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
MFAP3L_chr4_169981602_170031395	170005903	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0158 a0001c0001t0040g0158	1	328	0.0031	c.-26 others(3): Show c.-26A>G	MFAP3L	ENSG00000198948.12	transcript	ENST00000361618.4	protein_coding	2/3	chr4	TogoVar
MFAP3_chr5_154033967_154062450	154049609	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(16): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0007g0002 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0083 a0001c0001t0012g0019 a0001c0001t0013g0007 a0001c0001t0013g0070 a0001c0001t0021g0001 a0001c0001t0022g0003 a0001c0001t0023g0002 a0001c0001t0024g0090 a0001c0001t0025g0001 a0001c0001t0026g0007 a0001c0001t0027g0007 a0001c0001t0028g0003 a0001c0001t0029g0045 a0001c0001t0030g0013 a0001c0001t0031g0002 a0001c0003t0001g0003 a0001c0004t0001g0007 a0001c0006t0001g0001 a0003c0005t0001g0001	253	414	0.6111	c.-11 others(4): Show c.-114A>G	MFAP3	ENSG00000037749.13	transcript	ENST00000522782.6	protein_coding	2/3	chr5	TogoVar
MFF_chr2_227320251_227362833	227325274	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0070 a0001c0001t0024g0070	1	406	0.0025	c.-30 others(4): Show c.-306C>T	MFF	ENSG00000168958.21	transcript	ENST00000304593.14	protein_coding	1/9	chr2	TogoVar
MFF_chr2_227320251_227362833	227325310	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01106.hp1 HG01109.hp2 HG02055.hp1 others(2): Show HG01106.hp1 HG01109.hp2 HG02055.hp1 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0044 a0001c0002t0010g0182 a0001c0002t0010g0183 others(1): Show a0001c0002t0010g0044 a0001c0002t0010g0182 a0001c0002t0010g0183 a0001c0002t0010g0199	5	406	0.0123	c.-27 others(4): Show c.-270C>T	MFF	ENSG00000168958.21	transcript	ENST00000304593.14	protein_coding	1/9	chr2	TogoVar
MFF_chr2_227320251_227362833	227325413	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0084 a0001c0001t0023g0084	1	406	0.0025	c.-16 others(4): Show c.-167C>G	MFF	ENSG00000168958.21	transcript	ENST00000304593.14	protein_coding	1/9	chr2	TogoVar
MFRP_chr11_119333942_119351705	119346601	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(206): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0013 a0001c0020 a0001c0023 a0002c0002 a0002c0007 a0002c0012 a0002c0018 a0002c0019 a0003c0005 a0004c0009 a0004c0014 a0007c0011 a0008c0024 a0009c0022 a0010c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0008t0001 a0001c0013t0003 a0001c0020t0001 a0001c0023t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 a0002c0002t0021 a0002c0002t0022 a0002c0007t0001 a0002c0007t0003 a0002c0012t0001 a0002c0018t0003 a0002c0019t0001 a0003c0005t0001 a0004c0009t0001 a0004c0014t0001 a0007c0011t0001 a0008c0024t0001 a0009c0022t0003 a0010c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0003g0021 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0154 a0001c0001t0003g0169 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0185 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0010g0036 a0001c0001t0019g0156 a0001c0001t0020g0150 a0001c0003t0001g0005 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0003g0210 a0001c0003t0003g0212 a0001c0003t0003g0222 a0001c0004t0001g0043 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0008t0001g0165 a0001c0008t0001g0182 a0001c0008t0001g0183 a0001c0013t0003g0204 a0001c0020t0001g0148 a0001c0023t0001g0201 a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0224 a0002c0002t0003g0127 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0140 a0002c0002t0009g0138 a0002c0002t0009g0139 a0002c0002t0011g0050 a0002c0002t0021g0141 a0002c0002t0022g0144 a0002c0007t0001g0032 a0002c0007t0003g0128 a0002c0007t0003g0137 a0002c0012t0001g0145 a0002c0012t0001g0146 a0002c0018t0003g0142 a0002c0019t0001g0147 a0003c0005t0001g0166 a0003c0005t0001g0167 a0004c0009t0001g0189 a0004c0014t0001g0045 a0007c0011t0001g0125 a0007c0011t0001g0126 a0008c0024t0001g0208 a0009c0022t0003g0164 a0010c0021t0001g0149	209	318	0.6572	c.-88 others(3): Show c.-88C>T	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding	1/15	chr11	TogoVar
MFSD14B_chr9_94369569_94466042	94374606	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0022 a0001c0001t0017g0022	1	350	0.0029	c.-21 others(4): Show c.-214G>C	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding	1/12	chr9	TogoVar
MFSD3_chr8_144504070_144516213	144509144	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	400	0.0025	c.-19 others(4): Show c.-190C>A	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding	1/5	chr8	TogoVar
MFSD4B_chr6_111254339_111285005	111259400	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0174 a0001c0001t0174	a0001c0001t0174g0022 a0001c0001t0174g0022	1	364	0.0028	c.-30 others(4): Show c.-301C>T	MFSD4B	ENSG00000173214.7	transcript	ENST00000671876.2	protein_coding	1/4	chr6	TogoVar
MFSD4B_chr6_111254339_111285005	111259568	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00741.hp2 HG02258.hp2 HG02615.hp1 others(5): Show HG00741.hp2 HG02258.hp2 HG02615.hp1 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0140 a0001c0001t0141 a0001c0001t0143 others(3): Show a0001c0001t0140 a0001c0001t0141 a0001c0001t0143 a0001c0001t0144 a0002c0004t0019 a0002c0004t0142	a0001c0001t0140g0014 a0001c0001t0141g0014 a0001c0001t0143g0014 others(3): Show a0001c0001t0140g0014 a0001c0001t0141g0014 a0001c0001t0143g0014 a0001c0001t0144g0014 a0002c0004t0019g0002 a0002c0004t0142g0002	8	364	0.0220	c.-13 others(4): Show c.-133C>T	MFSD4B	ENSG00000173214.7	transcript	ENST00000671876.2	protein_coding	1/4	chr6	TogoVar
MFSD6_chr2_190403355_190507314	190415332	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0117 a0001c0001t0016g0117	1	344	0.0029	c.-13 others(4): Show c.-135G>A	MFSD6	ENSG00000151690.15	transcript	ENST00000392328.6	protein_coding	2/8	chr2	TogoVar
MFSD9_chr2_102709630_102741888	102736831	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0160 a0001c0002t0036g0160	1	386	0.0026	c.-21 others(3): Show c.-21C>T	MFSD9	ENSG00000135953.11	transcript	ENST00000258436.10	protein_coding	1/6	chr2	TogoVar
MGARP_chr4_139261165_139285225	139280181	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0154 a0001c0001t0009g0154	1	364	0.0028	c.-23 others(3): Show c.-23C>T	MGARP	ENSG00000137463.5	transcript	ENST00000398955.2	protein_coding	1/4	chr4	TogoVar
MGAT2_chr14_49615799_49628481	49620826	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02615.hp1 NA18978.hp2 HG02615.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	2	356	0.0056	c.-44 others(4): Show c.-443C>T	MGAT2	ENSG00000168282.6	transcript	ENST00000305386.4	protein_coding	1/1	chr14	TogoVar
MGAT3_chr22_39452012_39497194	39457308	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 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 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.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 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 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 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0002t0025 a0001c0002t0037 a0001c0003t0002 a0001c0004t0009 a0001c0005t0015 a0001c0007t0008 a0001c0008t0001 a0002c0006t0001 a0003c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(216): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0018 a0001c0001t0002g0047 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0003g0078 a0001c0001t0003g0088 a0001c0001t0003g0105 a0001c0001t0003g0110 a0001c0001t0003g0115 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0003g0153 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0005g0117 a0001c0001t0007g0006 a0001c0001t0007g0048 a0001c0001t0007g0050 a0001c0001t0007g0070 a0001c0001t0007g0083 a0001c0001t0008g0111 a0001c0001t0008g0174 a0001c0001t0008g0208 a0001c0001t0008g0243 a0001c0001t0010g0060 a0001c0001t0010g0079 a0001c0001t0010g0098 a0001c0001t0011g0030 a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0013g0028 a0001c0001t0013g0183 a0001c0001t0014g0084 a0001c0001t0014g0086 a0001c0001t0023g0176 a0001c0001t0024g0106 a0001c0001t0026g0038 a0001c0001t0027g0030 a0001c0001t0028g0203 a0001c0001t0029g0063 a0001c0001t0030g0194 a0001c0001t0031g0171 a0001c0001t0032g0143 a0001c0001t0033g0190 a0001c0001t0034g0133 a0001c0001t0035g0041 a0001c0001t0036g0087 a0001c0001t0038g0051 a0001c0001t0039g0187 a0001c0001t0040g0121 a0001c0002t0002g0007 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0102 a0001c0002t0002g0112 a0001c0002t0002g0116 a0001c0002t0002g0125 a0001c0002t0002g0128 a0001c0002t0002g0136 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0150 a0001c0002t0002g0162 a0001c0002t0002g0180 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0101 a0001c0002t0005g0103 a0001c0002t0005g0113 a0001c0002t0005g0114 a0001c0002t0005g0126 a0001c0002t0005g0209 a0001c0002t0005g0239 a0001c0002t0016g0210 a0001c0002t0025g0100 a0001c0002t0037g0181 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0004t0009g0008 a0001c0004t0009g0172 a0001c0005t0015g0011 a0001c0007t0008g0123 a0001c0008t0001g0002 a0002c0006t0001g0001 a0002c0006t0001g0148 a0003c0009t0003g0075	268	306	0.8758	c.-25 others(4): Show c.-251C>T	MGAT3	ENSG00000128268.12	transcript	ENST00000341184.7	protein_coding	1/2	chr22	TogoVar
MGAT3_chr22_39452012_39497194	39457525	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0216 a0001c0001t0022g0216	1	306	0.0033	c.-34 others(3): Show c.-34C>T	MGAT3	ENSG00000128268.12	transcript	ENST00000341184.7	protein_coding	1/2	chr22	TogoVar
MGAT5B_chr17_76863404_76955393	76868539	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0037 a0001c0050t0037	a0001c0050t0037g0179 a0001c0050t0037g0179	1	278	0.0036	c.-49 others(4): Show c.-491C>T	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	1/18	chr17	TogoVar
MGME1_chr20_17964018_17996122	17969103	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp2 HG02451.hp1 HG03041.hp2 others(3): Show HG01884.hp2 HG02451.hp1 HG03041.hp2 HG03225.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0014 a0001c0002t0017 a0001c0002t0029 others(1): Show a0001c0002t0014 a0001c0002t0017 a0001c0002t0029 a0001c0006t0017	a0001c0002t0014g0266 a0001c0002t0014g0267 a0001c0002t0014g0269 others(3): Show a0001c0002t0014g0266 a0001c0002t0014g0267 a0001c0002t0014g0269 a0001c0002t0017g0268 a0001c0002t0029g0265 a0001c0006t0017g0264	6	402	0.0149	c.-98 others(3): Show c.-98C>T	MGME1	ENSG00000125871.14	transcript	ENST00000377710.10	protein_coding	1/5	chr20	TogoVar
MGST1_chr12_16342645_16369410	16347686	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0269 a0001c0001t0008g0269	1	462	0.0022	c.-47 others(3): Show c.-47C>T	MGST1	ENSG00000008394.13	transcript	ENST00000396210.8	protein_coding	1/4	chr12	TogoVar
MIA2_chr14_39228915_39355694	39234099	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA21309.hp1 NA21309.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0003 a0016c0022t0003	a0016c0022t0003g0122 a0016c0022t0003g0122	1	368	0.0027	c.-16 others(3): Show c.-16G>T	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	1/29	chr14	TogoVar
MICAL2_chr11_12105590_12268785	12162126	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02145.hp1 HG02486.hp1 HG02145.hp1 HG02486.hp1	a0001 a0006 a0001 a0006	a0001c0031 a0006c0032 a0001c0031 a0006c0032	a0001c0031t0005 a0006c0032t0005 a0001c0031t0005 a0006c0032t0005	a0001c0031t0005g0355 a0006c0032t0005g0346 a0001c0031t0005g0355 a0006c0032t0005g0346	2	358	0.0056	c.-30 others(3): Show c.-30C>T	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/28	chr11	TogoVar
MICAL3_chr22_17782649_18029561	18024430	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0273 a0002c0006t0036g0273	1	274	0.0037	c.-22 others(4): Show c.-224G>A	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/32	chr22	TogoVar
MICAL3_chr22_17782649_18029561	18024442	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0273 a0002c0006t0036g0273	1	274	0.0037	c.-23 others(4): Show c.-236G>T	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/32	chr22	TogoVar
MICAL3_chr22_17782649_18029561	18024467	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0273 a0002c0006t0036g0273	1	274	0.0037	c.-26 others(4): Show c.-261C>T	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/32	chr22	TogoVar
MICAL3_chr22_17782649_18029561	18024470	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0273 a0002c0006t0036g0273	1	274	0.0037	c.-26 others(4): Show c.-264G>T	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/32	chr22	TogoVar
MICAL3_chr22_17782649_18029561	18024497	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0273 a0002c0006t0036g0273	1	274	0.0037	c.-29 others(4): Show c.-291C>T	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/32	chr22	TogoVar
MICAL3_chr22_17782649_18029561	18024513	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0036 a0002c0006t0036	a0002c0006t0036g0273 a0002c0006t0036g0273	1	274	0.0037	c.-30 others(4): Show c.-307C>T	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/32	chr22	TogoVar
MICOS10_chr1_19591979_19634820	19597035	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0199 a0001c0002t0054g0199	1	348	0.0029	c.-11 others(3): Show c.-11G>T	MICOS10	ENSG00000173436.15	transcript	ENST00000322753.7	protein_coding	1/4	chr1	TogoVar
MID1IP1_chrX_38796459_38811532	38802910	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01981.hp2 HG01993.hp2 HG02004.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	3	326	0.0092	c.-17 others(5): Show c.-1768G>T	MID1IP1	ENSG00000165175.17	transcript	ENST00000614558.3	protein_coding	2/3	chrX	TogoVar
MID1IP1_chrX_38796459_38811532	38803814	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0009	1	326	0.0031	c.-86 others(4): Show c.-864C>T	MID1IP1	ENSG00000165175.17	transcript	ENST00000614558.3	protein_coding	2/3	chrX	TogoVar
MID1IP1_chrX_38796459_38811532	38804343	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0001 a0001c0001t0019g0001	1	326	0.0031	c.-33 others(4): Show c.-335T>G	MID1IP1	ENSG00000165175.17	transcript	ENST00000614558.3	protein_coding	2/3	chrX	TogoVar
MIDN_chr19_1243583_1264143	1248627	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0002 a0001c0001t0053g0002	2	418	0.0048	c.-44 others(4): Show c.-441C>G	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding	1/9	chr19	TogoVar
MIEF1_chr22_39497290_39523132	39502328	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0070 a0001c0001t0029g0070	1	400	0.0025	c.-44 others(4): Show c.-449G>C	MIEF1	ENSG00000100335.15	transcript	ENST00000325301.7	protein_coding	1/6	chr22	TogoVar
MIEF1_chr22_39497290_39523132	39504339	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0104 a0001c0001t0055g0104	1	400	0.0025	c.-20 others(4): Show c.-203C>T	MIEF1	ENSG00000100335.15	transcript	ENST00000325301.7	protein_coding	2/6	chr22	TogoVar
MIF_chr22_23889383_23900223	23894401	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00642.hp2 HG01943.hp1 HG00642.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	441	0.0045	c.-74 others(3): Show c.-74A>T	MIF	ENSG00000240972.2	transcript	ENST00000215754.8	protein_coding	1/3	chr22	TogoVar
MINAR1_chr15_79427336_79477304	79432446	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0005 a0001c0007 a0003c0005	a0001c0007t0050 a0003c0005t0049 a0001c0007t0050 a0003c0005t0049	a0001c0007t0050g0073 a0003c0005t0049g0074 a0001c0007t0050g0073 a0003c0005t0049g0074	2	390	0.0051	c.-14 others(4): Show c.-145C>T	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/4	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79432460	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0253 a0001c0002t0048g0253	1	390	0.0026	c.-13 others(4): Show c.-131C>G	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/4	chr15	TogoVar
MISP3_chr19_14067786_14080062	14073242	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03710.hp2 HG03834.hp2 HG03710.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0001 a0002c0002t0004g0001	2	378	0.0053	c.-68 others(3): Show c.-68C>G	MISP3	ENSG00000141854.10	transcript	ENST00000587086.3	protein_coding	1/3	chr19	TogoVar
MKI67_chr10_128091659_128131423	128126234	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00735.hp2 HG02257.hp2 HG02965.hp1 HG00735.hp2 HG02257.hp2 HG02965.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0016 a0014c0017t0016	a0014c0017t0016g0035 a0014c0017t0016g0122 a0014c0017t0016g0035 a0014c0017t0016g0122	3	408	0.0074	c.-22 others(4): Show c.-225C>T	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	1/15	chr10	TogoVar
MKI67_chr10_128091659_128131423	128126304	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0046 a0008c0008t0046	a0008c0008t0046g0139 a0008c0008t0046g0139	1	408	0.0025	c.-29 others(4): Show c.-295A>T	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	1/15	chr10	TogoVar
MKI67_chr10_128091659_128131423	128126316	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01099.hp1 HG01109.hp1 HG02559.hp2 others(12): Show HG01099.hp1 HG01109.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG06807.hp2 NA20129.hp2	a0007 a0033 a0038 a0007 a0033 a0038	a0007c0007 a0007c0010 a0033c0049 others(1): Show a0007c0007 a0007c0010 a0033c0049 a0038c0055	a0007c0007t0008 a0007c0010t0008 a0033c0049t0008 others(1): Show a0007c0007t0008 a0007c0010t0008 a0033c0049t0008 a0038c0055t0008	a0007c0007t0008g0017 a0007c0007t0008g0037 a0007c0007t0008g0141 others(3): Show a0007c0007t0008g0017 a0007c0007t0008g0037 a0007c0007t0008g0141 a0007c0010t0008g0012 a0033c0049t0008g0140 a0038c0055t0008g0142	15	408	0.0368	c.-30 others(4): Show c.-307C>T	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	1/15	chr10	TogoVar
MKI67_chr10_128091659_128131423	128126372	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18939.hp2 NA18946.hp2 NA18955.hp2 others(8): Show NA18939.hp2 NA18946.hp2 NA18955.hp2 NA18962.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA19009.hp1 NA19010.hp2 NA19055.hp2	a0004 a0045 a0048 a0004 a0045 a0048	a0004c0005 a0045c0062 a0048c0061 a0004c0005 a0045c0062 a0048c0061	a0004c0005t0010 a0045c0062t0010 a0048c0061t0010 a0004c0005t0010 a0045c0062t0010 a0048c0061t0010	a0004c0005t0010g0008 a0045c0062t0010g0144 a0048c0061t0010g0143 a0004c0005t0010g0008 a0045c0062t0010g0144 a0048c0061t0010g0143	11	408	0.0270	c.-36 others(4): Show c.-363C>G	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	1/15	chr10	TogoVar
MKKS_chr20_10396009_10439222	10420728	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00673.hp2 HG02015.hp1 HG02129.hp1 others(2): Show HG00673.hp2 HG02015.hp1 HG02129.hp1 NA18966.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0039 a0001c0001t0012 a0001c0001t0039	a0001c0001t0012g0119 a0001c0001t0012g0126 a0001c0001t0012g0129 others(2): Show a0001c0001t0012g0119 a0001c0001t0012g0126 a0001c0001t0012g0129 a0001c0001t0012g0186 a0001c0001t0039g0133	5	390	0.0128	c.-61 others(4): Show c.-618C>T	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding	2/6	chr20	TogoVar
MKRN1_chr7_140448033_140484505	140479359	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	c.-15 others(3): Show c.-15G>C	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	chr7	TogoVar
MKRN1_chr7_140448033_140484505	140479361	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	c.-17 others(3): Show c.-17G>T	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	chr7	TogoVar
MKRN1_chr7_140448033_140484505	140479366	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	c.-22 others(3): Show c.-22T>C	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	chr7	TogoVar
MKRN1_chr7_140448033_140484505	140479382	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	c.-38 others(3): Show c.-38G>T	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	chr7	TogoVar
MKRN1_chr7_140448033_140484505	140479398	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	c.-54 others(3): Show c.-54G>T	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	chr7	TogoVar
MKRN1_chr7_140448033_140484505	140479424	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	c.-80 others(3): Show c.-80C>G	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	chr7	TogoVar
MKRN3_chr15_23560674_23573044	23565696	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	420	0.0024	c.-87 others(3): Show c.-87C>T	MKRN3	ENSG00000179455.10	transcript	ENST00000314520.6	protein_coding	1/1	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 7409 hits)