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
ADAMTS2_chr5_179105853_179350461	179299530	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0061 a0006c0061	a0006c0061t0003 a0006c0061t0003	a0006c0061t0003g0039 a0006c0061t0003g0039	1	276	0.0036	24	c.535 others(43): Show c.535-26490_535-26467dupGTGTGTGTGTGTGTGTGTGTGTGT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72416172	A A	AATATAAA others(17): Show AATATAAATATATATACATATATGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(2): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02647.hp2 HG02809.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0002c0009 a0003c0005 others(1): Show a0002c0002 a0002c0009 a0003c0005 a0007c0013	a0002c0002t0001 a0002c0009t0001 a0003c0005t0024 others(1): Show a0002c0002t0001 a0002c0009t0001 a0003c0005t0024 a0007c0013t0001	a0002c0002t0001g0087 a0002c0009t0001g0084 a0002c0009t0001g0085 others(2): Show a0002c0002t0001g0087 a0002c0009t0001g0084 a0002c0009t0001g0085 a0003c0005t0024g0023 a0007c0013t0001g0088	5	182	0.0275	24	c.505 others(41): Show c.505-1202_505-1201insACATATATGTATATATATTTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72417931	T T	TTAAAAAA others(17): Show TTAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp1 NA20300.hp1 HG02486.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0005g0010 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0005g0010	3	182	0.0165	24	c.505 others(41): Show c.505-2961_505-2960insTTTTTTTTTTTTTTTTTTTTTTTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72450966	A A	AGGCAAAA others(17): Show AGGCAAAAAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02080.hp1 HG02559.hp2 others(5): Show HG01167.hp1 HG02080.hp1 HG02559.hp2 HG03041.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0007 a0002c0002t0001	a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0171 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0171 a0001c0001t0002g0025 a0001c0001t0003g0026 a0001c0001t0007g0082 a0001c0003t0007g0094 a0002c0002t0001g0101	8	182	0.0440	24	c.505 others(43): Show c.505-35996_505-35995insCTCTTCTCTTCTCTTCTTTTTGCC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550008	A A	AAGGAGAA others(17): Show AAGGAGAAGGAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	182	0.0055	24	c.98- others(39): Show c.98-1125_98-1124insCCTTCTCCTTCTCCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550011	A A	AAGGAGAA others(17): Show AAGGAGAAGGAGAAGGAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	182	0.0055	24	c.98- others(39): Show c.98-1128_98-1127insCCTTCTCCTCCTTCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550014	A A	AAGGAGAA others(17): Show AAGGAGAAGGAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02071.hp2 HG02559.hp1 HG01081.hp1 HG02071.hp2 HG02559.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0001 a0001c0003t0004 a0004c0010t0003 a0001c0001t0001 a0001c0003t0004 a0004c0010t0003	a0001c0001t0001g0106 a0001c0003t0004g0159 a0004c0010t0003g0039 a0001c0001t0001g0106 a0001c0003t0004g0159 a0004c0010t0003g0039	3	182	0.0165	24	c.98- others(39): Show c.98-1131_98-1130insCCTTCTCCTTCTCCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550020	A A	AAGGAGAA others(17): Show AAGGAGAAGGAGAAGGAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG02451.hp1 HG02965.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0002 a0006c0016t0021 a0001c0001t0002 a0006c0016t0021	a0001c0001t0002g0030 a0006c0016t0021g0029 a0001c0001t0002g0030 a0006c0016t0021g0029	2	182	0.0110	24	c.98- others(39): Show c.98-1137_98-1136insCCTTCTCCTCCTTCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00735.hp1 others(33): Show HG00597.hp1 HG00597.hp2 HG00735.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG02071.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG04184.hp1 NA18939.hp2 NA18940.hp1 NA18945.hp2 NA18959.hp2 NA18963.hp2 NA18972.hp1 NA18974.hp1 NA18985.hp1 NA18985.hp2 NA19009.hp2 NA19012.hp1 NA19068.hp2 NA19080.hp2 NA19082.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0004c0005 a0006c0008	a0001c0001t0006 a0001c0001t0024 a0001c0001t0025 others(15): Show a0001c0001t0006 a0001c0001t0024 a0001c0001t0025 a0001c0001t0045 a0001c0001t0134 a0001c0001t0135 a0001c0001t0138 a0001c0002t0014 a0001c0002t0015 a0001c0002t0056 a0001c0002t0057 a0001c0002t0137 a0001c0002t0175 a0001c0002t0184 a0003c0004t0068 a0004c0005t0101 a0004c0005t0136 a0006c0008t0006	a0001c0001t0006g0006 a0001c0001t0006g0141 a0001c0001t0024g0013 others(20): Show a0001c0001t0006g0006 a0001c0001t0006g0141 a0001c0001t0024g0013 a0001c0001t0025g0014 a0001c0001t0045g0029 a0001c0001t0134g0098 a0001c0001t0135g0099 a0001c0001t0138g0100 a0001c0002t0014g0018 a0001c0002t0014g0173 a0001c0002t0015g0040 a0001c0002t0015g0201 a0001c0002t0015g0209 a0001c0002t0056g0193 a0001c0002t0056g0208 a0001c0002t0057g0039 a0001c0002t0137g0224 a0001c0002t0175g0170 a0001c0002t0184g0184 a0003c0004t0068g0214 a0004c0005t0101g0058 a0004c0005t0136g0059 a0006c0008t0006g0134	36	374	0.0963	24	c.22 others(35): Show c.2231_*2254dupATATATATATATATATATATATAT	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2254		chr1	TogoVar
ADAMTS7_chr15_78754206_78816464	78768023	C C	CTGGGGGT others(17): Show CTGGGGGTGGGGAGTTGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02572.hp1 NA18906.hp2 others(4): Show HG01433.hp2 HG02572.hp1 NA18906.hp2 NA18942.hp2 NA19012.hp2 NA19067.hp2 NA19077.hp1	a0002 a0014 a0049 others(1): Show a0002 a0014 a0049 a0062	a0002c0001 a0002c0068 a0014c0016 others(2): Show a0002c0001 a0002c0068 a0014c0016 a0049c0087 a0062c0073	a0002c0001t0001 a0002c0068t0001 a0014c0016t0002 others(2): Show a0002c0001t0001 a0002c0068t0001 a0014c0016t0002 a0049c0087t0002 a0062c0073t0002	a0002c0001t0001g0069 a0002c0001t0001g0086 a0002c0001t0001g0237 others(4): Show a0002c0001t0001g0069 a0002c0001t0001g0086 a0002c0001t0001g0237 a0002c0068t0001g0095 a0014c0016t0002g0295 a0049c0087t0002g0049 a0062c0073t0002g0105	7	380	0.0184	24	c.264 others(40): Show c.2645+86_2645+109dupTCCCCCGCCAACTCCCCACCCCCA	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	17/23			chr15	TogoVar
ADAMTS9_chr3_64510654_64693000	64517416	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	286	0.0035	24	c.6- others(37): Show c.6-296_*6-295insAAAAAAAAAAAAAAAAAAAAAAAA	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	39/39			chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64661303	A A	ACCAGTTG others(17): Show ACCAGTTGAACTTTCAATATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp2 others(55): Show HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG01123.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02523.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18747.hp2 NA18950.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18971.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp2 NA19082.hp2 NA19084.hp1 NA20300.hp2	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0006 a0007 a0014 a0016 a0019 a0022 a0023 a0024 a0025 a0029	a0001c0001 a0001c0014 a0001c0030 others(15): Show a0001c0001 a0001c0014 a0001c0030 a0001c0045 a0001c0051 a0002c0002 a0005c0008 a0006c0010 a0007c0011 a0014c0041 a0014c0054 a0016c0016 a0019c0040 a0022c0036 a0023c0039 a0024c0038 a0025c0033 a0029c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0001 a0001c0030t0001 a0001c0045t0001 a0001c0051t0018 a0002c0002t0001 a0002c0002t0003 a0002c0002t0013 a0005c0008t0002 a0005c0008t0003 a0006c0010t0001 a0007c0011t0004 a0014c0041t0001 a0014c0054t0001 a0016c0016t0003 a0019c0040t0002 a0022c0036t0002 a0023c0039t0002 a0024c0038t0004 a0025c0033t0003 a0029c0032t0001	a0001c0001t0001g0114 a0001c0001t0001g0163 a0001c0001t0001g0167 others(55): Show a0001c0001t0001g0114 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0217 a0001c0001t0002g0228 a0001c0001t0002g0273 a0001c0001t0002g0281 a0001c0001t0003g0262 a0001c0014t0001g0115 a0001c0030t0001g0180 a0001c0045t0001g0068 a0001c0051t0018g0268 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0003g0074 a0002c0002t0003g0165 a0002c0002t0003g0185 a0002c0002t0003g0190 a0002c0002t0003g0260 a0002c0002t0013g0016 a0005c0008t0002g0188 a0005c0008t0003g0192 a0006c0010t0001g0264 a0006c0010t0001g0265 a0007c0011t0004g0179 a0014c0041t0001g0280 a0014c0054t0001g0283 a0016c0016t0003g0048 a0016c0016t0003g0049 a0019c0040t0002g0148 a0022c0036t0002g0214 a0023c0039t0002g0146 a0024c0038t0004g0174 a0025c0033t0003g0261 a0029c0032t0001g0259	58	286	0.2028	24	c.680 others(41): Show c.680-2513_680-2512insCATATATATTGAAAGTTCAACTGG	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/39			chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64692855	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	286	0.0035	24	c.-51 others(35): Show c.-5199_-5198insGTGTGTGTGTGTGTGTGTGTGTGT	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding		4856		chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG04199.hp1 HG02717.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0057 a0002c0001 a0001c0057 a0002c0001	a0001c0057t0002 a0002c0001t0004 a0001c0057t0002 a0002c0001t0004	a0001c0057t0002g0001 a0002c0001t0004g0036 a0001c0057t0002g0001 a0002c0001t0004g0036	2	218	0.0092	24	c.64- others(39): Show c.64-1388_64-1387insTATATATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(13): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG01081.hp1 HG01175.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG02698.hp2 HG02965.hp1 NA18984.hp2 NA18988.hp2 NA19004.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0007 others(7): Show a0001c0003 a0001c0005 a0001c0007 a0001c0023 a0001c0024 a0001c0039 a0001c0040 a0001c0051 a0002c0001 a0002c0036	a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 others(10): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 a0001c0005t0007 a0001c0007t0001 a0001c0023t0001 a0001c0024t0001 a0001c0039t0001 a0001c0040t0003 a0001c0051t0005 a0002c0001t0001 a0002c0001t0002 a0002c0036t0001	a0001c0003t0001g0146 a0001c0003t0001g0173 a0001c0003t0003g0164 others(13): Show a0001c0003t0001g0146 a0001c0003t0001g0173 a0001c0003t0003g0164 a0001c0003t0015g0191 a0001c0005t0007g0214 a0001c0005t0007g0215 a0001c0007t0001g0172 a0001c0007t0001g0188 a0001c0023t0001g0175 a0001c0024t0001g0174 a0001c0039t0001g0206 a0001c0040t0003g0024 a0001c0051t0005g0189 a0002c0001t0001g0023 a0002c0001t0002g0190 a0002c0036t0001g0136	16	218	0.0734	24	c.64- others(39): Show c.64-1407_64-1406insGTATATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0148 a0001c0049t0001g0148	1	218	0.0046	24	c.64- others(39): Show c.64-1407_64-1406insGTGTATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0065 a0001c0006t0001g0065	1	218	0.0046	24	c.157 others(43): Show c.1574+3890_1574+3891insAAAATATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18703701	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03927.hp2 NA18970.hp1 others(1): Show HG02027.hp1 HG03927.hp2 NA18970.hp1 NA18971.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0016 a0002c0018 others(1): Show a0001c0002 a0002c0016 a0002c0018 a0003c0011	a0001c0002t0004 a0002c0016t0006 a0002c0018t0004 others(1): Show a0001c0002t0004 a0002c0016t0006 a0002c0018t0004 a0003c0011t0021	a0001c0002t0004g0085 a0002c0016t0006g0193 a0002c0018t0004g0075 others(1): Show a0001c0002t0004g0085 a0002c0016t0006g0193 a0002c0018t0004g0075 a0003c0011t0021g0204	4	218	0.0184	24	c.157 others(43): Show c.1575-3035_1575-3012dupATATATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18756076	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0069 a0001c0008t0002g0069	1	218	0.0046	24	c.221 others(43): Show c.2217+2592_2217+2615dupTATATATATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	16/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18866116	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01167.hp2 others(11): Show HG00408.hp2 HG01081.hp1 HG01167.hp2 HG02015.hp2 HG02040.hp2 HG02451.hp2 HG03704.hp2 HG06807.hp1 NA18944.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA19057.hp1 NA19062.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0014 a0015 a0028	a0001c0002 a0001c0003 a0001c0005 others(8): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001 a0002c0004 a0002c0035 a0003c0011 a0003c0020 a0014c0046 a0015c0062 a0028c0082	a0001c0002t0002 a0001c0002t0030 a0001c0003t0001 others(10): Show a0001c0002t0002 a0001c0002t0030 a0001c0003t0001 a0001c0005t0002 a0002c0001t0002 a0002c0001t0003 a0002c0004t0001 a0002c0035t0002 a0003c0011t0002 a0003c0020t0002 a0014c0046t0002 a0015c0062t0002 a0028c0082t0004	a0001c0002t0002g0131 a0001c0002t0030g0083 a0001c0003t0001g0181 others(11): Show a0001c0002t0002g0131 a0001c0002t0030g0083 a0001c0003t0001g0181 a0001c0003t0001g0196 a0001c0005t0002g0187 a0002c0001t0002g0190 a0002c0001t0003g0192 a0002c0004t0001g0099 a0002c0035t0002g0147 a0003c0011t0002g0166 a0003c0020t0002g0197 a0014c0046t0002g0202 a0015c0062t0002g0088 a0028c0082t0004g0003	14	218	0.0642	24	c.425 others(45): Show c.4250-21701_4250-21700insAAAAAAAAAAAAAAAAAAAAAAAA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(17): Show CATATATACACACATATATACATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02486.hp1 NA18951.hp1 others(3): Show HG00423.hp1 HG02486.hp1 NA18951.hp1 NA18962.hp1 NA19058.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(3): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0221 a0002c0008t0001g0115	6	274	0.0219	24	c.69+ others(41): Show c.69+18943_69+18944insCACACATATATACATATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83801651	A A	AATATAAA others(17): Show AATATAAATATAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0149 a0003c0003t0001g0149	1	274	0.0037	24	c.318 others(41): Show c.318-2994_318-2993insAATATAAATATATATATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83801651	A A	AATATAAA others(17): Show AATATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02074.hp1 HG03654.hp2 others(1): Show HG01346.hp1 HG02074.hp1 HG03654.hp2 HG06807.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0008 a0002c0016 others(1): Show a0002c0002 a0002c0008 a0002c0016 a0006c0006	a0002c0002t0001 a0002c0008t0001 a0002c0016t0001 others(1): Show a0002c0002t0001 a0002c0008t0001 a0002c0016t0001 a0006c0006t0001	a0002c0002t0001g0162 a0002c0008t0001g0239 a0002c0016t0001g0126 others(1): Show a0002c0002t0001g0162 a0002c0008t0001g0239 a0002c0016t0001g0126 a0006c0006t0001g0109	4	274	0.0146	24	c.318 others(41): Show c.318-2994_318-2993insAATATATATATATATATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83872598	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0032 a0005c0005t0002g0032	1	274	0.0037	24	c.960 others(41): Show c.960+1646_960+1669dupCACACACACACACACACACACACA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83872627	C C	CACACACA others(17): Show CACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0129 a0002c0008t0001g0129	1	274	0.0037	24	c.960 others(41): Show c.960+1669_960+1670insCACACACACACACACACACACAGA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83872627	C C	CACACACA others(17): Show CACACACACACACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0031 a0031	a0031c0063 a0031c0063	a0031c0063t0011 a0031c0063t0011	a0031c0063t0011g0057 a0031c0063t0011g0057	1	274	0.0037	24	c.960 others(41): Show c.960+1669_960+1670insCACACACACACACACACACAGAGA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83872627	C C	CACACACA others(17): Show CACACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02109.hp1 HG02723.hp2	a0034 a0039 a0034 a0039	a0034c0050 a0039c0053 a0034c0050 a0039c0053	a0034c0050t0001 a0039c0053t0001 a0034c0050t0001 a0039c0053t0001	a0034c0050t0001g0003 a0039c0053t0001g0244 a0034c0050t0001g0003 a0039c0053t0001g0244	2	274	0.0073	24	c.960 others(41): Show c.960+1669_960+1670insCACACACACACACACACAGAGAGA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83988867	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0031 a0031	a0031c0063 a0031c0063	a0031c0063t0011 a0031c0063t0011	a0031c0063t0011g0057 a0031c0063t0011g0057	1	274	0.0037	24	c.384 others(39): Show c.3844+72_3844+73insATTTATTTATTTATTTATTTATTT	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	22/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAP1_chr7_892900_959680	897668	G G	GGGGGGCA others(17): Show GGGGGGCACCTGGGGAAGGGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	14	0.0714	24	c.12 others(35): Show c.1252_*1253insAGCACCCCTTCCCCAGGTGCCCCC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding		231		chr7	TogoVar
ADARB1_chr21_45069580_45231560	45074598	T T	TGGCGGCG others(17): Show TGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01123.hp2 others(5): Show HG00738.hp1 HG01106.hp1 HG01123.hp2 HG02080.hp2 HG02523.hp2 HG03704.hp2 NA19063.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0001t0042 a0001c0002t0043 others(2): Show a0001c0001t0041 a0001c0001t0042 a0001c0002t0043 a0001c0002t0124 a0001c0002t0126	a0001c0001t0041g0204 a0001c0001t0041g0231 a0001c0001t0042g0182 others(5): Show a0001c0001t0041g0204 a0001c0001t0041g0231 a0001c0001t0042g0182 a0001c0001t0042g0193 a0001c0002t0043g0177 a0001c0002t0043g0197 a0001c0002t0124g0186 a0001c0002t0126g0191	8	350	0.0229	24	c.-41 others(33): Show c.-414_-391dupGGCGGCGGCGGCGGCGGCGGCGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	1/11	97034	INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1237304	C C	CCCTCCCG others(17): Show CCCTCCCGGTGTTTACTCCCCTCTG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0007	1	106	0.0094	24	c.136 others(43): Show c.1362-3460_1362-3459insCAGAGGGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237496	G G	GTCTCCCG others(17): Show GTCTCCCGGTGTTTACTCCCCTCTC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	106	0.0094	24	c.136 others(43): Show c.1362-3652_1362-3651insGAGAGGGGAGTAAACACCGGGAGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237857	C C	CCTCCCGG others(17): Show CCTCCCGGTGTTTACTCCCCTCTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0014 a0009c0010t0006g0014	1	106	0.0094	24	c.136 others(43): Show c.1362-4013_1362-4012insACAGAGGGGAGTAAACACCGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237953	C C	CCTCCCGG others(17): Show CCTCCCGGTGTTCACTCCCCTCTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0004 a0002c0002t0007g0004	1	106	0.0094	24	c.136 others(43): Show c.1362-4109_1362-4108insACAGAGGGGAGTGAACACCGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238284	C C	CCTCCCGG others(17): Show CCTCCCGGTGTTTACTCCCCTCTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0049 a0002c0002t0044g0049	1	106	0.0094	24	c.136 others(43): Show c.1361+3846_1361+3847insACAGAGGGGAGTAAACACCGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238332	C C	CCTCCCGG others(17): Show CCTCCCGGTGTTTACTCCCCTCTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0004 a0002c0002t0007g0004	1	106	0.0094	24	c.136 others(43): Show c.1361+3798_1361+3799insACAGAGGGGAGTAAACACCGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1310370	A A	ACTTCATT others(17): Show ACTTCATTGACTCTGAATAACATTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02109.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0003t0001 a0001c0001t0022 a0001c0003t0001	a0001c0001t0022g0015 a0001c0003t0001g0070 a0001c0001t0022g0015 a0001c0003t0001g0070	2	106	0.0189	24	c.107 others(45): Show c.1078-39325_1078-39302dupGAATGTTATTCAGAGTCAATGAAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1510110	C C	CTCTCTCT others(17): Show CTCTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0014 a0005c0015t0014	a0005c0015t0014g0008 a0005c0015t0014g0008	1	106	0.0094	24	c.101 others(45): Show c.101-130951_101-130950insAAGAAAGAAAGAAAGAAAGAGAGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1510110	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02027.hp1 HG00438.hp2 HG02027.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0064 a0003c0006t0067 a0002c0002t0064 a0003c0006t0067	a0002c0002t0064g0100 a0003c0006t0067g0080 a0002c0002t0064g0100 a0003c0006t0067g0080	2	106	0.0189	24	c.101 others(45): Show c.101-130974_101-130951dupAAGAAAGAAAGAAAGAAAGAAAGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 HG02083.hp2 others(2): Show HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02257.hp1 HG03540.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0009 a0001c0001 a0002c0002 a0010c0009	a0001c0001t0011 a0001c0001t0049 a0002c0002t0005 others(2): Show a0001c0001t0011 a0001c0001t0049 a0002c0002t0005 a0002c0002t0041 a0010c0009t0024	a0001c0001t0011g0017 a0001c0001t0049g0040 a0002c0002t0005g0012 others(2): Show a0001c0001t0011g0017 a0001c0001t0049g0040 a0002c0002t0005g0012 a0002c0002t0041g0074 a0010c0009t0024g0016	5	106	0.0472	24	c.101 others(45): Show c.101-135019_101-135018insATATATATATATATATATATATAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1516513	G G	GCTGCTCT others(17): Show GCTGCTCTGTGCTGTGTGGGCTGCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	106	0.0094	24	c.101 others(45): Show c.101-137377_101-137354dupAGCAGCCCACACAGCACAGAGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1544956	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 NA18967.hp1 HG02040.hp2 HG02080.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0006 a0002c0002t0041 a0001c0001t0011 a0002c0002t0006 a0002c0002t0041	a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0041g0074 a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0041g0074	3	106	0.0283	24	c.101 others(45): Show c.101-165820_101-165797dupGTGTGTGTGTGTGTGTGTGTGTGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1544956	T T	TATACACA others(17): Show TATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01884.hp1 others(9): Show HG00408.hp1 HG00639.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02622.hp2 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19011.hp2 NA19070.hp1 NA20129.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0002c0014 others(1): Show a0001c0001 a0002c0002 a0002c0014 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0022 a0002c0002t0002 a0002c0002t0004 a0002c0002t0038 a0002c0014t0008 a0009c0010t0006	a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0003g0085 others(9): Show a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0015g0005 a0001c0001t0022g0015 a0002c0002t0002g0050 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0038g0048 a0002c0014t0008g0060 a0009c0010t0006g0014	12	106	0.1132	24	c.101 others(45): Show c.101-165797_101-165796insGTGTGTGTGTGTGTGTGTGTGTAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1608774	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03041.hp1 HG01433.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0032 a0001c0001t0003 a0001c0003t0032	a0001c0001t0003g0097 a0001c0003t0032g0071 a0001c0001t0003g0097 a0001c0003t0032g0071	2	106	0.0189	24	c.100 others(45): Show c.100+128253_100+128276dupTTCTTTCTTTCTTTCTTTCTTTCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0104 a0004c0005t0012g0104	1	348	0.0029	24	c.-17 others(35): Show c.-1753_-1752insAAAATATATATATATATATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0100 a0004c0005t0050g0100	1	348	0.0029	24	c.-17 others(35): Show c.-1753_-1752insAAAAAAAAAATATATATATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT2_chr6_143417832_143455695	143425733	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18999.hp1 NA19059.hp2 NA18968.hp2 NA18999.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0078 a0001c0001t0180 a0001c0001t0058 a0001c0001t0078 a0001c0001t0180	a0001c0001t0058g0110 a0001c0001t0078g0086 a0001c0001t0180g0264 a0001c0001t0058g0110 a0001c0001t0078g0086 a0001c0001t0180g0264	3	322	0.0093	24	c.27 others(35): Show c.2706_*2729dupCACACACACACACACACACACACA	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6	2729		chr6	TogoVar
ADAT2_chr6_143417832_143455695	143427096	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01243.hp1 others(19): Show HG00099.hp2 HG01069.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp1 HG02040.hp2 HG02280.hp2 HG03017.hp1 HG03942.hp2 HG04204.hp1 NA18939.hp2 NA18948.hp1 NA18975.hp1 NA18985.hp1 NA18997.hp1 NA19003.hp2 NA19011.hp2 NA19043.hp1 NA19059.hp2 NA19062.hp2 NA19068.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0019 others(9): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0053 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083	a0001c0001t0005g0002 a0001c0001t0005g0065 a0001c0001t0005g0105 others(13): Show a0001c0001t0005g0002 a0001c0001t0005g0065 a0001c0001t0005g0105 a0001c0001t0018g0015 a0001c0001t0018g0097 a0001c0001t0019g0016 a0001c0001t0019g0099 a0001c0001t0030g0014 a0001c0001t0053g0098 a0001c0001t0077g0126 a0001c0001t0078g0086 a0001c0001t0079g0127 a0001c0001t0080g0140 a0001c0001t0081g0128 a0001c0001t0082g0129 a0001c0001t0083g0094	22	322	0.0683	24	c.13 others(35): Show c.1343_*1366dupGTGTGTGTGTGTGTGTGTGTGTGT	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6	1366		chr6	TogoVar
ADAT3_chr19_1900399_1918447	1906866	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	442	0.0023	24	c.-15 others(43): Show c.-159+1450_-159+1451insGTGTGTGTGTGTGTGTGTGTGTGT	ADAT3	ENSG00000213638.6	transcript	ENST00000329478.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADCK1_chr14_77795109_77940014	77816881	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	286	0.0035	24	c.-11 others(41): Show c.-11-2086_-11-2085insAATATATATATATATATATATATA	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)