Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0086 a0001c0003t0012g0086	1	312	0.0032	12	c.150 others(31): Show c.1507-3234_1507-3223dupTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02055.hp1 NA18953.hp2 HG00140.hp1 HG02055.hp1 NA18953.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0014 a0001c0003t0028 a0001c0004t0004 a0001c0003t0014 a0001c0003t0028 a0001c0004t0004	a0001c0003t0014g0126 a0001c0003t0028g0095 a0001c0004t0004g0171 a0001c0003t0014g0126 a0001c0003t0028g0095 a0001c0004t0004g0171	3	312	0.0096	12	c.129 others(31): Show c.1294-1750_1294-1739dupCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGTGGGG others(5): Show CGGTGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0177 a0001c0004t0001g0178	2	312	0.0064	12	c.129 others(31): Show c.1294-1739_1294-1738insCCCCGCCCCACC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGTGGGG others(5): Show CGGTGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02622.hp2 HG03225.hp1 HG00544.hp2 HG02622.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0052 a0001c0002t0053 a0001c0001t0006 a0001c0002t0052 a0001c0002t0053	a0001c0001t0006g0258 a0001c0002t0052g0091 a0001c0002t0053g0090 a0001c0001t0006g0258 a0001c0002t0052g0091 a0001c0002t0053g0090	3	312	0.0096	12	c.129 others(31): Show c.1294-1739_1294-1738insCCCCCCCCCACC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51682577	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(15): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01884.hp1 HG01934.hp2 HG03471.hp2 HG03654.hp1 NA18985.hp2 NA18986.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0014	a0001c0001t0081 a0001c0002t0005 a0001c0002t0007 others(6): Show a0001c0001t0081 a0001c0002t0005 a0001c0002t0007 a0001c0002t0016 a0001c0002t0020 a0001c0002t0027 a0001c0006t0003 a0001c0009t0007 a0001c0014t0025	a0001c0001t0081g0058 a0001c0002t0005g0048 a0001c0002t0005g0065 others(15): Show a0001c0001t0081g0058 a0001c0002t0005g0048 a0001c0002t0005g0065 a0001c0002t0005g0067 a0001c0002t0005g0083 a0001c0002t0005g0142 a0001c0002t0005g0145 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0005g0286 a0001c0002t0007g0207 a0001c0002t0016g0056 a0001c0002t0020g0143 a0001c0002t0027g0197 a0001c0006t0003g0231 a0001c0006t0003g0232 a0001c0009t0007g0233 a0001c0014t0025g0160	18	312	0.0577	12	c.800 others(29): Show c.800-6381_800-6370dupAAAAAAAAAAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51687774	A A	AGAATGAA others(5): Show AGAATGAATGAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02647.hp1 others(1): Show HG00741.hp2 HG02109.hp1 HG02647.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 a0001c0003t0007 a0001c0003t0010 a0001c0003t0022	a0001c0003t0007g0130 a0001c0003t0010g0112 a0001c0003t0010g0155 others(1): Show a0001c0003t0007g0130 a0001c0003t0010g0112 a0001c0003t0010g0155 a0001c0003t0022g0131	4	312	0.0128	12	c.799 others(29): Show c.799+1289_799+1290insATTCATTCATTC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748940	T T	TAGACAGA others(5): Show TAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0045 a0001c0001t0024g0045	1	312	0.0032	12	c.69- others(29): Show c.69-18963_69-18962insGTCTGTCTGTCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748944	T T	TAGACAGA others(5): Show TAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03834.hp1 HG01358.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0264 a0001c0001t0019g0248 a0001c0001t0001g0264 a0001c0001t0019g0248	2	312	0.0064	12	c.69- others(29): Show c.69-18967_69-18966insGTCTGTCTGTCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGACAGA others(5): Show TAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(37): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG02015.hp1 HG02080.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02523.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG03710.hp2 HG03831.hp2 NA18612.hp1 NA18943.hp2 NA18957.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18982.hp1 NA18998.hp2 NA19004.hp1 NA19056.hp2 NA19065.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0030 a0001c0001t0042 a0001c0001t0055 a0001c0001t0059 a0001c0001t0069 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0002t0020 a0001c0002t0053 a0001c0003t0028 a0001c0004t0004 a0002c0012t0002	a0001c0001t0001g0015 a0001c0001t0001g0168 a0001c0001t0001g0186 others(37): Show a0001c0001t0001g0015 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0246 a0001c0001t0002g0259 a0001c0001t0002g0271 a0001c0001t0002g0305 a0001c0001t0006g0062 a0001c0001t0006g0258 a0001c0001t0006g0299 a0001c0001t0007g0267 a0001c0001t0010g0192 a0001c0001t0013g0051 a0001c0001t0030g0257 a0001c0001t0042g0148 a0001c0001t0055g0260 a0001c0001t0059g0256 a0001c0001t0069g0265 a0001c0002t0002g0005 a0001c0002t0002g0161 a0001c0002t0005g0048 a0001c0002t0005g0144 a0001c0002t0005g0286 a0001c0002t0007g0006 a0001c0002t0011g0052 a0001c0002t0015g0047 a0001c0002t0020g0102 a0001c0002t0020g0143 a0001c0002t0053g0090 a0001c0003t0028g0095 a0001c0004t0004g0288 a0002c0012t0002g0240	40	312	0.1282	12	c.69- others(29): Show c.69-18982_69-18971dupGTCTGTCTGTCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(5): Show TAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01071.hp2 others(12): Show HG00609.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01496.hp1 HG02055.hp2 HG02293.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp2 NA18951.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0044 a0001c0001t0063 a0001c0002t0005 a0001c0002t0027 a0001c0002t0056 a0001c0003t0008 a0001c0004t0004	a0001c0001t0001g0026 a0001c0001t0002g0241 a0001c0001t0002g0250 others(12): Show a0001c0001t0001g0026 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0004g0106 a0001c0001t0009g0004 a0001c0001t0009g0078 a0001c0001t0011g0245 a0001c0001t0044g0251 a0001c0001t0063g0115 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0027g0197 a0001c0002t0056g0092 a0001c0003t0008g0236 a0001c0004t0004g0162	15	312	0.0481	12	c.69- others(29): Show c.69-18971_69-18970insGTCTGTCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51748948	T T	TAGATAGA others(5): Show TAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02293.hp1 HG00099.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0063 a0001c0001t0019g0308 a0001c0001t0004g0063 a0001c0001t0019g0308	2	312	0.0064	12	c.69- others(29): Show c.69-18971_69-18970insGTCTATCTATCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51768415	T T	TGGGCCGC others(5): Show TGGGCCGCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0258 a0001c0001t0006g0258	1	312	0.0032	12	c.-47 others(19): Show c.-47_-46insGGGCGGCGGCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding		26		chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071049	C C	CTTTTTTC others(5): Show CTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02293.hp2 NA20129.hp1 HG01243.hp1 HG02293.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0007 a0003c0020 a0001c0006 a0003c0007 a0003c0020	a0001c0006t0007 a0003c0007t0004 a0003c0020t0004 a0001c0006t0007 a0003c0007t0004 a0003c0020t0004	a0001c0006t0007g0290 a0003c0007t0004g0288 a0003c0020t0004g0289 a0001c0006t0007g0290 a0003c0007t0004g0288 a0003c0020t0004g0289	3	298	0.0101	12	c.119 others(29): Show c.119+1526_119+1527insCTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79071395	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02074.hp1 HG02132.hp1 others(2): Show HG02056.hp2 HG02074.hp1 HG02132.hp1 NA19077.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013	a0001c0003t0002g0149 a0001c0003t0003g0147 a0001c0003t0003g0150 others(2): Show a0001c0003t0002g0149 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0013g0148	5	298	0.0168	12	c.119 others(29): Show c.119+1868_119+1869insTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp1 HG01496.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0004 a0001c0001t0001 a0001c0017t0004	a0001c0001t0001g0019 a0001c0017t0004g0099 a0001c0001t0001g0019 a0001c0017t0004g0099	2	298	0.0067	12	c.119 others(29): Show c.119+1873_119+1884dupTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157396	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	298	0.0034	12	c.778 others(29): Show c.778+2858_778+2869dupAAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157404	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03669.hp2 HG03834.hp2 others(2): Show HG03492.hp2 HG03669.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0199 a0002c0002t0002g0226 others(2): Show a0002c0002t0002g0182 a0002c0002t0002g0199 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0244	5	298	0.0168	12	c.778 others(29): Show c.778+2860_778+2861insCAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157405	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02027.hp1 HG02056.hp1 others(1): Show HG00140.hp2 HG02027.hp1 HG02056.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0001 a0002c0002t0002 a0002c0005t0001	a0002c0002t0002g0215 a0002c0002t0002g0235 a0002c0002t0002g0237 others(1): Show a0002c0002t0002g0215 a0002c0002t0002g0235 a0002c0002t0002g0237 a0002c0005t0001g0202	4	298	0.0134	12	c.778 others(29): Show c.778+2861_778+2862insCAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157409	A A	AAAAAAAA others(5): Show AAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	298	0.0034	12	c.778 others(29): Show c.778+2861_778+2862insCAAACAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79163867	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	298	0.0034	12	c.778 others(29): Show c.778+9313_778+9314insCACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79163869	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01975.hp1 HG02015.hp1 others(6): Show HG01168.hp1 HG01975.hp1 HG02015.hp1 HG02300.hp1 NA18945.hp1 NA18962.hp1 NA18970.hp1 NA19007.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0005t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0002	a0002c0002t0001g0163 a0002c0002t0002g0173 a0002c0002t0002g0200 others(6): Show a0002c0002t0001g0163 a0002c0002t0002g0173 a0002c0002t0002g0200 a0002c0002t0002g0212 a0002c0002t0002g0228 a0002c0002t0002g0232 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211	9	298	0.0302	12	c.778 others(29): Show c.778+9340_778+9351dupCACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79190511	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 HG03927.hp1 HG03139.hp2 HG03471.hp2 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0003 a0001c0010t0001 a0001c0010t0004 a0001c0003t0003 a0001c0010t0001 a0001c0010t0004	a0001c0003t0003g0121 a0001c0010t0001g0296 a0001c0010t0004g0297 a0001c0003t0003g0121 a0001c0010t0001g0296 a0001c0010t0004g0297	3	298	0.0101	12	c.874 others(29): Show c.874-2648_874-2637dupCACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79206623	C C	CATAAATA others(5): Show CATAAATAAATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0058 a0001c0024t0004g0058	1	298	0.0034	12	c.955 others(27): Show c.955-286_955-275dupAATAAATAAATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79231803	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0150 a0001c0003t0003g0150	1	298	0.0034	12	c.110 others(33): Show c.1107+17766_1107+17767insTATATACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0148 a0001c0003t0013g0148	1	298	0.0034	12	c.126 others(31): Show c.1268+2735_1268+2746dupTATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79344382	G G	GTCTGTCT others(5): Show GTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(4): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2 HG04204.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0039 a0002c0032 a0005c0009 a0001c0039 a0002c0032 a0005c0009	a0001c0039t0002 a0002c0032t0005 a0005c0009t0005 a0001c0039t0002 a0002c0032t0005 a0005c0009t0005	a0001c0039t0002g0266 a0002c0032t0005g0195 a0005c0009t0005g0165 others(4): Show a0001c0039t0002g0266 a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	7	298	0.0235	12	c.247 others(27): Show c.2472+37_2472+38insCTATCTGTCTGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	21/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376172	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18945.hp1 HG02559.hp2 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0004 a0002c0002t0002 a0001c0004t0004 a0002c0002t0002	a0001c0004t0004g0117 a0002c0002t0002g0212 a0001c0004t0004g0117 a0002c0002t0002g0212	2	298	0.0067	12	c.330 others(29): Show c.3307+778_3307+789dupCACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACAAA others(5): Show CACACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	298	0.0034	12	c.330 others(29): Show c.3307+789_3307+790insCACAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(5): Show CACACACAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18977.hp2 NA18990.hp2 HG04184.hp2 NA18977.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0001g0087	3	298	0.0101	12	c.330 others(29): Show c.3307+789_3307+790insCACACAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(5): Show CACACACACAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18942.hp2 NA18984.hp2 HG00735.hp1 NA18942.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0051	3	298	0.0101	12	c.330 others(29): Show c.3307+789_3307+790insCACACACAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46654528	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02523.hp2 NA19054.hp1 HG00408.hp1 HG02523.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0211 a0001c0001t0002g0049 a0001c0001t0002g0211	3	412	0.0073	12	c.490 others(27): Show c.490-673_490-662dupTAATAATAATAA	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding	4/8			chr1	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01975.hp1 HG01978.hp1 others(7): Show HG01928.hp1 HG01975.hp1 HG01978.hp1 HG02698.hp2 HG02738.hp2 HG03540.hp1 NA18977.hp1 NA18997.hp2 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0121 others(7): Show a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0217 a0001c0001t0009g0259	10	328	0.0305	12	c.733 others(27): Show c.733-473_733-462dupTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATPAF2_chr17_18013021_18044168	18019185	A A	ACACACAC others(5): Show ACACACACACACC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	328	0.0031	12	c.733 others(27): Show c.733-500_733-499insGGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATPAF2_chr17_18013021_18044168	18020108	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01928.hp2 others(5): Show HG00642.hp1 HG00735.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02300.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0132 others(5): Show a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0181	8	328	0.0244	12	c.732 others(29): Show c.732+1003_732+1014dupCAAACAAACAAA	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATPAF2_chr17_18013021_18044168	18043484	T T	TCCTTTAA others(5): Show TCCTTTAATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	328	0.0031	12	c.-44 others(23): Show c.-4483_-4472dupTTTTATTAAAGG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding		4317		chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115196165	C C	CTGAATGA others(5): Show CTGAATGAATGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG03139.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0001t0022 a0001c0005t0021 a0001c0001t0010 a0001c0001t0022 a0001c0005t0021	a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0022g0032 others(1): Show a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0022g0032 a0001c0005t0021g0007	4	128	0.0313	12	c.134 others(33): Show c.1349-19518_1349-19507dupGAATGAATGAAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115214041	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01258.hp1 HG01943.hp1 others(8): Show HG01081.hp2 HG01258.hp1 HG01943.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03834.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 a0001c0001t0043 a0001c0002t0028 a0001c0003t0002 a0001c0005t0021 a0001c0006t0009 a0001c0013t0009	a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0003g0093 others(8): Show a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0003g0093 a0001c0001t0008g0082 a0001c0001t0029g0075 a0001c0001t0043g0094 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0005t0021g0007 a0001c0006t0009g0038 a0001c0013t0009g0078	11	128	0.0859	12	c.134 others(31): Show c.1349-1640_1349-1629dupCACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115214057	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18959.hp1 NA18994.hp2 others(1): Show HG03834.hp1 NA18959.hp1 NA18994.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0006 a0001c0016t0003 a0001c0001t0001 a0001c0001t0006 a0001c0016t0003	a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0006g0109 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0006g0109 a0001c0016t0003g0097	4	128	0.0313	12	c.134 others(31): Show c.1349-1638_1349-1627dupCACACACACATA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223913	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03486.hp2 NA19030.hp1 HG02132.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0011 a0001c0011t0002 a0001c0001t0002 a0001c0001t0011 a0001c0011t0002	a0001c0001t0002g0080 a0001c0001t0011g0119 a0001c0011t0002g0116 a0001c0001t0002g0080 a0001c0001t0011g0119 a0001c0011t0002g0116	3	128	0.0234	12	c.153 others(31): Show c.1532+8034_1532+8035insGTGTATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATTT others(5): Show ATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 HG02572.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0048 a0001c0003t0015 a0001c0001t0048 a0001c0003t0015	a0001c0001t0048g0107 a0001c0003t0015g0108 a0001c0001t0048g0107 a0001c0003t0015g0108	2	128	0.0156	12	c.153 others(31): Show c.1532+8050_1532+8051insATATTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATTTTT others(5): Show ATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG04115.hp2 HG00735.hp1 HG01071.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0005 a0001c0003t0003 a0001c0009t0005 a0001c0002t0005 a0001c0003t0003 a0001c0009t0005	a0001c0002t0005g0044 a0001c0003t0003g0049 a0001c0009t0005g0059 a0001c0002t0005g0044 a0001c0003t0003g0049 a0001c0009t0005g0059	3	128	0.0234	12	c.153 others(31): Show c.1532+8050_1532+8051insATTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03041.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0043 a0001c0003t0003 a0001c0001t0043 a0001c0003t0003	a0001c0001t0043g0094 a0001c0003t0003g0060 a0001c0001t0043g0094 a0001c0003t0003g0060	2	128	0.0156	12	c.153 others(31): Show c.1532+8058_1532+8069dupTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115230870	T T	TGAGAGAG others(5): Show TGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0116 a0001c0011t0002g0116	1	128	0.0078	12	c.153 others(33): Show c.1533-10660_1533-10649dupGAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115374453	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01109.hp1 others(20): Show HG00639.hp2 HG00735.hp1 HG01109.hp1 HG01361.hp1 HG02280.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 NA18994.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0002c0004 a0002c0008	a0001c0001t0008 a0001c0001t0022 a0001c0001t0026 others(13): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0026 a0001c0002t0004 a0001c0002t0005 a0001c0003t0003 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0006t0033 a0001c0007t0030 a0002c0004t0002 a0002c0004t0007 a0002c0004t0012 a0002c0008t0044	a0001c0001t0008g0014 a0001c0001t0022g0032 a0001c0001t0026g0010 others(20): Show a0001c0001t0008g0014 a0001c0001t0022g0032 a0001c0001t0026g0010 a0001c0002t0004g0039 a0001c0002t0004g0054 a0001c0002t0004g0127 a0001c0002t0005g0057 a0001c0003t0003g0049 a0001c0003t0003g0060 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0033g0035 a0001c0007t0030g0008 a0002c0004t0002g0012 a0002c0004t0002g0013 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0008t0044g0063	23	128	0.1797	12	c.317 others(33): Show c.3176-20182_3176-20171dupCTTCCTTCCTTC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	128	0.0078	12	c.317 others(33): Show c.3176-13221_3176-13210dupTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389546	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	128	0.0078	12	c.317 others(31): Show c.3176-5102_3176-5101insGTATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(5): Show GCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02630.hp1 others(3): Show HG02258.hp2 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0003t0045 a0001c0006t0013 a0001c0011t0002	a0001c0001t0007g0027 a0001c0001t0008g0030 a0001c0001t0016g0031 others(3): Show a0001c0001t0007g0027 a0001c0001t0008g0030 a0001c0001t0016g0031 a0001c0003t0045g0090 a0001c0006t0013g0029 a0001c0011t0002g0116	6	128	0.0469	12	c.332 others(33): Show c.3322+15991_3322+16002dupCTCTCTCTCTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442297	C C	CTCTCTCT others(5): Show CTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0010 a0001c0001t0026g0010	1	128	0.0078	12	c.332 others(33): Show c.3322+16002_3322+16003insCTCTTTCTCTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(5): Show CTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp2 HG02976.hp2 HG01109.hp2 HG02723.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0014 a0001c0003t0039 a0001c0007t0030 a0001c0003t0014 a0001c0003t0039 a0001c0007t0030	a0001c0003t0014g0089 a0001c0003t0039g0126 a0001c0007t0030g0008 a0001c0003t0014g0089 a0001c0003t0039g0126 a0001c0007t0030g0008	3	128	0.0234	12	c.332 others(33): Show c.3322+16002_3322+16003insCTCTCTCTCTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115521138	T T	TTTGTTGT others(5): Show TTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01891.hp1 others(4): Show HG00735.hp2 HG00738.hp2 HG01891.hp1 HG02559.hp2 HG02622.hp2 HG03453.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0002t0001	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 others(4): Show a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0007g0027 a0001c0001t0010g0018 a0001c0001t0020g0115 a0001c0002t0001g0045	7	128	0.0547	12	c.371 others(31): Show c.3716+1839_3716+1850dupTTGTTGTTGTTG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)