Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ 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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AIMP2_chr7_6004272_6028834	6017913	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0055 a0005c0005t0001g0055	1	442	0.0023	c.442 others(3): Show c.442G>A	p.Val others(6): Show p.Val148Ile	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	3/4	534/1198	442/963	148/320	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6017967	C C	A A	missense_variant missense_variant	MODERATE	HG01496.hp1 HG02055.hp2 HG02559.hp2 others(8): Show HG01496.hp1 HG02055.hp2 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0044 a0002c0003t0001g0045 others(6): Show a0002c0003t0001g0008 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051	11	442	0.0249	c.496 others(3): Show c.496C>A	p.Leu others(6): Show p.Leu166Ile	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	3/4	588/1198	496/963	166/320	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6023589	G G	C C	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0210 a0006c0006t0001g0210	1	442	0.0023	c.861 others(3): Show c.861G>C	p.Gln others(6): Show p.Gln287His	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	4/4	953/1198	861/963	287/320	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6425489	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02145.hp1 HG02572.hp2 others(2): Show HG01884.hp2 HG02145.hp1 HG02572.hp2 HG02818.hp2 HG03486.hp1	a0003 a0008 a0003 a0008	a0003c0005 a0008c0016 a0003c0005 a0008c0016	a0003c0005t0014 a0003c0005t0018 a0003c0005t0033 others(1): Show a0003c0005t0014 a0003c0005t0018 a0003c0005t0033 a0008c0016t0018	a0003c0005t0014g0211 a0003c0005t0018g0209 a0003c0005t0033g0212 others(2): Show a0003c0005t0014g0211 a0003c0005t0018g0209 a0003c0005t0033g0212 a0003c0005t0033g0214 a0008c0016t0018g0199	5	454	0.0110	c.112 others(4): Show c.1126C>T	p.Pro others(6): Show p.Pro376Ser	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	6/6	1143/2894	1126/1155	376/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6425678	C C	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02055.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0004c0013 a0005c0018 a0004c0006 a0004c0013 a0005c0018	a0004c0006t0037 a0004c0013t0069 a0005c0018t0064 a0004c0006t0037 a0004c0013t0069 a0005c0018t0064	a0004c0006t0037g0021 a0004c0013t0069g0312 a0005c0018t0064g0049 a0004c0006t0037g0021 a0004c0013t0069g0312 a0005c0018t0064g0049	4	454	0.0088	c.937 others(3): Show c.937G>T	p.Ala others(6): Show p.Ala313Ser	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	6/6	954/2894	937/1155	313/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6426940	C C	T T	missense_variant missense_variant	MODERATE	NA18941.hp1 NA18941.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0009 a0009c0012t0009	a0009c0012t0009g0282 a0009c0012t0009g0282	1	454	0.0022	c.583 others(3): Show c.583G>A	p.Glu others(6): Show p.Glu195Lys	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	4/6	600/2894	583/1155	195/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6426953	C C	A A	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18965.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0080 a0010c0009t0001g0080	1	454	0.0022	c.570 others(3): Show c.570G>T	p.Lys others(6): Show p.Lys190Asn	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	4/6	587/2894	570/1155	190/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6428442	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02145.hp1 HG02572.hp2 others(1): Show HG01884.hp2 HG02145.hp1 HG02572.hp2 HG03486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0014 a0003c0005t0018 a0003c0005t0033 a0003c0005t0014 a0003c0005t0018 a0003c0005t0033	a0003c0005t0014g0211 a0003c0005t0018g0209 a0003c0005t0033g0212 others(1): Show a0003c0005t0014g0211 a0003c0005t0018g0209 a0003c0005t0033g0212 a0003c0005t0033g0214	4	454	0.0088	c.341 others(3): Show c.341C>T	p.Thr others(6): Show p.Thr114Ile	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	3/6	358/2894	341/1155	114/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6428445	G G	T T	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0020 a0007c0011t0020	a0007c0011t0020g0250 a0007c0011t0020g0250	1	454	0.0022	c.338 others(3): Show c.338C>A	p.Pro others(6): Show p.Pro113His	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	3/6	355/2894	338/1155	113/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6428478	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0015 a0006c0014t0015	a0006c0014t0015g0346 a0006c0014t0015g0346	1	454	0.0022	c.305 others(3): Show c.305G>A	p.Arg others(6): Show p.Arg102Gln	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	3/6	322/2894	305/1155	102/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6433927	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(115): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03490.hp2 HG03579.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18976.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0002c0007 a0002c0008 others(1): Show a0002c0003 a0002c0007 a0002c0008 a0010c0009	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(13): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0012 a0002c0003t0014 a0002c0003t0019 a0002c0003t0023 a0002c0003t0027 a0002c0003t0032 a0002c0003t0059 a0002c0003t0060 a0002c0003t0061 a0002c0003t0070 a0002c0007t0004 a0002c0008t0005 a0010c0009t0001	a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004 others(79): Show a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0074 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0086 a0002c0003t0001g0088 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0124 a0002c0003t0001g0126 a0002c0003t0001g0129 a0002c0003t0003g0070 a0002c0003t0003g0075 a0002c0003t0003g0087 a0002c0003t0003g0089 a0002c0003t0003g0090 a0002c0003t0003g0097 a0002c0003t0003g0100 a0002c0003t0003g0105 a0002c0003t0003g0111 a0002c0003t0003g0122 a0002c0003t0004g0079 a0002c0003t0012g0073 a0002c0003t0014g0013 a0002c0003t0014g0119 a0002c0003t0019g0096 a0002c0003t0019g0110 a0002c0003t0019g0123 a0002c0003t0019g0125 a0002c0003t0023g0085 a0002c0003t0027g0054 a0002c0003t0027g0095 a0002c0003t0027g0109 a0002c0003t0032g0028 a0002c0003t0059g0067 a0002c0003t0060g0098 a0002c0003t0061g0076 a0002c0003t0070g0099 a0002c0007t0004g0194 a0002c0008t0005g0092 a0010c0009t0001g0080	118	454	0.2599	c.268 others(3): Show c.268G>C	p.Asp others(5): Show p.Asp90His	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/6	285/2894	268/1155	90/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6434055	G G	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0064 a0005c0018t0064	a0005c0018t0064g0049 a0005c0018t0064g0049	1	454	0.0022	c.140 others(3): Show c.140C>G	p.Thr others(5): Show p.Thr47Arg	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/6	157/2894	140/1155	47/384	chr17	TogoVar
AIP_chr11_67478026_67496103	67490045	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0011 a0003c0006t0001g0011	1	342	0.0029	c.476 others(3): Show c.476G>A	p.Ser others(6): Show p.Ser159Asn	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	4/6	609/1236	476/993	159/330	chr11	TogoVar
AIP_chr11_67478026_67496103	67490352	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 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 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0001 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0040 a0001c0003t0001g0051 a0001c0003t0001g0054 a0001c0007t0001g0033 a0004c0008t0001g0001	284	342	0.8304	c.682 others(3): Show c.682C>A	p.Gln others(6): Show p.Gln228Lys	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	5/6	815/1236	682/993	228/330	chr11	TogoVar
AIP_chr11_67478026_67496103	67490362	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	1	342	0.0029	c.692 others(3): Show c.692C>T	p.Thr others(6): Show p.Thr231Met	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	5/6	825/1236	692/993	231/330	chr11	TogoVar
AIP_chr11_67478026_67496103	67490896	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	1	342	0.0029	c.896 others(3): Show c.896C>T	p.Ala others(6): Show p.Ala299Val	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	6/6	1029/1236	896/993	299/330	chr11	TogoVar
AIRE_chr21_44280876_44303648	44287041	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0001 a0005c0033t0001	a0005c0033t0001g0008 a0005c0033t0001g0008	1	426	0.0024	c.371 others(3): Show c.371C>T	p.Pro others(6): Show p.Pro124Leu	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	3/14	502/2690	371/1638	124/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44288354	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 NA21309.hp1 HG01167.hp1 NA21309.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0002 a0004c0027t0002	a0004c0027t0002g0061 a0004c0027t0002g0061	2	426	0.0047	c.548 others(3): Show c.548C>A	p.Thr others(6): Show p.Thr183Asn	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	5/14	679/2690	548/1638	183/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44289759	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02145.hp1 HG03486.hp2 others(3): Show HG02055.hp1 HG02145.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA19043.hp1	a0003 a0003	a0003c0020 a0003c0031 a0003c0046 a0003c0020 a0003c0031 a0003c0046	a0003c0020t0001 a0003c0020t0005 a0003c0020t0009 others(2): Show a0003c0020t0001 a0003c0020t0005 a0003c0020t0009 a0003c0031t0005 a0003c0046t0004	a0003c0020t0001g0215 a0003c0020t0001g0231 a0003c0020t0005g0235 others(3): Show a0003c0020t0001g0215 a0003c0020t0001g0231 a0003c0020t0005g0235 a0003c0020t0009g0234 a0003c0031t0005g0227 a0003c0046t0004g0240	6	426	0.0141	c.755 others(3): Show c.755C>T	p.Pro others(6): Show p.Pro252Leu	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	6/14	886/2690	755/1638	252/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44290023	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(118): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA21309.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0006	a0002c0002 a0002c0007 a0002c0008 others(15): Show a0002c0002 a0002c0007 a0002c0008 a0002c0011 a0002c0015 a0002c0017 a0002c0021 a0002c0023 a0002c0026 a0002c0032 a0002c0044 a0002c0050 a0003c0020 a0003c0031 a0003c0046 a0004c0027 a0005c0033 a0006c0045	a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 others(27): Show a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0010 a0002c0008t0001 a0002c0008t0002 a0002c0011t0001 a0002c0015t0001 a0002c0015t0002 a0002c0015t0003 a0002c0017t0001 a0002c0021t0005 a0002c0021t0006 a0002c0021t0011 a0002c0023t0001 a0002c0026t0001 a0002c0026t0006 a0002c0032t0001 a0002c0044t0001 a0002c0050t0001 a0003c0020t0001 a0003c0020t0005 a0003c0020t0009 a0003c0031t0005 a0003c0046t0004 a0004c0027t0002 a0005c0033t0001 a0006c0045t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0011 others(79): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0043 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0220 a0002c0002t0001g0224 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0002g0058 a0002c0007t0001g0034 a0002c0007t0001g0077 a0002c0007t0001g0101 a0002c0007t0001g0104 a0002c0007t0001g0132 a0002c0007t0002g0033 a0002c0007t0002g0086 a0002c0007t0003g0042 a0002c0007t0003g0099 a0002c0007t0003g0102 a0002c0007t0003g0103 a0002c0007t0010g0241 a0002c0008t0001g0002 a0002c0008t0001g0012 a0002c0008t0001g0035 a0002c0008t0001g0036 a0002c0008t0001g0097 a0002c0008t0001g0131 a0002c0008t0001g0134 a0002c0008t0001g0135 a0002c0008t0002g0133 a0002c0011t0001g0026 a0002c0011t0001g0056 a0002c0011t0001g0075 a0002c0011t0001g0201 a0002c0011t0001g0205 a0002c0011t0001g0214 a0002c0011t0001g0233 a0002c0015t0001g0011 a0002c0015t0001g0071 a0002c0015t0001g0076 a0002c0015t0001g0212 a0002c0015t0002g0222 a0002c0015t0003g0069 a0002c0015t0003g0211 a0002c0017t0001g0017 a0002c0017t0001g0027 a0002c0017t0001g0100 a0002c0017t0001g0127 a0002c0021t0005g0084 a0002c0021t0005g0136 a0002c0021t0006g0037 a0002c0021t0011g0065 a0002c0023t0001g0027 a0002c0023t0001g0137 a0002c0023t0001g0139 a0002c0026t0001g0213 a0002c0026t0006g0037 a0002c0032t0001g0002 a0002c0044t0001g0087 a0002c0050t0001g0085 a0003c0020t0001g0215 a0003c0020t0001g0231 a0003c0020t0005g0235 a0003c0020t0009g0234 a0003c0031t0005g0227 a0003c0046t0004g0240 a0004c0027t0002g0061 a0005c0033t0001g0008 a0006c0045t0001g0098	121	426	0.2840	c.834 others(3): Show c.834C>G	p.Ser others(6): Show p.Ser278Arg	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	7/14	965/2690	834/1638	278/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293015	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0001 a0006c0045t0001	a0006c0045t0001g0098 a0006c0045t0001g0098	1	426	0.0024	c.111 others(4): Show c.1118C>T	p.Ala others(6): Show p.Ala373Val	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	10/14	1249/2690	1118/1638	373/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293096	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0039 a0007c0039	a0007c0039t0008 a0007c0039t0008	a0007c0039t0008g0192 a0007c0039t0008g0192	1	426	0.0024	c.119 others(4): Show c.1199C>T	p.Pro others(6): Show p.Pro400Leu	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	10/14	1330/2690	1199/1638	400/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44297722	T T	C C	missense_variant missense_variant	MODERATE	HG02155.hp2 HG02155.hp2	a0009 a0009	a0009c0047 a0009c0047	a0009c0047t0013 a0009c0047t0013	a0009c0047t0013g0120 a0009c0047t0013g0120	1	426	0.0024	c.163 others(4): Show c.1633T>C	p.Ser others(6): Show p.Ser545Pro	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	14/14	1764/2690	1633/1638	545/545	chr21	TogoVar
AJAP1_chr1_4649609_4797534	4711928	C C	G G	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0005 a0006c0021t0005	a0006c0021t0005g0148 a0006c0021t0005g0148	1	334	0.0030	c.58C others(2): Show c.58C>G	p.Pro others(5): Show p.Pro20Ala	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	875/12102	58/1236	20/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4711974	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp1 HG06807.hp2 HG03195.hp1 HG06807.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0124 a0005c0010t0141 a0005c0010t0124 a0005c0010t0141	a0005c0010t0124g0133 a0005c0010t0141g0028 a0005c0010t0124g0133 a0005c0010t0141g0028	2	334	0.0060	c.104 others(3): Show c.104C>T	p.Ala others(5): Show p.Ala35Val	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	921/12102	104/1236	35/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4712402	A A	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02280.hp2 HG02717.hp2 others(4): Show HG01243.hp1 HG02280.hp2 HG02717.hp2 HG02818.hp1 HG02922.hp1 NA19030.hp2 NA20300.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0015 a0004c0006t0073 a0004c0006t0074 others(3): Show a0004c0006t0015 a0004c0006t0073 a0004c0006t0074 a0004c0006t0076 a0004c0006t0149 a0004c0006t0175	a0004c0006t0015g0108 a0004c0006t0015g0204 a0004c0006t0073g0236 others(4): Show a0004c0006t0015g0108 a0004c0006t0015g0204 a0004c0006t0073g0236 a0004c0006t0074g0237 a0004c0006t0076g0185 a0004c0006t0149g0328 a0004c0006t0175g0007	7	334	0.0210	c.532 others(3): Show c.532A>T	p.Thr others(6): Show p.Thr178Ser	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	1349/12102	532/1236	178/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4712475	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG02148.hp2 NA18946.hp1 others(8): Show HG00408.hp2 HG02148.hp2 NA18946.hp1 NA18962.hp1 NA18969.hp2 NA18985.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19081.hp1 NA19088.hp1	a0003 a0007 a0003 a0007	a0003c0007 a0003c0009 a0003c0018 others(1): Show a0003c0007 a0003c0009 a0003c0018 a0007c0013	a0003c0007t0003 a0003c0007t0014 a0003c0007t0038 others(5): Show a0003c0007t0003 a0003c0007t0014 a0003c0007t0038 a0003c0007t0130 a0003c0009t0007 a0003c0009t0126 a0003c0018t0007 a0007c0013t0040	a0003c0007t0003g0223 a0003c0007t0014g0095 a0003c0007t0014g0096 others(8): Show a0003c0007t0003g0223 a0003c0007t0014g0095 a0003c0007t0014g0096 a0003c0007t0014g0102 a0003c0007t0014g0121 a0003c0007t0038g0127 a0003c0007t0130g0094 a0003c0009t0007g0119 a0003c0009t0126g0241 a0003c0018t0007g0091 a0007c0013t0040g0132	11	334	0.0329	c.605 others(3): Show c.605G>A	p.Gly others(6): Show p.Gly202Asp	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	1422/12102	605/1236	202/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4712657	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(104): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18985.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0007 a0009 others(1): Show a0002 a0007 a0009 a0010	a0002c0003 a0002c0004 a0002c0011 others(6): Show a0002c0003 a0002c0004 a0002c0011 a0002c0012 a0002c0016 a0002c0019 a0007c0013 a0009c0020 a0010c0014	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(81): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0016 a0002c0003t0017 a0002c0003t0019 a0002c0003t0020 a0002c0003t0022 a0002c0003t0023 a0002c0003t0025 a0002c0003t0026 a0002c0003t0028 a0002c0003t0029 a0002c0003t0041 a0002c0003t0043 a0002c0003t0045 a0002c0003t0050 a0002c0003t0053 a0002c0003t0062 a0002c0003t0063 a0002c0003t0065 a0002c0003t0069 a0002c0003t0072 a0002c0003t0082 a0002c0003t0084 a0002c0003t0097 a0002c0003t0099 a0002c0003t0104 a0002c0003t0107 a0002c0003t0116 a0002c0003t0128 a0002c0003t0140 a0002c0003t0142 a0002c0003t0145 a0002c0003t0152 a0002c0003t0162 a0002c0003t0166 a0002c0003t0167 a0002c0003t0172 a0002c0003t0180 a0002c0003t0181 a0002c0003t0183 a0002c0003t0187 a0002c0003t0197 a0002c0004t0001 a0002c0004t0002 a0002c0004t0006 a0002c0004t0007 a0002c0004t0008 a0002c0004t0010 a0002c0004t0018 a0002c0004t0021 a0002c0004t0028 a0002c0004t0031 a0002c0004t0036 a0002c0004t0040 a0002c0004t0042 a0002c0004t0046 a0002c0004t0048 a0002c0004t0049 a0002c0004t0051 a0002c0004t0059 a0002c0004t0075 a0002c0004t0102 a0002c0004t0105 a0002c0004t0106 a0002c0004t0131 a0002c0004t0132 a0002c0004t0134 a0002c0004t0146 a0002c0004t0157 a0002c0004t0165 a0002c0004t0174 a0002c0004t0182 a0002c0004t0194 a0002c0004t0198 a0002c0011t0070 a0002c0012t0002 a0002c0016t0002 a0002c0019t0022 a0007c0013t0040 a0009c0020t0067 a0010c0014t0017	a0002c0003t0001g0092 a0002c0003t0002g0298 a0002c0003t0003g0287 others(103): Show a0002c0003t0001g0092 a0002c0003t0002g0298 a0002c0003t0003g0287 a0002c0003t0005g0172 a0002c0003t0016g0295 a0002c0003t0017g0154 a0002c0003t0019g0077 a0002c0003t0019g0078 a0002c0003t0020g0070 a0002c0003t0020g0071 a0002c0003t0020g0074 a0002c0003t0022g0053 a0002c0003t0022g0067 a0002c0003t0023g0019 a0002c0003t0025g0160 a0002c0003t0025g0224 a0002c0003t0026g0170 a0002c0003t0028g0183 a0002c0003t0029g0189 a0002c0003t0029g0190 a0002c0003t0041g0130 a0002c0003t0043g0049 a0002c0003t0043g0050 a0002c0003t0045g0179 a0002c0003t0050g0040 a0002c0003t0050g0041 a0002c0003t0053g0010 a0002c0003t0062g0323 a0002c0003t0063g0212 a0002c0003t0065g0229 a0002c0003t0069g0177 a0002c0003t0072g0188 a0002c0003t0082g0146 a0002c0003t0084g0307 a0002c0003t0097g0301 a0002c0003t0099g0291 a0002c0003t0104g0280 a0002c0003t0107g0311 a0002c0003t0116g0075 a0002c0003t0128g0079 a0002c0003t0140g0031 a0002c0003t0142g0062 a0002c0003t0145g0034 a0002c0003t0152g0047 a0002c0003t0162g0061 a0002c0003t0166g0054 a0002c0003t0167g0051 a0002c0003t0172g0044 a0002c0003t0180g0182 a0002c0003t0181g0181 a0002c0003t0183g0275 a0002c0003t0187g0252 a0002c0003t0197g0268 a0002c0004t0001g0084 a0002c0004t0001g0124 a0002c0004t0001g0243 a0002c0004t0001g0313 a0002c0004t0002g0193 a0002c0004t0002g0220 a0002c0004t0002g0293 a0002c0004t0002g0294 a0002c0004t0006g0003 a0002c0004t0006g0024 a0002c0004t0006g0105 a0002c0004t0007g0138 a0002c0004t0008g0191 a0002c0004t0008g0231 a0002c0004t0010g0151 a0002c0004t0010g0208 a0002c0004t0018g0209 a0002c0004t0018g0315 a0002c0004t0021g0048 a0002c0004t0028g0163 a0002c0004t0031g0282 a0002c0004t0031g0283 a0002c0004t0036g0192 a0002c0004t0036g0219 a0002c0004t0040g0100 a0002c0004t0042g0073 a0002c0004t0042g0112 a0002c0004t0046g0277 a0002c0004t0048g0264 a0002c0004t0049g0266 a0002c0004t0051g0082 a0002c0004t0059g0216 a0002c0004t0075g0302 a0002c0004t0102g0303 a0002c0004t0105g0166 a0002c0004t0106g0233 a0002c0004t0131g0104 a0002c0004t0132g0089 a0002c0004t0134g0083 a0002c0004t0146g0042 a0002c0004t0157g0069 a0002c0004t0165g0065 a0002c0004t0174g0052 a0002c0004t0182g0178 a0002c0004t0194g0265 a0002c0004t0198g0274 a0002c0011t0070g0308 a0002c0012t0002g0232 a0002c0016t0002g0221 a0002c0019t0022g0046 a0007c0013t0040g0132 a0009c0020t0067g0162 a0010c0014t0017g0218	107	334	0.3204	c.787 others(3): Show c.787G>A	p.Gly others(6): Show p.Gly263Arg	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	1604/12102	787/1236	263/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4772297	A A	C C	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0033 a0008c0015t0033	a0008c0015t0033g0150 a0008c0015t0033g0150	1	334	0.0030	c.935 others(3): Show c.935A>C	p.Asn others(6): Show p.Asn312Thr	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	4/6	1752/12102	935/1236	312/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4772489	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0067 a0009c0020t0067	a0009c0020t0067g0162 a0009c0020t0067g0162	1	334	0.0030	c.112 others(4): Show c.1127C>T	p.Thr others(6): Show p.Thr376Met	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	4/6	1944/12102	1127/1236	376/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4772492	C C	T T	missense_variant missense_variant	MODERATE	NA18999.hp1 NA18999.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0017 a0010c0014t0017	a0010c0014t0017g0218 a0010c0014t0017g0218	1	334	0.0030	c.113 others(4): Show c.1130C>T	p.Thr others(6): Show p.Thr377Met	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	4/6	1947/12102	1130/1236	377/411	chr1	TogoVar
AJM1_chr9_136837478_136853801	136844785	C C	T T	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0001 a0009c0020t0001g0001	1	364	0.0028	c.371 others(3): Show c.371C>T	p.Ala others(6): Show p.Ala124Val	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	626/4642	371/2931	124/976	chr9	TogoVar
AJM1_chr9_136837478_136853801	136844934	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp2 HG03486.hp2 HG01109.hp2 HG03486.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0001 a0005c0012t0001g0001	2	364	0.0055	c.520 others(3): Show c.520C>T	p.Pro others(6): Show p.Pro174Ser	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	775/4642	520/2931	174/976	chr9	TogoVar
AJM1_chr9_136837478_136853801	136845192	G G	C C	missense_variant missense_variant	MODERATE	NA19059.hp1 NA19059.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0001 a0008c0018t0001g0001	1	364	0.0028	c.778 others(3): Show c.778G>C	p.Gly others(6): Show p.Gly260Arg	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	1033/4642	778/2931	260/976	chr9	TogoVar
AJM1_chr9_136837478_136853801	136845353	G G	C C	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0001 a0006c0014t0001g0001	1	364	0.0028	c.939 others(3): Show c.939G>C	p.Glu others(6): Show p.Glu313Asp	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	1194/4642	939/2931	313/976	chr9	TogoVar
AJM1_chr9_136837478_136853801	136845394	A A	T T	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18949.hp1 NA18967.hp1 others(1): Show NA18944.hp2 NA18949.hp1 NA18967.hp1 NA18997.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	4	364	0.0110	c.980 others(3): Show c.980A>T	p.Tyr others(6): Show p.Tyr327Phe	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	1235/4642	980/2931	327/976	chr9	TogoVar
AJM1_chr9_136837478_136853801	136845553	G G	A A	missense_variant missense_variant	MODERATE	NA19007.hp2 NA19007.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0001 a0007c0015t0001g0001	1	364	0.0028	c.113 others(4): Show c.1139G>A	p.Gly others(6): Show p.Gly380Glu	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	1394/4642	1139/2931	380/976	chr9	TogoVar
AJM1_chr9_136837478_136853801	136845558	T T	C C	missense_variant missense_variant	MODERATE	HG02976.hp2 NA20905.hp2 HG02976.hp2 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	2	364	0.0055	c.114 others(4): Show c.1144T>C	p.Tyr others(6): Show p.Tyr382His	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	1399/4642	1144/2931	382/976	chr9	TogoVar
AJM1_chr9_136837478_136853801	136846939	C C	T T	missense_variant missense_variant	MODERATE	NA18962.hp1 NA18999.hp2 NA18962.hp1 NA18999.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	2	364	0.0055	c.252 others(4): Show c.2525C>T	p.Pro others(6): Show p.Pro842Leu	AJM1	ENSG00000232434.3	transcript	ENST00000436881.3	protein_coding	3/3	2780/4642	2525/2931	842/976	chr9	TogoVar
AJUBA_chr14_22966177_22987551	22981339	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG00280.hp1 HG00323.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0017 a0003c0004t0002g0017	2	334	0.0060	c.928 others(3): Show c.928G>C	p.Glu others(6): Show p.Glu310Gln	AJUBA	ENSG00000129474.17	transcript	ENST00000262713.7	protein_coding	1/8	1213/4168	928/1617	310/538	chr14	TogoVar
AJUBA_chr14_22966177_22987551	22981974	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0063 a0004c0006t0006g0063	1	334	0.0030	c.293 others(3): Show c.293C>T	p.Ala others(5): Show p.Ala98Val	AJUBA	ENSG00000129474.17	transcript	ENST00000262713.7	protein_coding	1/8	578/4168	293/1617	98/538	chr14	TogoVar
AJUBA_chr14_22966177_22987551	22982136	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0028 a0002c0005t0005g0028	2	334	0.0060	c.131 others(3): Show c.131C>T	p.Pro others(5): Show p.Pro44Leu	AJUBA	ENSG00000129474.17	transcript	ENST00000262713.7	protein_coding	1/8	416/4168	131/1617	44/538	chr14	TogoVar
AK1_chr9_127861486_127882675	127868353	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02109.hp2 HG02735.hp2 others(2): Show HG00558.hp1 HG02109.hp2 HG02735.hp2 HG03486.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0004 a0003c0004t0001 a0003c0004t0004	a0003c0004t0001g0050 a0003c0004t0001g0233 a0003c0004t0001g0261 others(1): Show a0003c0004t0001g0050 a0003c0004t0001g0233 a0003c0004t0001g0261 a0003c0004t0004g0133	5	426	0.0117	c.484 others(3): Show c.484G>A	p.Ala others(6): Show p.Ala162Thr	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding	6/7	569/2192	484/585	162/194	chr9	TogoVar
AK1_chr9_127861486_127882675	127868470	C C	G G	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01993.hp1 HG02602.hp2 others(9): Show HG00741.hp1 HG01993.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG03704.hp1 HG03704.hp2 HG04199.hp2 HG04204.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0044 a0002c0002t0002g0097 others(5): Show a0002c0002t0002g0013 a0002c0002t0002g0044 a0002c0002t0002g0097 a0002c0002t0002g0115 a0002c0002t0002g0144 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0152	12	426	0.0282	c.367 others(3): Show c.367G>C	p.Glu others(6): Show p.Glu123Gln	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding	6/7	452/2192	367/585	123/194	chr9	TogoVar
AK1_chr9_127861486_127882675	127871899	T T	C C	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0253 a0005c0008t0014g0253	1	426	0.0024	c.248 others(3): Show c.248A>G	p.Lys others(5): Show p.Lys83Arg	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding	5/7	333/2192	248/585	83/194	chr9	TogoVar
AK1_chr9_127861486_127882675	127872724	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0142 a0004c0009t0001g0142	1	426	0.0024	c.173 others(3): Show c.173C>T	p.Ser others(5): Show p.Ser58Leu	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding	4/7	258/2192	173/585	58/194	chr9	TogoVar
AK2_chr1_33002986_33041883	33013356	G G	A A	missense_variant missense_variant	MODERATE	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0229 a0003c0006t0001g0229	1	350	0.0029	c.545 others(3): Show c.545C>T	p.Ala others(6): Show p.Ala182Val	AK2	ENSG00000004455.18	transcript	ENST00000672715.1	protein_coding	6/6	600/5970	545/720	182/239	chr1	TogoVar
AK2_chr1_33002986_33041883	33014560	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0223 a0004c0004t0004g0223	1	350	0.0029	c.460 others(3): Show c.460G>A	p.Glu others(6): Show p.Glu154Lys	AK2	ENSG00000004455.18	transcript	ENST00000672715.1	protein_coding	5/6	515/5970	460/720	154/239	chr1	TogoVar
AK2_chr1_33002986_33041883	33036780	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0249 a0002c0002t0002g0250	2	350	0.0057	c.49C others(2): Show c.49C>G	p.Arg others(5): Show p.Arg17Gly	AK2	ENSG00000004455.18	transcript	ENST00000672715.1	protein_coding	1/6	104/5970	49/720	17/239	chr1	TogoVar
AK3_chr9_4704556_4746202	4713068	C C	T T	missense_variant missense_variant	MODERATE	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0244 a0003c0006t0002g0244	1	462	0.0022	c.592 others(3): Show c.592G>A	p.Gly others(6): Show p.Gly198Arg	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	5/5	707/4219	592/684	198/227	chr9	TogoVar

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