Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPDYE10_chr7_73099008_73160431	73134537	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0054 a0002c0004t0007g0054	1	9	0.1111	31	c.-63 others(52): Show c.-639-18996_-639-18995insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPG7_chr16_89503403_89562766	89535916	T T	TCTCTGGT others(24): Show TCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	352	0.0028	31	c.132 others(50): Show c.1324+3292_1324+3293insGTGGCCTTCAGTGTGGCCGCTCTGGT GCTGT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89535947	T T	TCTCTGGT others(24): Show TCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19000.hp1 HG03491.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0188 a0001c0001t0001g0199	2	355	0.0056	31	c.132 others(50): Show c.1324+3333_1324+3334insGTGTGGCCGCTCTGGTGCTGTGTGGC CTTCA	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89536317	G G	GCTCTGGT others(24): Show GCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp2 HG02148.hp1 others(8): Show HG00621.hp2 HG01243.hp2 HG02148.hp1 HG03492.hp1 HG03834.hp2 HG04228.hp2 NA18980.hp2 NA19054.hp2 NA19065.hp2 NA19077.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 others(8): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0138 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0216	11	176	0.0625	31	c.132 others(50): Show c.1324+3710_1324+3711insCTCTCTGGTGCTGTGTGGCCTTCAGT GTGGC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHKAP_chr2_227974955_228186687	228092554	G G	GTATATTA others(24): Show GTATATTATATGTGTATATATGTATATACATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18981.hp1 NA18995.hp1 others(2): Show NA18964.hp1 NA18981.hp1 NA18995.hp1 NA19000.hp1 NA19068.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0311 a0004c0003t0004g0312 a0004c0003t0004g0313 others(2): Show a0004c0003t0004g0311 a0004c0003t0004g0312 a0004c0003t0004g0313 a0004c0003t0004g0314 a0004c0003t0004g0315	5	315	0.0159	31	c.246 others(50): Show c.246+16277_246+16278insTATGTATATACATATATACACATATA ATATA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47381507	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	374	0.0027	31	c.-31 others(42): Show c.-3155_-3154insATATATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2961		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAGAAAG others(24): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	90	0.0111	31	c.611 others(48): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	74	0.0135	31	c.109 others(52): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT ATATTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	74	0.0135	31	c.109 others(52): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT TTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(24): Show TTATATATAGATAGATATTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(138): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0007 a0010 others(5): Show a0001 a0007 a0010 a0022 a0024 a0025 a0026 a0029	a0001c0001 a0001c0024 a0001c0039 others(8): Show a0001c0001 a0001c0024 a0001c0039 a0001c0040 a0007c0011 a0010c0015 a0022c0027 a0024c0038 a0025c0035 a0026c0036 a0029c0025	a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 others(9): Show a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 a0001c0040t0001 a0007c0011t0001 a0010c0015t0001 a0010c0015t0010 a0022c0027t0001 a0024c0038t0001 a0025c0035t0001 a0026c0036t0001 a0029c0025t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0025 others(122): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0313 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0331 a0001c0024t0001g0033 a0001c0039t0001g0307 a0001c0040t0001g0227 a0007c0011t0001g0117 a0007c0011t0001g0120 a0007c0011t0001g0126 a0007c0011t0001g0136 a0010c0015t0001g0196 a0010c0015t0001g0232 a0010c0015t0010g0188 a0022c0027t0001g0058 a0024c0038t0001g0189 a0025c0035t0001g0230 a0026c0036t0001g0248 a0029c0025t0001g0059	141	362	0.3895	31	c.253 others(48): Show c.2539-411_2539-410insGATAGATATTATCTATCTATCTATATAT ATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12454566	G G	GATTAGTA others(24): Show GATTAGTAGCTTCAGAGAAGAGAACAGGTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp2 NA18906.hp1 others(1): Show HG01243.hp1 HG02970.hp2 NA18906.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0055 others(1): Show a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056	4	326	0.0123	31	c.163 others(47): Show c.1639-114_1639-84dupGAAACCTGTTCTCTTCTCTGAAGCTACTA AT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0032	1	138	0.0072	31	c.372 others(50): Show c.372+19716_372+19717insATATATATATTTTTTTTTTTTTTTTT TTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	138	0.0072	31	c.372 others(50): Show c.372+19716_372+19717insATATATATATATATTTTTTTTTTTTT TTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0269 a0001c0001t0031g0269	1	138	0.0072	31	c.372 others(50): Show c.372+19716_372+19717insATATATATATATATATTTTTTTTTTT TTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18984.hp1 HG03491.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0024 a0001c0001t0001g0028	2	139	0.0144	31	c.372 others(50): Show c.372+19716_372+19717insATATATATATATATATATTTTTTTTT TTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(24): Show ACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19062.hp1 HG00323.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0278 a0002c0002t0002g0258 a0002c0002t0002g0278	2	323	0.0062	31	c.180 others(48): Show c.1807-522_1807-521insCATATATATATATATATATATATATATA TAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0170 a0011c0026t0001g0170	1	30	0.0333	31	c.180 others(48): Show c.1807-513_1807-512insAAAAAAAAATATATATATATATATATAT ATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAC others(24): Show AAAAAAACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0323	1	30	0.0333	31	c.180 others(48): Show c.1807-513_1807-512insAAAAACATATATATATATATATATATAT ATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19081.hp2 NA18951.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0283 a0001c0001t0001g0048 a0001c0001t0001g0283	2	31	0.0645	31	c.180 others(48): Show c.1807-513_1807-512insAAAAATATATATATATATATATATATAT ATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0018 a0001c0006t0001g0018	1	30	0.0333	31	c.180 others(48): Show c.1807-514_1807-513insTATATATATATATATATATATATATATA TAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01243.hp2 HG01978.hp1 others(32): Show HG00597.hp2 HG01243.hp2 HG01978.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG03453.hp1 HG03669.hp2 HG04115.hp2 HG04184.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18965.hp2 NA18973.hp1 NA18980.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19030.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0001t0037 a0001c0001t0048 a0001c0003t0004 a0001c0004t0001 a0001c0005t0002 a0001c0007t0004	a0001c0001t0001g0006 a0001c0001t0001g0082 a0001c0001t0001g0201 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0082 a0001c0001t0001g0201 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0336 a0001c0001t0002g0021 a0001c0001t0002g0054 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0293 a0001c0001t0002g0310 a0001c0001t0004g0045 a0001c0001t0004g0224 a0001c0001t0004g0260 a0001c0001t0005g0190 a0001c0001t0007g0187 a0001c0001t0012g0086 a0001c0001t0012g0139 a0001c0001t0016g0261 a0001c0001t0020g0263 a0001c0001t0026g0189 a0001c0001t0037g0002 a0001c0001t0048g0137 a0001c0003t0004g0069 a0001c0004t0001g0023 a0001c0005t0002g0053 a0001c0007t0004g0194	35	76	0.4605	31	c.-40 others(42): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18980.hp1 HG02165.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0048 a0001c0001t0002g0055	2	36	0.0556	31	c.-12 others(42): Show c.-1200_-1199insAAAAAAATATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02683.hp1 HG03225.hp1 others(3): Show HG01069.hp1 HG02683.hp1 HG03225.hp1 HG03239.hp1 HG04228.hp2 NA19043.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0016 a0001c0001 a0015c0016	a0001c0001t0001 a0015c0016t0001 a0001c0001t0001 a0015c0016t0001	a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0053 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0015c0016t0001g0054	6	40	0.1500	31	c.-12 others(42): Show c.-1200_-1199insAAAAAAAAATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG02258.hp2 others(1): Show HG00423.hp2 HG00558.hp1 HG02258.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0050 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0050 a0002c0002t0001g0228	4	38	0.1053	31	c.-12 others(42): Show c.-1200_-1199insAAAAAAAAAAATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	35	0.0286	31	c.-12 others(42): Show c.-1200_-1199insAAAAAAAAAAAAAAATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167116625	A A	ACGTATAT others(24): Show ACGTATATACTATATACGTATATATATACACG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp1 HG02965.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0120 a0001c0001t0001g0106 a0001c0001t0003g0120	2	94	0.0213	31	c.190 others(50): Show c.190-54089_190-54088insCGTGTATATATATACGTATATAGTAT ATACG	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	67	0.0149	31	c.69 others(42): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPOUT1_chr9_128814651_128834794	128815218	A A	ATCGAGGC others(24): Show ATCGAGGCAGCGGCAGGCTCCTGCTGTGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	408	0.0025	31	c.75 others(42): Show c.7546_*7547insCGCTCACAGCAGGAGCCTGCCGCTGCCTCGA	SPOUT1	ENSG00000198917.13	transcript	ENST00000361256.10	protein_coding		4432		chr9	TogoVar
SPPL2B_chr19_2323684_2360095	2335215	T T	TCCACTGC others(24): Show TCCACTGCATCCTTCAGGCCCCGCCTCCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG03490.hp2 others(2): Show HG00642.hp1 HG01891.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0261 a0001c0001t0002g0262 others(2): Show a0001c0001t0002g0216 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0291	5	349	0.0143	31	c.186 others(46): Show c.186+583_186+613dupCTTTCCCACTGCATCCTTCAGGCCCCGCCT C	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2335234	C C	CCCGCCTC others(24): Show CCCGCCTCCTTTCCCACTGCATCCTTCAGGCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	412	0.0024	31	c.186 others(46): Show c.186+543_186+544insTCCGCCTCCTTTCCCACTGCATCCTTCAGG C	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2335319	C C	CTTCAGGC others(24): Show CTTCAGGCCCCGCCTCCTTTCCCACTGCATCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(113): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0012	a0001c0001 a0001c0015 a0001c0016 others(7): Show a0001c0001 a0001c0015 a0001c0016 a0001c0020 a0001c0028 a0001c0035 a0001c0038 a0006c0019 a0009c0026 a0012c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0015t0001 a0001c0016t0001 a0001c0020t0002 a0001c0028t0019 a0001c0035t0002 a0001c0038t0002 a0006c0019t0002 a0009c0026t0002 a0012c0031t0002	a0001c0001t0001g0032 a0001c0001t0001g0120 a0001c0001t0001g0121 others(74): Show a0001c0001t0001g0032 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0006g0014 a0001c0001t0006g0224 a0001c0001t0014g0213 a0001c0001t0014g0241 a0001c0001t0020g0237 a0001c0001t0021g0210 a0001c0001t0022g0243 a0001c0015t0001g0214 a0001c0015t0001g0253 a0001c0016t0001g0033 a0001c0016t0001g0122 a0001c0020t0002g0233 a0001c0020t0002g0236 a0001c0028t0019g0260 a0001c0035t0002g0232 a0001c0038t0002g0255 a0006c0019t0002g0219 a0006c0019t0002g0234 a0009c0026t0002g0228 a0012c0031t0002g0226	116	403	0.2878	31	c.186 others(46): Show c.186+613_186+614insCTTTCCCACTGCATCATTCAGGCCCCGCCT C	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2335350	C C	CTTCAGGC others(24): Show CTTCAGGCCCCGCCTCCTTTCCCACTGCATCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0041 a0002c0008t0003g0041	1	390	0.0026	31	c.186 others(46): Show c.186+649_186+650insCCACTGCATCATTCAGGCCCCGCCTCCTTT C	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349025	C C	CTCCACAC others(24): Show CTCCACACGCGCTCTCATTCGCTCGATTCCGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp1 HG01934.hp2 others(3): Show HG00544.hp1 HG01243.hp1 HG01934.hp2 HG01952.hp1 HG02809.hp2 NA18972.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0004 a0001c0018 others(2): Show a0001c0001 a0001c0004 a0001c0018 a0002c0007 a0010c0036	a0001c0001t0002 a0001c0004t0001 a0001c0018t0001 others(3): Show a0001c0001t0002 a0001c0004t0001 a0001c0018t0001 a0002c0007t0003 a0002c0007t0028 a0010c0036t0001	a0001c0001t0002g0288 a0001c0004t0001g0194 a0001c0018t0001g0149 others(3): Show a0001c0001t0002g0288 a0001c0004t0001g0194 a0001c0018t0001g0149 a0002c0007t0003g0161 a0002c0007t0028g0172 a0010c0036t0001g0142	6	408	0.0147	31	c.135 others(50): Show c.1355-2407_1355-2406insCACACGCGCTCTCATTCGCTCGATTC CGTTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349025	C C	CTCCACAC others(24): Show CTCCACACGCGCTCTCATTCGCTCGATTCTGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02738.hp1 HG03831.hp2 others(1): Show HG02683.hp1 HG02738.hp1 HG03831.hp2 NA20129.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0037 a0001c0010t0010g0144 a0001c0010t0010g0145 a0001c0010t0010g0037 a0001c0010t0010g0144 a0001c0010t0010g0145	4	406	0.0099	31	c.135 others(50): Show c.1355-2407_1355-2406insCACACGCGCTCTCATTCGCTCGATTC TGTTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830493	A A	AGGGGGGG others(24): Show AGGGGGGGAAGAAGGGGGAGGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	317	0.0032	31	c.24- others(48): Show c.24-19608_24-19607insCTCCCCTTCCCCCTCCCCCTTCTTCCCC CCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	116	0.0086	31	c.-28 others(50): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18983.hp2 HG01358.hp2 NA18983.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0009 a0003c0003t0022 a0001c0004t0009 a0003c0003t0022	a0001c0004t0009g0005 a0003c0003t0022g0025 a0001c0004t0009g0005 a0003c0003t0022g0025	2	164	0.0122	31	c.258 others(50): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	22	0.0455	31	c.-3- others(46): Show c.-3-5050_-3-5049insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54517350	G G	GATACAAC others(24): Show GATACAACAATATTTCATAATATTAACAGCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0027g0053 a0001c0003t0027g0054	2	368	0.0054	31	c.-47 others(48): Show c.-47-9019_-47-8989dupACAACAATATTTCATAATATTAACAGCT CAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG02486.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0021 a0001c0005t0008 a0001c0005t0021	a0001c0005t0008g0041 a0001c0005t0021g0040 a0001c0005t0008g0041 a0001c0005t0021g0040	2	93	0.0215	31	c.149 others(48): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0021 a0021	a0021c0045 a0021c0045	a0021c0045t0005 a0021c0045t0005	a0021c0045t0005g0187 a0021c0045t0005g0187	1	151	0.0066	31	c.660 others(50): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(24): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01981.hp1 NA18948.hp2 others(1): Show HG01934.hp2 HG01981.hp1 NA18948.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0098 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0002t0001g0103	4	29	0.1379	31	c.130 others(50): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	200	0.0050	31	c.61- others(46): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45683026	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18906.hp2 HG02809.hp2 NA18906.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0094 a0005c0008t0001g0326 a0005c0008t0001g0094 a0005c0008t0001g0326	2	242	0.0083	31	c.104 others(48): Show c.1048+381_1048+382insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0191 a0001c0002t0003g0191	1	16	0.0625	31	c.345 others(48): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRD5A1_chr5_6628440_6679386	6672827	A A	AAAAAACT others(24): Show AAAAAACTAGCTAGTTCTCTCAATAAAATAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0001 a0001c0001t0069g0001	1	404	0.0025	31	c.45 others(42): Show c.4561_*4591dupAAAACTAGCTAGTTCTCTCAATAAAATAATA	SRD5A1	ENSG00000145545.13	transcript	ENST00000274192.7	protein_coding	5/5	4592	INFO_REALIGN_3_PRIME	chr5	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	194	0.0052	31	c.91+ others(46): Show c.91+7521_91+7522insATATATATATATATTTTTTTTTTTTTTTTT T	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17841501	G G	GAGAGATT others(24): Show GAGAGATTTAGGAGCTGTGGGGGGGTGGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	350	0.0029	31	c.-46 others(42): Show c.-4685_-4684insTACTCCACCCCCCCACAGCTCCTAAATCTCT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		4516		chr17	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0138 a0001c0001t0111g0138	1	61	0.0164	31	c.801 others(48): Show c.801+1124_801+1125insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRP68_chr17_76033785_76077517	76062503	A A	ACATTATA others(24): Show ACATTATATATTATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	337	0.0030	31	c.562 others(46): Show c.562-930_562-929insATATATAATGTATATTATATAATATATAAT G	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar

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