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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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
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	44	0.0227	43	c.88+ others(60): Show c.88+39628_88+39629insTTTTCTTTTCTTTTCTTTCTTTCCTTTC TTTCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77123788	G G	GATAGATA others(36): Show GATAGATATATAATCTATCTATATAGATACACATATCTATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04228.hp1 NA18948.hp1 others(5): Show HG02738.hp2 HG04228.hp1 NA18948.hp1 NA18960.hp2 NA18968.hp2 NA18973.hp1 NA19012.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0007	a0001c0001t0001g0074 a0001c0001t0002g0065 a0001c0001t0002g0107 others(5): Show a0001c0001t0001g0074 a0001c0001t0002g0065 a0001c0001t0002g0107 a0001c0001t0004g0024 a0001c0001t0004g0067 a0001c0001t0007g0158 a0001c0001t0008g0032 a0001c0002t0007g0157	8	160	0.0500	43	c.388 others(62): Show c.388+25479_388+25521dupCATATCTATATACATAGATATATAAT CTATCTATATAGATACA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0071 a0001c0001t0042g0071	1	320	0.0031	43	c.142 others(60): Show c.142-8255_142-8254insTCTCTCTCTCTCCCCTCTCTCTCTCTCT CCTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(36): Show GAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	320	0.0031	43	c.142 others(60): Show c.142-8255_142-8254insTCTCTCTCTCTCTCTCTCCCCTCTCTCT CTCTCTCCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPA1_chr17_1825005_1905082	1877402	G G	GGAAACAG others(36): Show GGAAACAGAAGGCTCAGCTCTGCGGAGGGCAGTGGGCTCGCCGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0026 a0001c0001t0030g0026	1	402	0.0025	43	c.690 others(58): Show c.690+113_690+155dupAGGGCAGTGGGCTCGCCGAGAAACAGAAGG CTCAGCTCTGCGG	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA2_chr1_27886524_27919575	27916782	T T	TCCACCCT others(36): Show TCCACCCTCCTCCTCCTCTCTCCTCCTCCTCCTCTTTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	364	0.0028	43	c.-23 others(54): Show c.-2340_-2339insGAGGAGGAAAGAGGAGGAGGAGGAGAGAGGAGGA GGAGGGTGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2208		chr1	TogoVar
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(36): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	133	0.0075	43	c.-37 others(54): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG03139.hp1 HG00323.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0071 a0001c0002t0070 a0001c0001t0071 a0001c0002t0070	a0001c0001t0071g0154 a0001c0002t0070g0128 a0001c0001t0071g0154 a0001c0002t0070g0128	2	266	0.0075	43	c.-28 others(52): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPH3A_chr12_112786748_112903881	112825037	A A	AGGAAGCT others(36): Show AGGAAGCTCATTCTCGGGGACTGAGCCTCTTTGCACTCAGCAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG03540.hp2 others(1): Show HG02717.hp2 HG03209.hp2 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0013 a0001c0001t0194 a0001c0003t0141 others(1): Show a0001c0001t0013 a0001c0001t0194 a0001c0003t0141 a0001c0013t0085	a0001c0001t0013g0252 a0001c0001t0194g0094 a0001c0003t0141g0084 others(1): Show a0001c0001t0013g0252 a0001c0001t0194g0094 a0001c0003t0141g0084 a0001c0013t0085g0242	4	266	0.0150	43	c.-18 others(60): Show c.-18-3261_-18-3219dupAAGCTCATTCTCGGGGACTGAGCCTCTT TGCACTCAGCAGGGG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG02622.hp2 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0002 a0002c0002t0002g0004	2	276	0.0073	43	c.-17 others(54): Show c.-1706_-1705insTATATATATATATATATATATATATATATATATA TTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL18A_chr19_17854910_17868319	17855230	C C	CGCCTTCA others(36): Show CGCCTTCAGAGGAAGCAAACATTATTCCTTAGCATCACACCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	43	c.-47 others(54): Show c.-4727_-4726insGCCTTCAGAGGAAGCAAACATTATTCCTTAGCAT CACACCCTG	RPL18A	ENSG00000105640.13	transcript	ENST00000222247.10	protein_coding		4679		chr19	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	43	c.26 others(54): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0070 a0001c0001t0001g0089	2	330	0.0061	43	c.472 others(58): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01952.hp2 HG02738.hp1 HG00438.hp1 HG01952.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0039 a0001c0001t0006 a0001c0001t0014 a0001c0001t0039	a0001c0001t0006g0340 a0001c0001t0014g0264 a0001c0001t0039g0341 a0001c0001t0006g0340 a0001c0001t0014g0264 a0001c0001t0039g0341	3	366	0.0082	43	c.-15 others(54): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCT CTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	366	0.0027	43	c.-15 others(54): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG CTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03942.hp2 HG04184.hp2 HG02055.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0039 a0001c0001t0105 a0001c0001t0006 a0001c0001t0039 a0001c0001t0105	a0001c0001t0006g0316 a0001c0001t0039g0301 a0001c0001t0105g0313 a0001c0001t0006g0316 a0001c0001t0039g0301 a0001c0001t0105g0313	3	366	0.0082	43	c.-15 others(54): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CGCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG04115.hp2 HG00738.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0314 a0001c0001t0018g0323 a0001c0001t0006g0314 a0001c0001t0018g0323	2	366	0.0055	43	c.-15 others(54): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCGCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80601278	G G	GACAAGGT others(36): Show GACAAGGTGTCCCCTCCCTTCCCTTTCTGAATTCCTGCCCCTGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA19030.hp1 HG02109.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0067 a0001c0005 a0001c0067	a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 a0001c0005t0026 a0001c0005t0067 a0001c0067t0068	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110	3	196	0.0153	43	c.163 others(62): Show c.163-24410_163-24409insAGGTGTCCCCTCCCTTCCCTTTCTGA ATTCCTGCCCCTGCACA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80601282	G G	GGGTGTCC others(36): Show GGGTGTCCCCTCCCTTCCCTTTCTGAATTCCTGCCCCTGCACAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(129): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(79): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0066 a0001c0070 a0001c0072 a0001c0074 a0001c0075 a0001c0076 a0001c0078 a0001c0079 a0001c0080 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0002c0062 a0002c0063 a0003c0069 a0005c0092	a0001c0001t0015 a0001c0002t0008 a0001c0002t0015 others(121): Show a0001c0001t0015 a0001c0002t0008 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0003t0001 a0001c0003t0004 a0001c0003t0014 a0001c0003t0038 a0001c0004t0001 a0001c0004t0014 a0001c0004t0023 a0001c0004t0035 a0001c0005t0026 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0022 a0001c0006t0063 a0001c0006t0076 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0007t0069 a0001c0007t0084 a0001c0008t0021 a0001c0008t0027 a0001c0008t0036 a0001c0008t0054 a0001c0008t0081 a0001c0009t0001 a0001c0009t0006 a0001c0009t0028 a0001c0009t0078 a0001c0010t0056 a0001c0010t0071 a0001c0011t0024 a0001c0011t0029 a0001c0011t0047 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0013t0021 a0001c0015t0008 a0001c0015t0046 a0001c0016t0029 a0001c0016t0031 a0001c0017t0015 a0001c0018t0016 a0001c0018t0017 a0001c0019t0003 a0001c0019t0042 a0001c0020t0048 a0001c0021t0018 a0001c0021t0079 a0001c0022t0001 a0001c0022t0022 a0001c0023t0008 a0001c0024t0003 a0001c0024t0037 a0001c0025t0051 a0001c0025t0052 a0001c0026t0043 a0001c0027t0016 a0001c0028t0006 a0001c0029t0025 a0001c0029t0085 a0001c0030t0003 a0001c0031t0011 a0001c0031t0027 a0001c0033t0023 a0001c0034t0004 a0001c0036t0004 a0001c0037t0004 a0001c0037t0053 a0001c0038t0007 a0001c0039t0061 a0001c0040t0066 a0001c0041t0004 a0001c0042t0055 a0001c0043t0008 a0001c0044t0045 a0001c0046t0024 a0001c0047t0012 a0001c0048t0073 a0001c0049t0011 a0001c0050t0007 a0001c0051t0060 a0001c0052t0003 a0001c0053t0007 a0001c0055t0049 a0001c0056t0001 a0001c0057t0077 a0001c0058t0004 a0001c0059t0080 a0001c0060t0001 a0001c0066t0058 a0001c0070t0020 a0001c0072t0006 a0001c0074t0032 a0001c0075t0012 a0001c0076t0011 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0001c0083t0028 a0001c0084t0059 a0001c0085t0003 a0001c0086t0004 a0001c0087t0002 a0001c0088t0007 a0001c0089t0006 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001 a0002c0062t0018 a0002c0063t0020 a0003c0069t0044 a0005c0092t0012	a0001c0001t0015g0085 a0001c0002t0008g0131 a0001c0002t0015g0086 others(129): Show a0001c0001t0015g0085 a0001c0002t0008g0131 a0001c0002t0015g0086 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0001g0154 a0001c0003t0004g0119 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0001g0152 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0004t0035g0004 a0001c0005t0026g0151 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0022g0090 a0001c0006t0063g0160 a0001c0006t0076g0192 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0008t0021g0091 a0001c0008t0027g0143 a0001c0008t0036g0002 a0001c0008t0054g0169 a0001c0008t0081g0019 a0001c0009t0001g0125 a0001c0009t0006g0142 a0001c0009t0028g0113 a0001c0009t0078g0021 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0024g0147 a0001c0011t0029g0196 a0001c0011t0047g0076 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0062 a0001c0013t0021g0093 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0016t0029g0193 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0017t0015g0082 a0001c0018t0016g0120 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0023t0008g0134 a0001c0024t0003g0129 a0001c0024t0037g0092 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0026t0043g0096 a0001c0027t0016g0185 a0001c0028t0006g0124 a0001c0029t0025g0153 a0001c0029t0085g0012 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0031t0011g0073 a0001c0031t0027g0173 a0001c0033t0023g0075 a0001c0034t0004g0133 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0004g0145 a0001c0037t0053g0138 a0001c0038t0007g0178 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0044t0045g0080 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0049t0011g0078 a0001c0050t0007g0148 a0001c0051t0060g0116 a0001c0052t0003g0149 a0001c0053t0007g0122 a0001c0055t0049g0083 a0001c0056t0001g0107 a0001c0057t0077g0016 a0001c0058t0004g0156 a0001c0059t0080g0006 a0001c0060t0001g0130 a0001c0066t0058g0126 a0001c0070t0020g0003 a0001c0072t0006g0108 a0001c0074t0032g0061 a0001c0075t0012g0127 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0079t0050g0097 a0001c0080t0011g0077 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0086t0004g0172 a0001c0087t0002g0051 a0001c0088t0007g0141 a0001c0089t0006g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0096t0072g0171 a0001c0097t0001g0157 a0002c0062t0018g0191 a0002c0063t0020g0001 a0003c0069t0044g0099 a0005c0092t0012g0163	132	196	0.6735	43	c.163 others(62): Show c.163-24389_163-24388insTCTGAATTCCTGCCCCTGCACAAGGT GTCCCCTCCCTTCCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80601282	G G	GGGTGTCC others(36): Show GGGTGTCCCCTCCCTTCCCTTTCTGAATTCCTGCCTCTGCACAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0064 a0001c0068 a0001c0064 a0001c0068	a0001c0064t0006 a0001c0068t0025 a0001c0064t0006 a0001c0068t0025	a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0064t0006g0106 a0001c0068t0025g0104	2	196	0.0102	43	c.163 others(62): Show c.163-24389_163-24388insTCTGAATTCCTGCCTCTGCACAAGGT GTCCCCTCCCTTCCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAS2_chr11_14272922_14364183	14280726	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	279	0.0036	43	c.527 others(58): Show c.527+875_527+876insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	5/5			chr11	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0052 a0002c0003t0004g0052	1	336	0.0030	43	c.51 others(54): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding		1297		chr7	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTATATA others(36): Show TTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	276	0.0036	43	c.652 others(62): Show c.652+16796_652+16797insTATATATATATATATATATATATATA TATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59606127	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	172	0.0058	43	c.197 others(60): Show c.1974-622_1974-621insTATATATATATATATATATATATATATA TATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241878004	C C	CCCTCTCC others(36): Show CCCTCTCCTGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	365	0.0027	43	c.47 others(54): Show c.4730_*4731insCCTCTCCTGCCGCCCCCCAACCCCATCCCTCTCC TCGCTCCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4182		chr2	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	354	0.0028	43	c.-28 others(54): Show c.-2803_-2802insTATATATATATATATATATATATATATATATTTT TTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMD11_chr1_918923_949574	936234	T T	TGGTCCCG others(36): Show TGGTCCCGCCTCCTAGGGCTCCTGGACGGAGGGGGTCCCCGGTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20129.hp2 HG03098.hp2 NA20129.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0003 a0006c0024t0003	a0006c0024t0003g0207 a0006c0024t0003g0208 a0006c0024t0003g0207 a0006c0024t0003g0208	2	434	0.0046	43	c.967 others(58): Show c.967+367_967+368insGGGGGTCCCCGGTCGGTCCCGCCTCCTAGG GCTCCTGGACGGA	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	936303	G G	GGGGGTCC others(36): Show GGGGGTCCCCGGTCGGTCCCGCCTCCTAGGGCTCCTGGACGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(65): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02293.hp2 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03239.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18987.hp1 NA18993.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19063.hp1 NA19066.hp2 NA20805.hp1	a0001 a0003 a0012 others(3): Show a0001 a0003 a0012 a0019 a0021 a0025	a0001c0001 a0001c0009 a0003c0006 others(4): Show a0001c0001 a0001c0009 a0003c0006 a0012c0025 a0019c0041 a0021c0040 a0025c0045	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0009t0003 a0003c0006t0003 a0012c0025t0003 a0019c0041t0003 a0021c0040t0003 a0025c0045t0003	a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0082 others(61): Show a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0013g0175 a0001c0001t0014g0045 a0001c0001t0019g0190 a0001c0001t0029g0170 a0001c0001t0030g0205 a0001c0009t0003g0180 a0003c0006t0003g0181 a0003c0006t0003g0183 a0003c0006t0003g0193 a0003c0006t0003g0194 a0003c0006t0003g0213 a0012c0025t0003g0195 a0012c0025t0003g0196 a0019c0041t0003g0160 a0021c0040t0003g0174 a0025c0045t0003g0192	68	434	0.1567	43	c.967 others(58): Show c.967+420_967+421insGGTCCCGCCTCCTAGGGCTCCTGGACGGAA GGGGTCCCCGGTC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(36): Show TGGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0197 a0001c0011t0002g0197	1	262	0.0038	43	c.716 others(62): Show c.716-13008_716-13007insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMHD1_chr20_36885229_36956708	36950086	A A	ACAGTTGG others(36): Show ACAGTTGGTCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0124 a0001c0001t0054g0124	1	340	0.0029	43	c.208 others(60): Show c.208+1349_208+1350insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAACTGACCAACTG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	414	0.0024	43	c.-20 others(52): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARDH_chr9_133658560_133743352	133669075	C C	CCCTCACC others(36): Show CCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0004 a0003c0035t0004	a0003c0035t0004g0040 a0003c0035t0004g0040	1	262	0.0038	43	c.249 others(62): Show c.2495+1508_2495+1509insAGGATGAGGGGAGAGGGAGGGTAAGG GGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0072 a0003c0006t0001g0072	1	322	0.0031	43	c.386 others(60): Show c.386+8686_386+8687insTTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATL1_chrX_85087284_85248779	85121309	T T	TAAATATA others(36): Show TAAATATATGTATGTATATAAATATATAAATATATACTATATAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19009.hp1 NA19012.hp1 NA19002.hp1 NA19009.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0224 a0001c0001t0001g0002 a0001c0001t0001g0224	3	232	0.0129	43	c.-31 others(64): Show c.-312-12072_-312-12030dupTTATATAGTATATATTTATATATT TATATACATACATATATTT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0184 a0001c0003t0002g0184	1	224	0.0045	43	c.56- others(58): Show c.56-2880_56-2879insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0101 a0003c0003t0011g0101	1	414	0.0024	43	c.678 others(58): Show c.678-150_678-149insATATATATATATATATATATATATATATAT ATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAP_chr3_47408681_47480941	47417909	G G	GGGAGGGG others(36): Show GGGAGGGGGGTGAGAGGGGGCGGGGGAGAAGTGAGAGGGGGCGT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	304	0.0033	43	c.244 others(58): Show c.2448-84_2448-83insACGCCCCCTCTCACTTCTCCCCCGCCCCCT CTCACCCCCCTCC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0003 a0004c0021t0003	a0004c0021t0003g0100 a0004c0021t0003g0100	1	434	0.0023	43	c.196 others(60): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATATTTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82626114	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	210	0.0048	43	c.52 others(54): Show c.5212_*5213insTTCTTTCTTTCTCTCTCTCTCTTCTTTCTTTCTT TCTTTCTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding		3424		chr4	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	415	0.0024	43	c.226 others(62): Show c.226+13394_226+13395insATATATATATATATATATATATATTA TATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	141306	G G	GTGGGGAG others(36): Show GTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	402	0.0025	43	c.23 others(54): Show c.2364_*2365insTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGG ACCTGGTGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2240		chr17	TogoVar
SCIMP_chr17_5203920_5239860	5213008	C C	CTTTGAGG others(36): Show CTTTGAGGTGGTAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00673.hp1 others(23): Show HG00544.hp2 HG00621.hp1 HG00673.hp1 HG02015.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp1 NA18945.hp2 NA18950.hp2 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18986.hp1 NA18993.hp2 NA18997.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19066.hp1 NA19067.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0023 a0001c0001t0001 a0001c0003t0001 a0001c0003t0023	a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 others(23): Show a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0343 a0001c0003t0001g0268 a0001c0003t0023g0331	26	386	0.0674	43	c.283 others(60): Show c.283+1916_283+1917insAAAAAAAAAAAAAAAAAAAAAAAAAAGA AGTTACCACCTCAAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	4/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0155 a0014c0015t0155	a0014c0015t0155g0037 a0014c0015t0155g0037	1	372	0.0027	43	c.354 others(58): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0089 a0001c0002t0009g0089	1	250	0.0040	43	c.-59 others(60): Show c.-59-5837_-59-5836insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN2A_chr2_165234414_165397304	165291519	C C	CTTTTTCT others(36): Show CTTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	358	0.0028	43	c.-51 others(60): Show c.-51-4254_-51-4253insTTTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTTCTTTCTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTTCTT others(36): Show CTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG01106.hp1 others(12): Show HG00621.hp1 HG01099.hp2 HG01106.hp1 HG01943.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp1 NA18946.hp1 NA18963.hp1 NA18964.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0131 a0001c0001t0002g0137 others(12): Show a0001c0001t0002g0076 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0232	15	358	0.0419	43	c.-51 others(60): Show c.-51-4245_-51-4244insTTTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291531	T T	TTCTTTCT others(36): Show TTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTCTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	358	0.0028	43	c.-51 others(60): Show c.-51-4242_-51-4241insTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTCTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCNM1_chr1_151161144_151175296	151173315	T T	TTTTTTGT others(36): Show TTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	378	0.0027	43	c.42 others(54): Show c.4230_*4231insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAT TTTTATTTA	SCNM1	ENSG00000163156.12	transcript	ENST00000368905.9	protein_coding		3020		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCCCTGC others(36): Show GTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	290	0.0035	43	c.166 others(60): Show c.1663-421_1663-420insCTGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(36): Show GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0022 a0004c0005t0002g0022	1	290	0.0035	43	c.166 others(60): Show c.1663-422_1663-421insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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