0004t0002 a0002c0003t0002 a0004c0004t0002	a0002c0003t0002g0374 a0002c0003t0002g0386 a0002c0003t0002g0389 others(4): Show a0002c0003t0002g0374 a0002c0003t0002g0386 a0002c0003t0002g0389 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0124 a0004c0004t0002g0163	7	426	0.0164	110	c.23 others(121): Show c.2364_*2365insTAGATATATAATCTATATAGATACATCTATATAG ATATATAATCTATATAGCTATATAGATACATCTATATAGCTATATAGATA CATCTATATAGCTATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2170		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882090	A A	ATAGATAT others(103): Show ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTAT ATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG03239.hp2 HG01167.hp1 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0240 a0003c0006t0001g0176 a0001c0001t0001g0240 a0003c0006t0001g0176	2	426	0.0047	110	c.23 others(121): Show c.2364_*2365insTAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTA TATAGATACATCTATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2170		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(103): Show GATATATAATCTATATAGATACATCTATATAGATATATAATCTATATAGC TATATAGATACATCTATATAGCTATATAGATACATCTATATAGATACATC TATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0139 a0004c0004t0002g0139	1	426	0.0024	110	c.24 others(121): Show c.2407_*2408insATATATAATCTATATAGATACATCTATATAGATA TATAATCTATATAGCTATATAGATACATCTATATAGCTATATAGATACAT CTATATAGATACATCTATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355524	G G	GAGGAAGA others(103): Show GAGGAAGAAGTGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAAT GGGGGCTTACA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0072 a0072	a0072c0067 a0072c0067	a0072c0067t0008 a0072c0067t0008	a0072c0067t0008g0206 a0072c0067t0008g0206	1	292	0.0034	110	c.108 others(129): Show c.10862+948_10862+949insAGGAAGAAGTGGGGTGACCGGGAATG GGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAG GAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
ROBO1_chr3_78592239_79772998	79771622	A A	ATGTACAC others(103): Show ATGTACACATATGTATACACATATACGTATGTACACATATGTATACACAT ATACGTATGTACACATATGTATACACATATACGTATGTACACATATGTAT ACACATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03579.hp2 HG02451.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0014 a0003c0009t0017 a0001c0001t0014 a0003c0009t0017	a0001c0001t0014g0041 a0003c0009t0017g0042 a0001c0001t0014g0041 a0003c0009t0017g0042	2	44	0.0455	110	c.-39 others(121): Show c.-3922_-3921insCGTATATGTGTATACATATGTGTACATACGTATA TGTGTATACATATGTGTACATACGTATATGTGTATACATATGTGTACATA CGTATATGTGTATACATATGTGTACA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3625		chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108165	C C	CATATGTA others(103): Show CATATGTATACACATATGCATATATATGTATACACATATGCATATATATG TATACACATATGCATATATATGTATACACATATGCATATATATGTATACA CATATGCATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	160	0.0063	110	c.388 others(127): Show c.388+9873_388+9874insGTATACACATATGCATATATATGTATAC ACATATGCATATATATGTATACACATATGCATATATATGTATACACATAT GCATATATATGTATACACATATGCATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108207	T T	TATATATG others(103): Show TATATATGTATACACATATGCATATATATGTATACACATATGCATATATA TGTATACACATATGCATATATATGTATACACATATGCATATATATATGTA TACACATATGC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	160	0.0063	110	c.388 others(127): Show c.388+9873_388+9874insGTATACACATATGCATATATATGTATAC ACATATGCATATATATGTATACACATATGCATATATATGTATACACATAT GCATATATATATGTATACACATATGCATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60815941	T T	TATATATA others(103): Show TATATATACACTATAAATAGTGTATATATACTATAAATAGTGTATATATA CTATAAATAGTATATGTATTTATATAGTATAAATAGTATATGTATTTATT TACTATAAATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0090 a0001c0001t0012g0090	1	118	0.0085	110	c.167 others(131): Show c.167-137256_167-137255insTATTTATAGTAAATAAATACATAT ACTATTTATACTATATAAATACATATACTATTTATAGTATATATACACTA TTTATAGTATATATACACTATTTATAGTGTATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	287925	T T	TCCCTCTC others(103): Show TCCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACTGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	133	0.0075	110	c.352 others(127): Show c.352-6072_352-6071insTGCGAGGTCTGACGGTGGAGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACAGTGGAGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319896	G G	GGAGGGAG others(103): Show GGAGGGAGGGGGAGGGAGGGGGAAGGAGATTGAGGGGAGGGAGGGGGAGG GAGACTGAGGGGAGGGAGGGGGAGGGAGATTGAGGGGAGGGAGGGGGAGG GAGACTGAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	110	c.222 others(125): Show c.222-348_222-347insTCCTCAGTCTCCCTCCCCCTCCCTCCCCTC AATCTCCCTCCCCCTCCCTCCCCTCAGTCTCCCTCCCCCTCCCTCCCCTC AATCTCCTTCCCCCTCCCTCCCCCTCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319896	G G	GGAGGGAG others(103): Show GGAGGGAGGGGGAGGGAGGGGGAGGGAGATTGAGGGGAGGGAGGGGGAGG GAGACTGAGGGGAGGGAGGGGGAGGGAGATTGAGGGGAGGGAGGGGGAGG GAGACTGAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01884.hp1 others(4): Show HG01361.hp1 HG01496.hp1 HG01884.hp1 HG02071.hp1 HG02155.hp2 HG02738.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0045 a0001c0002t0001g0001 a0001c0002t0001g0002 others(4): Show a0001c0001t0001g0045 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0002g0038 a0001c0002t0007g0112	7	133	0.0526	110	c.222 others(125): Show c.222-348_222-347insTCCTCAGTCTCCCTCCCCCTCCCTCCCCTC AATCTCCCTCCCCCTCCCTCCCCTCAGTCTCCCTCCCCCTCCCTCCCCTC AATCTCCCTCCCCCTCCCTCCCCCTCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	319896	G G	GGAGGGAG others(103): Show GGAGGGAGGGGGAGGGAGGGGGAGGGAGATTGAGGGGAGGGAGGGGGAGG GAGACTGAGGGGAGGGAGGGGGGAGGGAGATTGAGGGGAGGGAGGGGGAG GAGACTGAGGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0037 a0008c0013t0003g0037	1	133	0.0075	110	c.222 others(125): Show c.222-348_222-347insTCCTCAGTCTCCTCCCCCTCCCTCCCCTCA ATCTCCCTCCCCCCTCCCTCCCCTCAGTCTCCCTCCCCCTCCCTCCCCTC AATCTCCCTCCCCCTCCCTCCCCCTCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPL28_chr19_55380932_55397085	55396548	C C	CACCCATC others(103): Show CACCCATCCCCACCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCTCCCCTCCCCACCC ATCCCCACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	110	c.82 others(121): Show c.8216_*8217insACCCATCCCCACCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCC CTCCCCTCCCCACCCATCCCCACCCA	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding		4464		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(103): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTC TCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	366	0.0027	110	c.-15 others(121): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(103): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0047 a0001c0001t0015g0047	1	366	0.0027	110	c.-15 others(121): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80748179	A A	AGGGGCTG others(103): Show AGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTG GATGGGGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTT GGGTGGATGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0032 a0001c0074t0032	a0001c0074t0032g0061 a0001c0074t0032g0061	1	196	0.0051	110	c.655 others(127): Show c.655-5777_655-5776insGGGGGCTGCGGTGTGTGTTTGGAGGCCG TGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGGTGTGTGTTTGGA GGCCGTGGCGGGAGGGCCTGTTGGGTGGATGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748199	G G	GGAGGCCA others(103): Show GGAGGCCATGGCGGGAGGGCCTGTTGGGTGGATGGAGGGGCTGCGGTGTG TGTTTAGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGACTGCG GTGTGTGTTTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0059 a0001c0084t0059	a0001c0084t0059g0165 a0001c0084t0059g0165	1	196	0.0051	110	c.655 others(127): Show c.655-5805_655-5804insATGGCGGGAGGGCCTGTTGGGTGGATGG AGGGGCTGCGGTGTGTGTTTAGAGGCCGTGGCGGGAGGACCTGTTGGGTG GATGGAGGGACTGCGGTGTGTGTTTAGAGGCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748509	A A	ACTGTGGT others(103): Show ACTGTGGTGTGTGTTTAGAGGCCGTGGCGAGAGGACCTGTTGGGTGGATG GAGGGACTGCGGTGTGTGTTTAGAGGCTGTGGCGGGAGGACCTGTTGGGT GGATGGAGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02109.hp2 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0065 a0001c0009 a0001c0065	a0001c0009t0012 a0001c0065t0007 a0001c0009t0012 a0001c0065t0007	a0001c0009t0012g0103 a0001c0065t0007g0101 a0001c0009t0012g0103 a0001c0065t0007g0101	2	196	0.0102	110	c.655 others(127): Show c.655-5498_655-5497insTGGTGTGTGTTTAGAGGCCGTGGCGAGA GGACCTGTTGGGTGGATGGAGGGACTGCGGTGTGTGTTTAGAGGCTGTGG CGGGAGGACCTGTTGGGTGGATGGAGGGGCTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSF1_chr11_77655009_77825722	77778115	A A	AGGAGGAG others(103): Show AGGAGGAGGGGGGAAGGGGGGGAGGGGAGTGGAGGGGGAGGGAAGAGGGG GAGGGAAGGGGGGAATGGAGCGGGAGGGAAGGGGGAATGCAGGGGGAGTG GAGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0009 others(15): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0017 a0002c0003 a0003c0004 a0004c0005 a0004c0016 a0005c0006 a0006c0007 a0007c0018 a0008c0014 a0009c0008 a0010c0013 a0011c0012 a0012c0011 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0009t0036 a0001c0010t0001 a0001c0017t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0021 a0002c0003t0050 a0003c0004t0002 a0004c0005t0020 a0004c0005t0049 a0004c0016t0045 a0005c0006t0012 a0006c0007t0001 a0006c0007t0064 a0007c0018t0032 a0008c0014t0005 a0009c0008t0003 a0010c0013t0007 a0011c0012t0001 a0012c0011t0007 a0013c0015t0004	a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 others(323): Show a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0306 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0160 a0001c0001t0004g0165 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0005g0038 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0005g0291 a0001c0001t0005g0302 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0127 a0001c0001t0007g0155 a0001c0001t0007g0164 a0001c0001t0007g0178 a0001c0001t0007g0181 a0001c0001t0008g0267 a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0009g0242 a0001c0001t0009g0245 a0001c0001t0011g0143 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0013g0273 a0001c0001t0019g0161 a0001c0001t0019g0176 a0001c0001t0022g0144 a0001c0001t0023g0275 a0001c0001t0025g0259 a0001c0001t0027g0260 a0001c0001t0028g0149 a0001c0001t0038g0170 a0001c0001t0039g0166 a0001c0001t0040g0117 a0001c0001t0041g0249 a0001c0001t0042g0173 a0001c0001t0043g0157 a0001c0001t0044g0138 a0001c0001t0046g0171 a0001c0001t0047g0102 a0001c0001t0048g0159 a0001c0001t0051g0183 a0001c0001t0055g0148 a0001c0001t0056g0141 a0001c0001t0058g0331 a0001c0001t0059g0310 a0001c0001t0060g0257 a0001c0001t0062g0284 a0001c0001t0065g0150 a0001c0001t0066g0172 a0001c0001t0067g0158 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0010g0350 a0001c0002t0010g0351 a0001c0002t0014g0009 a0001c0002t0014g0011 a0001c0002t0015g0051 a0001c0002t0015g0074 a0001c0002t0016g0005 a0001c0002t0016g0008 a0001c0002t0017g0006 a0001c0002t0017g0007 a0001c0002t0018g0046 a0001c0002t0018g0065 a0001c0002t0024g0026 a0001c0002t0024g0031 a0001c0002t0029g0017 a0001c0002t0030g0085 a0001c0002t0033g0012 a0001c0002t0034g0010 a0001c0002t0035g0057 a0001c0002t0037g0060 a0001c0009t0036g0015 a0001c0010t0001g0337 a0001c0017t0001g0095 a0002c0003t0002g0099 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0233 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0238 a0002c0003t0002g0239 a0002c0003t0002g0240 a0002c0003t0002g0301 a0002c0003t0002g0345 a0002c0003t0002g0346 a0002c0003t0002g0347 a0002c0003t0002g0348 a0002c0003t0008g0266 a0002c0003t0012g0222 a0002c0003t0021g0209 a0002c0003t0021g0212 a0002c0003t0050g0213 a0003c0004t0002g0225 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0234 a0003c0004t0002g0237 a0004c0005t0020g0199 a0004c0005t0020g0200 a0004c0005t0049g0202 a0004c0016t0045g0201 a0005c0006t0012g0001 a0005c0006t0012g0002 a0006c0007t0001g0349 a0006c0007t0064g0321 a0007c0018t0032g0014 a0008c0014t0005g0258 a0009c0008t0003g0034 a0010c0013t0007g0262 a0011c0012t0001g0281 a0012c0011t0007g0179 a0013c0015t0004g0190	326	352	0.9261	110	c.188 others(129): Show c.188-13427_188-13426insCCCACCCCCTCCACTCCCCCTGCATT CCCCCTTCCCTCCCGCTCCATTCCCCCCTTCCCTCCCCCTCTTCCCTCCC CCTCCACTCCCCTCCCCCCCTTCCCCCCTCCTCC	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15			chr11	TogoVar
RSRC1_chr3_158105089_158550730	158228957	C C	CACACATA others(103): Show CACACATACGTGTATATGTGTGTATAAACACACATACGTGTATATGTGTG TATAAACACACATACGTGTATATGTGTGTATAAACACACATACGTGTATA TGTGTGTATAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0268 a0001c0001t0012g0268	1	276	0.0036	110	c.494 others(129): Show c.494+25717_494+25826dupATACGTGTATATGTGTGTATAAACAC ACATACGTGTATATGTGTGTATAAACACACATACGTGTATATGTGTGTAT AAACACACATACGTGTATATGTGTGTATAAACAC	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16645913	T T	TATATACA others(103): Show TATATACATATATGTACATATATGTATATATACATATATGTATATATACG TATATATATGTGTATATATACATATATGTATATATACATATATACATATA TGTATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG03453.hp2 HG01109.hp1 HG02257.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0011 a0001c0002t0060 a0001c0001t0021 a0001c0002t0011 a0001c0002t0060	a0001c0001t0021g0041 a0001c0002t0011g0071 a0001c0002t0060g0170 a0001c0001t0021g0041 a0001c0002t0011g0071 a0001c0002t0060g0170	3	190	0.0158	110	c.731 others(129): Show c.731+49109_731+49110insGTATATATACATATATGTATATATGT ATATATACATATATGTATATATACACATATATATACGTATATATACATAT ATGTATATATACATATATGTACATATATGTATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16785407	T T	TATATATA others(103): Show TATATATACATATATACATATATATACACATATACATATATACATATATA TATACATATATACATATATATACACATATATACATATATACATATATATA TACATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0025 a0001c0001t0038g0025	1	190	0.0053	110	c.110 others(127): Show c.110-3324_110-3323insGTATATATGTATATATATATGTATATAT GTATATATGTGTATATATATGTATATATGTATATATATATGTATATATGT ATATGTGTATATATATGTATATATGTATATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	2/8			chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87626420	G G	GTGTCATA others(103): Show GTGTCATATATATTGTCATATATATGTGTCATATATATTGTCATATATAT GTGTCATATATATTGTCATATATATGTGTCATATATATGTCATATATATG TGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0170 a0001c0001t0017g0170	1	202	0.0050	110	c.-24 others(121): Show c.-2404_-2403insTGTCATATATATTGTCATATATATGTGTCATATA TATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATA TATGTCATATATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1977		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34849455	A A	ATATTATA others(103): Show ATATTATATATAGTATATATAATATATTATATATAGTATAATATATAATA TATAGTATATATATAGCATATATATAATATATTATATATAGTATAATATA TAATATATAGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02809.hp2 HG02886.hp1 HG00741.hp1 HG02809.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0003 a0001c0002t0006 a0001c0001t0020 a0001c0002t0003 a0001c0002t0006	a0001c0001t0020g0068 a0001c0002t0003g0145 a0001c0002t0006g0101 a0001c0001t0020g0068 a0001c0002t0003g0145 a0001c0002t0006g0101	3	170	0.0177	110	c.613 others(129): Show c.613+10018_613+10019insACTATATATTATATATTATACTATAT ATAATATATTATATATATGCTATATATATACTATATATTATATATTATAC TATATATAATATATTATATATACTATATATAATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34849455	A A	ATATTATA others(103): Show ATATTATATATAGTATATATAATATATTATATATAGTATAATATATAATA TATAGTATATATATAGTATATATATAATATATTATATATAGTATAATATA TAATATATAGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp1 HG02523.hp1 others(5): Show HG00642.hp1 HG01433.hp1 HG02523.hp1 HG02602.hp2 HG02738.hp2 HG03491.hp1 NA18983.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0003c0004t0001	a0001c0001t0001g0098 a0001c0001t0002g0013 a0001c0001t0002g0031 others(5): Show a0001c0001t0001g0098 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0106 a0001c0001t0012g0085 a0003c0004t0001g0164	8	170	0.0471	110	c.613 others(129): Show c.613+10018_613+10019insACTATATATTATATATTATACTATAT ATAATATATTATATATATACTATATATATACTATATATTATATATTATAC TATATATAATATATTATATATACTATATATAATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
SAMD11_chr1_918923_949574	934789	G G	GGCGGGGG others(103): Show GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0205 a0001c0001t0030g0205	1	434	0.0023	110	c.843 others(125): Show c.843-981_843-980insGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGGGGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGTGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934856	C C	CTGCTCCG others(103): Show CTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	434	0.0023	110	c.843 others(125): Show c.843-916_843-915insTGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGGCGGCTGCGTTACAGGTGGGCGGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SARDH_chr9_133658560_133743352	133668832	C C	CCCTCACC others(103): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCACCCTCCCTCTCT CTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTCCCTCTCCCTC ACCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0174 a0001c0016t0003g0174	1	262	0.0038	110	c.249 others(129): Show c.2495+1751_2495+1752insAGAGGGAAGGTGAGGGAGAGGGAGGT GAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGA GAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668832	C C	CCCTCACC others(103): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCACCCTCCCTCTCT CTCTCCTTCCCTCTCCCTTACCCTCCTCTCCCTCACCTTCCCTCTCCCTC ACCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0060 a0002c0034t0003g0060	1	262	0.0038	110	c.249 others(129): Show c.2495+1751_2495+1752insAGAGGGAAGGTGAGGGAGAGGGAAGG TGAGGGAGAGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGA GAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBK2_chr19_55523611_55542133	55537720	G G	GCCCCAGC others(103): Show GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTC CTCCCTCAAACCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCA GGAGTCCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0236 a0003c0005t0001g0236	1	434	0.0023	110	c.-67 others(119): Show c.-670_-669insGCCTGGACTCCTGGGTCTGAGGGAGGAGGGACTGGG GCCTGGACTCCTGGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGG	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding		588		chr19	TogoVar
SBK3_chr19_55535656_55550543	55537720	G G	GCCCCAGC others(103): Show GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTC CTCCCTCAAACCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCA GGAGTCCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	438	0.0023	110	c.31 others(121): Show c.3125_*3126insGCCTGGACTCCTGGGTCTGAGGGAGGAGGGACTG GGGCCTGGACTCCTGGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		2935		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430103	A A	AGTATTTG others(103): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATAAATACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0194 a0001c0001t0015g0195 a0001c0001t0015g0194 a0001c0001t0015g0195	2	332	0.0060	110	c.632 others(127): Show c.632+8149_632+8150insGTTTATAAATACAGTATTTGTTTATAAA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(103): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18968.hp1 HG00597.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0283 a0001c0001t0014g0293 a0001c0001t0003g0283 a0001c0001t0014g0293	2	332	0.0060	110	c.632 others(127): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CTTCTTTC others(103): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	332	0.0030	110	c.852 others(127): Show c.852+1458_852+1459insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACGTAT others(103): Show ATACGTATATATATATATATATATATATATATACATATATATATATATAT ATATACATATATATATATATATATACGTATATATATATACATATATATAT ATATATATACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0191 a0002c0003t0005g0191	1	210	0.0048	110	c.233 others(127): Show c.233-6844_233-6843insCGTATATATATATATATATATGTATATA TATATACGTATATATATATATATATATGTATATATATATATATATATATG TATATATATATATATATATATATATATACGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCGB1C1_chr11_188078_199575	194833	A A	ATGGGGAC others(103): Show ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAG GGGCACACAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0009 a0001c0004t0001g0001 a0001c0004t0001g0009	2	354	0.0057	110	c.38 others(119): Show c.383_*384insTGGGGACATCAGGAACACACTCAGGGCCACAGCCAC ACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAA AGTCCCCACAGAGGGGCACACAAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		259		chr11	TogoVar
SCGB1C1_chr11_188078_199575	194939	A A	ATGGGGAC others(103): Show ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAG GGGCACACAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	110	c.48 others(119): Show c.489_*490insTGGGGACATCAGGAACACACTCAGGGCCACAGCCAC ACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCAAA AGTCCCCACAGAGGGGCACACAAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		365		chr11	TogoVar
SCGB1C1_chr11_188078_199575	194939	A A	ATGGGGAC others(103): Show ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAG GGGCACACAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01074.hp2 others(9): Show HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG02615.hp2 HG02970.hp2 NA18969.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0002 a0001c0004t0001 a0002c0001t0002	a0001c0004t0001g0001 a0002c0001t0002g0006 a0001c0004t0001g0001 a0002c0001t0002g0006	12	354	0.0339	110	c.48 others(119): Show c.489_*490insTGGGGACATCAGGAACACACTCAGGGCCACAGCCAC ACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAA AGTCCCCACAGAGGGGCACACAAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		365		chr11	TogoVar
SCGB1C2_chr17_132569_144067	139479	C C	CACAGAGG others(103): Show CACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGGG GCACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACA CAGACCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18980.hp2 NA18952.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	402	0.0050	110	c.53 others(119): Show c.537_*538insACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAG TCCCCACAGAGGGGCACACAAATGGGGACATCAGGAACACACTCAGGGCC ACAGCCACACACACAGACCCACAT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		413		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	G G	GTCTCTGC others(103): Show GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0144 a0003c0004t0003g0144	1	290	0.0035	110	c.166 others(127): Show c.1662+265_1662+266insCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	G G	GTCTCTGC others(103): Show GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18967.hp2 HG03490.hp1 NA18967.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0145 a0003c0004t0003g0152 a0003c0004t0003g0145 a0003c0004t0003g0152	2	290	0.0069	110	c.166 others(127): Show c.1662+265_1662+266insCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCCCGTGT others(103): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0119 a0002c0003t0004g0119	1	290	0.0035	110	c.166 others(127): Show c.1662+336_1662+337insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288361	T T	TCCGTCCC others(103): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02145.hp1 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0069 a0002c0003t0001g0026 a0002c0003t0001g0069	2	290	0.0069	110	c.166 others(127): Show c.1662+336_1662+337insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(103): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0138 a0003c0004t0003g0138	1	290	0.0035	110	c.166 others(127): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCCCGTGT others(103): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	290	0.0035	110	c.166 others(127): Show c.1662+541_1662+542insGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288601	T T	TCCGTCCC others(103): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	290	0.0035	110	c.166 others(127): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288700	C C	CCCGTGTC others(103): Show CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0286 a0008c0007t0004g0286	1	290	0.0035	110	c.166 others(127): Show c.1662+665_1662+666insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCATTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288881	T T	TCCGTCCC others(103): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0289 a0005c0016t0001g0289	1	290	0.0035	110	c.166 others(127): Show c.1662+851_1662+852insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)