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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC7A7_chr14_22768222_22820435	22812773	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0365 a0001c0005t0002g0366 a0001c0005t0002g0365 a0001c0005t0002g0366	2	402	0.0050	36	c.499 others(51): Show c.499+126_499+127insTATATATATATATATATATATATATATATA TATATA		SLC7A7	ENSG00000155465.21	transcript	ENST00000674313.1	protein_coding	2/9						chr14	TogoVar
SLC7A9_chr19_32825511_32874767	32872546	C C	CTATATAA others(29): Show CTATATAAGGATTAGGGGCTTGGGGCTTCTGGGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0215 a0001c0021t0004g0215	1	404	0.0025	36	c.-29 others(47): Show c.-2973_-2972insCTGCCCCAGAAGCCCCAAGCCCCTAATCCTTATA TA		SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding					2780		chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40288834	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0236 a0001c0001t0100g0236	1	236	0.0042	36	c.180 others(59): Show c.1809-110342_1809-110341insATATATATATATATATATATAT ATATATATATATAT		SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10						chr2	TogoVar
SLC8A3_chr14_70039215_70193951	70192023	A A	ATTAATAA others(29): Show ATTAATAATAATAATAATAATAATAATTATTAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA19003.hp1 NA19056.hp2 others(2): Show NA18973.hp2 NA19003.hp1 NA19056.hp2 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0071 a0001c0001t0002g0201 a0001c0001t0005g0045 others(2): Show a0001c0001t0002g0071 a0001c0001t0002g0201 a0001c0001t0005g0045 a0001c0001t0007g0189 a0001c0001t0007g0199	5	296	0.0169	36	c.-37 others(47): Show c.-3708_-3707insATAATTAATAATTATTATTATTATTATTATTATT AA		SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding					3073		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192023	A A	ATTAATAA others(29): Show ATTAATAATAATAATAATAATAATTATTATTAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0069 a0001c0001t0045g0069	1	296	0.0034	36	c.-37 others(47): Show c.-3708_-3707insATAATTAATAATAATTATTATTATTATTATTATT AA		SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding					3073		chr14	TogoVar
SLC9A3_chr5_465456_529449	473144	C C	CGGCCCCG others(29): Show CGGCCCCGCCCCCGGCGCAGGCCCCGCCCCCGGCGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01943.hp1 HG01943.hp2 others(15): Show HG01192.hp2 HG01943.hp1 HG01943.hp2 HG02074.hp2 HG02080.hp1 HG02300.hp2 HG02615.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03209.hp2 HG06807.hp2 NA18963.hp2 NA18990.hp1 NA19004.hp1 NA19007.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0020 a0001c0021 others(3): Show a0001c0001 a0001c0020 a0001c0021 a0001c0024 a0001c0031 a0010c0017	a0001c0001t0004 a0001c0001t0017 a0001c0001t0027 others(5): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0027 a0001c0020t0004 a0001c0021t0032 a0001c0024t0004 a0001c0031t0004 a0010c0017t0004	a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0027 others(15): Show a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0027 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0017g0003 a0001c0001t0027g0144 a0001c0020t0004g0102 a0001c0021t0032g0204 a0001c0024t0004g0140 a0001c0031t0004g0159 a0010c0017t0004g0123	18	218	0.0826	36	c.23 others(45): Show c.234_*235insTGCGCCGGGGGCGGGGCCTGCGCCGGGGGCGGGGCC		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	17/17				234		chr5	TogoVar
SLC9A3_chr5_465456_529449	495540	T T	TCCCCACG others(29): Show TCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	218	0.0046	36	c.212 others(53): Show c.212-3505_212-3470dupGAGGGTCGGCGATGGCGCGGGGAGTGGA GCGTGGGG		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SLC9A3_chr5_465456_529449	495715	T T	TCCCCACG others(29): Show TCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0012 a0001c0026t0012	a0001c0026t0012g0212 a0001c0026t0012g0212	1	218	0.0046	36	c.212 others(53): Show c.212-3680_212-3645dupGAGGGTCGGCGATGGCGCGGGGAGTGGA GCGTGGGG		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SLC9A4_chr2_102468226_102538972	102510272	C C	CAGATACA others(29): Show CAGATACAGATACAGATACAGATACAGATACAGATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19007.hp1 HG02922.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0222 a0001c0002t0003g0115 a0001c0002t0001g0222 a0001c0002t0003g0115	2	382	0.0052	36	c.148 others(55): Show c.1488+1344_1488+1345insCAGATACAGATACAGATACAGATACA GATATAGATA		SLC9A4	ENSG00000180251.5	transcript	ENST00000295269.5	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A4_chr2_102468226_102538972	102510272	C C	CAGATACA others(29): Show CAGATACAGATACAGATACAGATACAGATATAGATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02165.hp1 HG02970.hp2 others(4): Show HG01943.hp1 HG02165.hp1 HG02970.hp2 HG02976.hp2 NA18954.hp1 NA18989.hp1 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0020 a0001c0002t0001g0221 a0001c0002t0001g0237 others(3): Show a0001c0002t0001g0020 a0001c0002t0001g0221 a0001c0002t0001g0237 a0001c0002t0001g0280 a0001c0002t0001g0345 a0001c0002t0007g0038	7	382	0.0183	36	c.148 others(55): Show c.1488+1344_1488+1345insCAGATACAGATACAGATACAGATATA GATATAGATA		SLC9A4	ENSG00000180251.5	transcript	ENST00000295269.5	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A4_chr2_102468226_102538972	102510272	C C	CAGATACA others(29): Show CAGATACAGATACAGATACAGATATAGATATAGATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18747.hp2 NA18951.hp2 others(5): Show HG00597.hp1 NA18747.hp2 NA18951.hp2 NA18959.hp1 NA18973.hp2 NA19011.hp2 NA19054.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0002c0008t0002 a0001c0002t0001 a0002c0008t0002	a0001c0002t0001g0225 a0001c0002t0001g0229 a0001c0002t0001g0233 others(5): Show a0001c0002t0001g0225 a0001c0002t0001g0229 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0244 a0001c0002t0001g0281 a0002c0008t0002g0150	8	382	0.0209	36	c.148 others(55): Show c.1488+1344_1488+1345insCAGATACAGATACAGATATAGATATA GATATAGATA		SLC9A4	ENSG00000180251.5	transcript	ENST00000295269.5	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A4_chr2_102468226_102538972	102510272	C C	CAGATACA others(29): Show CAGATACAGATACAGATATAGATATAGATATAGATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18995.hp1 HG03942.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0286 a0001c0002t0001g0265 a0001c0002t0001g0286	2	382	0.0052	36	c.148 others(55): Show c.1488+1344_1488+1345insCAGATACAGATATAGATATAGATATA GATATAGATA		SLC9A4	ENSG00000180251.5	transcript	ENST00000295269.5	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A7_chrX_46594251_46764118	46748364	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	250	0.0040	36	c.325 others(55): Show c.325+10305_325+10340dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT		SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16						chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49834312	G G	GTGTATAT others(29): Show GTGTATATATATATATACTGTGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp1 HG00544.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0254 a0001c0001t0026g0246 a0001c0001t0001g0254 a0001c0001t0026g0246	2	360	0.0056	36	c.290 others(53): Show c.290-5189_290-5154dupATATATATATATACTGTGTATATATATA TATACTGT		SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO1B1_chr12_21126194_21244796	21222395	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0164 a0002c0005t0001g0164	1	318	0.0031	36	c.174 others(51): Show c.1747+32_1747+33insTATATATATATATATATATATATATATATA TATACA		SLCO1B1	ENSG00000134538.3	transcript	ENST00000256958.3	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(29): Show GTATGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	284	0.0035	36	c.21 others(47): Show c.2187_*2188insTATGTGTGTGTATATATATATATATATATATATA TA		SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding					1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(29): Show GTATGTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02965.hp2 others(5): Show HG02559.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0001 a0002c0002t0002g0077 a0002c0002t0002g0078 others(5): Show a0002c0002t0002g0001 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0192 a0002c0002t0003g0012	8	284	0.0282	36	c.21 others(47): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTATATATATATATATA TA		SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding					1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91957033	A A	AGTATATA others(29): Show AGTATATATATTATATATATAATATATAATATATAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0058 a0001c0001t0023g0058	1	190	0.0053	36	c.646 others(55): Show c.646+40575_646+40576insGTATATATATTATATATATAATATAT AATATATAGT		SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9						chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	190	0.0053	36	c.647 others(55): Show c.647-78627_647-78626insAGATAGATAGATAGATAGATTAGATA GATAGATAGA		SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9						chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62671773	C C	CATAGCCT others(29): Show CATAGCCTGCTTCTTATACAAGCCCCTGTCGGAGTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00544.hp2 HG00544.hp2	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0002 a0015c0031t0002	a0015c0031t0002g0020 a0015c0031t0002g0020	1	432	0.0023	36	c.205 others(45): Show c.2050_2085dupATAGCCTGCTTCTTATACAAGCCCCTGTCGGAGTCT	p.Ile others(13): Show p.Ile684_Ser695dup	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	12/12	2233/2716	2086/2169	696/722		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO6A1_chr5_102366774_102504001	102370294	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	342	0.0029	36	c.18 others(47): Show c.1844_*1845insCATATATATATATATATATATATATATATATATA TA		SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding					1479		chr5	TogoVar
SLCO6A1_chr5_102366774_102504001	102455027	T T	TATATATA others(29): Show TATATATATATAAAAATATATATATATATATACATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02145.hp1 others(5): Show HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02572.hp2 HG02886.hp2 HG02895.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 others(5): Show a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277	8	342	0.0234	36	c.113 others(55): Show c.1131+3354_1131+3355insTTATGTATATATATATATATATTTTT ATATATATAT		SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	6/13						chr5	TogoVar
SLFN12_chr17_35405922_35437500	35434408	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0071 a0003c0003t0002g0071	1	426	0.0024	36	c.-22 others(47): Show c.-2262_-2261insTTTCTTTCTTTCTTTCCCTTCCTTCCTTCCTTCC TT		SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding					1909		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561741	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG02717.hp2 others(1): Show HG00639.hp2 HG01071.hp2 HG02717.hp2 HG03139.hp1	a0005 a0007 a0018 a0005 a0007 a0018	a0005c0005 a0007c0008 a0018c0025 a0005c0005 a0007c0008 a0018c0025	a0005c0005t0024 a0007c0008t0008 a0018c0025t0010 a0005c0005t0024 a0007c0008t0008 a0018c0025t0010	a0005c0005t0024g0123 a0007c0008t0008g0008 a0018c0025t0010g0052 a0005c0005t0024g0123 a0007c0008t0008g0008 a0018c0025t0010g0052	4	428	0.0094	36	c.-10 others(47): Show c.-1099_-1098insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding					923		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0098 a0008c0009t0006g0098	1	428	0.0023	36	c.-11 others(47): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding					927		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	256	0.0039	36	c.198 others(53): Show c.198-1680_198-1679insTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTCTCT		SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36						chr10	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0042 a0001c0006t0042	a0001c0006t0042g0084 a0001c0006t0042g0084	1	230	0.0044	36	c.395 others(55): Show c.395+38282_395+38283insCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCC		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG01070.hp2 others(1): Show HG00408.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0002t0002g0080	4	230	0.0174	36	c.395 others(55): Show c.395+38282_395+38283insCTCCCTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472460	C C	CTATATCT others(29): Show CTATATCTATATATAGATATATATCTATATATAGATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG01346.hp2 HG01496.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0004 a0002c0009t0001 a0002c0009t0004	a0002c0009t0001g0110 a0002c0009t0004g0203 a0002c0009t0001g0110 a0002c0009t0004g0203	2	230	0.0087	36	c.467 others(53): Show c.467+4656_467+4691dupTATATCTATATATAGATATATATCTATA TATAGATA		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168736632	C C	CTGCCTGG others(29): Show CTGCCTGGGCTTGCCTCCTCCCTGCTGCAATGCAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02895.hp2 HG02897.hp1 others(5): Show HG01934.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0055	a0001c0001t0001 a0001c0004t0006 a0001c0004t0010 others(4): Show a0001c0001t0001 a0001c0004t0006 a0001c0004t0010 a0001c0004t0014 a0002c0002t0019 a0002c0002t0024 a0003c0055t0010	a0001c0001t0001g0034 a0001c0004t0006g0060 a0001c0004t0010g0131 others(5): Show a0001c0001t0001g0034 a0001c0004t0006g0060 a0001c0004t0010g0131 a0001c0004t0014g0001 a0001c0004t0014g0002 a0002c0002t0019g0107 a0002c0002t0024g0086 a0003c0055t0010g0115	8	132	0.0606	36	c.227 others(57): Show c.2270+11634_2270+11669dupCTCTGCATTGCAGCAGGGAGGAGG CAAGCCCAGGCA		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168736711	G G	GGCTTGCC others(29): Show GGCTTGCCTCCTCCCTGCTGCAATGCAGAGTGCCTGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 NA19030.hp2 HG02486.hp2 HG02976.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0015 a0004c0025 a0001c0003 a0001c0015 a0004c0025	a0001c0003t0017 a0001c0015t0017 a0004c0025t0006 a0001c0003t0017 a0001c0015t0017 a0004c0025t0006	a0001c0003t0017g0050 a0001c0015t0017g0089 a0004c0025t0006g0013 a0001c0003t0017g0050 a0001c0015t0017g0089 a0004c0025t0006g0013	3	132	0.0227	36	c.227 others(57): Show c.2270+11590_2270+11591insGCAGGCACTCTGCATTGCAGCAGG GAGGAGGCAAGC		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35						chr5	TogoVar
SLIT3_chr5_168656740_169306139	168884549	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0003 a0002c0053t0003	a0002c0053t0003g0123 a0002c0053t0003g0123	1	132	0.0076	36	c.414 others(53): Show c.414-1214_414-1213insATATATATATATATATATATATATATAT ATATATAT		SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35						chr5	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(29): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	310	0.0032	36	c.150 others(55): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19030.hp1 HG00323.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0316 a0001c0001t0002g0268 a0001c0001t0002g0316	2	386	0.0052	36	c.299 others(55): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20						chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850232	T T	TTATATAT others(29): Show TTATATATTATATATATATTATATATATTATGTATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01258.hp1 others(2): Show HG00140.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0202 a0001c0001t0203 others(2): Show a0001c0001t0092 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0210	a0001c0001t0092g0284 a0001c0001t0202g0220 a0001c0001t0203g0233 others(2): Show a0001c0001t0092g0284 a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 a0001c0001t0210g0294	5	310	0.0161	36	c.784 others(53): Show c.784+1041_784+1042insTTATACATAATATATATAATATATATAT AATATATA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02135.hp2 NA19080.hp2 HG00735.hp2 HG02135.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0099 a0001c0001t0130 a0001c0001t0047 a0001c0001t0099 a0001c0001t0130	a0001c0001t0047g0222 a0001c0001t0099g0221 a0001c0001t0130g0244 a0001c0001t0047g0222 a0001c0001t0099g0221 a0001c0001t0130g0244	3	310	0.0097	36	c.237 others(55): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10						chr18	TogoVar
SMAP1_chr6_70662883_70867003	70855050	T T	TCATATAC others(29): Show TCATATACATATACATATACATATACATATACATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp2 NA18981.hp2 others(1): Show HG02615.hp1 HG03579.hp2 NA18981.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0167 a0001c0001t0001g0222 a0002c0002t0002g0298 others(1): Show a0001c0001t0001g0167 a0001c0001t0001g0222 a0002c0002t0002g0298 a0002c0002t0002g0301	4	306	0.0131	36	c.790 others(53): Show c.790-1783_790-1748dupATATACATATACATATACATATACATAT ACATATAC		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	316	0.0032	36	c.425 others(55): Show c.4254-5375_4254-5374insGTTTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02280.hp1 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0147 a0002c0003t0003g0148 a0002c0003t0003g0147 a0002c0003t0003g0148	2	322	0.0062	36	c.180 others(53): Show c.1809-525_1809-524insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCC1_chr3_47580269_47786893	47600998	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	219	0.0046	36	c.304 others(55): Show c.3043+9032_3043+9067dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47747440	A A	AAAATATA others(29): Show AAAATATAAATATAAATATAAATATAAATATAAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00733.hp1 others(25): Show HG00099.hp2 HG00639.hp1 HG00733.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01981.hp1 HG02148.hp1 HG02723.hp2 HG02976.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18941.hp1 NA18952.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18997.hp1 NA18999.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0003 others(1): Show a0001c0001 a0001c0002 a0005c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0005c0003t0001 a0006c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0020 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0002g0217 a0001c0001t0006g0109 a0001c0002t0002g0117 a0005c0003t0001g0207 a0006c0010t0001g0005	28	219	0.1279	36	c.316 others(53): Show c.316-1483_316-1448dupATATTTATATTTATATTTATATTTATAT TTATATTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27						chr3	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	213	0.0094	36	c.125 others(53): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24						chrX	TogoVar
SMC6_chr2_17658812_17758810	17753324	T T	TGGGGACG others(29): Show TGGGGACGGCCGCCTGGGAGGGGACGGCCGCCTGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00642.hp2 others(38): Show HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01517.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03834.hp2 NA18747.hp1 NA18955.hp2 NA19043.hp2 NA19057.hp1 NA19067.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0003t0001 a0003c0002t0001 a0003c0002t0009 a0003c0002t0011 a0004c0008t0012	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0171 others(36): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0171 a0001c0001t0002g0159 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0005g0234 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0172 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0173 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0196 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0009g0232 a0003c0002t0011g0197 a0004c0008t0012g0195	41	254	0.1614	36	c.-93 others(51): Show c.-93+266_-92-261dupTCCCAGGCGGCCGTCCCCTCCCAGGCGGCC GTCCCC		SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	1/27						chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0047 a0001c0004t0002g0047	1	340	0.0029	36	c.638 others(53): Show c.638+5354_638+5355insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0034 a0002c0016t0034	a0002c0016t0034g0019 a0002c0016t0034g0019	1	340	0.0029	36	c.226 others(53): Show c.2260+988_2260+989insTATATATATATATATATATATATATATA TAAATAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO4_chr11_93473472_93548391	93546824	C C	CTATGTGC others(29): Show CTATGTGCTGGTGATAAAATCTAAACGATTTACATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	412	0.0024	36	c.-37 others(47): Show c.-3703_-3702insCCATGTAAATCGTTTAGATTTTATCACCAGCACA TA		SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding					3434		chr11	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCTCTCTC others(29): Show TCTCTCTCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG02965.hp1 others(3): Show HG02486.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0011c0020 a0001c0004 a0011c0020	a0001c0004t0004 a0011c0020t0004 a0001c0004t0004 a0011c0020t0004	a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0004t0004g0018 others(3): Show a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0004t0004g0018 a0001c0004t0004g0023 a0001c0004t0004g0025 a0011c0020t0004g0024	6	300	0.0200	36	c.621 others(53): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGAGAGAG		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62						chr16	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18994.hp1 NA18973.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0035 a0001c0001t0036g0058 a0001c0001t0002g0035 a0001c0001t0036g0058	2	320	0.0063	36	c.67 others(47): Show c.6765_*6766insGTGTGTGTATATATATATATATATATATATATAT AT		SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding					3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0059 a0001c0001t0035g0059	1	320	0.0031	36	c.67 others(47): Show c.6765_*6766insGTGTGTATATATATATATATATATATATATATAT AT		SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding					3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(29): Show TATATATATATATATATATATGTATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	320	0.0031	36	c.67 others(47): Show c.6765_*6766insGTGTGTATATATATACATATATATATATATATAT AT		SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding					3152		chr19	TogoVar

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Search Results (Total: 8848 hits)