JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTR8_chr3_53862066_53887152	53868323	G G	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0075 a0002c0003t0020g0075	1	432	0.0023	0	c.39 others(4): Show c.396C>G	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	13/13	396		chr3	TogoVar
ACTR8_chr3_53862066_53887152	53868364	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0099 a0001c0002t0014g0099	1	432	0.0023	0	c.35 others(4): Show c.355G>A	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	13/13	355		chr3	TogoVar
ACTR8_chr3_53862066_53887152	53868512	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	432	0.0023	0	c.20 others(4): Show c.207T>C	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	13/13	207		chr3	TogoVar
ACTR8_chr3_53862066_53887152	53868541	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0098 a0001c0002t0013g0098	1	432	0.0023	0	c.17 others(4): Show c.178G>A	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	13/13	178		chr3	TogoVar
ACTR8_chr3_53862066_53887152	53868656	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG01981.hp1 HG02004.hp2 others(18): Show HG00621.hp2 HG01981.hp1 HG02004.hp2 HG02080.hp2 HG02129.hp1 HG02165.hp1 HG04204.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp1 NA19055.hp2 NA19063.hp1 NA19081.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021	a0001c0001t0004g0009 a0001c0001t0004g0064 a0001c0001t0004g0068 others(4): Show a0001c0001t0004g0009 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0006g0024 a0001c0001t0021g0070	21	432	0.0486	0	c.63 others(3): Show c.63A>G	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	13/13	63		chr3	TogoVar
ACTRT1_chrX_128045962_128057403	128051014	C C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp2 others(19): Show HG00099.hp1 HG00323.hp2 HG00639.hp2 HG01109.hp1 HG01123.hp1 HG01496.hp2 HG01993.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02293.hp2 HG02559.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG06807.hp1 NA18984.hp1 NA19240.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0002 a0007c0009t0002 a0001c0001t0002 a0007c0009t0002	a0001c0001t0002g0000 a0007c0009t0002g0000 a0001c0001t0002g0000 a0007c0009t0002g0000	22	285	0.0772	0	c.62 others(3): Show c.62G>C	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	62		chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051035	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	285	0.0035	0	c.41 others(3): Show c.41C>T	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	41		chrX	TogoVar
ACTRT2_chr1_3016467_3027903	3022826	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18983.hp1 NA18975.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	2	366	0.0055	0	c.6G others(2): Show c.6G>A	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	6		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022834	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0000 a0002c0002t0005g0000	1	366	0.0027	0	c.14 others(3): Show c.14T>C	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	14		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022845	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	366	0.0027	0	c.25 others(3): Show c.25G>A	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	25		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022845	G G	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG01099.hp2 HG02015.hp1 others(36): Show HG00673.hp2 HG01099.hp2 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02622.hp1 HG02809.hp1 HG02897.hp1 HG03017.hp1 HG03710.hp1 HG03942.hp2 NA18944.hp1 NA18949.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp1 NA18975.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19074.hp1 NA19074.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 others(1): Show a0001c0001 a0001c0004 a0001c0012 a0001c0014	a0001c0001t0002 a0001c0004t0002 a0001c0012t0002 others(1): Show a0001c0001t0002 a0001c0004t0002 a0001c0012t0002 a0001c0014t0002	a0001c0001t0002g0000 a0001c0004t0002g0000 a0001c0012t0002g0000 others(1): Show a0001c0001t0002g0000 a0001c0004t0002g0000 a0001c0012t0002g0000 a0001c0014t0002g0000	39	366	0.1066	0	c.25 others(3): Show c.25G>T	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	25		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169766925	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02809.hp1 others(1): Show HG01109.hp1 HG02145.hp1 HG02809.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	4	418	0.0096	0	c.50 others(4): Show c.507T>C	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	507		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169766980	T T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	418	0.0024	0	c.45 others(4): Show c.452A>T	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	452		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169766989	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	418	0.0024	0	c.44 others(4): Show c.443A>G	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	443		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169767208	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	418	0.0024	0	c.22 others(4): Show c.224A>G	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	224		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169767303	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG01891.hp2 others(10): Show HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0002g0006 a0001c0001t0002g0030	13	418	0.0311	0	c.12 others(4): Show c.129A>G	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	129		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51994174	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp2 NA19009.hp2 NA18952.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0027 a0001c0001t0017g0027	2	324	0.0062	0	c.64 others(3): Show c.64G>A	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	64		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994294	C C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0044 a0001c0001t0031g0044	1	324	0.0031	0	c.18 others(4): Show c.184C>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	184		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994336	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02965.hp1 HG02451.hp2 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0275 a0001c0006t0016g0276 a0001c0006t0016g0275 a0001c0006t0016g0276	2	324	0.0062	0	c.22 others(4): Show c.226G>A	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	226		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994344	TGGA TGGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03471.hp2 HG01167.hp2 HG01169.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0140 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0140 a0001c0001t0011g0146 a0001c0001t0011g0147	3	324	0.0093	-3	c.23 others(12): Show c.236_*238delGAG	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994366	C C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0135 a0001c0001t0030g0135	1	324	0.0031	0	c.25 others(4): Show c.256C>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	256		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994437	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG02717.hp1 others(1): Show HG01106.hp2 HG01167.hp1 HG02717.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0029 a0001c0001t0015 a0001c0001t0029	a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 others(1): Show a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 a0001c0001t0029g0271	4	324	0.0124	0	c.32 others(4): Show c.327C>T	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	327		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994667	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0242 a0001c0001t0023g0242	1	324	0.0031	0	c.55 others(4): Show c.557T>C	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	557		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994789	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18992.hp1 NA19076.hp2 NA18948.hp1 NA18992.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0014g0087 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0014g0087	3	324	0.0093	0	c.67 others(4): Show c.679C>T	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	679		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994812	C C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0209 a0001c0001t0028g0209	1	324	0.0031	0	c.70 others(4): Show c.702C>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	702		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994948	CCAGCATC others(4): Show CCAGCATCAGCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0269 a0001c0001t0027g0269	1	324	0.0031	-11	c.84 others(20): Show c.843_*853delATCAGCACAGC	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	843	INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994973	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0278 a0001c0001t0026g0278	1	324	0.0031	0	c.86 others(4): Show c.863C>T	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	863		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51995107	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(157): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0002 a0001c0002t0019 a0001c0003t0002 a0001c0004t0013 a0001c0005t0020 a0001c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(140): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0151 a0001c0001t0002g0184 a0001c0001t0002g0259 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0103 a0001c0001t0007g0013 a0001c0001t0007g0115 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0073 a0001c0001t0011g0140 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0014g0087 a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 a0001c0001t0018g0113 a0001c0001t0018g0114 a0001c0001t0019g0075 a0001c0001t0022g0273 a0001c0001t0026g0278 a0001c0001t0029g0271 a0001c0001t0030g0135 a0001c0001t0031g0044 a0001c0002t0002g0004 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0019g0004 a0001c0003t0002g0012 a0001c0003t0002g0110 a0001c0004t0013g0028 a0001c0004t0013g0261 a0001c0005t0020g0280 a0001c0005t0020g0281 a0001c0007t0002g0079	160	324	0.4938	0	c.99 others(4): Show c.997A>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	997		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51995198	A A	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0277 a0001c0001t0025g0277	1	324	0.0031	0	c.10 others(5): Show c.1088A>T	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	1088		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51995513	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0217 a0001c0001t0024g0217	1	324	0.0031	0	c.14 others(5): Show c.1403G>A	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	1403		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51995689	T T	TA TA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(152): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0002t0002 a0001c0003t0002 a0001c0004t0013 a0001c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(135): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0151 a0001c0001t0002g0184 a0001c0001t0002g0259 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0103 a0001c0001t0007g0013 a0001c0001t0007g0115 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0073 a0001c0001t0011g0140 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0014g0087 a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 a0001c0001t0018g0113 a0001c0001t0018g0114 a0001c0001t0022g0273 a0001c0001t0026g0278 a0001c0001t0030g0135 a0001c0001t0031g0044 a0001c0002t0002g0004 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0003t0002g0012 a0001c0003t0002g0110 a0001c0004t0013g0028 a0001c0004t0013g0261 a0001c0007t0002g0079	155	324	0.4784	1	c.15 others(6): Show c.1590dupA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	1591	INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51995815	G G	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02257.hp2 others(20): Show HG01109.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 others(2): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0001t0025 a0001c0006t0016	a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 others(20): Show a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0170 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0012g0150 a0001c0001t0012g0153 a0001c0001t0012g0162 a0001c0001t0021g0287 a0001c0001t0025g0277 a0001c0006t0016g0275 a0001c0006t0016g0276	23	324	0.0710	0	c.17 others(5): Show c.1705G>C	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	1705		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51995878	C C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03225.hp2 others(1): Show HG02896.hp1 HG02897.hp1 HG03225.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0026 a0001c0004t0013 a0001c0001t0026 a0001c0004t0013	a0001c0001t0026g0278 a0001c0004t0013g0028 a0001c0004t0013g0261 a0001c0001t0026g0278 a0001c0004t0013g0028 a0001c0004t0013g0261	4	324	0.0124	0	c.17 others(5): Show c.1768C>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	1768		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996209	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01071.hp2 others(4): Show HG00323.hp2 HG00741.hp1 HG01071.hp2 HG01346.hp1 HG01361.hp1 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0207 a0001c0001t0008g0232 others(1): Show a0001c0001t0008g0001 a0001c0001t0008g0207 a0001c0001t0008g0232 a0001c0001t0008g0233	7	324	0.0216	0	c.20 others(5): Show c.2099A>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2099		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996237	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03225.hp1 HG02895.hp2 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0030 a0001c0005t0020 a0001c0001t0030 a0001c0005t0020	a0001c0001t0030g0135 a0001c0005t0020g0280 a0001c0005t0020g0281 a0001c0001t0030g0135 a0001c0005t0020g0280 a0001c0005t0020g0281	3	324	0.0093	0	c.21 others(5): Show c.2127A>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2127		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996255	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01099.hp2 others(7): Show HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01934.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 others(4): Show a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0103	10	324	0.0309	0	c.21 others(5): Show c.2145A>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2145		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996462	C C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG03130.hp1 HG01346.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0113 a0001c0001t0018g0114 a0001c0001t0018g0113 a0001c0001t0018g0114	2	324	0.0062	0	c.23 others(5): Show c.2352C>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2352		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996512	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG02109.hp1 HG02723.hp1 others(7): Show HG00323.hp1 HG02109.hp1 HG02723.hp1 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 NA18951.hp1 NA18952.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0007 a0001c0001t0022	a0001c0001t0007g0013 a0001c0001t0007g0115 a0001c0001t0007g0122 others(6): Show a0001c0001t0007g0013 a0001c0001t0007g0115 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0022g0273	10	324	0.0309	0	c.24 others(5): Show c.2402C>T	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2402		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996612	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG02717.hp1 HG01106.hp2 HG01167.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288	3	324	0.0093	0	c.25 others(5): Show c.2502C>T	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2502		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996641	T T	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0278 a0001c0001t0026g0278	1	324	0.0031	0	c.25 others(5): Show c.2531T>G	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2531		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996790	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01099.hp1 others(3): Show HG00280.hp1 HG01074.hp1 HG01099.hp1 HG02698.hp1 HG03239.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0158 a0001c0001t0009g0159 others(2): Show a0001c0001t0009g0016 a0001c0001t0009g0158 a0001c0001t0009g0159 a0001c0001t0009g0160 a0001c0001t0009g0161	6	324	0.0185	0	c.26 others(5): Show c.2680C>T	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2680		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51996800	A A	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG01928.hp1 others(3): Show HG01081.hp2 HG01496.hp1 HG01928.hp1 HG02080.hp2 NA18612.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 others(3): Show a0001c0001t0010g0054 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0073	6	324	0.0185	0	c.26 others(5): Show c.2690A>C	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	2690		chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157527136	TGAATATC others(4): Show TGAATATCATTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0048 a0001c0002t0028g0048	1	216	0.0046	-11	c.67 others(22): Show c.6771_*6781delGAATGATATTC	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	6771		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157527373	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0070 a0001c0002t0037g0070	1	216	0.0046	0	c.65 others(5): Show c.6545G>A	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	6545		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157527545	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0027 a0002c0008t0027	a0002c0008t0027g0105 a0002c0008t0027g0105	1	216	0.0046	0	c.63 others(5): Show c.6373T>C	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	6373		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157527804	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0017g0214 a0002c0003t0017g0215	2	216	0.0093	0	c.61 others(5): Show c.6114C>T	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	6114		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157528047	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG03471.hp2 NA21309.hp2 HG02109.hp1 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0011 a0001c0009t0011 a0001c0001t0011 a0001c0009t0011	a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0009t0011g0158 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0009t0011g0158	3	216	0.0139	0	c.58 others(5): Show c.5871C>T	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	5871		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157528071	T T	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG06807.hp2 HG02280.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0028 a0001c0001t0029 a0001c0002t0028	a0001c0001t0029g0014 a0001c0002t0028g0048 a0001c0001t0029g0014 a0001c0002t0028g0048	2	216	0.0093	0	c.58 others(5): Show c.5847A>C	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	5847		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157528286	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(160): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18988.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0009 others(8): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0011 a0002c0013 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0022 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0002t0031 a0001c0002t0037 a0001c0009t0011 a0001c0010t0004 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0013 a0002c0003t0017 a0002c0003t0020 a0002c0003t0021 a0002c0004t0002 a0002c0004t0008 a0002c0004t0010 a0002c0004t0013 a0002c0005t0008 a0002c0005t0009 a0002c0008t0002 a0002c0008t0027 a0002c0011t0002 a0002c0013t0010 a0003c0006t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(160): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0004g0139 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0184 a0001c0001t0005g0149 a0001c0001t0005g0155 a0001c0001t0005g0164 a0001c0001t0005g0213 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0022g0168 a0001c0001t0032g0169 a0001c0001t0033g0194 a0001c0001t0034g0144 a0001c0001t0035g0142 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0122 a0001c0002t0004g0125 a0001c0002t0004g0130 a0001c0002t0004g0134 a0001c0002t0004g0135 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0005g0033 a0001c0002t0005g0095 a0001c0002t0015g0053 a0001c0002t0015g0141 a0001c0002t0019g0091 a0001c0002t0023g0007 a0001c0002t0024g0108 a0001c0002t0031g0087 a0001c0002t0037g0070 a0001c0009t0011g0158 a0001c0010t0004g0126 a0002c0003t0002g0006 a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0057 a0002c0003t0002g0060 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0008g0012 a0002c0003t0008g0028 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0013g0050 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0020g0083 a0002c0003t0021g0096 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0002g0204 a0002c0004t0008g0183 a0002c0004t0010g0190 a0002c0004t0013g0018 a0002c0005t0008g0004 a0002c0005t0008g0005 a0002c0005t0009g0009 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0011t0002g0011 a0002c0013t0010g0052 a0003c0006t0005g0167 a0003c0006t0005g0186	163	216	0.7546	0	c.56 others(5): Show c.5632C>T	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	5632		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157528630	G G	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG03471.hp2 NA21309.hp2 HG02109.hp1 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0011 a0001c0009t0011 a0001c0001t0011 a0001c0009t0011	a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0009t0011g0158 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0009t0011g0158	3	216	0.0139	0	c.52 others(5): Show c.5288C>G	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	5288		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)