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
SGIP1_chr1_66529153_66756139	66630858	A A	AGGAAAGA others(22): Show AGGAAAGAAGAGAAAGAAGAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	302	0.0033	29	c.75- others(44): Show c.75-2211_75-2210insGAAAGAAGAGAAAGAAGAAGAAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAGAA others(22): Show AAAGAGAAGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0073 a0001c0001t0039g0073	1	302	0.0033	29	c.75- others(44): Show c.75-2165_75-2164insAGAGAAGGAGGGAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660123	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0153 a0001c0001t0016g0147 a0001c0001t0016g0153	2	302	0.0066	29	c.460 others(44): Show c.460-377_460-376insGAGGGAAGGAAGGAAGGAAAGAAAGAAAG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(22): Show GAAAAGAAAGAAAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01891.hp1 HG02040.hp1 others(1): Show HG00099.hp2 HG01891.hp1 HG02040.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0168	4	250	0.0160	29	c.286 others(48): Show c.286-24983_286-24982insTTCTTTCTCTCTCTCTCTTTCTTTCT TTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(22): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01517.hp1 HG03098.hp1 HG01258.hp1 HG01517.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0016 a0001c0001t0001g0154 a0001c0001t0011g0055 a0001c0001t0001g0016 a0001c0001t0001g0154 a0001c0001t0011g0055	3	250	0.0120	29	c.286 others(48): Show c.286-24983_286-24982insTTCTCTCTCTCTCTCTCTTTCTTTCT TTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134273592	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	250	0.0040	29	c.70- others(46): Show c.70-11473_70-11445dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03041.hp2 HG01981.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0032 a0001c0002t0003g0018 a0001c0002t0002g0032 a0001c0002t0003g0018	2	142	0.0141	29	c.-12 others(50): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 NA18978.hp1 others(1): Show HG01123.hp2 HG01361.hp2 NA18978.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0005g0222 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0005g0222 a0001c0002t0001g0059	4	312	0.0128	29	c.-23 others(50): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS2_chr4_107819932_107920047	107902289	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02622.hp2 others(4): Show HG02280.hp1 HG02615.hp2 HG02622.hp2 HG03098.hp1 HG03453.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0006 a0001c0001t0004g0104 a0001c0001t0004g0143 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0104 a0001c0001t0004g0143 a0001c0001t0004g0162 a0001c0001t0004g0240 a0001c0001t0028g0203	7	270	0.0259	29	c.574 others(44): Show c.574-932_574-931insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02027.hp1 NA19002.hp1 HG01516.hp1 HG02027.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0070 a0001c0001t0001 a0001c0001t0015 a0001c0001t0070	a0001c0001t0001g0270 a0001c0001t0015g0018 a0001c0001t0070g0091 a0001c0001t0001g0270 a0001c0001t0015g0018 a0001c0001t0070g0091	3	272	0.0110	29	c.-23 others(40): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM1_chr22_24801211_24932578	24900408	T T	TTTCTTTC others(22): Show TTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	338	0.0030	29	c.261 others(48): Show c.2611-1425_2611-1424insTTCTTTCTTTTTCTTTCTTTCTTTCT TTC	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24			chr22	TogoVar
SGSM2_chr17_2332501_2386054	2362426	C C	CCCCGTTC others(22): Show CCCCGTTCCCAAAAACTGCAGGTGACCGCT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	422	0.0024	29	c.458 others(44): Show c.458+158_458+159insCGTTCCCAAAAACTGCAGGTGACCGCTCC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2362431	T T	TCCCAAAA others(22): Show TCCCAAAAACTGCAGGTGACCGCCCCGTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG01433.hp2 others(28): Show HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0002 a0003 a0022 others(1): Show a0002 a0003 a0022 a0024	a0002c0002 a0002c0004 a0002c0041 others(4): Show a0002c0002 a0002c0004 a0002c0041 a0003c0006 a0003c0013 a0022c0045 a0024c0017	a0002c0002t0001 a0002c0002t0002 a0002c0002t0023 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0023 a0002c0004t0001 a0002c0004t0015 a0002c0041t0001 a0003c0006t0001 a0003c0013t0001 a0022c0045t0001 a0024c0017t0001	a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0002g0103 others(26): Show a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0002g0103 a0002c0002t0023g0139 a0002c0004t0001g0006 a0002c0004t0001g0007 a0002c0004t0001g0069 a0002c0004t0001g0088 a0002c0004t0001g0089 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0004t0001g0094 a0002c0004t0001g0132 a0002c0004t0001g0134 a0002c0004t0001g0137 a0002c0004t0001g0279 a0002c0004t0001g0300 a0002c0004t0001g0331 a0002c0004t0015g0281 a0002c0041t0001g0312 a0003c0006t0001g0024 a0003c0006t0001g0086 a0003c0006t0001g0093 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0013t0001g0087 a0003c0013t0001g0097 a0022c0045t0001g0136 a0024c0017t0001g0092	31	422	0.0735	29	c.458 others(44): Show c.458+243_458+271dupCCGTTCCCCAAAAACTGCAGGTGACCGCC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2362431	T T	TCCCAAAA others(22): Show TCCCAAAAACTGCAGGTGACCGCTCCGTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00597.hp2 others(39): Show HG00280.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02523.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 NA18949.hp2 NA18951.hp2 NA18960.hp2 NA18966.hp2 NA18972.hp2 NA18993.hp2 NA19012.hp2 NA19065.hp1 NA19072.hp1 NA19077.hp2 NA19084.hp1 NA19086.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0001c0003 a0001c0020 others(5): Show a0001c0001 a0001c0003 a0001c0020 a0001c0024 a0001c0032 a0001c0034 a0004c0010 a0015c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0003t0001 a0001c0020t0001 a0001c0024t0005 a0001c0032t0001 a0001c0034t0009 a0004c0010t0001 a0015c0026t0001	a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0025 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0257 a0001c0001t0001g0270 a0001c0001t0001g0283 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0365 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0391 a0001c0001t0001g0394 a0001c0001t0003g0254 a0001c0001t0005g0077 a0001c0001t0011g0116 a0001c0001t0021g0017 a0001c0003t0001g0118 a0001c0020t0001g0286 a0001c0024t0005g0078 a0001c0032t0001g0188 a0001c0034t0009g0396 a0004c0010t0001g0117 a0015c0026t0001g0341	42	422	0.0995	29	c.458 others(44): Show c.458+183_458+184insTCCGTTCCCCAAAAACTGCAGGTGACCGC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2362457	G G	GTTCCCCA others(22): Show GTTCCCCAAAAACTGCAGGTGACCGCCCCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18974.hp2 HG01516.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0203 a0001c0001t0001g0236	2	422	0.0047	29	c.458 others(44): Show c.458+215_458+216insATTCCCCAAAAACTGCAGGTGACCGCCCC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2362507	A A	ACCGCCCC others(22): Show ACCGCCCCGTTCCCCAAAAACTGCAGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG02970.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0008 a0010 others(6): Show a0001 a0008 a0010 a0011 a0012 a0019 a0020 a0023 a0028	a0001c0001 a0001c0003 a0001c0028 others(11): Show a0001c0001 a0001c0003 a0001c0028 a0001c0029 a0001c0037 a0001c0039 a0008c0019 a0010c0033 a0011c0027 a0012c0023 a0019c0038 a0020c0040 a0023c0018 a0028c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002 a0001c0028t0001 a0001c0029t0001 a0001c0037t0001 a0001c0039t0001 a0008c0019t0001 a0010c0033t0001 a0011c0027t0001 a0012c0023t0001 a0019c0038t0008 a0020c0040t0001 a0023c0018t0001 a0028c0014t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 others(122): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0348 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0367 a0001c0001t0001g0371 a0001c0001t0001g0377 a0001c0001t0003g0204 a0001c0001t0003g0269 a0001c0001t0003g0324 a0001c0001t0003g0330 a0001c0001t0007g0164 a0001c0001t0007g0173 a0001c0001t0007g0184 a0001c0001t0008g0175 a0001c0001t0008g0210 a0001c0001t0010g0014 a0001c0001t0010g0259 a0001c0001t0012g0320 a0001c0001t0013g0318 a0001c0001t0013g0322 a0001c0001t0017g0366 a0001c0003t0001g0108 a0001c0003t0002g0119 a0001c0003t0002g0252 a0001c0028t0001g0250 a0001c0029t0001g0359 a0001c0037t0001g0217 a0001c0039t0001g0234 a0008c0019t0001g0017 a0010c0033t0001g0202 a0011c0027t0001g0240 a0012c0023t0001g0368 a0019c0038t0008g0216 a0020c0040t0001g0220 a0023c0018t0001g0114 a0028c0014t0001g0145	129	422	0.3057	29	c.458 others(44): Show c.458+265_458+266insGCCGCCCCGTTCCCCAAAAACTGCAGGTG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG06807.hp2 HG02723.hp2 HG02818.hp2 HG06807.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0020 a0002c0002 a0006c0020	a0002c0002t0002 a0006c0020t0002 a0002c0002t0002 a0006c0020t0002	a0002c0002t0002g0038 a0002c0002t0002g0380 a0006c0020t0002g0104 a0002c0002t0002g0038 a0002c0002t0002g0380 a0006c0020t0002g0104	3	406	0.0074	29	c.-29 others(46): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	410	0.0024	29	c.-34 others(38): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	432	0.0023	29	c.-30 others(40): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG01978.hp2 others(4): Show HG00438.hp2 HG01934.hp1 HG01978.hp2 NA18967.hp1 NA19058.hp2 NA19060.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0179 a0001c0002t0001g0013 a0001c0002t0001g0134 others(1): Show a0001c0001t0001g0179 a0001c0002t0001g0013 a0001c0002t0001g0134 a0001c0002t0001g0135	7	376	0.0186	29	c.769 others(46): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19554377	A A	ATATATAT others(22): Show ATATATATCATATTAAAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01070.hp1 others(64): Show HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18979.hp1 NA19030.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0013 a0001c0006t0001 a0001c0009t0002 a0001c0010t0001 a0004c0008t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0137 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0004g0032 a0001c0001t0008g0023 a0001c0001t0009g0193 a0001c0001t0010g0004 a0001c0001t0011g0045 a0001c0002t0001g0179 a0001c0002t0002g0178 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0202 a0001c0002t0012g0186 a0001c0003t0001g0049 a0001c0003t0001g0051 a0001c0003t0002g0039 a0001c0003t0004g0180 a0001c0003t0013g0068 a0001c0006t0001g0054 a0001c0009t0002g0009 a0001c0010t0001g0199 a0004c0008t0001g0030 a0005c0007t0001g0166	67	204	0.3284	29	c.138 others(48): Show c.1385-4295_1385-4294insATATATATTATATTTTAATATGATAT ATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19567551	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	204	0.0098	29	c.138 others(48): Show c.1384+1551_1384+1552insATATATATATATATATATATATATAT ATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SHC2_chr19_411589_466033	459353	G G	GCCAGCGT others(22): Show GCCAGCGTAGGGGGAAGGACCCCACTGAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19091.hp1 HG00558.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	2	212	0.0094	29	c.468 others(46): Show c.468+1175_468+1176insGTTCAGTGGGGTCCTTCCCCCTACGCTG G	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	459382	G G	GCCAGCGT others(22): Show GCCAGCGTAGGGGGAAGGACCCCACTGAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19091.hp1 HG00558.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	2	212	0.0094	29	c.468 others(46): Show c.468+1118_468+1146dupGTTCAGTGGGGTCCTTCCCCCTACGCTG G	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03041.hp1 HG03834.hp2 others(3): Show HG00642.hp1 HG03041.hp1 HG03834.hp2 NA18965.hp2 NA18980.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0004 a0001c0002t0007	a0001c0001t0001g0200 a0001c0001t0002g0145 a0001c0001t0005g0036 others(3): Show a0001c0001t0001g0200 a0001c0001t0002g0145 a0001c0001t0005g0036 a0001c0001t0009g0018 a0001c0002t0004g0130 a0001c0002t0007g0353	6	384	0.0156	29	c.656 others(46): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(22): Show GAAAGGAAAGGAAAGGAAAGGAAGGGAAGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19006.hp1 HG03688.hp1 NA19006.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0067 a0001c0003t0001g0068	2	302	0.0066	29	c.118 others(48): Show c.1182+4945_1182+4946insTCTTCCCTTCCTTTCCTTTCCTTTCC TTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924977	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	302	0.0033	29	c.118 others(48): Show c.1182+4669_1182+4670insCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHH_chr7_155794980_155817463	155795293	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	2	414	0.0048	29	c.76 others(40): Show c.7606_*7607insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHH	ENSG00000164690.8	transcript	ENST00000297261.7	protein_coding		4686		chr7	TogoVar
SHISA9_chr16_12896598_13245416	13071591	T T	TCCTCCCT others(22): Show TCCTCCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0075 a0001c0001t0008g0111 a0001c0001t0008g0075 a0001c0001t0008g0111	2	214	0.0094	29	c.692 others(50): Show c.692-131800_692-131799insCCCTTCCTTCCTTCCTTCCTTCCT TCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA18955.hp2 NA19079.hp1 HG03516.hp1 NA18955.hp2 NA19079.hp1	a0001 a0001	a0001c0130 a0001c0131 a0001c0290 a0001c0130 a0001c0131 a0001c0290	a0001c0130t0087 a0001c0131t0006 a0001c0290t0033 a0001c0130t0087 a0001c0131t0006 a0001c0290t0033	a0001c0130t0087g0230 a0001c0131t0006g0183 a0001c0290t0033g0330 a0001c0130t0087g0230 a0001c0131t0006g0183 a0001c0290t0033g0330	3	380	0.0079	29	c.80 others(40): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL2A_chr1_52628168_52662065	52645413	T T	TTTTGTTT others(22): Show TTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	444	0.0023	29	c.322 others(46): Show c.322+2423_322+2424insTGTTTTGTTTTGTTTTGTTTGTTTTGTT T	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHOC1_chr9_111681171_111799937	111791752	G G	GTAACCAT others(22): Show GTAACCATATTTCTCAAGTGGTCTTGAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0072 a0006c0006t0001g0072	1	296	0.0034	29	c.-36 others(44): Show c.-36-327_-36-299dupTTCTCAAGACCACTTGAGAAATATGGTTA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27			chr9	TogoVar
SHPK_chr17_3603240_3641250	3635240	A A	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03669.hp2 HG01099.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0099 a0002c0002t0002g0100 a0001c0001t0001g0099 a0002c0002t0002g0100	2	382	0.0052	29	c.168 others(44): Show c.168+811_168+812insCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	218	0.0046	29	c.588 others(46): Show c.588-2892_588-2891insAAAAATATATATATATATATATATATAT A	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50618426	T T	TCCTTCCT others(22): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0099 a0017c0025t0001g0099	1	175	0.0057	29	c.295 others(48): Show c.2957+9187_2957+9188insGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50795146	G G	GATATATA others(22): Show GATATATATATATATATATCATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0037 a0005c0005t0037	a0005c0005t0037g0008 a0005c0005t0037g0008	1	175	0.0057	29	c.117 others(48): Show c.117+18755_117+18756insATATATATATGATATATATATATATA TAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	401490	G G	GCCCGCTC others(22): Show GCCCGCTCACCCCCGCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	242	0.0041	29	c.44 others(40): Show c.4405_*4406insGCGGGTGTGAGCGGGCGGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4225		chr11	TogoVar
SIGIRR_chr11_400716_419999	401901	G G	GACCCGCT others(22): Show GACCCGCTCACCCCGACCCCGCTCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	242	0.0041	29	c.39 others(40): Show c.3994_*3995insGGGGGTGAGCGGGGTCGGGGTGAGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3814		chr11	TogoVar
SIK2_chr11_111597449_111735855	111628453	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	198	0.0051	29	c.316 others(46): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14			chr11	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0310 a0002c0003t0007g0310	1	366	0.0027	29	c.30 others(40): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116853178	A A	AAAGACCA others(22): Show AAAGACCAAATAAGTCAAGTCTGATTTTTG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	366	0.0027	29	c.365 others(48): Show c.3656-3924_3656-3896dupCAAAAATCAGACTTGACTTATTTGGT CTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	21/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947170	T T	TATTATTT others(22): Show TATTATTTATATATAATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0355 a0002c0003t0008g0355	1	366	0.0027	29	c.454 others(46): Show c.454+6873_454+6874insTTATATATTATATATTATATATAAATAA T	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947184	A A	AATATATA others(22): Show AATATATAATATATAAATTATTTATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0019 a0003c0005t0005g0019	1	366	0.0027	29	c.454 others(46): Show c.454+6859_454+6860insAATATATAAATAATTTATATATTATATA T	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18962.hp2 HG01943.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0249 a0001c0001t0001g0178 a0001c0001t0001g0249	2	366	0.0055	29	c.274 others(48): Show c.274-64893_274-64865dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp1 HG01255.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0265 a0001c0002t0003g0267 a0001c0002t0003g0265 a0001c0002t0003g0267	2	366	0.0055	29	c.274 others(48): Show c.274-66558_274-66557insATATATATATATATATATATATATTT TTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	164	0.0061	29	c.-37 others(50): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38124995	A A	AGAGAGGG others(22): Show AGAGAGGGAGAGGGAGACCGTGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00558.hp1 others(123): Show HG00099.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0013 a0014 a0016 a0017 a0018 a0022 a0023 a0025	a0001c0001 a0001c0003 a0001c0004 others(25): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0025 a0001c0026 a0001c0032 a0001c0033 a0002c0002 a0002c0014 a0002c0015 a0002c0020 a0003c0005 a0003c0012 a0004c0007 a0005c0011 a0005c0039 a0007c0008 a0009c0013 a0011c0016 a0013c0038 a0014c0019 a0016c0022 a0017c0023 a0018c0031 a0022c0024 a0023c0021 a0025c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0003t0007 a0001c0004t0003 a0001c0006t0009 a0001c0006t0010 a0001c0025t0005 a0001c0026t0004 a0001c0032t0003 a0001c0033t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0002c0002t0020 a0002c0014t0014 a0002c0015t0004 a0002c0015t0018 a0002c0020t0001 a0003c0005t0003 a0003c0005t0011 a0003c0012t0003 a0004c0007t0002 a0005c0011t0001 a0005c0011t0004 a0005c0011t0006 a0005c0039t0001 a0007c0008t0002 a0007c0008t0008 a0009c0013t0001 a0011c0016t0002 a0011c0016t0004 a0013c0038t0005 a0014c0019t0003 a0016c0022t0001 a0017c0023t0002 a0018c0031t0004 a0022c0024t0002 a0023c0021t0003 a0025c0037t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(123): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0139 a0001c0001t0002g0159 a0001c0001t0004g0021 a0001c0001t0004g0036 a0001c0001t0004g0060 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0127 a0001c0001t0005g0003 a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0096 a0001c0001t0005g0115 a0001c0001t0005g0122 a0001c0001t0005g0152 a0001c0001t0006g0007 a0001c0001t0006g0010 a0001c0001t0006g0024 a0001c0001t0006g0052 a0001c0001t0006g0062 a0001c0001t0006g0072 a0001c0001t0012g0103 a0001c0001t0017g0069 a0001c0001t0019g0022 a0001c0001t0021g0045 a0001c0001t0022g0008 a0001c0001t0023g0078 a0001c0001t0024g0077 a0001c0001t0025g0095 a0001c0003t0007g0068 a0001c0004t0003g0070 a0001c0004t0003g0100 a0001c0006t0009g0140 a0001c0006t0009g0141 a0001c0006t0010g0084 a0001c0006t0010g0085 a0001c0025t0005g0155 a0001c0026t0004g0157 a0001c0032t0003g0023 a0001c0033t0005g0131 a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0074 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0028 a0002c0002t0002g0051 a0002c0002t0003g0017 a0002c0002t0003g0025 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0053 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0002t0003g0147 a0002c0002t0008g0031 a0002c0002t0008g0082 a0002c0002t0015g0117 a0002c0002t0020g0038 a0002c0014t0014g0035 a0002c0015t0004g0076 a0002c0015t0018g0108 a0002c0020t0001g0133 a0003c0005t0003g0110 a0003c0005t0003g0138 a0003c0005t0011g0029 a0003c0005t0011g0163 a0003c0012t0003g0160 a0003c0012t0003g0161 a0004c0007t0002g0090 a0004c0007t0002g0126 a0004c0007t0002g0150 a0005c0011t0001g0162 a0005c0011t0004g0102 a0005c0011t0006g0142 a0005c0039t0001g0123 a0007c0008t0002g0135 a0007c0008t0002g0137 a0007c0008t0008g0002 a0009c0013t0001g0050 a0009c0013t0001g0128 a0011c0016t0002g0006 a0011c0016t0004g0004 a0013c0038t0005g0066 a0014c0019t0003g0146 a0016c0022t0001g0030 a0017c0023t0002g0019 a0018c0031t0004g0027 a0022c0024t0002g0119 a0023c0021t0003g0015 a0025c0037t0001g0129	126	164	0.7683	29	c.286 others(48): Show c.2868+5129_2868+5157dupACCGTGGGGAGAGGGAGAGGGAGAGG GAG	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT5_chr6_13569601_13620158	13609652	C C	CAGTTACT others(22): Show CAGTTACTGCTAGATCTCAAGTAGAATTCA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0298 a0001c0002t0006g0298	1	394	0.0025	29	c.858 others(46): Show c.858-2138_858-2137insAGTTACTGCTAGATCTCAAGTAGAATTC A	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding	9/9			chr6	TogoVar
SKAP1_chr17_48128442_48435214	48204973	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01070.hp2 others(15): Show HG00140.hp1 HG00323.hp2 HG01070.hp2 HG01106.hp1 HG02056.hp2 HG02257.hp1 HG02273.hp1 HG02486.hp2 HG02602.hp1 HG02922.hp2 NA18962.hp1 NA18999.hp2 NA19000.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 others(15): Show a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0285	18	292	0.0616	29	c.281 others(48): Show c.281-15474_281-15473insGAAAGAAAGAAAGAAAGAAAGAAAAG AAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	296	0.0034	29	c.796 others(46): Show c.796+7890_796+7918dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar

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