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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
SPI1_chr11_47349860_47383547	47380561	T T	TTTGTTGT others(20): Show TTTGTTGTTGTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02083.hp2 HG02258.hp1 others(5): Show HG00733.hp2 HG02083.hp2 HG02258.hp1 HG02615.hp1 HG03225.hp1 NA18945.hp2 NA19011.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0118 a0001c0001t0001g0120	8	390	0.0205	27	c.-22 others(38): Show c.-2209_-2208insCAACAACAACAACAACAACAACAACAA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2015		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381507	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	390	0.0026	27	c.-31 others(38): Show c.-3155_-3154insATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2961		chr11	TogoVar
SPIC_chr12_101470336_101491997	101475690	T T	TTGTGGAG others(20): Show TTGTGGAGCATTTTAGTCAAAGAGAACA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	398	0.0025	27	c.-78 others(42): Show c.-78+192_-78+218dupGGAGCATTTTAGTCAAAGAGAACATGT	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	216	0.0046	27	c.109 others(48): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT ATT	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(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00438.hp1 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0043 a0001c0001t0002g0045	2	216	0.0093	27	c.109 others(48): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT TTT	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(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	216	0.0046	27	c.109 others(48): Show c.1098-29818_1098-29817insATATATATATATATATATATTTTT TTT	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(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	216	0.0046	27	c.109 others(48): Show c.1098-29818_1098-29817insATATATATATATATATATTTTTTT TTT	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(20): Show TTATATATAGATAGATATTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	384	0.0026	27	c.253 others(44): Show c.2539-411_2539-410insGATAGATATTATCTATCTATATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	400	0.0025	27	c.391 others(42): Show c.391+296_391+322dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0019 a0001c0001t0014g0019	1	328	0.0031	27	c.372 others(46): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTTTTTTT T	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18977.hp2 HG02280.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0206 a0001c0001t0001g0021 a0001c0001t0001g0206	2	328	0.0061	27	c.372 others(46): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTTTTTT T	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(20): Show ACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	356	0.0028	27	c.180 others(44): Show c.1807-522_1807-521insCATATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869049	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	356	0.0028	27	c.180 others(44): Show c.1807-518_1807-517insTATATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	356	0.0028	27	c.180 others(44): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	356	0.0028	27	c.180 others(44): Show c.1807-513_1807-512insATATATATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01123.hp1 HG01123.hp2 others(12): Show HG00438.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01934.hp1 HG02148.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG03471.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0001t0046 a0001c0014t0002	a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0075 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0002g0074 a0001c0001t0002g0115 a0001c0001t0003g0048 a0001c0001t0004g0331 a0001c0001t0005g0003 a0001c0001t0023g0370 a0001c0001t0046g0104 a0001c0014t0002g0139	15	404	0.0371	27	c.-40 others(38): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS2_chr17_4493881_4544035	4519605	G G	GCACACGT others(20): Show GCACACGTGAGCTGAGCGAGGGCTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(400): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0044 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0024 a0001c0003t0041 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002 a0001c0006t0027 a0001c0007t0004 a0001c0008t0004 a0001c0009t0015 a0001c0010t0001 a0001c0012t0002 a0001c0013t0045 a0001c0014t0002 a0001c0015t0002 a0001c0016t0001 a0001c0017t0002 a0001c0018t0004 a0002c0011t0032	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(368): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0266 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0328 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0347 a0001c0001t0002g0358 a0001c0001t0003g0008 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0039 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0073 a0001c0001t0003g0086 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0116 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0276 a0001c0001t0003g0323 a0001c0001t0003g0327 a0001c0001t0004g0019 a0001c0001t0004g0055 a0001c0001t0004g0101 a0001c0001t0004g0125 a0001c0001t0004g0150 a0001c0001t0004g0223 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0233 a0001c0001t0004g0237 a0001c0001t0004g0260 a0001c0001t0004g0331 a0001c0001t0004g0352 a0001c0001t0004g0354 a0001c0001t0004g0356 a0001c0001t0005g0003 a0001c0001t0005g0169 a0001c0001t0005g0179 a0001c0001t0005g0184 a0001c0001t0005g0189 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0006g0015 a0001c0001t0006g0027 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0007g0163 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0177 a0001c0001t0007g0186 a0001c0001t0008g0004 a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0168 a0001c0001t0009g0185 a0001c0001t0009g0190 a0001c0001t0010g0040 a0001c0001t0010g0199 a0001c0001t0010g0201 a0001c0001t0010g0210 a0001c0001t0010g0215 a0001c0001t0011g0362 a0001c0001t0011g0363 a0001c0001t0012g0085 a0001c0001t0012g0118 a0001c0001t0012g0138 a0001c0001t0012g0325 a0001c0001t0013g0002 a0001c0001t0013g0043 a0001c0001t0014g0078 a0001c0001t0014g0140 a0001c0001t0014g0335 a0001c0001t0014g0339 a0001c0001t0015g0175 a0001c0001t0015g0187 a0001c0001t0016g0056 a0001c0001t0016g0261 a0001c0001t0016g0317 a0001c0001t0017g0364 a0001c0001t0017g0369 a0001c0001t0018g0109 a0001c0001t0018g0110 a0001c0001t0019g0070 a0001c0001t0019g0227 a0001c0001t0020g0263 a0001c0001t0020g0273 a0001c0001t0021g0368 a0001c0001t0022g0366 a0001c0001t0023g0370 a0001c0001t0025g0173 a0001c0001t0026g0188 a0001c0001t0028g0178 a0001c0001t0029g0174 a0001c0001t0030g0183 a0001c0001t0031g0029 a0001c0001t0033g0028 a0001c0001t0034g0026 a0001c0001t0035g0030 a0001c0001t0036g0224 a0001c0001t0037g0001 a0001c0001t0038g0220 a0001c0001t0039g0332 a0001c0001t0040g0264 a0001c0001t0042g0154 a0001c0001t0043g0320 a0001c0001t0046g0104 a0001c0001t0047g0345 a0001c0001t0048g0136 a0001c0001t0049g0122 a0001c0001t0050g0130 a0001c0001t0051g0192 a0001c0001t0052g0180 a0001c0002t0004g0069 a0001c0002t0004g0071 a0001c0002t0004g0235 a0001c0002t0004g0349 a0001c0002t0004g0350 a0001c0002t0006g0158 a0001c0002t0011g0365 a0001c0002t0011g0367 a0001c0002t0044g0232 a0001c0003t0004g0068 a0001c0003t0004g0230 a0001c0003t0004g0351 a0001c0003t0005g0176 a0001c0003t0006g0159 a0001c0003t0007g0167 a0001c0003t0024g0170 a0001c0003t0041g0067 a0001c0004t0001g0022 a0001c0004t0002g0123 a0001c0004t0002g0267 a0001c0004t0002g0292 a0001c0004t0002g0293 a0001c0004t0002g0294 a0001c0005t0002g0047 a0001c0005t0002g0052 a0001c0005t0002g0076 a0001c0005t0002g0119 a0001c0005t0002g0147 a0001c0006t0002g0194 a0001c0006t0027g0191 a0001c0007t0004g0193 a0001c0008t0004g0072 a0001c0009t0015g0164 a0001c0010t0001g0149 a0001c0012t0002g0242 a0001c0013t0045g0222 a0001c0014t0002g0139 a0001c0015t0002g0064 a0001c0016t0001g0334 a0001c0017t0002g0045 a0001c0018t0004g0044 a0002c0011t0032g0161	403	404	0.9975	27	c.437 others(44): Show c.437-5447_437-5446insGTGAGCTGAGCGAGGGCTTCCCCACAC	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458646	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0234 a0011c0027t0001g0234	1	362	0.0028	27	c.111 others(46): Show c.1113+5444_1113+5445insTTTCTTTCTTTCTTTCTTTCTTTCTT C	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468758	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	362	0.0028	27	c.111 others(46): Show c.1114-9810_1114-9809insTTCTTTCTTTCTTTCTTTCTTTCTTC T	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG00323.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0210 a0002c0002t0001g0213	2	260	0.0077	27	c.-12 others(38): Show c.-1200_-1199insAAAAAAAAAAAAATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	260	0.0077	27	c.-12 others(38): Show c.-1200_-1199insAAAAAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG06807.hp2 HG01255.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	260	0.0077	27	c.-12 others(38): Show c.-1200_-1199insAAAAAAAAAAAAAAAAATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	166969486	T T	TTTAAATG others(20): Show TTTAAATGTGTTTAACACTTTTAACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01175.hp1 others(15): Show HG00558.hp2 HG00642.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01943.hp2 HG01981.hp2 HG02071.hp1 HG02165.hp2 HG02273.hp2 HG03098.hp2 HG04184.hp1 NA18947.hp2 NA18954.hp1 NA18969.hp1 NA18971.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0053 others(15): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0003g0019 a0001c0001t0007g0098	18	144	0.1250	27	c.350 others(46): Show c.350+30836_350+30862dupTGTGTTAAAAGTGTTAAACACATTTA A	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109487	T T	TATATTTA others(20): Show TATATTTATATATTTTATATAAAATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20752.hp2 NA20805.hp2 HG03540.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009	a0001c0001t0003g0047 a0001c0001t0008g0068 a0001c0001t0009g0067 a0001c0001t0003g0047 a0001c0001t0008g0068 a0001c0001t0009g0067	3	144	0.0208	27	c.190 others(46): Show c.190-46977_190-46951dupTATATTTTATATAAAATATATAAATA T	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116585	T T	TGTATATA others(20): Show TGTATATATATACGTATATACTATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01071.hp2 others(30): Show HG00558.hp2 HG00738.hp2 HG01071.hp2 HG01175.hp2 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03491.hp2 HG03540.hp2 NA18906.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp2 NA19070.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0004 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0003 a0001c0005t0003 a0001c0005t0014 a0001c0006t0002 a0001c0006t0003 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0009t0003	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0056 others(30): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0103 a0001c0001t0002g0124 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0076 a0001c0001t0003g0133 a0001c0002t0001g0028 a0001c0003t0003g0035 a0001c0005t0003g0007 a0001c0005t0014g0001 a0001c0006t0002g0006 a0001c0006t0003g0005 a0002c0004t0002g0138 a0002c0004t0003g0043 a0002c0004t0003g0137 a0002c0004t0003g0140 a0002c0004t0005g0013 a0002c0004t0005g0040 a0002c0009t0003g0002	33	144	0.2292	27	c.190 others(46): Show c.190-54049_190-54048insGTATATAGTATATACGTATATATATA C	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14161086	A A	ATATATAT others(20): Show ATATATATCTATATATTTTATATATATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19066.hp1 NA19070.hp1 HG03041.hp1 NA19066.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0063 a0001c0002t0001g0018 a0001c0002t0001g0118 a0001c0001t0001g0063 a0001c0002t0001g0018 a0001c0002t0001g0118	3	224	0.0134	27	c.825 others(46): Show c.825+25590_825+25616dupTATATATATCTATATATCTATATATT T	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	224	0.0045	27	c.69 others(38): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPON2_chr4_1161932_1177583	1173569	C C	CTGGAAAC others(20): Show CTGGAAACAGAGCGGAGGAAGGAGCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	432	0.0023	27	c.-10 others(38): Show c.-1056_-1030dupCGAGCTCCTTCCTCCGCTCTGTTTCCA	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		987		chr4	TogoVar
SPPL3_chr12_120757510_120909358	120830365	T T	TGAGGGGG others(20): Show TGAGGGGGAGGGAGGGGGGAAGAAGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(108): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01361.hp2 HG01884.hp1 HG01943.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19087.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0024 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0002t0005 a0001c0002t0006 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028	a0001c0001t0001g0001 a0001c0001t0001g0221 a0001c0001t0001g0222 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0145 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0308 a0001c0001t0005g0080 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0014g0093 a0001c0001t0024g0146 a0001c0001t0032g0219 a0001c0001t0035g0273 a0001c0001t0036g0249 a0001c0001t0038g0220 a0001c0001t0039g0263 a0001c0001t0040g0277 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0075 a0001c0002t0005g0077 a0001c0002t0005g0079 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0002t0005g0087 a0001c0002t0005g0089 a0001c0002t0005g0090 a0001c0002t0005g0096 a0001c0002t0005g0100 a0001c0002t0005g0102 a0001c0002t0005g0104 a0001c0002t0005g0109 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0147 a0001c0002t0006g0071 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0088 a0001c0002t0006g0092 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0006g0099 a0001c0002t0006g0101 a0001c0002t0006g0105 a0001c0002t0006g0107 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0150 a0001c0002t0026g0108 a0001c0002t0027g0091 a0001c0002t0028g0076	111	320	0.3469	27	c.24- others(44): Show c.24-19480_24-19479insCCCCTTCTTCCCCCCTCCCTCCCCCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830465	G G	GGGGGGAA others(20): Show GGGGGGAAGAAGGGGGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	320	0.0031	27	c.24- others(44): Show c.24-19580_24-19579insTCCCCTTCCCCTCCCCCTTCTTCCCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830476	G G	GGGGGAGG others(20): Show GGGGGAGGGGAAGGGGAGGGGGGAAGAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	320	0.0031	27	c.24- others(44): Show c.24-19591_24-19590insTTCTTCCCCCCTCCCCTTCCCCTCCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	320	0.0031	27	c.24- others(44): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38336439	A A	ATTATATA others(20): Show ATTATATATATGTTATATATATAATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02922.hp1 others(2): Show HG02451.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0036 a0001c0002t0012 a0001c0002t0036	a0001c0002t0012g0004 a0001c0002t0012g0089 a0001c0002t0012g0090 others(1): Show a0001c0002t0012g0004 a0001c0002t0012g0089 a0001c0002t0012g0090 a0001c0002t0036g0091	5	378	0.0132	27	c.424 others(44): Show c.424-3276_424-3250dupAATATTTTATATATATGTTATATATAT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0025 a0001c0001t0025g0025	1	360	0.0028	27	c.17 others(38): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6	1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRING1_chr12_116705171_116743069	116739444	T T	TATTCTAA others(20): Show TATTCTAATGGGGAGGACAAATCATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	362	0.0028	27	c.-15 others(38): Show c.-1571_-1545dupTTTATGATTTGTCCTCCCCATTAGAAT	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding		1376		chr12	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(20): Show GTCTCTCTCCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0102 a0001c0004t0008g0102	1	231	0.0043	27	c.-28 others(46): Show c.-282+3461_-282+3462insCTCTCTCTCTCTCTCTCTCTCTCTCT C	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01517.hp1 HG02004.hp1 others(10): Show HG01433.hp1 HG01517.hp1 HG02004.hp1 HG02602.hp1 HG02735.hp1 HG03654.hp1 HG03688.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18967.hp1 NA19060.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0025 a0001c0001t0062 a0001c0001t0120 a0001c0001t0132 a0001c0001t0136 a0001c0001t0143 a0001c0001t0148 a0001c0002t0124 a0002c0003t0026 a0002c0003t0118	a0001c0001t0001g0193 a0001c0001t0005g0194 a0001c0001t0011g0191 others(10): Show a0001c0001t0001g0193 a0001c0001t0005g0194 a0001c0001t0011g0191 a0001c0001t0025g0200 a0001c0001t0062g0201 a0001c0001t0120g0199 a0001c0001t0132g0226 a0001c0001t0136g0192 a0001c0001t0143g0202 a0001c0001t0148g0198 a0001c0002t0124g0196 a0002c0003t0026g0195 a0002c0003t0118g0197	13	231	0.0563	27	c.-28 others(46): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCTC T	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155740808	T T	TTCATACA others(20): Show TTCATACACCCTGTTCATACACCCCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 NA18940.hp1 HG01496.hp2 HG02922.hp2 NA18940.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0083 a0003c0005t0046 a0001c0001t0002 a0001c0001t0083 a0003c0005t0046	a0001c0001t0002g0216 a0001c0001t0083g0217 a0003c0005t0046g0218 a0001c0001t0002g0216 a0001c0001t0083g0217 a0003c0005t0046g0218	3	231	0.0130	27	c.-28 others(48): Show c.-281-27154_-281-27153insTCATACACCCTGTTCATACACCCC CTG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPTA1_chr1_158605704_158691715	158655286	T T	TAACATTA others(20): Show TAACATTAACTGAGAACATAATTTTAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG01975.hp1 others(37): Show HG00741.hp1 HG01884.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0004 a0006 a0008 others(16): Show a0004 a0006 a0008 a0010 a0013 a0020 a0021 a0022 a0023 a0030 a0035 a0036 a0037 a0038 a0039 a0041 a0063 a0064 a0065	a0004c0015 a0004c0022 a0004c0029 others(24): Show a0004c0015 a0004c0022 a0004c0029 a0004c0032 a0004c0060 a0006c0010 a0006c0035 a0008c0016 a0008c0089 a0010c0014 a0013c0059 a0013c0097 a0020c0056 a0020c0098 a0021c0030 a0022c0021 a0023c0023 a0030c0093 a0035c0058 a0036c0061 a0037c0062 a0038c0034 a0039c0033 a0041c0086 a0063c0100 a0064c0090 a0065c0063	a0004c0015t0007 a0004c0015t0015 a0004c0015t0039 others(29): Show a0004c0015t0007 a0004c0015t0015 a0004c0015t0039 a0004c0022t0015 a0004c0022t0039 a0004c0029t0004 a0004c0032t0014 a0004c0060t0015 a0006c0010t0014 a0006c0035t0014 a0008c0016t0029 a0008c0016t0030 a0008c0089t0030 a0010c0014t0015 a0010c0014t0038 a0013c0059t0061 a0013c0097t0021 a0020c0056t0007 a0020c0098t0004 a0021c0030t0004 a0022c0021t0007 a0023c0023t0007 a0030c0093t0041 a0035c0058t0041 a0036c0061t0015 a0037c0062t0060 a0038c0034t0049 a0039c0033t0050 a0041c0086t0037 a0063c0100t0005 a0064c0090t0020 a0065c0063t0001	a0004c0015t0007g0256 a0004c0015t0015g0332 a0004c0015t0039g0339 others(36): Show a0004c0015t0007g0256 a0004c0015t0015g0332 a0004c0015t0039g0339 a0004c0022t0015g0334 a0004c0022t0039g0340 a0004c0029t0004g0164 a0004c0029t0004g0166 a0004c0032t0014g0171 a0004c0060t0015g0333 a0006c0010t0014g0009 a0006c0010t0014g0170 a0006c0035t0014g0168 a0008c0016t0029g0162 a0008c0016t0029g0163 a0008c0016t0030g0161 a0008c0089t0030g0157 a0010c0014t0015g0330 a0010c0014t0038g0337 a0010c0014t0038g0338 a0013c0059t0061g0331 a0013c0097t0021g0167 a0020c0056t0007g0322 a0020c0098t0004g0165 a0021c0030t0004g0024 a0021c0030t0004g0025 a0022c0021t0007g0222 a0022c0021t0007g0229 a0023c0023t0007g0257 a0023c0023t0007g0258 a0030c0093t0041g0336 a0035c0058t0041g0329 a0036c0061t0015g0328 a0037c0062t0060g0335 a0038c0034t0049g0176 a0039c0033t0050g0169 a0041c0086t0037g0342 a0063c0100t0005g0026 a0064c0090t0020g0119 a0065c0063t0001g0259	40	370	0.1081	27	c.289 others(44): Show c.2899-539_2899-538insTTTAAAATTATGTTCTCAGTTAATGTT	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	20/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTAT others(20): Show ATTATTATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0028 a0003c0003t0028	a0003c0003t0028g0022 a0003c0003t0028g0022	1	370	0.0027	27	c.258 others(46): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAATAATA A	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(20): Show ATTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	370	0.0027	27	c.258 others(46): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAATA A	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19068.hp1 HG02735.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0010 a0001c0001t0002 a0003c0005t0010	a0001c0001t0002g0047 a0003c0005t0010g0106 a0001c0001t0002g0047 a0003c0005t0010g0106	2	370	0.0054	27	c.258 others(46): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54495679	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTATTATACTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00735.hp1 others(11): Show HG00280.hp2 HG00323.hp2 HG00735.hp1 HG01106.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG04115.hp1 NA18946.hp2 NA18968.hp1 NA18978.hp2 NA19002.hp2 NA19012.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 a0001c0002t0001 a0001c0002t0028 a0001c0009t0002 a0001c0009t0007 a0001c0009t0045 a0001c0021t0001	a0001c0001t0001g0087 a0001c0001t0002g0079 a0001c0001t0007g0270 others(11): Show a0001c0001t0001g0087 a0001c0001t0002g0079 a0001c0001t0007g0270 a0001c0001t0022g0118 a0001c0002t0001g0065 a0001c0002t0001g0086 a0001c0002t0001g0275 a0001c0002t0028g0294 a0001c0002t0028g0295 a0001c0009t0002g0285 a0001c0009t0007g0280 a0001c0009t0007g0336 a0001c0009t0045g0298 a0001c0021t0001g0197	14	370	0.0378	27	c.-47 others(46): Show c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTTATTATACTC T	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522704	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0356 a0001c0003t0003g0356	1	370	0.0027	27	c.-47 others(44): Show c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp2 HG02886.hp2 others(2): Show HG01433.hp2 HG02647.hp2 HG02886.hp2 HG02976.hp2 HG03209.hp2	a0002 a0012 a0002 a0012	a0002c0003 a0002c0006 a0012c0025 a0002c0003 a0002c0006 a0012c0025	a0002c0003t0008 a0002c0003t0020 a0002c0006t0008 others(1): Show a0002c0003t0008 a0002c0003t0020 a0002c0006t0008 a0012c0025t0008	a0002c0003t0008g0118 a0002c0003t0008g0121 a0002c0003t0020g0259 others(2): Show a0002c0003t0008g0118 a0002c0003t0008g0121 a0002c0003t0020g0259 a0002c0006t0008g0049 a0012c0025t0008g0120	5	268	0.0187	27	c.660 others(46): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(20): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02486.hp1 HG03225.hp2 others(2): Show HG00438.hp2 HG02486.hp1 HG03225.hp2 NA18945.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0050 a0001c0001t0001 a0001c0001t0015 a0001c0001t0050	a0001c0001t0001g0087 a0001c0001t0001g0179 a0001c0001t0015g0131 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0179 a0001c0001t0015g0131 a0001c0001t0015g0150 a0001c0001t0050g0237	5	246	0.0203	27	c.130 others(46): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAGAA A	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0070 a0002c0003t0001g0070	1	444	0.0023	27	c.61- others(42): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45666819	C C	CCCCTCCT others(20): Show CCCCTCCTCTCCTCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	340	0.0029	27	c.406 others(44): Show c.406-3083_406-3082insTCCCTCCTCTCCTCTCCCCTCCCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414983	T T	TACACACA others(20): Show TACACACACAGTGTTATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	358	0.0028	27	c.233 others(46): Show c.2334-1691_2334-1690insGTACATACTATATAACACTGTGTGTG T	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0249 a0002c0002t0001g0023 a0001c0001t0001g0249 a0002c0002t0001g0023	2	358	0.0056	27	c.187 others(46): Show c.1874+1422_1874+1448dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)