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
SPAST_chr2_32058556_32162637	32110539	A A	AGTATATA others(24): Show AGTATATATATACTATATAGTGTGTATATATG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18998.hp2 NA18973.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0325 a0001c0001t0002g0217 a0001c0001t0002g0325	2	342	0.0059	31	c.683 others(48): Show c.683-4069_683-4068insGGTATATATATACTATATAGTGTGTATA TAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATGATAT others(24): Show TATGATATATAATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0052 a0001c0005t0036g0052	1	356	0.0028	31	c.-11 others(52): Show c.-112+29224_-112+29225insGATATATAATATATATCATATAAC ATATGAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0240 a0001c0006t0010g0240	1	356	0.0028	31	c.65 others(42): Show c.6510_*6511insATATATATATATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172890951	A A	ATATATAT others(24): Show ATATATATATACATATATATATATAATATGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 homoSapiens_chm13v2.hp1 HG02280.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0046 a0002c0002t0001g0023 a0001c0001t0001g0046 a0002c0002t0001g0023	2	200	0.0100	31	c.158 others(50): Show c.1588-1290_1588-1260dupCACATATTATATATATATATGTATAT ATATA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	10/10			chr3	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	360	0.0028	31	c.293 others(44): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	300	0.0033	31	c.39+ others(46): Show c.39+6751_39+6752insAAAAAAAAAAATATATATATATATATATAT A	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	300	0.0033	31	c.39+ others(46): Show c.39+6751_39+6752insAAAAAAAAATATATATATATATATATATAT A	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp1 NA18960.hp2 NA18980.hp1 others(6): Show NA18944.hp1 NA18960.hp2 NA18980.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA19009.hp2 NA19055.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0144 a0001c0001t0177 others(1): Show a0001c0001t0010 a0001c0001t0144 a0001c0001t0177 a0001c0001t0178	a0001c0001t0010g0008 a0001c0001t0010g0107 a0001c0001t0144g0065 others(2): Show a0001c0001t0010g0008 a0001c0001t0010g0107 a0001c0001t0144g0065 a0001c0001t0177g0103 a0001c0001t0178g0069	9	438	0.0206	31	c.71 others(40): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
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	a0002c0004t0007g0055 a0002c0004t0007g0055	1	216	0.0046	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	a0001c0001t0001g0047 a0001c0001t0001g0047	1	358	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	a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0185 a0001c0001t0001g0196	2	358	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	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0213	11	358	0.0307	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	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0004 a0005c0003t0004	a0005c0003t0004g0311 a0005c0003t0004g0312 a0005c0003t0004g0313 others(2): Show a0005c0003t0004g0311 a0005c0003t0004g0312 a0005c0003t0004g0313 a0005c0003t0004g0314 a0005c0003t0004g0315	5	322	0.0155	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	a0001c0001t0001g0037 a0001c0001t0001g0037	1	390	0.0026	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	364	0.0028	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	216	0.0046	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	216	0.0046	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 a0012 others(5): Show a0001 a0007 a0012 a0023 a0024 a0026 a0028 a0030	a0001c0001 a0001c0024 a0001c0039 others(8): Show a0001c0001 a0001c0024 a0001c0039 a0001c0040 a0007c0011 a0012c0015 a0023c0035 a0024c0036 a0026c0038 a0028c0025 a0030c0027	a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 others(9): Show a0001c0001t0001 a0001c0024t0001 a0001c0039t0001 a0001c0040t0001 a0007c0011t0001 a0012c0015t0001 a0012c0015t0010 a0023c0035t0001 a0024c0036t0001 a0026c0038t0001 a0028c0025t0001 a0030c0027t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 others(126): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0342 a0001c0024t0001g0029 a0001c0039t0001g0241 a0001c0040t0001g0275 a0007c0011t0001g0113 a0007c0011t0001g0117 a0007c0011t0001g0123 a0007c0011t0001g0133 a0012c0015t0001g0243 a0012c0015t0001g0282 a0012c0015t0010g0189 a0023c0035t0001g0278 a0024c0036t0001g0296 a0026c0038t0001g0190 a0028c0025t0001g0053 a0030c0027t0001g0052	141	384	0.3672	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	328	0.0122	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	a0001c0001t0006g0033 a0001c0001t0006g0033	1	328	0.0031	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	328	0.0031	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	328	0.0031	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	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0025 a0001c0001t0001g0029	2	328	0.0061	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	a0002c0002t0002g0023 a0002c0002t0002g0045 a0002c0002t0002g0023 a0002c0002t0002g0045	2	356	0.0056	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	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0001 a0007c0026t0001	a0007c0026t0001g0146 a0007c0026t0001g0146	1	356	0.0028	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	a0001c0001t0003g0339 a0001c0001t0003g0339	1	356	0.0028	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	a0001c0001t0001g0189 a0001c0001t0001g0267 a0001c0001t0001g0189 a0001c0001t0001g0267	2	356	0.0056	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	a0001c0006t0001g0014 a0001c0006t0001g0014	1	356	0.0028	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(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0001t0037 a0001c0001t0048 a0001c0003t0004 a0001c0004t0001 a0001c0005t0002 a0001c0007t0004 a0001c0018t0004	a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0200 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0200 a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0338 a0001c0001t0002g0021 a0001c0001t0002g0054 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0295 a0001c0001t0002g0313 a0001c0001t0004g0223 a0001c0001t0004g0260 a0001c0001t0005g0189 a0001c0001t0007g0186 a0001c0001t0012g0085 a0001c0001t0012g0138 a0001c0001t0016g0261 a0001c0001t0020g0263 a0001c0001t0026g0188 a0001c0001t0037g0001 a0001c0001t0048g0136 a0001c0003t0004g0068 a0001c0004t0001g0022 a0001c0005t0002g0052 a0001c0007t0004g0193 a0001c0018t0004g0044	35	404	0.0866	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	260	0.0077	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 a0011 a0001 a0011	a0001c0001 a0011c0016 a0001c0001 a0011c0016	a0001c0001t0001 a0011c0016t0001 a0001c0001t0001 a0011c0016t0001	a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0053 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0011c0016t0001g0054	6	260	0.0231	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 a0001c0001t0002g0051 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0051 a0002c0002t0001g0228	4	260	0.0154	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	260	0.0039	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	a0001c0001t0001g0108 a0001c0001t0003g0120 a0001c0001t0001g0108 a0001c0001t0003g0120	2	144	0.0139	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	224	0.0045	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	a0002c0002t0002g0036 a0002c0002t0002g0036	1	410	0.0024	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	a0001c0001t0002g0228 a0001c0001t0002g0276 a0001c0001t0002g0277 others(2): Show a0001c0001t0002g0228 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0311	5	414	0.0121	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	a0001c0001t0001g0121 a0001c0001t0001g0121	1	414	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 a0010 others(1): Show a0001 a0006 a0010 a0011	a0001c0001 a0001c0015 a0001c0016 others(7): Show a0001c0001 a0001c0015 a0001c0016 a0001c0020 a0001c0028 a0001c0035 a0001c0038 a0006c0019 a0010c0031 a0011c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0015t0001 a0001c0016t0001 a0001c0020t0002 a0001c0028t0020 a0001c0035t0002 a0001c0038t0002 a0006c0019t0002 a0010c0031t0002 a0011c0026t0002	a0001c0001t0001g0025 a0001c0001t0001g0118 a0001c0001t0001g0119 others(80): Show a0001c0001t0001g0025 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0006g0010 a0001c0001t0006g0234 a0001c0001t0015g0225 a0001c0001t0015g0257 a0001c0001t0021g0251 a0001c0001t0022g0222 a0001c0001t0023g0259 a0001c0015t0001g0226 a0001c0015t0001g0270 a0001c0016t0001g0026 a0001c0016t0001g0120 a0001c0020t0002g0247 a0001c0020t0002g0250 a0001c0028t0020g0275 a0001c0035t0002g0246 a0001c0038t0002g0255 a0006c0019t0002g0231 a0006c0019t0002g0248 a0010c0031t0002g0238 a0011c0026t0002g0243	116	414	0.2802	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	a0002c0008t0003g0176 a0002c0008t0003g0176	1	414	0.0024	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 a0012 a0001 a0002 a0012	a0001c0001 a0001c0004 a0001c0018 others(2): Show a0001c0001 a0001c0004 a0001c0018 a0002c0007 a0012c0036	a0001c0001t0002 a0001c0004t0001 a0001c0018t0001 others(3): Show a0001c0001t0002 a0001c0004t0001 a0001c0018t0001 a0002c0007t0008 a0002c0007t0029 a0012c0036t0001	a0001c0001t0002g0308 a0001c0004t0001g0205 a0001c0018t0001g0153 others(3): Show a0001c0001t0002g0308 a0001c0004t0001g0205 a0001c0018t0001g0153 a0002c0007t0008g0166 a0002c0007t0029g0179 a0012c0036t0001g0143	6	414	0.0145	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	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0144 a0001c0010t0011g0145 a0001c0010t0011g0146 others(1): Show a0001c0010t0011g0144 a0001c0010t0011g0145 a0001c0010t0011g0146 a0001c0010t0011g0147	4	414	0.0097	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	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	320	0.0031	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	231	0.0043	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	a0001c0004t0009g0284 a0003c0003t0022g0021 a0001c0004t0009g0284 a0003c0003t0022g0021	2	370	0.0054	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	a0001c0001t0001g0088 a0001c0001t0001g0088	1	312	0.0032	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	370	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	370	0.0054	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	a0030 a0030	a0030c0045 a0030c0045	a0030c0045t0005 a0030c0045t0005	a0030c0045t0005g0187 a0030c0045t0005g0187	1	268	0.0037	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 a0001c0001t0001g0080 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0002t0001g0104	4	246	0.0163	31	c.130 others(50): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar

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