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
RPTOR_chr17_80539838_80971368	80665334	T T	TTTCCTTT others(42): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0016 a0001c0018t0016	a0001c0018t0016g0120 a0001c0018t0016g0120	1	196	0.0051	49	c.348 others(68): Show c.348+21527_348+21575dupCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665502	C C	CCTTTCCT others(42): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0076 a0001c0006t0076	a0001c0006t0076g0192 a0001c0006t0076g0192	1	196	0.0051	49	c.348 others(68): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(42): Show CCTTTCCTGTCCTTTCCTTTCCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0080 a0001c0059t0080	a0001c0059t0080g0006 a0001c0059t0080g0006	1	196	0.0051	49	c.348 others(68): Show c.348+21714_348+21715insTTTCCTGTCCTTTCCTTTCCTGTCCT TTCCTTTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80876347	T T	TCCACCGA others(42): Show TCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02922.hp2 HG00423.hp2 HG02922.hp2	a0001 a0001	a0001c0017 a0001c0053 a0001c0017 a0001c0053	a0001c0017t0005 a0001c0053t0007 a0001c0017t0005 a0001c0053t0007	a0001c0017t0005g0031 a0001c0053t0007g0122 a0001c0017t0005g0031 a0001c0053t0007g0122	2	196	0.0102	49	c.151 others(68): Show c.1510-3910_1510-3862dupCGTGCCACGCAGGGTGTGTGTGTCGC CTGCCGTGTCTTCCCACCGAGCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GTGTGTGT others(42): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0053 a0004c0005t0053	a0004c0005t0053g0198 a0004c0005t0053g0198	1	388	0.0026	49	c.30 others(60): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC ACACACACACACACA	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(42): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02451.hp1 others(2): Show HG01433.hp1 HG02055.hp2 HG02451.hp1 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0011g0010 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0011g0010	5	362	0.0138	49	c.63 others(60): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604129	G G	GGGCTGAC others(42): Show GGGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18971.hp1 NA18612.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	362	0.0055	49	c.63 others(60): Show c.6348_*6349insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3833		chr17	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GCTGACCC others(42): Show GCTGACCCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03927.hp1 HG02056.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0252 a0001c0001t0001g0101 a0001c0001t0002g0252	2	358	0.0056	49	c.-15 others(68): Show c.-155-3832_-155-3831insGCCTCCCTCGCGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GGCTGACC others(42): Show GGCTGACCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	358	0.0028	49	c.-15 others(68): Show c.-155-3843_-155-3842insGCTGACCCCCCGCCTCCCTCGCGGAA GGGGCGGCTGGCCAGGCGGGGGA	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14			chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200665	A A	ACCCCCCG others(42): Show ACCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGACTGAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0352 a0001c0001t0004g0352	1	358	0.0028	49	c.-15 others(68): Show c.-155-3833_-155-3832insGCCTCCCTCGCGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RTEL1_chr20_63653312_63701245	63677697	G G	GCCTGTTG others(42): Show GCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0023 a0001c0016t0002g0023	1	60	0.0167	49	c.920 others(64): Show c.920-201_920-153dupCTGTTGGTGGATTTGGCCTGCACGGATTCT GTGTGGCCTCTTCCTTCCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(42): Show GCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02027.hp2 NA18979.hp2 others(2): Show HG00408.hp1 HG02027.hp2 NA18979.hp2 NA19055.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	5	365	0.0137	49	c.48 others(60): Show c.4833_*4834insCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878112	C C	CCCACCCC others(42): Show CCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	49	c.48 others(60): Show c.4838_*4839insCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCTGGCCGCCCCCCG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4290		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197733122	T T	TTTTTTTT others(42): Show TTTTTTTTTTTTTTTTTTTGTTTTTTATTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0047 a0001c0001t0034g0047	1	186	0.0054	49	c.65+ others(64): Show c.65+3532_65+3533insGAAAAAAAAAAAAAAAAAAAAAATAAAAAA CAAAAAAAAAAAAAAAAAA	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19			chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626174	T T	TTGTCATA others(42): Show TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	202	0.0050	49	c.-26 others(60): Show c.-2650_-2649insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2223		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATGTCATA others(42): Show ATGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0121	1	202	0.0050	49	c.-25 others(60): Show c.-2578_-2577insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	A A	ACCCAGCC others(42): Show ACCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03490.hp2 HG03492.hp2 others(1): Show HG02602.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0026g0058 a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0026g0058	4	438	0.0091	49	c.68- others(64): Show c.68-2986_68-2985insCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	A A	ACCCGGCC others(42): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18951.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19006.hp2 NA19058.hp2 NA19060.hp2 NA19079.hp1 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(32): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0075 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0091 a0001c0001t0014g0082 a0001c0001t0024g0083 a0001c0001t0025g0085	58	438	0.1324	49	c.68- others(64): Show c.68-3034_68-2986dupCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011655	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	438	0.0023	49	c.68- others(64): Show c.68-3035_68-3034insTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
S100A2_chr1_153556108_153570844	153556420	T T	TGGCTAAG others(42): Show TGGCTAAGTAGAGGGAGGAAGGTAGTGAGATATGATGACCCAATATGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	370	0.0027	49	c.50 others(60): Show c.5018_*5019insTGACATATTGGGTCATCATATCTCACTACCTTCC TCCCTCTACTTAGCC	S100A2	ENSG00000196754.13	transcript	ENST00000368708.9	protein_coding		4687		chr1	TogoVar
SACS_chr13_23323830_23438702	23428419	A A	ATTACTCC others(42): Show ATTACTCCCCCCCCCCCCCCACCCCCCGCCCCCCTTCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0126 a0001c0004t0002g0126	1	378	0.0027	49	c.-50 others(68): Show c.-502+5195_-502+5196insGGGGGGGGGGGGGGAAGGGGGGCGGG GGGTGGGGGGGGGGGGGGAGTAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SAMD11_chr1_918923_949574	939436	C C	CCCCCTCA others(42): Show CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0003 a0006c0024t0003	a0006c0024t0003g0208 a0006c0024t0003g0208	1	434	0.0023	49	c.119 others(64): Show c.1195+48_1195+96dupGGTGAGGACCCACCCTGGCATGATCTCCCC TCATCACCTCCCCAGCCAC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668470	T T	TCCCCTCA others(42): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0187 a0001c0016t0003g0187	1	262	0.0038	49	c.249 others(68): Show c.2496-1601_2496-1600insGAGGGAGGGCGAGGGGAGAGGGAGGG TGAGGGAGAGAGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668998	C C	CACCCTCC others(42): Show CACCCTCCCTCTCCCCTTACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0068 a0008c0068	a0008c0068t0002 a0008c0068t0002	a0008c0068t0002g0057 a0008c0068t0002g0057	1	262	0.0038	49	c.249 others(68): Show c.2495+1585_2495+1586insAAGGGAGAGGGAAGGAGAGAGAGAGG GAGGGTAAGGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669042	T T	TCCCTCAC others(42): Show TCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0002 a0002c0053t0002	a0002c0053t0002g0030 a0002c0053t0002g0030	1	262	0.0038	49	c.249 others(68): Show c.2495+1541_2495+1542insGAGAGGGAGGGTGAGGGAGATGGAGG GTGAGGGAGAGGGAAGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669160	C C	CATCCTCC others(42): Show CATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCTCCTTCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0199	1	262	0.0038	49	c.249 others(68): Show c.2495+1423_2495+1424insAAGGGGAGAGGGAAGGAGAGGGAGAG GGAGGGTGAGGGAGAGGGAGGAT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387620	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0252 a0001c0001t0032g0252	1	322	0.0031	49	c.157 others(66): Show c.157-2512_157-2511insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBNO2_chr19_1102638_1179268	1165805	C C	CCCAGACC others(42): Show CCCAGACCCCCAAACCCCAGATCCCAGACCCCAGACCCCAGACCCCAGAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0015 a0001c0030t0001g0015	1	203	0.0049	49	c.-12 others(68): Show c.-127+8366_-127+8367insATCTGGGGTCTGGGGTCTGGGGTCTG GGATCTGGGGTTTGGGGGTCTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0298 a0003c0009t0011g0298	1	414	0.0024	49	c.678 others(64): Show c.678-150_678-149insATATATATATATATATATATATATATATAT ATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAMP1_chr5_78355617_78485739	78430146	T T	TTATAAAT others(42): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0168 a0002c0003t0007g0168	1	332	0.0030	49	c.632 others(66): Show c.632+8189_632+8190insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(42): Show TTATTTATAAATACTGTATTTATAAATACAGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02559.hp1 others(5): Show HG01243.hp1 HG02055.hp2 HG02559.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0162 a0002c0003t0007g0163 a0002c0003t0007g0164 others(5): Show a0002c0003t0007g0162 a0002c0003t0007g0163 a0002c0003t0007g0164 a0002c0003t0007g0165 a0002c0003t0007g0166 a0002c0003t0007g0167 a0002c0003t0007g0169 a0002c0003t0007g0170	8	332	0.0241	49	c.632 others(66): Show c.632+8275_632+8276insTGTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460754	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	332	0.0030	49	c.852 others(66): Show c.852+1429_852+1430insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460758	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02970.hp2 HG02572.hp2 HG02630.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0143 a0001c0001t0005g0152 a0001c0001t0017g0154 a0001c0001t0005g0143 a0001c0001t0005g0152 a0001c0001t0017g0154	3	332	0.0090	49	c.852 others(66): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460762	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03195.hp1 HG02258.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0144 a0001c0001t0005g0147	2	332	0.0060	49	c.852 others(66): Show c.852+1437_852+1438insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(42): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	370	0.0027	49	c.-47 others(60): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74991133	T T	TTTCTTTC others(42): Show TTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	370	0.0027	49	c.-45 others(60): Show c.-4589_-4588insTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4429		chr15	TogoVar
SCML4_chr6_107697154_107829313	107803392	T T	TCGCCCGG others(42): Show TCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0006 a0004c0013t0006	a0004c0013t0006g0037 a0004c0013t0006g0037	1	250	0.0040	49	c.-60 others(68): Show c.-60+20685_-60+20733dupGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN7A_chr2_166398573_166499249	166414897	T T	TTATATAG others(42): Show TTATATAGGATAATATATAATATATATTATATAGGATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02074.hp2 HG02257.hp2 others(9): Show HG00323.hp1 HG02074.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp2 NA18522.hp1 NA18906.hp1 NA18985.hp2 NA19068.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0010t0001	a0001c0001t0001g0315 a0001c0001t0003g0043 a0001c0001t0003g0346 others(9): Show a0001c0001t0001g0315 a0001c0001t0003g0043 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0008g0373 a0001c0001t0008g0374 a0001c0001t0008g0375 a0001c0001t0008g0376 a0001c0010t0001g0057	12	394	0.0305	49	c.341 others(68): Show c.3415-1777_3415-1776insTATATTATATATTATCCTATATAATA TATATTATATATTATCCTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284189	G G	GGTGAGGG others(42): Show GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0130 a0001c0012t0001g0130	1	290	0.0035	49	c.464 others(64): Show c.464+108_464+109insGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYGR1_chr2_227382683_227392949	227389894	T T	TTTTCTTT others(42): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0000 a0001c0003t0000	a0001c0003t0000g0000 a0001c0003t0000g0000	1	454	0.0022	49	c.-19 others(60): Show c.-1946_-1945insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1946		chr2	TogoVar
SDCCAG8_chr1_243251041_243505091	243339104	G G	GGTGGGCG others(42): Show GGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	189	0.0053	49	c.122 others(68): Show c.1222-1895_1222-1894insCCTCAGAAAGTGGGCGGCAGGAGGGA GCAGACAGCTAGTGGGCAGAGGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(42): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	398	0.0025	49	c.-19 others(60): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHA_chr5_213320_262082	229964	A A	AATATTAT others(42): Show AATATTATACAGCATGGTGGCTAGAGTTAACATTATACAGCATGGTGGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	266	0.0038	49	c.771 others(64): Show c.771-910_771-862dupTATTATACAGCATGGTGGCTAGAGTTAACA TTATACAGCATGGTGGCTA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDK1_chr7_3296252_4274000	4248913	G G	GCACACAT others(42): Show GCACACATACACATATGTACATACATGCACAACACATACATACCTAAATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01243.hp2 others(18): Show HG01167.hp1 HG01243.hp1 HG01243.hp2 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp1 NA18906.hp1 NA20300.hp2	a0001 a0002 a0008 others(7): Show a0001 a0002 a0008 a0010 a0013 a0016 a0021 a0029 a0031 a0032	a0001c0008 a0001c0014 a0001c0017 others(15): Show a0001c0008 a0001c0014 a0001c0017 a0001c0060 a0001c0061 a0001c0072 a0001c0091 a0001c0092 a0002c0013 a0002c0090 a0008c0015 a0010c0019 a0013c0084 a0016c0023 a0021c0045 a0029c0063 a0031c0074 a0032c0075	a0001c0008t0007 a0001c0014t0018 a0001c0017t0011 others(15): Show a0001c0008t0007 a0001c0014t0018 a0001c0017t0011 a0001c0060t0041 a0001c0061t0031 a0001c0072t0065 a0001c0091t0010 a0001c0092t0048 a0002c0013t0064 a0002c0090t0010 a0008c0015t0017 a0010c0019t0074 a0013c0084t0045 a0016c0023t0030 a0021c0045t0015 a0029c0063t0007 a0031c0074t0042 a0032c0075t0008	a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0014t0018g0062 others(18): Show a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0060t0041g0080 a0001c0061t0031g0100 a0001c0072t0065g0027 a0001c0091t0010g0055 a0001c0092t0048g0057 a0002c0013t0064g0026 a0002c0090t0010g0047 a0008c0015t0017g0059 a0008c0015t0017g0066 a0010c0019t0074g0009 a0013c0084t0045g0011 a0016c0023t0030g0113 a0021c0045t0015g0046 a0029c0063t0007g0106 a0031c0074t0042g0081 a0032c0075t0008g0016	21	116	0.1810	49	c.638 others(68): Show c.6381+3165_6381+3213dupACACATATGTACATACATGCACAACA CATACATACCTAAATACACACAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0027 a0027	a0027c0076 a0027c0076	a0027c0076t0034 a0027c0076t0034	a0027c0076t0034g0020 a0027c0076t0034g0020	1	204	0.0049	49	c.559 others(68): Show c.5594-2538_5594-2537insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(42): Show ATATATATATATATATATGTATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0023 a0023	a0023c0091 a0023c0091	a0023c0091t0008 a0023c0091t0008	a0023c0091t0008g0182 a0023c0091t0008g0182	1	204	0.0049	49	c.559 others(68): Show c.5594-2538_5594-2537insAAAAAAATATATATATATATATATAT ATATACATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(42): Show ATATATATATATATATATGTATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0109 a0001c0006t0018g0109	1	204	0.0049	49	c.559 others(68): Show c.5594-2538_5594-2537insAAAAAAAAAAATATATATATATATAT ATATACATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEH1L_chr18_12943011_12992531	12979687	T T	TGGGCGGG others(42): Show TGGGCGGGGGGCTGACCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01070.hp2 others(61): Show HG00099.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01255.hp1 HG01516.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18941.hp1 NA18944.hp1 NA18956.hp2 NA18966.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19064.hp2 NA19065.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(60): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0002g0376 a0001c0001t0003g0013 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0004t0001g0346 a0001c0004t0001g0351	64	388	0.1650	49	c.761 others(64): Show c.761+812_761+813insTCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12979691	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02132.hp1 NA18981.hp2 others(1): Show HG02027.hp2 HG02132.hp1 NA18981.hp2 NA19012.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0349 others(1): Show a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0349 a0001c0004t0001g0350	4	388	0.0103	49	c.761 others(64): Show c.761+812_761+813insTCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12979692	G G	GGGGGGCT others(42): Show GGGGGGCTGACCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG02109.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0256 a0001c0001t0001g0011 a0001c0001t0001g0256	2	388	0.0052	49	c.761 others(64): Show c.761+812_761+813insTCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCCGGGGGCTGACCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar

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Search Results (Total: 2057 hits)