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
ABCB5_chr7_20610667_20762008	20755581	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0053 a0053	a0053c0090 a0053c0090	a0053c0090t0004 a0053c0090t0004	a0053c0090t0004g0125 a0053c0090t0004g0125	1	360	0.0028	c.373 others(4): Show c.3731G>A	p.Arg others(7): Show p.Arg1244Gln	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	28/28	3923/5350	3731/3774	1244/1257	chr7	TogoVar
ABCB6_chr2_219204772_219223958	219210418	C C	A A	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0001 a0012c0010t0001	a0012c0010t0001g0037 a0012c0010t0001g0037	1	358	0.0028	c.231 others(4): Show c.2314G>T	p.Val others(6): Show p.Val772Phe	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	17/19	2599/2980	2314/2529	772/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219210751	C C	T T	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01074.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0035 a0011c0009t0001g0035	1	358	0.0028	c.221 others(4): Show c.2216G>A	p.Arg others(6): Show p.Arg739His	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	16/19	2501/2980	2216/2529	739/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219213250	T T	C C	missense_variant missense_variant	MODERATE	NA19000.hp1 NA19000.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0044 a0010c0012t0001g0044	1	358	0.0028	c.179 others(4): Show c.1796A>G	p.Tyr others(6): Show p.Tyr599Cys	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	12/19	2081/2980	1796/2529	599/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219213842	G G	C C	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00642.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0045 a0009c0013t0001g0045	1	358	0.0028	c.156 others(4): Show c.1562C>G	p.Thr others(6): Show p.Thr521Ser	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	9/19	1847/2980	1562/2529	521/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219214414	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01952.hp1 HG01993.hp1 HG00735.hp1 HG01952.hp1 HG01993.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0031 a0003c0004t0001g0019 a0003c0004t0001g0031	3	358	0.0084	c.136 others(4): Show c.1361T>C	p.Val others(6): Show p.Val454Ala	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	7/19	1646/2980	1361/2529	454/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219216039	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0027 a0008c0008t0001g0027	1	358	0.0028	c.111 others(4): Show c.1112G>A	p.Arg others(6): Show p.Arg371Gln	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	5/19	1397/2980	1112/2529	371/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219216123	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp2 HG02109.hp1 HG02145.hp1 others(12): Show HG01175.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp2 HG03471.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0013c0014 a0002c0003 a0013c0014	a0002c0003t0002 a0013c0014t0002 a0002c0003t0002 a0013c0014t0002	a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0062 others(1): Show a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0062 a0013c0014t0002g0060	15	358	0.0419	c.102 others(4): Show c.1028G>A	p.Arg others(6): Show p.Arg343Gln	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	5/19	1313/2980	1028/2529	343/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219216418	C C	T T	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0058 a0007c0015t0001g0058	1	358	0.0028	c.916 others(3): Show c.916G>A	p.Val others(6): Show p.Val306Ile	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	4/19	1201/2980	916/2529	306/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219216694	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp1 homoSapiens_chm13v2.hp1 HG01515.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0021 a0005c0006t0001g0021	2	358	0.0056	c.826 others(3): Show c.826C>T	p.Arg others(6): Show p.Arg276Trp	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	3/19	1111/2980	826/2529	276/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219216781	G G	A A	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01978.hp2 HG01928.hp2 HG01978.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0050 a0004c0007t0001g0051 a0004c0007t0001g0050 a0004c0007t0001g0051	2	358	0.0056	c.739 others(3): Show c.739C>T	p.Arg others(6): Show p.Arg247Cys	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	3/19	1024/2980	739/2529	247/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219218184	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0002 a0013c0014t0002	a0013c0014t0002g0060 a0013c0014t0002g0060	1	358	0.0028	c.490 others(3): Show c.490G>A	p.Ala others(6): Show p.Ala164Thr	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	1/19	775/2980	490/2529	164/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219218262	T T	C C	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0002 a0014c0017t0002	a0014c0017t0002g0077 a0014c0017t0002g0077	1	358	0.0028	c.412 others(3): Show c.412A>G	p.Met others(6): Show p.Met138Val	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	1/19	697/2980	412/2529	138/842	chr2	TogoVar
ABCB6_chr2_219204772_219223958	219218271	G G	T T	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18983.hp1 NA18982.hp1 NA18983.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0017 a0006c0005t0001g0017	2	358	0.0056	c.403 others(3): Show c.403C>A	p.Arg others(6): Show p.Arg135Ser	ABCB6	ENSG00000115657.14	transcript	ENST00000265316.9	protein_coding	1/19	688/2980	403/2529	135/842	chr2	TogoVar
ABCB7_chrX_75046048_75161283	75065162	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00738.hp1 HG01884.hp1 others(14): Show HG00735.hp2 HG00738.hp1 HG01884.hp1 HG02109.hp1 HG02257.hp2 HG02717.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0006 others(14): Show a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021	17	232	0.0733	c.173 others(4): Show c.1739C>T	p.Ala others(6): Show p.Ala580Val	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	13/16	1750/4592	1739/2259	580/752	chrX	TogoVar
ABCB7_chrX_75046048_75161283	75098971	T T	G G	missense_variant missense_variant	MODERATE	NA19067.hp1 NA19067.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0174 a0004c0007t0005g0174	1	232	0.0043	c.424 others(3): Show c.424A>C	p.Ile others(6): Show p.Ile142Leu	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/16	435/4592	424/2259	142/752	chrX	TogoVar
ABCB7_chrX_75046048_75161283	75099034	T T	C C	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0017 a0005c0008t0017	a0005c0008t0017g0085 a0005c0008t0017g0085	1	232	0.0043	c.361 others(3): Show c.361A>G	p.Ile others(6): Show p.Ile121Val	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/16	372/4592	361/2259	121/752	chrX	TogoVar
ABCB7_chrX_75046048_75161283	75156152	A A	G G	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0003 a0003c0005t0001g0003	1	232	0.0043	c.121 others(3): Show c.121T>C	p.Trp others(5): Show p.Trp41Arg	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/16	132/4592	121/2259	41/752	chrX	TogoVar
ABCB8_chr7_151023450_151052782	151033625	G G	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG02486.hp2 HG02572.hp1 others(5): Show HG01952.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03579.hp2	a0005 a0008 a0005 a0008	a0005c0007 a0008c0013 a0005c0007 a0008c0013	a0005c0007t0003 a0005c0007t0009 a0005c0007t0026 others(1): Show a0005c0007t0003 a0005c0007t0009 a0005c0007t0026 a0008c0013t0003	a0005c0007t0003g0009 a0005c0007t0009g0093 a0005c0007t0026g0009 others(1): Show a0005c0007t0003g0009 a0005c0007t0009g0093 a0005c0007t0026g0009 a0008c0013t0003g0009	8	400	0.0200	c.116 others(3): Show c.116G>A	p.Ser others(5): Show p.Ser39Asn	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	182/4656	116/2157	39/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151033657	C C	T T	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18984.hp2 NA18969.hp2 NA18984.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0003 a0007c0012t0003g0003	2	400	0.0050	c.148 others(3): Show c.148C>T	p.Arg others(5): Show p.Arg50Trp	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	214/4656	148/2157	50/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151033665	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0003 a0009c0014t0003	a0009c0014t0003g0003 a0009c0014t0003g0003	1	400	0.0025	c.156 others(3): Show c.156G>C	p.Gln others(5): Show p.Gln52His	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	222/4656	156/2157	52/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151033722	G G	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0003 a0009c0014t0003	a0009c0014t0003g0003 a0009c0014t0003g0003	1	400	0.0025	c.213 others(3): Show c.213G>T	p.Trp others(5): Show p.Trp71Cys	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	279/4656	213/2157	71/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151033840	G G	T T	missense_variant missense_variant	MODERATE	HG02129.hp2 HG02129.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0005 a0010c0024t0005	a0010c0024t0005g0005 a0010c0024t0005g0005	1	400	0.0025	c.331 others(3): Show c.331G>T	p.Val others(6): Show p.Val111Leu	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	397/4656	331/2157	111/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151033850	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0009 a0008c0013t0003g0009	1	400	0.0025	c.341 others(3): Show c.341G>A	p.Arg others(6): Show p.Arg114His	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	407/4656	341/2157	114/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151033879	C C	G G	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0003 a0016c0023t0003	a0016c0023t0003g0011 a0016c0023t0003g0011	1	400	0.0025	c.370 others(3): Show c.370C>G	p.Leu others(6): Show p.Leu124Val	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	436/4656	370/2157	124/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151033912	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00438.hp2 HG00639.hp2 others(24): Show HG00140.hp1 HG00438.hp2 HG00639.hp2 HG01069.hp2 HG01258.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02630.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03831.hp2 HG03927.hp1 NA18948.hp2 NA18953.hp1 NA18968.hp2 NA18970.hp1 NA18998.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0002c0003t0004 a0004c0005t0004	a0002c0003t0004g0007 a0002c0003t0004g0008 a0002c0003t0004g0012 others(7): Show a0002c0003t0004g0007 a0002c0003t0004g0008 a0002c0003t0004g0012 a0002c0003t0004g0036 a0002c0003t0004g0080 a0002c0003t0004g0081 a0004c0005t0004g0008 a0004c0005t0004g0056 a0004c0005t0004g0077 a0004c0005t0004g0078	27	400	0.0675	c.403 others(3): Show c.403G>A	p.Val others(6): Show p.Val135Ile	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	2/16	469/4656	403/2157	135/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151034396	A A	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0023 a0011c0022t0023	a0011c0022t0023g0040 a0011c0022t0023g0040	1	400	0.0025	c.532 others(3): Show c.532A>C	p.Ser others(6): Show p.Ser178Arg	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	3/16	598/4656	532/2157	178/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151035725	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00738.hp1 HG01358.hp2 others(10): Show HG00735.hp1 HG00738.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG02027.hp2 HG02071.hp1 HG02129.hp2 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG04228.hp2 NA19085.hp1	a0003 a0010 a0003 a0010	a0003c0004 a0010c0024 a0003c0004 a0010c0024	a0003c0004t0005 a0010c0024t0005 a0003c0004t0005 a0010c0024t0005	a0003c0004t0005g0005 a0003c0004t0005g0084 a0003c0004t0005g0107 others(3): Show a0003c0004t0005g0005 a0003c0004t0005g0084 a0003c0004t0005g0107 a0003c0004t0005g0109 a0003c0004t0005g0111 a0010c0024t0005g0005	13	400	0.0325	c.910 others(3): Show c.910C>T	p.Arg others(6): Show p.Arg304Cys	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	6/16	976/4656	910/2157	304/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151036630	G G	T T	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0017 a0015c0021t0017	a0015c0021t0017g0002 a0015c0021t0017g0002	1	400	0.0025	c.119 others(4): Show c.1198G>T	p.Ala others(6): Show p.Ala400Ser	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	9/16	1264/4656	1198/2157	400/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151040601	G G	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02280.hp2 HG02886.hp1 others(3): Show HG01891.hp2 HG02280.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03540.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0018 a0006c0008t0004g0032 a0006c0008t0004g0112 a0006c0008t0004g0018 a0006c0008t0004g0032 a0006c0008t0004g0112	6	400	0.0150	c.135 others(4): Show c.1355G>T	p.Arg others(6): Show p.Arg452Leu	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	11/16	1421/4656	1355/2157	452/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151041152	G G	A A	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0001 a0012c0018t0002g0001	1	400	0.0025	c.153 others(4): Show c.1537G>A	p.Val others(6): Show p.Val513Met	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	13/16	1603/4656	1537/2157	513/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151041967	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00639.hp2 HG01069.hp2 others(6): Show HG00140.hp1 HG00639.hp2 HG01069.hp2 HG01258.hp1 HG03831.hp2 HG03927.hp1 NA18968.hp2 NA18998.hp2 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0008 a0004c0005t0004g0056 a0004c0005t0004g0077 others(1): Show a0004c0005t0004g0008 a0004c0005t0004g0056 a0004c0005t0004g0077 a0004c0005t0004g0078	9	400	0.0225	c.162 others(4): Show c.1624G>A	p.Val others(6): Show p.Val542Ile	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	14/16	1690/4656	1624/2157	542/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151042022	C C	G G	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0002 a0013c0019t0002	a0013c0019t0002g0001 a0013c0019t0002g0001	1	400	0.0025	c.167 others(4): Show c.1679C>G	p.Ser others(6): Show p.Ser560Cys	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	14/16	1745/4656	1679/2157	560/718	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151045321	G G	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00735.hp1 HG00738.hp1 others(11): Show HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG02027.hp2 HG02071.hp1 HG02129.hp2 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG04228.hp2 NA19085.hp1	a0003 a0010 a0014 a0003 a0010 a0014	a0003c0004 a0010c0024 a0014c0016 a0003c0004 a0010c0024 a0014c0016	a0003c0004t0005 a0010c0024t0005 a0014c0016t0003 a0003c0004t0005 a0010c0024t0005 a0014c0016t0003	a0003c0004t0005g0005 a0003c0004t0005g0084 a0003c0004t0005g0107 others(4): Show a0003c0004t0005g0005 a0003c0004t0005g0084 a0003c0004t0005g0107 a0003c0004t0005g0109 a0003c0004t0005g0111 a0010c0024t0005g0005 a0014c0016t0003g0098	14	400	0.0350	c.212 others(4): Show c.2129G>T	p.Gly others(6): Show p.Gly710Val	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	16/16	2195/4656	2129/2157	710/718	chr7	TogoVar
ABCB9_chr12_122923992_122971463	122930092	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0046 a0006c0009t0001g0046	1	272	0.0037	c.212 others(4): Show c.2120C>T	p.Ala others(6): Show p.Ala707Val	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	12/12	2384/3484	2120/2301	707/766	chr12	TogoVar
ABCB9_chr12_122923992_122971463	122940823	T T	A A	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0097 a0007c0011t0002g0097	1	272	0.0037	c.155 others(4): Show c.1553A>T	p.His others(6): Show p.His518Leu	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	8/12	1817/3484	1553/2301	518/766	chr12	TogoVar
ABCB9_chr12_122923992_122971463	122946050	T T	G G	missense_variant missense_variant	MODERATE	NA18957.hp1 NA19056.hp2 NA18957.hp1 NA19056.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0140 a0004c0004t0001g0157 a0004c0004t0001g0140 a0004c0004t0001g0157	2	272	0.0074	c.122 others(4): Show c.1226A>C	p.Tyr others(6): Show p.Tyr409Ser	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	6/12	1490/3484	1226/2301	409/766	chr12	TogoVar
ABCB9_chr12_122923992_122971463	122946140	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0072 a0005c0008t0003g0072	1	272	0.0037	c.113 others(4): Show c.1136G>A	p.Arg others(6): Show p.Arg379Gln	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	6/12	1400/3484	1136/2301	379/766	chr12	TogoVar
ABCB9_chr12_122923992_122971463	122950536	G G	A A	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0160 a0003c0005t0001g0180 a0003c0005t0001g0160 a0003c0005t0001g0180	2	272	0.0074	c.631 others(3): Show c.631C>T	p.Arg others(6): Show p.Arg211Cys	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	3/12	895/3484	631/2301	211/766	chr12	TogoVar
ABCB9_chr12_122923992_122971463	122950563	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0143 a0008c0007t0001g0143	1	272	0.0037	c.604 others(3): Show c.604G>A	p.Glu others(6): Show p.Glu202Lys	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	3/12	868/3484	604/2301	202/766	chr12	TogoVar
ABCB9_chr12_122923992_122971463	122959752	C C	T T	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0001 a0009c0006t0001	a0009c0006t0001g0033 a0009c0006t0001g0033	1	272	0.0037	c.484 others(3): Show c.484G>A	p.Gly others(6): Show p.Gly162Ser	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	2/12	748/3484	484/2301	162/766	chr12	TogoVar
ABCB9_chr12_122923992_122971463	122959875	C C	T T	missense_variant missense_variant	MODERATE	NA18966.hp1 NA18981.hp1 NA18989.hp1 others(3): Show NA18966.hp1 NA18981.hp1 NA18989.hp1 NA19011.hp1 NA19067.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0199 a0002c0002t0002g0200 others(3): Show a0002c0002t0002g0194 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203	6	272	0.0221	c.361 others(3): Show c.361G>A	p.Val others(6): Show p.Val121Met	ABCB9	ENSG00000150967.19	transcript	ENST00000280560.13	protein_coding	2/12	625/3484	361/2301	121/766	chr12	TogoVar
ABCC10_chr6_43422541_43455427	43432335	C C	G G	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0152 a0013c0023t0001g0152	1	342	0.0029	c.355 others(3): Show c.355C>G	p.Leu others(6): Show p.Leu119Val	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	3/22	583/5043	355/4479	119/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43432604	T T	G G	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01517.hp2 HG02523.hp2 HG01070.hp2 HG01517.hp2 HG02523.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0020 a0005c0008t0001g0035 a0005c0008t0001g0020 a0005c0008t0001g0035	3	342	0.0088	c.624 others(3): Show c.624T>G	p.Asp others(6): Show p.Asp208Glu	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	3/22	852/5043	624/4479	208/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43432947	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0003 a0012c0010t0003	a0012c0010t0003g0136 a0012c0010t0003g0136	1	342	0.0029	c.967 others(3): Show c.967G>A	p.Gly others(6): Show p.Gly323Ser	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	3/22	1195/5043	967/4479	323/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43432953	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0201 a0006c0021t0001g0201	1	342	0.0029	c.973 others(3): Show c.973C>T	p.Leu others(6): Show p.Leu325Phe	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	3/22	1201/5043	973/4479	325/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43433005	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0077 a0011c0020t0001g0077	1	342	0.0029	c.102 others(4): Show c.1025A>G	p.Asn others(6): Show p.Asn342Ser	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	3/22	1253/5043	1025/4479	342/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43444176	C C	A A	missense_variant missense_variant	MODERATE	NA19062.hp2 NA19062.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0079 a0007c0016t0001g0079	1	342	0.0029	c.251 others(4): Show c.2512C>A	p.Gln others(6): Show p.Gln838Lys	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	12/22	2740/5043	2512/4479	838/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43444344	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02280.hp1 HG02965.hp2 others(3): Show HG02258.hp2 HG02280.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp2 NA19043.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0012 a0003c0006t0002g0081 a0003c0006t0002g0095 a0003c0006t0002g0012 a0003c0006t0002g0081 a0003c0006t0002g0095	6	342	0.0175	c.268 others(4): Show c.2680C>T	p.Leu others(6): Show p.Leu894Phe	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	12/22	2908/5043	2680/4479	894/1492	chr6	TogoVar
ABCC10_chr6_43422541_43455427	43445127	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG00621.hp2 HG00639.hp2 others(57): Show HG00140.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18954.hp2 NA18955.hp1 NA18970.hp2 NA19043.hp1 NA19058.hp2 NA19062.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0003 a0002c0004 a0002c0007 others(4): Show a0002c0003 a0002c0004 a0002c0007 a0002c0017 a0003c0006 a0005c0008 a0010c0011	a0002c0003t0001 a0002c0003t0005 a0002c0004t0002 others(5): Show a0002c0003t0001 a0002c0003t0005 a0002c0004t0002 a0002c0007t0002 a0002c0017t0001 a0003c0006t0002 a0005c0008t0001 a0010c0011t0002	a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0001g0024 others(42): Show a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0001g0024 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0060 a0002c0003t0001g0082 a0002c0003t0001g0096 a0002c0003t0001g0100 a0002c0003t0001g0107 a0002c0003t0001g0115 a0002c0003t0001g0126 a0002c0003t0001g0142 a0002c0003t0001g0157 a0002c0003t0001g0167 a0002c0003t0001g0171 a0002c0003t0001g0186 a0002c0003t0001g0193 a0002c0003t0005g0111 a0002c0004t0002g0010 a0002c0004t0002g0122 a0002c0004t0002g0123 a0002c0004t0002g0203 a0002c0004t0002g0204 a0002c0004t0002g0205 a0002c0004t0002g0207 a0002c0004t0002g0208 a0002c0007t0002g0112 a0002c0007t0002g0113 a0002c0007t0002g0118 a0002c0007t0002g0119 a0002c0017t0001g0087 a0003c0006t0002g0012 a0003c0006t0002g0081 a0003c0006t0002g0095 a0005c0008t0001g0020 a0005c0008t0001g0035 a0010c0011t0002g0128	60	342	0.1754	c.284 others(4): Show c.2843T>C	p.Ile others(6): Show p.Ile948Thr	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	14/22	3071/5043	2843/4479	948/1492	chr6	TogoVar

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