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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01358.hp2 HG01884.hp2 others(19): Show HG00642.hp1 HG01358.hp2 HG01884.hp2 HG01934.hp2 HG02148.hp2 HG02572.hp1 HG02622.hp2 HG02735.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 NA18952.hp2 NA18970.hp2 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0003t0002 a0001c0003t0005 a0001c0008t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0005t0006 a0003c0004t0001	a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0265 others(19): Show a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0265 a0001c0001t0001g0301 a0001c0001t0002g0100 a0001c0001t0002g0234 a0001c0001t0002g0317 a0001c0001t0003g0175 a0001c0001t0003g0322 a0001c0001t0003g0330 a0001c0001t0005g0217 a0001c0001t0006g0098 a0001c0001t0009g0030 a0001c0003t0002g0307 a0001c0003t0005g0224 a0001c0008t0002g0113 a0002c0002t0001g0147 a0002c0002t0001g0152 a0002c0002t0002g0132 a0002c0002t0004g0296 a0002c0005t0006g0085 a0003c0004t0001g0012	22	334	0.0659	19	c.61- others(36): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96576368	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02615.hp2 others(5): Show HG01891.hp1 HG02257.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG03453.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008	a0002c0002t0001g0025 a0002c0002t0001g0147 a0002c0002t0002g0072 others(5): Show a0002c0002t0001g0025 a0002c0002t0001g0147 a0002c0002t0002g0072 a0002c0002t0002g0122 a0002c0002t0002g0132 a0002c0002t0003g0183 a0002c0002t0003g0231 a0002c0002t0008g0333	8	334	0.0240	19	c.61- others(36): Show c.61-17107_61-17106insTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00639.hp1 others(72): Show HG00099.hp1 HG00544.hp2 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01433.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02273.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19060.hp2 NA19066.hp2 NA19072.hp2 NA19079.hp1 NA19085.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0020	75	398	0.1884	19	c.-19 others(30): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF2_chr11_61425124_61451733	61434591	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp2 NA19043.hp1 others(1): Show HG02976.hp1 HG03139.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	4	238	0.0168	19	c.37- others(34): Show c.37-3033_37-3015dupTTTTTTTTTTTTTTTTTTT	SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDHAF2_chr11_61425124_61451733	61434595	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02965.hp1 others(2): Show HG02630.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0016 a0001c0001t0005g0097 a0001c0001t0005g0098	5	238	0.0210	19	c.37- others(34): Show c.37-3015_37-3014insTTTCTTTTTTTTTTTTTTT	SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97135682	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0250 a0001c0002t0005g0250	1	402	0.0025	19	c.174 others(38): Show c.174+17786_174+17787insATATATATATATATATTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01192.hp2 others(10): Show HG00323.hp1 HG00738.hp1 HG01192.hp2 HG01255.hp1 HG01934.hp2 HG02602.hp1 HG02683.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04228.hp2 NA18942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0001g0351 a0001c0001t0002g0066 a0001c0001t0002g0067 others(10): Show a0001c0001t0001g0351 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0113 a0001c0001t0003g0003 a0001c0001t0003g0039 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0056 a0002c0003t0002g0036 a0002c0003t0002g0037	13	402	0.0323	19	c.26 others(30): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70568962	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0099 a0002c0005t0006g0099	1	370	0.0027	19	c.64+ others(34): Show c.64+1961_64+1979dupTTTTTTTTTTTTTTTTTTT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHB_chr1_17013722_17059032	17049647	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0313	1	368	0.0027	19	c.72+ others(34): Show c.72+4282_72+4300dupAAAAAAAAAAAAAAAAAAA	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	1/7			chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	330	0.0030	19	c.-48 others(30): Show c.-4854_-4853insTATATATATATTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	330	0.0030	19	c.-48 others(30): Show c.-4854_-4853insTATATATATTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	330	0.0030	19	c.-48 others(30): Show c.-4854_-4853insTATATATTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0306 a0001c0001t0006g0306	1	330	0.0030	19	c.-48 others(30): Show c.-4854_-4853insTATATTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18952.hp2 NA19004.hp1 others(1): Show HG04204.hp1 NA18952.hp2 NA19004.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0167	4	330	0.0121	19	c.180 others(34): Show c.180-922_180-904dupTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0017 a0008c0015t0017	a0008c0015t0017g0059 a0008c0015t0017g0066 a0008c0015t0017g0059 a0008c0015t0017g0066	2	116	0.0172	19	c.298 others(38): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3346827	A A	ATATATAA others(12): Show ATATATAATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0086 a0012c0086	a0012c0086t0046 a0012c0086t0046	a0012c0086t0046g0012 a0012c0086t0046g0012	1	116	0.0086	19	c.298 others(38): Show c.298+44944_298+44945insATATAATTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3403840	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0065 a0004c0065	a0004c0065t0037 a0004c0065t0037	a0004c0065t0037g0065 a0004c0065t0037g0065	1	116	0.0086	19	c.298 others(40): Show c.298+101957_298+101975dupATATATATATATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3435321	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0029 a0029	a0029c0063 a0029c0063	a0029c0063t0007 a0029c0063t0007	a0029c0063t0007g0106 a0029c0063t0007g0106	1	116	0.0086	19	c.298 others(40): Show c.298+133446_298+133464dupTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3485683	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp2 NA19030.hp1 HG04228.hp1 HG04228.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0093 a0002c0029 a0001c0004 a0001c0093 a0002c0029	a0001c0004t0005 a0001c0093t0006 a0002c0029t0005 a0001c0004t0005 a0001c0093t0006 a0002c0029t0005	a0001c0004t0005g0102 a0001c0093t0006g0053 a0002c0029t0005g0094 a0001c0004t0005g0102 a0001c0093t0006g0053 a0002c0029t0005g0094	3	116	0.0259	19	c.299 others(40): Show c.299-133393_299-133375dupTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582683	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0087 a0001c0087	a0001c0087t0009 a0001c0087t0009	a0001c0087t0009g0054 a0001c0087t0009g0054	1	116	0.0086	19	c.299 others(38): Show c.299-36389_299-36371dupAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03471.hp2 HG02922.hp1 HG03041.hp2 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0026 a0001c0061 a0005c0080 a0001c0026 a0001c0061 a0005c0080	a0001c0026t0002 a0001c0061t0031 a0005c0080t0014 a0001c0026t0002 a0001c0061t0031 a0005c0080t0014	a0001c0026t0002g0086 a0001c0061t0031g0100 a0005c0080t0014g0078 a0001c0026t0002g0086 a0001c0061t0031g0100 a0005c0080t0014g0078	3	116	0.0259	19	c.848 others(38): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03017.hp1 NA19240.hp2 HG02897.hp2 HG03017.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0084 a0002c0101 a0005c0037 a0001c0084 a0002c0101 a0005c0037	a0001c0084t0088 a0002c0101t0005 a0005c0037t0057 a0001c0084t0088 a0002c0101t0005 a0005c0037t0057	a0001c0084t0088g0015 a0002c0101t0005g0076 a0005c0037t0057g0147 a0001c0084t0088g0015 a0002c0101t0005g0076 a0005c0037t0057g0147	3	204	0.0147	19	c.559 others(38): Show c.5594-2538_5594-2537insAAAAAAATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 HG02735.hp1 others(2): Show HG00639.hp2 HG02257.hp2 HG02735.hp1 HG06807.hp2 NA19066.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0082 others(2): Show a0001c0001 a0001c0002 a0001c0082 a0003c0112 a0004c0011	a0001c0001t0001 a0001c0002t0065 a0001c0082t0005 others(2): Show a0001c0001t0001 a0001c0002t0065 a0001c0082t0005 a0003c0112t0019 a0004c0011t0091	a0001c0001t0001g0192 a0001c0002t0065g0177 a0001c0082t0005g0093 others(2): Show a0001c0001t0001g0192 a0001c0002t0065g0177 a0001c0082t0005g0093 a0003c0112t0019g0101 a0004c0011t0091g0104	5	204	0.0245	19	c.158 others(38): Show c.1584-2135_1584-2117dupAAAAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02258.hp1 HG02451.hp2 others(2): Show HG01074.hp1 HG02258.hp1 HG02451.hp2 HG03098.hp2 HG03831.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0001c0025 a0001c0073 others(2): Show a0001c0001 a0001c0025 a0001c0073 a0004c0027 a0012c0077	a0001c0001t0001 a0001c0025t0016 a0001c0073t0038 others(2): Show a0001c0001t0001 a0001c0025t0016 a0001c0073t0038 a0004c0027t0011 a0012c0077t0036	a0001c0001t0001g0128 a0001c0025t0016g0180 a0001c0073t0038g0079 others(2): Show a0001c0001t0001g0128 a0001c0025t0016g0180 a0001c0073t0038g0079 a0004c0027t0011g0035 a0012c0077t0036g0190	5	204	0.0245	19	c.65- others(34): Show c.65-2324_65-2306dupTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73545127	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0008 a0001c0023t0008	a0001c0023t0008g0034 a0001c0023t0008g0034	1	204	0.0049	19	c.65- others(36): Show c.65-37531_65-37530insGTGTGTGTGTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDS_chr12_113387445_113408887	113396605	C C	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCCT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	344	0.0029	19	c.653 others(34): Show c.653+559_653+560insAGGGAAGGAAGGAAGGAAG	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding	6/7			chr12	TogoVar
SEC14L2_chr22_30392018_30430303	30411742	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	420	0.0024	19	c.664 others(36): Show c.664+1064_664+1082dupAAAAAAAAAAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454543	T T	TTATTATA others(12): Show TTATTATATATAATCTATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01361.hp2 others(1): Show HG00099.hp1 HG01109.hp2 HG01361.hp2 HG01433.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0065 a0004c0004t0001g0084 a0004c0004t0001g0007 a0004c0004t0001g0065 a0004c0004t0001g0084	4	454	0.0088	19	c.54 others(30): Show c.5477_*5478insTTATAGATTATATATAATA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4685		chr22	TogoVar
SEC14L6_chr22_30517799_30551741	30528422	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG02886.hp2 HG02896.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0012 a0001c0007t0003 a0001c0007t0012	a0001c0007t0003g0170 a0001c0007t0012g0277 a0001c0007t0003g0170 a0001c0007t0012g0277	2	396	0.0051	19	c.664 others(34): Show c.664+646_664+664dupAAAAAAAAAAAAAAAAAAA	SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding	8/11			chr22	TogoVar
SEC22A_chr3_123196943_123279136	123201865	T T	TGGTTTGA others(12): Show TGGTTTGATTCCGCGGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(58): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp2 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02300.hp1 HG02683.hp1 HG02738.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18962.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19067.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19081.hp1 NA19086.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0001 a0001c0001t0002 a0004c0002t0002 a0001c0001t0001 a0001c0001t0002 a0004c0002t0002	a0001c0001t0001g0111 a0001c0001t0002g0071 a0001c0001t0002g0072 others(58): Show a0001c0001t0001g0111 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0334 a0004c0002t0002g0149	61	340	0.1794	19	c.-14 others(28): Show c.-141_-140insGGTTTGATTCCGCGGGCGC	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding		77		chr3	TogoVar
SEC22A_chr3_123196943_123279136	123260131	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	340	0.0029	19	c.723 others(34): Show c.723+562_723+580dupAAAAAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39062209	C C	CACAGATT others(12): Show CACAGATTGAATATCCCTTA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	366	0.0027	19	c.139 others(36): Show c.1399-357_1399-339dupTAAGGGATATTCAATCTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	12/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39065997	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp2 HG00639.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0320 a0002c0002t0001g0004 a0002c0002t0001g0320	2	366	0.0055	19	c.122 others(38): Show c.1228-1023_1228-1005dupTTTTTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	10/19			chr14	TogoVar
SEC23B_chr20_18502940_18566415	18518582	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0064 a0001c0005t0001g0064	1	410	0.0024	19	c.366 others(36): Show c.366+2851_366+2869dupTTTTTTTTTTTTTTTTTTT	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC24A_chr5_134643785_134732909	134705091	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	318	0.0031	19	c.244 others(36): Show c.2441-236_2441-235insATATATATATATATATATA	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	16/22			chr5	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(12): Show TATATATATATATATAACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	222	0.0045	19	c.116 others(38): Show c.1165+1199_1165+1200insTATATATATATATAACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24C_chr10_73739372_73777161	73757699	G G	GCAAGAGG others(12): Show GCAAGAGGATTGATTGAGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02486.hp1 HG02615.hp2 others(1): Show HG00642.hp1 HG02486.hp1 HG02615.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 others(1): Show a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240	4	322	0.0124	19	c.309 others(36): Show c.309-1923_309-1922insCAAGAGGATTGATTGAGCC	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding	3/22			chr10	TogoVar
SEC24C_chr10_73739372_73777161	73757699	G G	GCGAGAGG others(12): Show GCGAGAGGATTGATTGAGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0012	a0001c0001 a0001c0002 a0001c0012 others(5): Show a0001c0001 a0001c0002 a0001c0012 a0001c0014 a0003c0007 a0005c0008 a0008c0013 a0012c0016	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0012t0001 a0001c0014t0001 a0003c0007t0003 a0005c0008t0002 a0008c0013t0001 a0012c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(113): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0006g0208 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0234 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0008g0062 a0001c0012t0001g0035 a0001c0014t0001g0219 a0003c0007t0003g0231 a0003c0007t0003g0232 a0005c0008t0002g0066 a0008c0013t0001g0211 a0012c0016t0001g0004	148	322	0.4596	19	c.309 others(36): Show c.309-1923_309-1922insCGAGAGGATTGATTGAGCC	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding	3/22			chr10	TogoVar
SEC24D_chr4_118717823_118841126	118785795	T T	TATAATAG others(12): Show TATAATAGCTAGAACCACTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA20905.hp1 HG04115.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0133 a0001c0002t0001g0129 a0001c0002t0001g0133	2	300	0.0067	19	c.104 others(40): Show c.1041+11869_1041+11887dupCAGTGGTTCTAGCTATTAT	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	8/22			chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	19	c.-18 others(30): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEH1L_chr18_12943011_12992531	12981850	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0310 a0001c0001t0005g0310	1	388	0.0026	19	c.762 others(34): Show c.762-659_762-641dupTTTTTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(12): Show CATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18946.hp1 HG00544.hp2 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0034 a0002c0002t0003g0167 a0001c0001t0002g0034 a0002c0002t0003g0167	2	324	0.0062	19	c.115 others(36): Show c.115-2588_115-2587insATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934388	C C	CATATATA others(12): Show CATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	324	0.0031	19	c.115 others(36): Show c.115-2618_115-2617insATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02300.hp1 HG03041.hp2 others(6): Show HG02145.hp2 HG02300.hp1 HG03041.hp2 NA18970.hp1 NA18995.hp1 NA19001.hp1 NA19005.hp1 NA19009.hp2 NA19082.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0010 others(1): Show a0001c0001 a0002c0002 a0007c0010 a0008c0015	a0001c0001t0001 a0002c0002t0003 a0007c0010t0001 others(1): Show a0001c0001t0001 a0002c0002t0003 a0007c0010t0001 a0008c0015t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(6): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0002c0002t0003g0282 a0007c0010t0001g0215 a0008c0015t0001g0151	9	324	0.0278	19	c.58+ others(34): Show c.58+7435_58+7453dupTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(101): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03490.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0003c0004 others(1): Show a0001c0001 a0001c0005 a0003c0004 a0004c0008	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0003c0004t0001 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0004g0086 a0001c0005t0001g0044 a0003c0004t0001g0072 a0003c0004t0001g0091 a0003c0004t0001g0114 a0004c0008t0001g0113	104	438	0.2374	19	c.482 others(34): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0281 a0001c0001t0010g0281	1	334	0.0030	19	c.683 others(36): Show c.683-2088_683-2070dupTTTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01192.hp2 others(30): Show HG00609.hp1 HG00673.hp1 HG01192.hp2 HG01978.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02523.hp2 HG02615.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18967.hp1 NA18968.hp2 NA18979.hp1 NA18980.hp1 NA18990.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19062.hp2 NA19072.hp1 NA19078.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0026 a0001c0001t0002 a0001c0001t0024 a0001c0001t0026	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 others(25): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0024g0009 a0001c0001t0026g0022	33	380	0.0868	19	c.35 others(30): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	276	0.0036	19	c.171 others(38): Show c.1718-2320_1718-2319insAAATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	276	0.0036	19	c.171 others(38): Show c.1718-2320_1718-2319insAAAAAAAAAAATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50272855	A A	ATAATAAT others(12): Show ATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0088 a0002c0002t0003g0088	1	390	0.0026	19	c.665 others(34): Show c.665-443_665-442insTAATAATAATAATAATAAT	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)