Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADAM12_chr10_126007391_126393477	126158866	GCAGAGCA others(15): Show GCAGAGCATGGGGAGAGGATGCA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0194 a0002c0001t0006g0194	1	252	0.0040	-22	c.261 others(39): Show c.261-3583_261-3562delTGCATCCTCTCCCCATGCTCTG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126251885	AATGGATG others(15): Show AATGGATGGATGGGATGGATAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00621.hp1 others(51): Show HG00140.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01975.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18951.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18975.hp1 NA18980.hp2 NA18998.hp1 NA19007.hp2 NA19065.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0015	a0001c0002 a0001c0003 a0001c0004 others(17): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0020 a0001c0021 a0001c0032 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0017 a0002c0054 a0002c0055 a0005c0025 a0006c0045 a0015c0035	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(33): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0018 a0001c0003t0003 a0001c0003t0007 a0001c0003t0012 a0001c0003t0013 a0001c0004t0002 a0001c0004t0004 a0001c0004t0022 a0001c0008t0001 a0001c0009t0015 a0001c0010t0002 a0001c0020t0021 a0001c0021t0021 a0001c0032t0008 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0049 a0002c0005t0003 a0002c0005t0007 a0002c0005t0009 a0002c0006t0001 a0002c0006t0002 a0002c0007t0002 a0002c0011t0033 a0002c0017t0002 a0002c0017t0020 a0002c0054t0001 a0002c0055t0013 a0005c0025t0002 a0006c0045t0022 a0015c0035t0003	a0001c0002t0001g0044 a0001c0002t0001g0097 a0001c0002t0001g0149 others(51): Show a0001c0002t0001g0044 a0001c0002t0001g0097 a0001c0002t0001g0149 a0001c0002t0001g0185 a0001c0002t0001g0205 a0001c0002t0001g0220 a0001c0002t0002g0022 a0001c0002t0006g0132 a0001c0002t0006g0172 a0001c0002t0006g0252 a0001c0002t0008g0201 a0001c0002t0018g0135 a0001c0003t0003g0088 a0001c0003t0003g0092 a0001c0003t0007g0028 a0001c0003t0007g0087 a0001c0003t0012g0089 a0001c0003t0013g0183 a0001c0004t0002g0029 a0001c0004t0002g0069 a0001c0004t0004g0099 a0001c0004t0022g0189 a0001c0008t0001g0078 a0001c0009t0015g0207 a0001c0010t0002g0139 a0001c0020t0021g0174 a0001c0021t0021g0076 a0001c0021t0021g0077 a0001c0032t0008g0184 a0002c0001t0001g0007 a0002c0001t0001g0049 a0002c0001t0001g0107 a0002c0001t0001g0136 a0002c0001t0001g0144 a0002c0001t0001g0163 a0002c0001t0005g0145 a0002c0001t0006g0020 a0002c0001t0049g0141 a0002c0005t0003g0106 a0002c0005t0007g0105 a0002c0005t0009g0227 a0002c0006t0001g0165 a0002c0006t0002g0052 a0002c0006t0002g0060 a0002c0007t0002g0108 a0002c0007t0002g0112 a0002c0011t0033g0222 a0002c0017t0002g0245 a0002c0017t0020g0249 a0002c0054t0001g0011 a0002c0055t0013g0019 a0005c0025t0002g0247 a0006c0045t0022g0170 a0015c0035t0003g0171	54	252	0.2143	-22	c.260 others(41): Show c.260+27008_260+27029delCCTATCCATCCCATCCATCCAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9487817	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0023 a0001c0001t0035g0023	1	234	0.0043	-22	c.23 others(33): Show c.2338_*2359delGCGCGCACACACACACACACAC	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding		668		chr2	TogoVar
ADAM17_chr2_9483486_9560830	9514518	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG02622.hp2 others(6): Show HG00639.hp2 HG01109.hp2 HG02622.hp2 HG02723.hp2 HG02976.hp1 HG03486.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0001t0012 a0001c0002t0003 others(3): Show a0001c0001t0007 a0001c0001t0012 a0001c0002t0003 a0002c0003t0040 a0002c0003t0043 a0002c0003t0044	a0001c0001t0007g0135 a0001c0001t0012g0110 a0001c0001t0012g0111 others(6): Show a0001c0001t0007g0135 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0012g0113 a0001c0001t0012g0114 a0001c0002t0003g0166 a0002c0003t0040g0054 a0002c0003t0043g0060 a0002c0003t0044g0051	9	234	0.0385	-22	c.119 others(41): Show c.1191+3361_1191+3382delATATATATATATATATATATAT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	10/18			chr2	TogoVar
ADAM18_chr8_39579568_39735065	39637019	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0025 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0025	3	347	0.0087	-22	c.589 others(37): Show c.589-219_589-198delATATATATATATATATATATAT	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM18_chr8_39579568_39735065	39722213	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02622.hp2 HG02630.hp2 others(3): Show HG00733.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0255 a0002c0003t0001g0015 a0002c0003t0001g0016 others(3): Show a0001c0002t0001g0255 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0021	6	347	0.0173	-22	c.201 others(41): Show c.2018-1533_2018-1512delGTGTATATATATATATATATAT	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM18_chr8_39579568_39735065	39722215	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02300.hp2 others(2): Show HG01257.hp2 HG01258.hp2 HG02300.hp2 HG03579.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0006 a0001c0002 a0006c0006	a0001c0002t0001 a0006c0006t0001 a0001c0002t0001 a0006c0006t0001	a0001c0002t0001g0104 a0001c0002t0001g0261 a0001c0002t0001g0262 others(2): Show a0001c0002t0001g0104 a0001c0002t0001g0261 a0001c0002t0001g0262 a0006c0006t0001g0264 a0006c0006t0001g0265	5	347	0.0144	-22	c.201 others(41): Show c.2018-1531_2018-1510delGTATATATATATATATATATAT	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM18_chr8_39579568_39735065	39722217	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01255.hp2 others(2): Show HG01106.hp2 HG01109.hp2 HG01255.hp2 HG01361.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0321 a0001c0002t0001g0026 a0001c0002t0001g0055 others(2): Show a0001c0001t0001g0321 a0001c0002t0001g0026 a0001c0002t0001g0055 a0001c0002t0001g0089 a0001c0002t0001g0138	5	347	0.0144	-22	c.201 others(41): Show c.2018-1507_2018-1486delATATATATATATATATATATAT	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM23_chr2_206438532_206626127	206439630	TATATATA others(15): Show TATATATATATATATAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA19086.hp2 NA18989.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	2	358	0.0056	-22	c.-42 others(33): Show c.-4236_-4215delATATATATATATATAGAGAGAG	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding		3901		chr2	TogoVar
ADAM23_chr2_206438532_206626127	206526169	CACACACA others(15): Show CACACACACACAGACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	358	0.0028	-22	c.510 others(39): Show c.510-4709_510-4688delACACAGACACACACAGACACAC	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM23_chr2_206438532_206626127	206540216	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04184.hp1 HG02486.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0155 a0001c0001t0020g0151 a0001c0001t0001g0155 a0001c0001t0020g0151	2	358	0.0056	-22	c.574 others(39): Show c.574-1804_574-1783delCACACACACACACACACACACA	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM29_chr4_174913358_174983180	174923525	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	330	0.0030	-22	c.-45 others(41): Show c.-451+2748_-451+2769delTATATATATATATATATATATA	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174979262	CACACACA others(15): Show CACACACAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0037 a0001c0016t0002g0037	1	330	0.0030	-22	c.12 others(33): Show c.1275_*1296delACACACAGAGAGAGAGAGAGAG	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding		1083		chr4	TogoVar
ADAM29_chr4_174913358_174983180	174979264	CACACAGA others(15): Show CACACAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	330	0.0030	-22	c.12 others(33): Show c.1277_*1298delACACAGAGAGAGAGAGAGAGAG	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding		1085		chr4	TogoVar
ADAM2_chr8_39738735_39843227	39808189	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	329	0.0030	-22	c.570 others(39): Show c.570+1199_570+1220delGTGTGTGTGTGTGTGTGTGTGT	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	7/20			chr8	TogoVar
ADAM32_chr8_39102734_39289917	39251344	ATCTTTTT others(15): Show ATCTTTTTTTATCAAAAAGATGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02258.hp2 others(17): Show HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0007 a0009 a0011 a0012	a0002c0003 a0003c0004 a0004c0007 others(4): Show a0002c0003 a0003c0004 a0004c0007 a0007c0009 a0009c0010 a0011c0013 a0012c0011	a0002c0003t0001 a0003c0004t0001 a0003c0004t0002 others(5): Show a0002c0003t0001 a0003c0004t0001 a0003c0004t0002 a0004c0007t0001 a0007c0009t0001 a0009c0010t0001 a0011c0013t0001 a0012c0011t0001	a0002c0003t0001g0150 a0003c0004t0001g0133 a0003c0004t0001g0134 others(17): Show a0002c0003t0001g0150 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0138 a0003c0004t0001g0139 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0002g0047 a0004c0007t0001g0153 a0004c0007t0001g0154 a0004c0007t0001g0155 a0004c0007t0001g0244 a0007c0009t0001g0151 a0007c0009t0001g0245 a0009c0010t0001g0077 a0011c0013t0001g0152 a0012c0011t0001g0137	20	257	0.0778	-22	c.190 others(41): Show c.1903-3062_1903-3041delTTATCAAAAAGATGGTCTTTTT	ADAM32	ENSG00000197140.15	transcript	ENST00000379907.9	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM33_chr20_3662975_3687010	3667878	ACCACCAC others(15): Show ACCACCACCCCGCCAACCACCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02886.hp2 others(3): Show HG02622.hp2 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03209.hp2 HG03540.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0021 a0001c0001 a0004c0004 a0006c0021	a0001c0001t0011 a0004c0004t0002 a0004c0004t0011 others(1): Show a0001c0001t0011 a0004c0004t0002 a0004c0004t0011 a0006c0021t0011	a0001c0001t0011g0246 a0004c0004t0002g0146 a0004c0004t0011g0271 others(2): Show a0001c0001t0011g0246 a0004c0004t0002g0146 a0004c0004t0011g0271 a0004c0004t0011g0274 a0006c0021t0011g0028	6	462	0.0130	-22	c.10 others(33): Show c.1063_*1084delGTGGTGGTTGGCGGGGTGGTGG	ADAM33	ENSG00000149451.19	transcript	ENST00000356518.7	protein_coding		96		chr20	TogoVar
ADAM9_chr8_38991973_39110261	39045048	GTATGTGT others(15): Show GTATGTGTGTGTGCATACATACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04184.hp1 HG01243.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0179 a0001c0001t0001g0181	2	332	0.0060	-22	c.130 others(41): Show c.1302+3001_1302+3022delGTGTGTGTGCATACATACATAT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39068675	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01255.hp1 others(31): Show HG00621.hp1 HG00735.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG02132.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03710.hp1 NA18964.hp1 NA18988.hp2 NA19001.hp2 NA19030.hp1 NA19043.hp2 NA19086.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0200 a0001c0001t0001g0212 a0004c0008t0001g0120	34	332	0.1024	-22	c.159 others(41): Show c.1592-2605_1592-2584delAAAAAAAAAAAAAAAAAAAAAA	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33521396	AATATATA others(15): Show AATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01069.hp1 HG01074.hp2 others(32): Show HG00408.hp2 HG01069.hp1 HG01074.hp2 HG01109.hp2 HG01243.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02055.hp2 HG02145.hp1 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18955.hp2 NA18983.hp2 NA19003.hp1 NA19054.hp2 NA19060.hp2 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0015 a0021	a0001c0001 a0001c0003 a0001c0011 others(10): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0004 a0002c0040 a0003c0005 a0004c0007 a0006c0046 a0007c0010 a0009c0038 a0015c0059 a0021c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0003t0003 a0001c0011t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0004t0003 a0002c0040t0003 a0003c0005t0007 a0004c0007t0007 a0006c0046t0001 a0007c0010t0003 a0009c0038t0003 a0015c0059t0003 a0021c0054t0007	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0021 others(32): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0003g0022 a0001c0001t0003g0063 a0001c0001t0003g0104 a0001c0001t0003g0159 a0001c0001t0003g0180 a0001c0001t0023g0103 a0001c0003t0003g0088 a0001c0011t0003g0107 a0002c0002t0002g0100 a0002c0002t0003g0003 a0002c0002t0003g0049 a0002c0002t0003g0096 a0002c0002t0003g0146 a0002c0002t0003g0152 a0002c0002t0018g0002 a0002c0004t0003g0094 a0002c0040t0003g0137 a0003c0005t0007g0040 a0003c0005t0007g0051 a0004c0007t0007g0052 a0004c0007t0007g0132 a0004c0007t0007g0144 a0006c0046t0001g0125 a0007c0010t0003g0127 a0009c0038t0003g0105 a0015c0059t0003g0222 a0021c0054t0007g0174	35	224	0.1563	-22	c.57 others(33): Show c.5770_*5791delATATATATATATATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding		2138		chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33835939	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03927.hp2 others(1): Show HG03098.hp2 HG03225.hp2 HG03927.hp2 NA18906.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0033 a0001c0001 a0026c0033	a0001c0001t0009 a0001c0001t0020 a0026c0033t0001 a0001c0001t0009 a0001c0001t0020 a0026c0033t0001	a0001c0001t0009g0161 a0001c0001t0009g0199 a0001c0001t0020g0033 others(1): Show a0001c0001t0009g0161 a0001c0001t0009g0199 a0001c0001t0020g0033 a0026c0033t0001g0195	4	224	0.0179	-22	c.489 others(41): Show c.489+45158_489+45179delCACACACAGAGAGAGAGAGAGA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33835943	CTCTCTCT others(15): Show CTCTCTCTCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03098.hp1 others(3): Show HG02572.hp1 HG02809.hp1 HG03098.hp1 HG04204.hp2 NA18970.hp2 NA19030.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0005 a0004c0034 others(1): Show a0001c0001 a0003c0005 a0004c0034 a0005c0006	a0001c0001t0004 a0003c0005t0006 a0003c0005t0010 others(3): Show a0001c0001t0004 a0003c0005t0006 a0003c0005t0010 a0004c0034t0025 a0005c0006t0001 a0005c0006t0011	a0001c0001t0004g0080 a0003c0005t0006g0192 a0003c0005t0010g0193 others(3): Show a0001c0001t0004g0080 a0003c0005t0006g0192 a0003c0005t0010g0193 a0004c0034t0025g0194 a0005c0006t0001g0191 a0005c0006t0011g0018	6	224	0.0268	-22	c.489 others(41): Show c.489+45154_489+45175delCACACACACACAGAGAGAGAGA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS14_chr10_70667506_70767441	70688726	GCGTGCCT others(15): Show GCGTGCCTGCAATCGCAGGCATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(62): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG01943.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18946.hp1 NA18960.hp1 NA18966.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18998.hp2 NA19002.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19067.hp1 NA19085.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0017 a0018 a0021 a0022 a0029 a0030	a0001c0002 a0001c0004 a0001c0007 others(33): Show a0001c0002 a0001c0004 a0001c0007 a0001c0018 a0001c0019 a0001c0026 a0001c0027 a0001c0064 a0002c0001 a0003c0003 a0003c0075 a0004c0006 a0004c0010 a0005c0008 a0005c0009 a0007c0013 a0008c0011 a0009c0023 a0009c0050 a0009c0051 a0010c0096 a0012c0029 a0012c0082 a0013c0020 a0014c0030 a0014c0047 a0014c0049 a0015c0080 a0015c0081 a0017c0036 a0018c0091 a0018c0092 a0021c0054 a0022c0072 a0029c0048 a0030c0046	a0001c0002t0002 a0001c0002t0034 a0001c0004t0003 others(41): Show a0001c0002t0002 a0001c0002t0034 a0001c0004t0003 a0001c0007t0037 a0001c0018t0016 a0001c0019t0003 a0001c0019t0009 a0001c0026t0002 a0001c0026t0025 a0001c0027t0004 a0001c0027t0012 a0001c0064t0023 a0002c0001t0005 a0002c0001t0036 a0003c0003t0008 a0003c0075t0016 a0004c0006t0012 a0004c0010t0007 a0004c0010t0025 a0005c0008t0003 a0005c0009t0008 a0007c0013t0001 a0008c0011t0005 a0009c0023t0003 a0009c0050t0015 a0009c0051t0002 a0010c0096t0020 a0012c0029t0008 a0012c0029t0038 a0012c0082t0007 a0013c0020t0002 a0013c0020t0007 a0014c0030t0033 a0014c0047t0059 a0014c0049t0010 a0015c0080t0007 a0015c0081t0046 a0017c0036t0008 a0018c0091t0002 a0018c0092t0004 a0021c0054t0023 a0022c0072t0005 a0029c0048t0001 a0030c0046t0003	a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0034g0216 others(62): Show a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0034g0216 a0001c0004t0003g0219 a0001c0007t0037g0029 a0001c0018t0016g0023 a0001c0019t0003g0122 a0001c0019t0003g0123 a0001c0019t0009g0074 a0001c0026t0002g0327 a0001c0026t0025g0052 a0001c0027t0004g0121 a0001c0027t0004g0124 a0001c0027t0012g0030 a0001c0064t0023g0314 a0002c0001t0005g0021 a0002c0001t0005g0024 a0002c0001t0005g0037 a0002c0001t0005g0055 a0002c0001t0036g0038 a0003c0003t0008g0045 a0003c0003t0008g0048 a0003c0075t0016g0047 a0004c0006t0012g0032 a0004c0010t0007g0025 a0004c0010t0025g0020 a0005c0008t0003g0316 a0005c0008t0003g0317 a0005c0008t0003g0322 a0005c0008t0003g0326 a0005c0008t0003g0329 a0005c0009t0008g0026 a0007c0013t0001g0318 a0007c0013t0001g0320 a0007c0013t0001g0324 a0008c0011t0005g0039 a0008c0011t0005g0040 a0008c0011t0005g0041 a0008c0011t0005g0042 a0008c0011t0005g0043 a0008c0011t0005g0053 a0009c0023t0003g0252 a0009c0023t0003g0254 a0009c0023t0003g0256 a0009c0050t0015g0251 a0009c0051t0002g0259 a0010c0096t0020g0059 a0012c0029t0008g0044 a0012c0029t0008g0046 a0012c0029t0038g0049 a0012c0082t0007g0054 a0013c0020t0002g0120 a0013c0020t0007g0027 a0014c0030t0033g0257 a0014c0047t0059g0253 a0014c0049t0010g0258 a0015c0080t0007g0022 a0015c0081t0046g0346 a0017c0036t0008g0028 a0018c0091t0002g0315 a0018c0092t0004g0335 a0021c0054t0023g0319 a0022c0072t0005g0031 a0029c0048t0001g0255 a0030c0046t0003g0250	65	354	0.1836	-22	c.523 others(41): Show c.523-13583_523-13562delTGCCTGCAATCGCAGGCATTCG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS16_chr5_5135330_5325304	5215870	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01515.hp2 others(1): Show HG01192.hp1 HG01256.hp1 HG01515.hp2 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0023 a0002c0002 a0001c0023 a0002c0002	a0001c0023t0001 a0002c0002t0001 a0002c0002t0005 a0001c0023t0001 a0002c0002t0001 a0002c0002t0005	a0001c0023t0001g0228 a0002c0002t0001g0273 a0002c0002t0001g0314 others(1): Show a0001c0023t0001g0228 a0002c0002t0001g0273 a0002c0002t0001g0314 a0002c0002t0005g0313	4	332	0.0121	-22	c.160 others(41): Show c.1605+6648_1605+6669delATATATATATATATATATATAT	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	99977379	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG02155.hp1 others(4): Show HG00558.hp1 HG00621.hp1 HG02155.hp1 HG02523.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0007 others(2): Show a0001c0002 a0001c0005 a0001c0007 a0001c0017 a0002c0001	a0001c0002t0012 a0001c0005t0002 a0001c0007t0002 others(4): Show a0001c0002t0012 a0001c0005t0002 a0001c0007t0002 a0001c0007t0018 a0001c0017t0002 a0002c0001t0056 a0002c0001t0073	a0001c0002t0012g0106 a0001c0005t0002g0139 a0001c0007t0002g0057 others(4): Show a0001c0002t0012g0106 a0001c0005t0002g0139 a0001c0007t0002g0057 a0001c0007t0018g0045 a0001c0017t0002g0156 a0002c0001t0056g0074 a0002c0001t0073g0227	7	228	0.0307	-22	c.295 others(41): Show c.2950-1179_2950-1158delTTATATATATATATATATATAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	99977390	ATATATAT others(15): Show ATATATATATAATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0027 a0004c0003t0027	a0004c0003t0027g0034 a0004c0003t0027g0034	1	228	0.0044	-22	c.295 others(41): Show c.2950-1190_2950-1169delAAAAAAAAAAATTATATATATA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77285772	CACGTTCT others(15): Show CACGTTCTCCATGCAATCAGCAG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0033 a0002c0057t0033	a0002c0057t0033g0158 a0002c0057t0033g0158	1	326	0.0031	-22	c.355 others(41): Show c.3551-1723_3551-1702delCTGCTGATTGCATGGAGAACGT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	22/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77400434	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0011 a0004c0003t0011	a0004c0003t0011g0155 a0004c0003t0011g0155	1	326	0.0031	-22	c.495 others(41): Show c.495+30839_495+30860delGACACACACACACACACACACA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	3/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77436012	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0210 a0003c0002t0006g0210	1	326	0.0031	-22	c.-13 others(33): Show c.-1339_-1318delCACACACACACACACACACACA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding		979		chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129702957	TATATATA others(15): Show TATATATATATATATACAAATAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp2 NA18947.hp2 others(2): Show HG00597.hp2 HG02056.hp2 NA18947.hp2 NA19063.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0175 a0001c0001t0002g0176 a0002c0002t0002g0059 others(2): Show a0001c0001t0002g0175 a0001c0001t0002g0176 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0078	5	226	0.0221	-22	c.316 others(41): Show c.3160-1271_3160-1250delATATACAAATACATATATATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43514560	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01081.hp2 others(6): Show HG00280.hp1 HG00639.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp1 HG01358.hp1 HG02602.hp2 HG02976.hp1 HG03942.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0004c0006t0001 a0001c0002t0001 a0004c0006t0001	a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 others(6): Show a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0004c0006t0001g0191	9	306	0.0294	-22	c.614 others(41): Show c.614-12177_614-12156delTTTTTTTTTTTTTTTTTTTTTT	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	3/38			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179278076	CCCCCGAG others(15): Show CCCCCGAGACCAAAGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0007 a0004c0039t0007	a0004c0039t0007g0208 a0004c0039t0007g0208	1	276	0.0036	-22	c.535 others(39): Show c.535-5034_535-5013delTGGTCAGCCTTTGGTCTCGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72299053	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0035 a0001c0004t0022g0035	1	182	0.0055	-22	c.242 others(39): Show c.2425-633_2425-612delCACACACACACACACACACACA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	17/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72526733	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00741.hp2 others(39): Show HG00408.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG02004.hp2 HG02027.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG03041.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp2 HG03942.hp1 NA18522.hp2 NA18942.hp2 NA18955.hp1 NA18974.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19063.hp1 NA19067.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0003c0005 a0003c0007 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0003t0001 a0001c0003t0007 a0001c0003t0015 a0001c0011t0001 a0002c0002t0003 a0003c0005t0006 a0003c0007t0006 a0008c0019t0001	a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0099 others(39): Show a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0062 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0178 a0001c0001t0011g0002 a0001c0001t0013g0004 a0001c0003t0001g0168 a0001c0003t0007g0094 a0001c0003t0015g0006 a0001c0011t0001g0081 a0002c0002t0003g0058 a0003c0005t0006g0076 a0003c0007t0006g0165 a0008c0019t0001g0119	42	182	0.2308	-22	c.504 others(41): Show c.504+21723_504+21744delATATATATATATATATATATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72530652	TTATATAT others(15): Show TTATATATATTATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	182	0.0055	-22	c.504 others(41): Show c.504+17804_504+17825delTATATATTATATAATATATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS5_chr21_26912922_26972088	26963641	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18946.hp2 NA19240.hp2 HG02896.hp1 NA18946.hp2 NA19240.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0008 a0005c0007 a0001c0001 a0004c0008 a0005c0007	a0001c0001t0143 a0004c0008t0053 a0005c0007t0082 a0001c0001t0143 a0004c0008t0053 a0005c0007t0082	a0001c0001t0143g0354 a0004c0008t0053g0081 a0005c0007t0082g0066 a0001c0001t0143g0354 a0004c0008t0053g0081 a0005c0007t0082g0066	3	398	0.0075	-22	c.110 others(41): Show c.1104+1625_1104+1646delTTTTTTTTTTTTTTTTTTTTTT	ADAMTS5	ENSG00000154736.6	transcript	ENST00000284987.6	protein_coding	1/7			chr21	TogoVar
ADAMTS6_chr5_65143738_65486920	65302250	CATTATTA others(15): Show CATTATTATATATTAATATCTAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20129.hp1 HG03209.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0002g0121 a0001c0001t0001g0093 a0001c0001t0002g0121	2	204	0.0098	-22	c.122 others(41): Show c.1224-2141_1224-2120delTTAGATATTAATATATAATAAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65398828	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	204	0.0049	-22	c.107 others(43): Show c.1073+52625_1073+52646delTTCTTTCTTTCTTTCTTTCTTT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	7/24			chr5	TogoVar
ADAMTS7_chr15_78754206_78816464	78806121	CACACACA others(15): Show CACACACAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0051 a0051	a0051c0089 a0051c0089	a0051c0089t0001 a0051c0089t0001	a0051c0089t0001g0251 a0051c0089t0001g0251	1	380	0.0026	-22	c.100 others(39): Show c.100+4978_100+4999delTTTTTTTTTTTTTTTTGTGTGT	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	1/23			chr15	TogoVar
ADAMTS8_chr11_130399923_130433609	130431459	TTGGCTAT others(15): Show TTGGCTATGTTAAACCCAGGACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00741.hp1 others(29): Show HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01884.hp2 HG02109.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0014 a0019 a0027	a0001c0001 a0002c0004 a0002c0038 others(7): Show a0001c0001 a0002c0004 a0002c0038 a0002c0039 a0002c0042 a0003c0002 a0006c0007 a0014c0020 a0019c0021 a0027c0041	a0001c0001t0001 a0001c0001t0005 a0002c0004t0010 others(13): Show a0001c0001t0001 a0001c0001t0005 a0002c0004t0010 a0002c0038t0003 a0002c0039t0002 a0002c0042t0003 a0003c0002t0002 a0003c0002t0007 a0003c0002t0008 a0003c0002t0016 a0006c0007t0008 a0006c0007t0013 a0014c0020t0008 a0019c0021t0007 a0019c0021t0008 a0027c0041t0007	a0001c0001t0001g0004 a0001c0001t0005g0021 a0002c0004t0010g0297 others(25): Show a0001c0001t0001g0004 a0001c0001t0005g0021 a0002c0004t0010g0297 a0002c0004t0010g0309 a0002c0038t0003g0186 a0002c0039t0002g0185 a0002c0042t0003g0245 a0003c0002t0002g0041 a0003c0002t0002g0244 a0003c0002t0002g0246 a0003c0002t0007g0045 a0003c0002t0007g0046 a0003c0002t0007g0299 a0003c0002t0007g0306 a0003c0002t0007g0308 a0003c0002t0007g0311 a0003c0002t0008g0307 a0003c0002t0008g0313 a0003c0002t0016g0312 a0006c0007t0008g0301 a0006c0007t0008g0304 a0006c0007t0008g0305 a0006c0007t0013g0144 a0014c0020t0008g0298 a0014c0020t0008g0300 a0019c0021t0007g0302 a0019c0021t0008g0303 a0027c0041t0007g0310	32	424	0.0755	-22	c.-31 others(33): Show c.-3195_-3174delGGTCCTGGGTTTAACATAGCCA	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding		2851		chr11	TogoVar
ADAMTSL1_chr9_18469153_18915950	18756076	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 homoSapiens_chm13v2.hp1 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0015 a0001c0005 a0004c0015	a0001c0005t0002 a0004c0015t0004 a0001c0005t0002 a0004c0015t0004	a0001c0005t0002g0009 a0004c0015t0004g0138 a0001c0005t0002g0009 a0004c0015t0004g0138	2	218	0.0092	-22	c.221 others(41): Show c.2217+2594_2217+2615delTATATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	16/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18838360	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03831.hp1 HG03491.hp1 HG03831.hp1	a0002 a0026 a0002 a0026	a0002c0004 a0026c0032 a0002c0004 a0026c0032	a0002c0004t0008 a0026c0032t0004 a0002c0004t0008 a0026c0032t0004	a0002c0004t0008g0091 a0026c0032t0004g0105 a0002c0004t0008g0091 a0026c0032t0004g0105	2	218	0.0092	-22	c.424 others(41): Show c.4249+8404_4249+8425delACACACACACACACACACACAC	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18886164	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 HG02109.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0045 a0001c0005 a0002c0045	a0001c0005t0002 a0002c0045t0007 a0001c0005t0002 a0002c0045t0007	a0001c0005t0002g0118 a0002c0045t0007g0014 a0001c0005t0002g0118 a0002c0045t0007g0014	2	218	0.0092	-22	c.425 others(41): Show c.4250-1665_4250-1644delGTATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133564365	GGAGAGAG others(15): Show GGAGAGAGAGGGAGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00738.hp1 others(23): Show HG00140.hp1 HG00323.hp1 HG00738.hp1 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG06807.hp2 NA20805.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0011 a0001c0013 others(5): Show a0001c0001 a0001c0011 a0001c0013 a0001c0016 a0001c0021 a0001c0023 a0003c0036 a0007c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0011t0001 a0001c0013t0001 a0001c0016t0001 a0001c0021t0016 a0001c0023t0001 a0003c0036t0001 a0007c0030t0013	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0025 others(23): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0017 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0035 a0001c0001t0004g0079 a0001c0001t0004g0150 a0001c0001t0009g0001 a0001c0011t0001g0029 a0001c0011t0001g0062 a0001c0013t0001g0015 a0001c0016t0001g0087 a0001c0021t0016g0129 a0001c0023t0001g0119 a0003c0036t0001g0113 a0007c0030t0013g0083	26	152	0.1711	-22	c.174 others(41): Show c.1748-2551_1748-2530delGGAGAGAGAGAGGGAGAGAGAG	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADARB1_chr21_45069580_45231560	45073982	TGGCTCGG others(15): Show TGGCTCGGCGGGGGCTCGGCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01081.hp2 others(51): Show HG00280.hp1 HG00423.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG02055.hp1 HG02074.hp2 HG02165.hp1 HG02451.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 a0001c0001t0040 a0001c0001t0052 a0001c0001t0063 a0001c0001t0067 a0001c0001t0078 a0001c0001t0097 a0001c0001t0115 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0017 a0001c0002t0024 a0001c0002t0038 a0001c0002t0054 a0001c0002t0094 a0001c0002t0095 a0001c0002t0121 a0001c0002t0127 a0001c0004t0026 a0001c0004t0029 a0001c0005t0032 a0001c0008t0028	a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0213 others(50): Show a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0213 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0246 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0267 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0003g0125 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0305 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0007g0255 a0001c0001t0007g0268 a0001c0001t0010g0287 a0001c0001t0010g0289 a0001c0001t0011g0270 a0001c0001t0011g0274 a0001c0001t0011g0275 a0001c0001t0012g0106 a0001c0001t0013g0087 a0001c0001t0023g0201 a0001c0001t0040g0200 a0001c0001t0052g0242 a0001c0001t0063g0021 a0001c0001t0067g0284 a0001c0001t0078g0271 a0001c0001t0097g0239 a0001c0001t0115g0124 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0002g0217 a0001c0002t0005g0199 a0001c0002t0017g0007 a0001c0002t0024g0181 a0001c0002t0038g0184 a0001c0002t0054g0118 a0001c0002t0094g0098 a0001c0002t0095g0032 a0001c0002t0121g0190 a0001c0002t0127g0185 a0001c0004t0026g0103 a0001c0004t0029g0099 a0001c0005t0032g0102 a0001c0008t0028g0100 a0001c0008t0028g0101	54	350	0.1543	-22	c.-10 others(33): Show c.-1030_-1009delGGCTCGGCGGGGGCTCGGCGGG	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding		597		chr21	TogoVar
ADARB1_chr21_45069580_45231560	45191868	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0093 a0001c0013t0093	a0001c0013t0093g0034 a0001c0013t0093g0034	1	350	0.0029	-22	c.156 others(41): Show c.1565+6779_1565+6800delATATATATATATTTTTTTTTTT	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1236435	GCCATGAC others(15): Show GCCATGACCCAGGTGGGGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02040.hp1 HG03669.hp2 HG00639.hp1 HG02040.hp1 HG03669.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0010 a0001c0001 a0002c0002 a0009c0010	a0001c0001t0031 a0002c0002t0007 a0009c0010t0006 a0001c0001t0031 a0002c0002t0007 a0009c0010t0006	a0001c0001t0031g0059 a0002c0002t0007g0004 a0009c0010t0006g0014 a0001c0001t0031g0059 a0002c0002t0007g0004 a0009c0010t0006g0014	3	106	0.0283	-22	c.136 others(41): Show c.1362-2612_1362-2591delTCCCGCCCCACCTGGGTCATGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240248	CCCTCTGC others(15): Show CCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	106	0.0094	-22	c.136 others(41): Show c.1361+1861_1361+1882delAGTAAACACCGGGAGGCAGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1292983	AGAGAGAG others(15): Show AGAGAGAGGGAGAGGGAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01934.hp2 HG02027.hp1 others(10): Show HG01433.hp2 HG01934.hp2 HG02027.hp1 HG02080.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG04184.hp2 NA18967.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0035 a0001c0001t0054 others(8): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0054 a0001c0001t0056 a0001c0001t0059 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0043 a0002c0002t0064	a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0035g0079 others(10): Show a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0035g0079 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0059g0092 a0002c0002t0002g0066 a0002c0002t0002g0075 a0002c0002t0004g0095 a0002c0002t0006g0019 a0002c0002t0008g0047 a0002c0002t0043g0053 a0002c0002t0064g0100	13	106	0.1226	-22	c.107 others(43): Show c.1078-21936_1078-21915delCTTCCCTCCCTCTCCCTCTCTC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1298720	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02717.hp2 others(3): Show HG02080.hp2 HG02109.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0018 a0001c0001t0022 a0001c0001t0056 others(3): Show a0001c0001t0018 a0001c0001t0022 a0001c0001t0056 a0001c0003t0032 a0001c0003t0039 a0002c0002t0004	a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0056g0081 others(3): Show a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0056g0081 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0004g0095	6	106	0.0566	-22	c.107 others(43): Show c.1078-27673_1078-27652delAAAAAAAAAAAAAAAAAAAAAA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)