Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
SPOCK3_chr4_166728384_167239494	167078308	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	144	0.0069	-22	c.190 others(41): Show c.190-15793_190-15772delCACACACACACACACACACACA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02897.hp2 HG03209.hp2 others(1): Show HG02723.hp1 HG02897.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0011t0001	a0001c0001t0001g0043 a0001c0001t0006g0029 a0001c0001t0019g0218 others(1): Show a0001c0001t0001g0043 a0001c0001t0006g0029 a0001c0001t0019g0218 a0001c0011t0001g0111	4	224	0.0179	-22	c.677 others(41): Show c.677-21821_677-21800delTTTTTTTTTTTTTTTTTTTTTT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160597	TTATATAT others(15): Show TTATATATATTTATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0130 a0002c0005t0001g0130	1	224	0.0045	-22	c.825 others(41): Show c.825+25052_825+25073delTATATATATTTATATATATTTA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPPL3_chr12_120757510_120909358	120802368	TACATATA others(15): Show TACATATATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp1 NA18522.hp1 HG01099.hp2 HG02622.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0075 a0001c0002t0005g0112 a0001c0002t0005g0151 a0001c0002t0005g0075 a0001c0002t0005g0112 a0001c0002t0005g0151	3	320	0.0094	-22	c.101 others(39): Show c.101+8419_101+8440delGTATATATATACATATATATGT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	2/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38273519	TAATATAT others(15): Show TAATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02486.hp2 others(3): Show HG01109.hp1 HG02055.hp1 HG02486.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0311 a0001c0001t0009g0312 a0001c0001t0009g0313 others(3): Show a0001c0001t0009g0311 a0001c0001t0009g0312 a0001c0001t0009g0313 a0001c0001t0009g0314 a0001c0001t0009g0315 a0001c0001t0009g0319	6	378	0.0159	-22	c.32+ others(39): Show c.32+20303_32+20324delAATATATATATATATATATATA		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6						chr15	TogoVar
SPRED1_chr15_38247836_38362249	38273520	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00558.hp2 others(128): Show HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp2 HG02027.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0002c0003t0002	a0001c0001t0001g0335 a0001c0001t0002g0009 a0001c0001t0002g0017 others(126): Show a0001c0001t0001g0335 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0004g0010 a0001c0001t0004g0163 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0363 a0001c0001t0022g0295 a0001c0001t0022g0307 a0001c0001t0024g0251 a0001c0001t0029g0240 a0001c0001t0031g0269 a0001c0001t0032g0260 a0001c0001t0037g0235 a0001c0001t0038g0365 a0001c0001t0039g0285 a0001c0001t0040g0271 a0001c0001t0042g0343 a0001c0001t0043g0321 a0001c0001t0044g0323 a0001c0001t0045g0255 a0002c0003t0002g0248	131	378	0.3466	-22	c.32+ others(39): Show c.32+20320_32+20341delATATATATATATATATATATAT		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65360079	CAAAAAAA others(15): Show CAAAAAAAAACAAAAAAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00544.hp2 others(75): Show HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG02004.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02273.hp1 HG02486.hp2 HG02523.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp1 NA18999.hp2 NA19011.hp1 NA19030.hp1 NA19058.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0007t0001	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(75): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0003g0123 a0001c0001t0003g0165 a0001c0001t0003g0259 a0001c0001t0012g0008 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0004g0021 a0001c0002t0004g0061 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0015g0117 a0001c0002t0016g0108 a0001c0002t0018g0158 a0001c0007t0001g0201	78	276	0.2826	-22	c.27- others(39): Show c.27-15205_27-15184delTGTTTTTTTTTTGTTTTTTTTT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65419577	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	276	0.0036	-22	c.26+ others(39): Show c.26+12363_26+12384delCACACACACACACACACACACA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRN_chr10_133415666_133429625	133428867	AGCATGCA others(15): Show AGCATGCAGAATAGGATGTTAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01884.hp1 others(5): Show HG00099.hp2 HG01081.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02280.hp2 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0017 a0002c0002t0027 a0002c0003t0003 others(2): Show a0002c0002t0017 a0002c0002t0027 a0002c0003t0003 a0002c0003t0022 a0002c0003t0032	a0002c0002t0017g0022 a0002c0002t0027g0041 a0002c0003t0003g0003 others(2): Show a0002c0002t0017g0022 a0002c0002t0027g0041 a0002c0003t0003g0003 a0002c0003t0022g0030 a0002c0003t0032g0058	8	474	0.0169	-22	c.-44 others(33): Show c.-4433_-4412delCCTAACATCCTATTCTGCATGC		SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding					4243		chr10	TogoVar
SPRR5_chr1_152942206_152954255	152944622	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18955.hp1 NA18980.hp2 others(3): Show HG02083.hp1 NA18955.hp1 NA18980.hp2 NA18986.hp1 NA18997.hp2 NA19010.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0001 a0002c0002t0002 a0005c0005t0001	a0002c0002t0002g0001 a0005c0005t0001g0002 a0002c0002t0002g0001 a0005c0005t0001g0002	6	436	0.0138	-22	c.-26 others(33): Show c.-2644_-2623delGTGTGTGTGTGTGTGTGTGTGC		SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding					2583		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01071.hp1 others(41): Show HG00140.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp1 HG01943.hp1 HG02135.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp2 NA18950.hp1 NA18953.hp1 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18976.hp2 NA18977.hp1 NA18983.hp2 NA19012.hp1 NA19043.hp2 NA19068.hp2 NA19082.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0013 a0001c0001 a0002c0002 a0006c0013	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0008 a0006c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0003g0014 a0001c0001t0003g0072 a0001c0001t0003g0087 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0038 a0002c0002t0002g0077 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0008g0017 a0002c0002t0008g0078 a0002c0002t0008g0127 a0006c0013t0001g0105	44	352	0.1250	-22	c.56 others(33): Show c.5694_*5715delTATATATATATATATATATATA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4032		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359089	TATATATA others(15): Show TATATATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03130.hp2 HG01243.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0003 a0002c0002t0004g0018 a0001c0001t0001g0003 a0002c0002t0004g0018	2	352	0.0057	-22	c.57 others(33): Show c.5729_*5750delATATATATATATATATATATAA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4067		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	231	0.0043	-22	c.-28 others(43): Show c.-282+25701_-282+25722delATATATATATATATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9295195	TGTGTGTG others(15): Show TGTGTGTGTGTGTGAGAGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0018 a0002c0007t0005g0018	1	370	0.0027	-22	c.-15 others(41): Show c.-150+2138_-150+2159delAGAGTGTGAGTGTGTGTGTGTG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9309291	AGAGAGAG others(15): Show AGAGAGAGAGAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02280.hp2 others(2): Show HG01099.hp1 HG02055.hp2 HG02280.hp2 HG02809.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0017 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0020 a0001c0003t0013	a0001c0001t0003g0112 a0001c0001t0017g0206 a0001c0001t0020g0196 others(2): Show a0001c0001t0003g0112 a0001c0001t0017g0206 a0001c0001t0020g0196 a0001c0001t0020g0197 a0001c0003t0013g0111	5	370	0.0135	-22	c.-15 others(43): Show c.-150+16222_-150+16243delAGAGAGAGAGTGTGTGTGTGTG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141151326	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0167 a0001c0001t0015g0167	1	254	0.0039	-22	c.40 others(33): Show c.4058_*4079delTGTGTGTGTGTGTGTGTGTGTG		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2716		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151357	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0227 a0001c0002t0008g0227	1	254	0.0039	-22	c.40 others(33): Show c.4089_*4110delGTGTGTGTGTGTGTGTGTGCGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2747		chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128562970	AAATATAT others(15): Show AAATATATATATACATGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00621.hp1 others(2): Show HG00408.hp1 HG00609.hp2 HG00621.hp1 HG01891.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0027 a0001c0001 a0001c0003 a0001c0027	a0001c0001t0001 a0001c0003t0001 a0001c0027t0001 a0001c0001t0001 a0001c0003t0001 a0001c0027t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0003t0001g0123 others(2): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0003t0001g0123 a0001c0003t0001g0127 a0001c0027t0001g0113	5	312	0.0160	-22	c.-3- others(37): Show c.-3-3767_-3-3746delAATATATATATACATGTATGTG		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56						chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128562983	CATGTATG others(15): Show CATGTATGTGTATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01496.hp2 HG02258.hp1 others(3): Show HG01099.hp2 HG01496.hp2 HG02258.hp1 HG02280.hp1 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0167 a0001c0008t0001g0168 a0001c0008t0001g0169 others(3): Show a0001c0008t0001g0167 a0001c0008t0001g0168 a0001c0008t0001g0169 a0001c0008t0001g0170 a0001c0008t0001g0171 a0001c0008t0001g0172	6	312	0.0192	-22	c.-3- others(37): Show c.-3-3752_-3-3731delGTATGTGTATATATATATATAT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0098 a0001c0004t0004g0132 a0001c0004t0004g0098 a0001c0004t0004g0132	2	370	0.0054	-22	c.-48 others(41): Show c.-48+10068_-48+10089delAAAAAAAAAAAAAAAAAAAAAA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54481391	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0072 a0001c0004t0004g0096 a0001c0004t0004g0072 a0001c0004t0004g0096	2	370	0.0054	-22	c.-48 others(41): Show c.-48+24902_-48+24923delGTGTGTGTGTGTGTGTGTGTGT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54508518	TGGGCTAG others(15): Show TGGGCTAGCGGGTTCTAAGAGGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02273.hp2 HG02486.hp2 others(13): Show HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 others(1): Show a0001c0002 a0001c0005 a0001c0007 a0001c0008	a0001c0002t0006 a0001c0005t0008 a0001c0005t0011 others(3): Show a0001c0002t0006 a0001c0005t0008 a0001c0005t0011 a0001c0005t0021 a0001c0007t0013 a0001c0008t0005	a0001c0002t0006g0154 a0001c0005t0008g0041 a0001c0005t0008g0048 others(13): Show a0001c0002t0006g0154 a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0062 a0001c0005t0008g0269 a0001c0005t0011g0038 a0001c0005t0011g0051 a0001c0005t0011g0253 a0001c0005t0011g0254 a0001c0005t0021g0040 a0001c0005t0021g0052 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0008t0005g0045	16	370	0.0432	-22	c.-47 others(41): Show c.-47-17843_-47-17822delGTTCTAAGAGGCGGGCTAGCGG		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77564397	GCATACAC others(15): Show GCATACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	246	0.0041	-22	c.757 others(39): Show c.757-1930_757-1909delTGTGTGTGTGTGTGTGTGTATG		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11						chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0191 a0002c0006t0005g0191	1	292	0.0034	-22	c.304 others(39): Show c.304-5175_304-5154delATATATATATATATATATATAT		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSB_chr3_161339798_161376517	161369292	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18962.hp1 NA18964.hp1 others(11): Show HG00673.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18986.hp2 NA18994.hp1 NA18998.hp1 NA19006.hp1 NA19010.hp2 NA19057.hp1 NA19058.hp2 NA19080.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0212 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0021g0214	14	412	0.0340	-22	c.-12 others(41): Show c.-126+2121_-126+2142delGAAAGAAAGAAAGAAAGAAAGA		SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2						chr3	TogoVar
SQLE_chr8_124993505_125027283	125001468	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	378	0.0027	-22	c.292 others(39): Show c.292-1706_292-1685delGTGTGTGTGTGTGTGTGTGTAT		SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(15): Show CAAACAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02622.hp2 NA20129.hp1 HG01346.hp1 HG02622.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	3	358	0.0084	-22	c.205 others(41): Show c.2050-1634_2050-1613delTTTTTTTTTTTTTTTTTTGTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20						chr2	TogoVar
SRCAP_chr16_30694171_30746409	30702575	CTCCCTCC others(15): Show CTCCCTCCCTCCCTTCCCTGCCT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18965.hp1 NA18980.hp2 NA18939.hp2 NA18965.hp1 NA18980.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0019 a0001c0001 a0009c0019	a0001c0001t0001 a0009c0019t0001 a0001c0001t0001 a0009c0019t0001	a0001c0001t0001g0043 a0001c0001t0001g0139 a0009c0019t0001g0108 a0001c0001t0001g0043 a0001c0001t0001g0139 a0009c0019t0001g0108	3	208	0.0144	-22	c.55- others(37): Show c.55-1475_55-1454delTCCCTGCCTTCCCTCCCTCCCT		SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr16	TogoVar
SRC_chr20_37341140_37411050	37365319	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	282	0.0036	-22	c.-17 others(37): Show c.-173+73_-173+94delACACACACACACACACACACAC		SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31583630	AAAAAAAA others(15): Show AAAAAAAAAGCAAAAAAAAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	386	0.0026	-22	c.-27 others(33): Show c.-2752_-2731delGGTTTTTTTTTTGCTTTTTTTT		SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding					2693		chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31583641	AAAAAAAA others(15): Show AAAAAAAAAACCAAAAAAAAAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG02647.hp2 others(4): Show HG01243.hp2 HG02615.hp1 HG02647.hp2 HG02965.hp2 HG03225.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0241	7	386	0.0181	-22	c.-27 others(33): Show c.-2763_-2742delGCTTTTTTTTTGGTTTTTTTTT		SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding					2704		chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55343115	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(64): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp2 NA18983.hp2 NA18986.hp2 NA18998.hp1 NA19009.hp2 NA19010.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19089.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048	a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0003 others(44): Show a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0092 a0001c0001t0003g0099 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0182 a0001c0001t0004g0001 a0001c0001t0004g0025 a0001c0001t0004g0089 a0001c0001t0004g0113 a0001c0001t0005g0001 a0001c0001t0005g0022 a0001c0001t0005g0088 a0001c0001t0005g0093 a0001c0001t0005g0100 a0001c0001t0005g0118 a0001c0001t0006g0112 a0001c0001t0008g0120 a0001c0001t0009g0162 a0001c0001t0010g0001 a0001c0001t0010g0003 a0001c0001t0010g0005 a0001c0001t0010g0024 a0001c0001t0010g0094 a0001c0001t0010g0098 a0001c0001t0013g0001 a0001c0001t0013g0105 a0001c0001t0014g0097 a0001c0001t0021g0001 a0001c0001t0026g0124 a0001c0001t0026g0127 a0001c0001t0028g0123 a0001c0001t0029g0003 a0001c0001t0044g0001 a0001c0001t0045g0102 a0001c0001t0047g0003 a0001c0001t0048g0001	67	384	0.1745	-22	c.-32 others(33): Show c.-3221_-3200delAAAAAAAAAAAAAAAAAAAAAA		SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding					3126		chr4	TogoVar
SREK1_chr5_66139300_66188615	66184223	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	386	0.0026	-22	c.53 others(33): Show c.5356_*5377delTTTTTTTTTTTTTTTTTTTTTT		SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding					609		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03139.hp2 NA18906.hp2 HG02300.hp2 HG03139.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0072 a0001c0002t0031 a0003c0005t0135 a0001c0001t0072 a0001c0002t0031 a0003c0005t0135	a0001c0001t0072g0011 a0001c0002t0031g0063 a0003c0005t0135g0162 a0001c0001t0072g0011 a0001c0002t0031g0063 a0003c0005t0135g0162	3	170	0.0177	-22	c.68- others(34): Show c.68-113_68-92delATATATATATATATATATATAT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63992660	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA20805.hp2 HG03098.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0141 a0001c0002t0034 a0001c0001t0141 a0001c0002t0034	a0001c0001t0141g0012 a0001c0002t0034g0002 a0001c0001t0141g0012 a0001c0002t0034g0002	2	170	0.0118	-22	c.426 others(39): Show c.426+2623_426+2644delACACACACACACACACACACAC		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64101308	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0045 a0001c0002t0040 a0001c0002t0045	a0001c0002t0040g0019 a0001c0002t0045g0082 a0001c0002t0040g0019 a0001c0002t0045g0082	2	170	0.0118	-22	c.181 others(41): Show c.1813+3955_1813+3976delTGTGTGTGTGTGTGTGTGTGTG		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882623	TGCAAAAA others(15): Show TGCAAAAAGCAGTGGTGGCGCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0018 a0008c0007t0018	a0008c0007t0018g0001 a0008c0007t0018g0001	1	56	0.0179	-22	c.95 others(33): Show c.9515_*9536delCCGCGCCACCACTGCTTTTTGC		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					4664		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	56	0.0179	-22	c.67+ others(39): Show c.67+48163_67+48184delTTTTTTTTTTTTTTTTTTTTTT		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9						chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145068893	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0018 a0008c0007t0018	a0008c0007t0018g0001 a0008c0007t0018g0001	1	56	0.0179	-22	c.67+ others(39): Show c.67+23920_67+23941delCACACACACACACACACACACA		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9						chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206263671	ATTGAGTA others(15): Show ATTGAGTATTTAACTTTGTGCTG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	182	0.0055	-22	c.68- others(39): Show c.68-39609_68-39588delTTGAGTATTTAACTTTGTGCTG		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22						chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9096960	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 NA20805.hp1 others(1): Show HG00639.hp2 HG01099.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0121 a0001c0001t0001g0167 a0001c0001t0002g0166 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0167 a0001c0001t0002g0166 a0001c0006t0001g0192	4	228	0.0175	-22	c.423 others(39): Show c.423+7698_423+7719delGTATATATATATATATATATAT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21						chr3	TogoVar
SRMS_chr20_63533489_63552749	63535842	CCTCACCT others(15): Show CCTCACCTGGCCTCCCGCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-22	c.49 others(33): Show c.4954_*4975delAGGGGGCGGGAGGCCAGGTGAG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2646		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535980	CCTCACCT others(15): Show CCTCACCTGGCCTCCCGCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0016 a0002c0003t0013g0016	1	356	0.0028	-22	c.48 others(33): Show c.4816_*4837delAGGGGGCGGGAGGCCAGGTGAG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2508		chr20	TogoVar
SRMS_chr20_63533489_63552749	63536020	CCCCCTCC others(15): Show CCCCCTCCTCTCCTGGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0009 a0002c0003t0004g0009	1	356	0.0028	-22	c.47 others(33): Show c.4776_*4797delCGGGAGGCCAGGAGAGGAGGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2468		chr20	TogoVar
SRMS_chr20_63533489_63552749	63536044	CCCCTCCT others(15): Show CCCCTCCTCTCCTGGCCTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0010 a0006c0008t0010	a0006c0008t0010g0064 a0006c0008t0010g0064	1	356	0.0028	-22	c.47 others(33): Show c.4752_*4773delACGGGAGGCCAGGAGAGGAGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2444		chr20	TogoVar
SRP54_chr14_34977992_35034567	34981184	TACACACA others(15): Show TACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03453.hp1 HG01433.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0346 a0001c0001t0002g0390 a0001c0001t0002g0346 a0001c0001t0002g0390	2	396	0.0051	-22	c.-20 others(33): Show c.-2064_-2043delACACACACACACACACACACAC		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding					1807		chr14	TogoVar
SRP54_chr14_34977992_35034567	34995134	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	396	0.0025	-22	c.-33 others(39): Show c.-33-1510_-33-1489delGTGTGTGTGTGTGTGTGTGTGT		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062729	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp1 NA19043.hp2 HG01891.hp2 NA19030.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0003c0008t0003 a0001c0001t0002 a0003c0008t0003	a0001c0001t0002g0158 a0003c0008t0003g0018 a0001c0001t0002g0158 a0003c0008t0003g0018	3	365	0.0082	-22	c.562 others(39): Show c.562-1177_562-1156delTATATATATATATATATATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRPK2_chr7_105111374_105393921	105205513	TCTCTCAC others(15): Show TCTCTCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	282	0.0036	-22	c.72- others(37): Show c.72-1750_72-1729delTGTGTGTGTGTGTGTGTGAGAG		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15						chr7	TogoVar
SRRD_chr22_26478877_26499658	26483989	GCCCCGGG others(15): Show GCCCCGGGGGAGAGAGGCGGCGC	G G	frameshift_variant frameshift_variant	HIGH	NA18976.hp1 NA18976.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0010 a0005c0009t0004g0010	1	448	0.0022	-22	c.103 others(29): Show c.103_124delCGGGGGAGAGAGGCGGCGCCCC	p.Arg others(4): Show p.Arg35fs	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	1/7	117/4020	103/1020	35/339		INFO_REALIGN_3_PRIME	chr22	TogoVar

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