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	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
GFM1_chr3_158639527_158700581	158644624	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp2 HG02055.hp1 HG02622.hp1 others(1): Show HG01891.hp2 HG02055.hp1 HG02622.hp1 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0011 a0005c0006t0011 a0001c0001t0011 a0005c0006t0011	a0001c0001t0011g0227 a0001c0001t0011g0228 a0001c0001t0011g0229 others(1): Show a0001c0001t0011g0227 a0001c0001t0011g0228 a0001c0001t0011g0229 a0005c0006t0011g0298	4	372	0.0108	c.-11 others(3): Show c.-11C>T	GFM1	ENSG00000168827.15	transcript	ENST00000486715.6	protein_coding	1/18	chr3	TogoVar
GFOD2_chr16_67669536_67724316	67719282	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	186	0.0054	c.-20 others(4): Show c.-207C>T	GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding	1/3	chr16	TogoVar
GFPT1_chr2_69314780_69392227	69387186	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0343 a0001c0001t0058g0343	1	366	0.0027	c.-11 others(4): Show c.-115C>T	GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	1/20	chr2	TogoVar
GFPT2_chr5_180295698_180358336	180353263	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0251 a0002c0002t0025g0251	1	412	0.0024	c.-46 others(3): Show c.-46C>T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	1/19	chr5	TogoVar
GFRA1_chr10_116051925_116278206	116272107	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(94): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp1 NA19084.hp2 NA19087.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0002c0003 a0002c0004 a0003c0006 a0003c0015 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(71): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0111 a0001c0001t0114 a0001c0001t0120 a0001c0001t0124 a0001c0001t0125 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0023 a0001c0002t0024 a0001c0002t0026 a0001c0002t0027 a0001c0002t0030 a0001c0002t0033 a0001c0002t0101 a0001c0002t0102 a0001c0002t0112 a0001c0002t0113 a0001c0002t0115 a0001c0002t0116 a0001c0002t0117 a0001c0002t0118 a0001c0002t0119 a0001c0002t0121 a0001c0002t0122 a0001c0002t0123 a0001c0002t0126 a0001c0002t0129 a0001c0010t0109 a0001c0013t0005 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0034 a0002c0003t0104 a0002c0003t0108 a0002c0004t0004 a0002c0004t0006 a0002c0004t0025 a0002c0004t0028 a0002c0004t0031 a0002c0004t0110 a0003c0006t0001 a0003c0006t0023 a0003c0006t0093 a0003c0015t0094 a0006c0011t0004	a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0077 others(94): Show a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0004g0067 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0123 a0001c0001t0005g0088 a0001c0001t0006g0061 a0001c0001t0006g0130 a0001c0001t0025g0119 a0001c0001t0028g0065 a0001c0001t0029g0083 a0001c0001t0029g0121 a0001c0001t0030g0080 a0001c0001t0031g0134 a0001c0001t0032g0064 a0001c0001t0032g0085 a0001c0001t0033g0092 a0001c0001t0095g0120 a0001c0001t0096g0059 a0001c0001t0097g0118 a0001c0001t0098g0043 a0001c0001t0099g0071 a0001c0001t0100g0122 a0001c0001t0103g0104 a0001c0001t0105g0042 a0001c0001t0106g0113 a0001c0001t0107g0109 a0001c0001t0111g0114 a0001c0001t0114g0095 a0001c0001t0120g0096 a0001c0001t0124g0115 a0001c0001t0125g0105 a0001c0001t0127g0132 a0001c0001t0128g0131 a0001c0001t0130g0086 a0001c0001t0131g0093 a0001c0001t0132g0094 a0001c0002t0001g0039 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0112 a0001c0002t0001g0129 a0001c0002t0005g0057 a0001c0002t0005g0106 a0001c0002t0006g0053 a0001c0002t0023g0075 a0001c0002t0024g0073 a0001c0002t0024g0126 a0001c0002t0026g0058 a0001c0002t0026g0110 a0001c0002t0027g0052 a0001c0002t0027g0116 a0001c0002t0030g0081 a0001c0002t0033g0044 a0001c0002t0101g0066 a0001c0002t0102g0054 a0001c0002t0112g0111 a0001c0002t0113g0060 a0001c0002t0115g0056 a0001c0002t0116g0074 a0001c0002t0117g0078 a0001c0002t0118g0055 a0001c0002t0119g0084 a0001c0002t0121g0049 a0001c0002t0122g0107 a0001c0002t0123g0050 a0001c0002t0126g0125 a0001c0002t0129g0051 a0001c0010t0109g0068 a0001c0013t0005g0062 a0002c0003t0001g0133 a0002c0003t0004g0082 a0002c0003t0005g0098 a0002c0003t0006g0103 a0002c0003t0034g0001 a0002c0003t0034g0040 a0002c0003t0104g0069 a0002c0003t0108g0072 a0002c0004t0004g0089 a0002c0004t0006g0070 a0002c0004t0025g0124 a0002c0004t0028g0099 a0002c0004t0031g0087 a0002c0004t0110g0117 a0003c0006t0001g0047 a0003c0006t0023g0048 a0003c0006t0093g0045 a0003c0015t0094g0046 a0006c0011t0004g0127	97	214	0.4533	c.-78 others(3): Show c.-78C>T	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	2/11	chr10	TogoVar
GFUS_chr8_143607618_143622549	143617501	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0047	1	415	0.0024	c.-39 others(3): Show c.-39G>T	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding	1/11	chr8	TogoVar
GFY_chr19_49420388_49433987	49425474	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	450	0.0022	c.-37 others(3): Show c.-37T>C	GFY	ENSG00000261949.7	transcript	ENST00000610896.3	protein_coding	1/4	chr19	TogoVar
GGCT_chr7_30491621_30509829	30504744	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 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 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0007g0190 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0009g0178 a0001c0001t0009g0181 a0001c0001t0010g0067	261	444	0.5878	c.-35 others(3): Show c.-35C>T	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding	1/4	chr7	TogoVar
GGT1_chr22_24598193_24633996	24610006	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG00738.hp2 HG00741.hp2 others(5): Show HG00280.hp1 HG00738.hp2 HG00741.hp2 HG02004.hp1 HG02015.hp2 HG03017.hp2 HG03492.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0006 a0001c0001t0030	a0001c0001t0006g0058 a0001c0001t0006g0156 a0001c0001t0006g0158 others(5): Show a0001c0001t0006g0058 a0001c0001t0006g0156 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0030g0157	8	426	0.0188	c.-31 others(4): Show c.-317C>G	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	3/16	chr22	TogoVar
GGT1_chr22_24598193_24633996	24610328	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0029 a0001c0006t0021g0029	1	426	0.0024	c.-21 others(4): Show c.-211G>A	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	4/16	chr22	TogoVar
GGT1_chr22_24598193_24633996	24610457	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01346.hp2 HG02004.hp1 HG02523.hp1 others(8): Show HG01346.hp2 HG02004.hp1 HG02523.hp1 HG02922.hp2 HG03239.hp2 HG03471.hp1 NA18985.hp1 NA18995.hp2 NA19004.hp1 NA19009.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0030 a0002c0002t0013 others(2): Show a0001c0001t0011 a0001c0001t0030 a0002c0002t0013 a0002c0002t0016 a0002c0002t0022	a0001c0001t0011g0112 a0001c0001t0011g0124 a0001c0001t0011g0165 others(8): Show a0001c0001t0011g0112 a0001c0001t0011g0124 a0001c0001t0011g0165 a0001c0001t0011g0229 a0001c0001t0030g0157 a0002c0002t0013g0351 a0002c0002t0013g0352 a0002c0002t0013g0353 a0002c0002t0016g0332 a0002c0002t0016g0365 a0002c0002t0022g0252	11	426	0.0258	c.-82 others(3): Show c.-82A>G	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	4/16	chr22	TogoVar
GGT1_chr22_24598193_24633996	24610483	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0215 a0001c0001t0027g0215	1	426	0.0024	c.-56 others(3): Show c.-56G>A	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	4/16	chr22	TogoVar
GGT1_chr22_24598193_24633996	24610516	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02451.hp2 HG02647.hp1 HG02922.hp2 others(1): Show HG02451.hp2 HG02647.hp1 HG02922.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0022 a0001c0001t0014 a0002c0002t0022	a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0014g0097 others(1): Show a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0014g0097 a0002c0002t0022g0252	4	426	0.0094	c.-23 others(3): Show c.-23C>T	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	4/16	chr22	TogoVar
GGTLC1_chr20_23980053_23993779	23986617	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0114 a0001c0001t0011g0114	1	436	0.0023	c.-6C others(2): Show c.-6C>T	GGTLC1	ENSG00000149435.12	transcript	ENST00000335694.4	protein_coding	2/6	chr20	TogoVar
GGTLC1_chr20_23980053_23993779	23986629	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0114 a0001c0001t0011g0114	1	436	0.0023	c.-18 others(3): Show c.-18C>T	GGTLC1	ENSG00000149435.12	transcript	ENST00000335694.4	protein_coding	2/6	chr20	TogoVar
GGTLC1_chr20_23980053_23993779	23988764	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02615.hp2 HG03453.hp2 HG02615.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0171 a0001c0001t0008g0172 a0001c0001t0008g0171 a0001c0001t0008g0172	2	436	0.0046	c.-19 others(4): Show c.-190C>G	GGTLC1	ENSG00000149435.12	transcript	ENST00000335694.4	protein_coding	1/6	chr20	TogoVar
GGTLC3_chr22_18511344_18523161	18518069	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	34	0.0294	c.-41 others(3): Show c.-41A>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6	chr22	TogoVar
GGTLC3_chr22_18511344_18523161	18518098	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0011 a0002c0002t0005g0011	1	34	0.0294	c.-70 others(3): Show c.-70C>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6	chr22	TogoVar
GHRL_chr3_10280666_10297947	10290730	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0129 a0003c0003t0017g0129	1	462	0.0022	c.-44 others(3): Show c.-44C>T	GHRL	ENSG00000157017.16	transcript	ENST00000335542.13	protein_coding	2/6	chr3	TogoVar
GHRL_chr3_10280666_10297947	10292863	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0182 a0001c0001t0019g0182	1	462	0.0022	c.-78 others(4): Show c.-787C>T	GHRL	ENSG00000157017.16	transcript	ENST00000335542.13	protein_coding	1/6	chr3	TogoVar
GIGYF1_chr7_100674507_100699250	100688768	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0105 a0002c0002t0045g0105	1	398	0.0025	c.-31 others(4): Show c.-311C>T	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	2/27	chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100688812	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00140.hp2 HG00438.hp2 others(62): Show HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01168.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01884.hp1 HG01981.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03831.hp1 NA18522.hp1 NA18946.hp1 NA18949.hp1 NA18957.hp2 NA18968.hp1 NA18970.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0001c0010 others(4): Show a0001c0001 a0001c0004 a0001c0010 a0001c0018 a0001c0023 a0001c0025 a0008c0020	a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 others(18): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0004t0003 a0001c0010t0003 a0001c0010t0021 a0001c0018t0066 a0001c0023t0003 a0001c0025t0022 a0008c0020t0003	a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0052 others(38): Show a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0052 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0007g0014 a0001c0001t0007g0051 a0001c0001t0007g0174 a0001c0001t0007g0192 a0001c0001t0007g0194 a0001c0001t0007g0196 a0001c0001t0015g0028 a0001c0001t0015g0195 a0001c0001t0021g0175 a0001c0001t0021g0177 a0001c0001t0022g0184 a0001c0001t0022g0197 a0001c0001t0060g0181 a0001c0001t0061g0182 a0001c0001t0062g0183 a0001c0001t0063g0185 a0001c0001t0064g0186 a0001c0001t0065g0171 a0001c0001t0067g0172 a0001c0001t0069g0167 a0001c0001t0070g0166 a0001c0004t0003g0027 a0001c0004t0003g0176 a0001c0004t0003g0190 a0001c0010t0003g0165 a0001c0010t0003g0188 a0001c0010t0021g0187 a0001c0018t0066g0170 a0001c0023t0003g0179 a0001c0025t0022g0198 a0008c0020t0003g0178	65	398	0.1633	c.-35 others(4): Show c.-355C>T	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	2/27	chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100688903	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02257.hp2 HG02486.hp2 HG03225.hp1 HG02257.hp2 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0032 a0001c0008t0068 a0001c0008t0032 a0001c0008t0068	a0001c0008t0032g0063 a0001c0008t0032g0065 a0001c0008t0068g0064 a0001c0008t0032g0063 a0001c0008t0032g0065 a0001c0008t0068g0064	3	398	0.0075	c.-44 others(4): Show c.-446C>T	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	2/27	chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100689216	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0132 a0001c0001t0037g0132	1	398	0.0025	c.-75 others(4): Show c.-759G>A	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	2/27	chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100689372	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0071 a0001c0028t0071	a0001c0028t0071g0062 a0001c0028t0071g0062	1	398	0.0025	c.-91 others(4): Show c.-915C>T	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	2/27	chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100689513	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG02572.hp1 HG01884.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0070 a0001c0001t0069 a0001c0001t0070	a0001c0001t0069g0167 a0001c0001t0070g0166 a0001c0001t0069g0167 a0001c0001t0070g0166	2	398	0.0050	c.-10 others(5): Show c.-1056G>T	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	2/27	chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100694183	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0225 a0001c0001t0083g0225	1	398	0.0025	c.-11 others(5): Show c.-1172C>T	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	1/27	chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100694186	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0225 a0001c0001t0083g0225	1	398	0.0025	c.-11 others(5): Show c.-1175A>G	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	1/27	chr7	TogoVar
GIMAP5_chr7_150732418_150748646	150737591	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp2 HG01952.hp2 HG02071.hp2 others(23): Show HG01884.hp2 HG01952.hp2 HG02071.hp2 HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18979.hp2 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0004 a0001c0001t0006 a0001c0003t0004	a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0003t0004g0007 others(1): Show a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0003t0004g0007 a0001c0003t0004g0046	26	422	0.0616	c.-12 others(4): Show c.-124C>T	GIMAP5	ENSG00000196329.12	transcript	ENST00000358647.5	protein_coding	1/3	chr7	TogoVar
GIMAP7_chr7_150509872_150526073	150519943	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02735.hp2 HG03491.hp1 HG03834.hp1 others(3): Show HG02735.hp2 HG03491.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0016 a0001c0003t0009g0028 a0001c0003t0009g0016 a0001c0003t0009g0028	6	466	0.0129	c.-32 others(3): Show c.-32G>A	GIMAP7	ENSG00000179144.5	transcript	ENST00000313543.5	protein_coding	2/2	chr7	TogoVar
GIPC1_chr19_14472762_14501127	14491712	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0267 a0001c0002t0043g0267	1	444	0.0023	c.-87 others(3): Show c.-87C>T	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/9	chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496101	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01243.hp1 HG01243.hp2 HG01256.hp2 others(1): Show HG01243.hp1 HG01243.hp2 HG01256.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0038 a0001c0001t0015g0389 a0001c0001t0015g0390 a0001c0001t0015g0038 a0001c0001t0015g0389 a0001c0001t0015g0390	4	444	0.0090	c.-23 others(4): Show c.-239C>T	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9	chr19	TogoVar
GIT1_chr17_29568475_29594648	29589608	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0167 a0001c0002t0016g0167	1	400	0.0025	c.-23 others(4): Show c.-230C>T	GIT1	ENSG00000108262.16	transcript	ENST00000225394.8	protein_coding	1/20	chr17	TogoVar
GIT2_chr12_109924804_110001368	109996330	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0225 a0001c0001t0025g0225	1	242	0.0041	c.-10 others(4): Show c.-106C>T	GIT2	ENSG00000139436.22	transcript	ENST00000355312.8	protein_coding	1/20	chr12	TogoVar
GJA3_chr13_20133255_20166052	20161033	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0281 a0001c0001t0040g0281	1	392	0.0026	c.-16 others(4): Show c.-161A>C	GJA3	ENSG00000121743.4	transcript	ENST00000241125.4	protein_coding	1/2	chr13	TogoVar
GJA4_chr1_34787999_34800747	34793024	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0001 a0001c0002t0012g0001	1	416	0.0024	c.-62 others(3): Show c.-62C>T	GJA4	ENSG00000187513.9	transcript	ENST00000342280.5	protein_coding	1/2	chr1	TogoVar
GJA9_chr1_38869069_38886587	38881497	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0044 a0001c0001t0009g0044	1	444	0.0023	c.-16 others(4): Show c.-161T>C	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding	1/2	chr1	TogoVar
GJA9_chr1_38869069_38886587	38881559	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	2	444	0.0045	c.-22 others(4): Show c.-223C>G	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding	1/2	chr1	TogoVar
GJB2_chr13_20182470_20197938	20189596	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01243.hp1 HG02145.hp1 NA18522.hp2 others(1): Show HG01243.hp1 HG02145.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	4	420	0.0095	c.-15 others(3): Show c.-15C>T	GJB2	ENSG00000165474.8	transcript	ENST00000382848.5	protein_coding	2/2	chr13	TogoVar
GJB3_chr1_34776214_34791364	34781708	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0015 a0001c0001t0017g0015	1	444	0.0023	c.-96 others(3): Show c.-96C>T	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding	1/2	chr1	TogoVar
GJB5_chr1_34750047_34763512	34755096	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02055.hp1 HG02280.hp1 HG02486.hp1 others(1): Show HG02055.hp1 HG02280.hp1 HG02486.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	4	468	0.0086	c.-12 others(4): Show c.-124C>T	GJB5	ENSG00000189280.3	transcript	ENST00000338513.1	protein_coding	1/2	chr1	TogoVar
GJB6_chr13_20216962_20237319	20232303	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0369 a0001c0001t0020g0369	1	460	0.0022	c.-52 others(4): Show c.-529C>T	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding	1/5	chr13	TogoVar
GJB7_chr6_87277980_87334278	87322915	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	382	0.0026	c.-77 others(3): Show c.-77G>T	GJB7	ENSG00000164411.12	transcript	ENST00000525899.6	protein_coding	2/3	chr6	TogoVar
GJB7_chr6_87277980_87334278	87329243	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00741.hp1 HG01109.hp1 HG01358.hp2 others(18): Show HG00741.hp1 HG01109.hp1 HG01358.hp2 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp2 HG03471.hp1 HG06807.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0008 a0001c0001 a0003c0003 a0005c0008	a0001c0001t0018 a0001c0001t0019 a0003c0003t0005 others(1): Show a0001c0001t0018 a0001c0001t0019 a0003c0003t0005 a0005c0008t0012	a0001c0001t0018g0232 a0001c0001t0019g0233 a0003c0003t0005g0027 others(15): Show a0001c0001t0018g0232 a0001c0001t0019g0233 a0003c0003t0005g0027 a0003c0003t0005g0050 a0003c0003t0005g0231 a0003c0003t0005g0234 a0003c0003t0005g0235 a0003c0003t0005g0236 a0003c0003t0005g0237 a0003c0003t0005g0238 a0003c0003t0005g0239 a0003c0003t0005g0240 a0003c0003t0005g0241 a0003c0003t0005g0242 a0003c0003t0005g0243 a0003c0003t0005g0244 a0005c0008t0012g0245 a0005c0008t0012g0246	21	382	0.0550	c.-31 others(4): Show c.-311C>T	GJB7	ENSG00000164411.12	transcript	ENST00000525899.6	protein_coding	1/3	chr6	TogoVar
GJD3_chr17_40355652_40369737	40364086	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01361.hp2 HG01516.hp1 HG02738.hp1 others(11): Show HG01361.hp2 HG01516.hp1 HG02738.hp1 HG03669.hp1 HG03710.hp1 HG04204.hp2 NA18612.hp1 NA18988.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19070.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	14	370	0.0378	c.-27 others(4): Show c.-271G>A	GJD3	ENSG00000183153.7	transcript	ENST00000578689.2	protein_coding	1/1	chr17	TogoVar
GJE1_chr6_142127925_142140358	142133042	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02145.hp2 HG02647.hp1 HG02818.hp1 others(9): Show HG02145.hp2 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0005c0006 a0006c0009 a0001c0003 a0005c0006 a0006c0009	a0001c0003t0002 a0001c0003t0004 a0005c0006t0002 others(1): Show a0001c0003t0002 a0001c0003t0004 a0005c0006t0002 a0006c0009t0004	a0001c0003t0002g0001 a0001c0003t0004g0001 a0005c0006t0002g0001 others(1): Show a0001c0003t0002g0001 a0001c0003t0004g0001 a0005c0006t0002g0001 a0006c0009t0004g0001	12	403	0.0298	c.-11 others(4): Show c.-117G>A	GJE1	ENSG00000203733.6	transcript	ENST00000450456.3	protein_coding	1/3	chr6	TogoVar
GK5_chr3_142152527_142230585	142225524	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0012 a0001c0001t0026g0012	2	272	0.0074	c.-69 others(3): Show c.-69C>G	GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	1/16	chr3	TogoVar
GKAP1_chr9_83734425_83822769	83817074	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0318 a0001c0001t0009g0318	1	336	0.0030	c.-12 others(4): Show c.-122C>G	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	2/13	chr9	TogoVar
GLB1L3_chr11_134271379_134324564	134276524	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03098.hp1 NA19043.hp2 NA19240.hp2 others(1): Show HG03098.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0018 a0001c0005 a0007c0018	a0001c0005t0005 a0007c0018t0005 a0001c0005t0005 a0007c0018t0005	a0001c0005t0005g0006 a0001c0005t0005g0085 a0007c0018t0005g0006 a0001c0005t0005g0006 a0001c0005t0005g0085 a0007c0018t0005g0006	4	422	0.0095	c.-21 others(4): Show c.-217C>T	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	1/20	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134276651	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0329 a0001c0001t0012g0329	1	422	0.0024	c.-90 others(3): Show c.-90G>T	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	1/20	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 7409 hits)