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
ALK_chr2_29187774_29926586	29785912	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01123.hp1 others(9): Show HG00323.hp1 HG01074.hp1 HG01123.hp1 HG01433.hp2 HG01891.hp1 HG02486.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 NA18969.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0004 a0001c0006 a0001c0009 others(9): Show a0001c0004 a0001c0006 a0001c0009 a0001c0037 a0001c0038 a0002c0007 a0002c0011 a0002c0018 a0003c0005 a0003c0015 a0006c0029 a0007c0044	a0001c0004t0001 a0001c0006t0001 a0001c0009t0005 others(9): Show a0001c0004t0001 a0001c0006t0001 a0001c0009t0005 a0001c0037t0005 a0001c0038t0001 a0002c0007t0001 a0002c0011t0001 a0002c0018t0001 a0003c0005t0002 a0003c0015t0002 a0006c0029t0001 a0007c0044t0012	a0001c0004t0001g0037 a0001c0006t0001g0036 a0001c0009t0005g0054 others(9): Show a0001c0004t0001g0037 a0001c0006t0001g0036 a0001c0009t0005g0054 a0001c0037t0005g0028 a0001c0038t0001g0035 a0002c0007t0001g0064 a0002c0011t0001g0051 a0002c0018t0001g0008 a0003c0005t0002g0032 a0003c0015t0002g0010 a0006c0029t0001g0016 a0007c0044t0012g0077	12	80	0.1500	-18	c.668 others(37): Show c.668-68233_668-68216delGTGTGTGTGTGTGTGTGT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29830955	AAAGAAGA others(11): Show AAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03139.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0023 a0004c0002 a0001c0023 a0004c0002	a0001c0023t0010 a0004c0002t0003 a0001c0023t0010 a0004c0002t0003	a0001c0023t0010g0076 a0004c0002t0003g0025 a0001c0023t0010g0076 a0004c0002t0003g0025	2	80	0.0250	-18	c.667 others(37): Show c.667+89020_667+89037delCTTCTTCTTCTTCTTCTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831223	GGAAGAAG others(11): Show GGAAGAAGAAGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	80	0.0125	-18	c.667 others(37): Show c.667+88752_667+88769delTTCTTCCTCTTCTTCTTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831259	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG01109.hp1 HG02109.hp2	a0002 a0002	a0002c0001 a0002c0036 a0002c0001 a0002c0036	a0002c0001t0001 a0002c0036t0015 a0002c0001t0001 a0002c0036t0015	a0002c0001t0001g0027 a0002c0036t0015g0080 a0002c0001t0001g0027 a0002c0036t0015g0080	2	80	0.0250	-18	c.667 others(37): Show c.667+88716_667+88733delTTCTTCTTCTTCTTCTTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29889695	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02004.hp1 HG03453.hp1 others(1): Show HG01106.hp1 HG02004.hp1 HG03453.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0053 a0002c0001 a0004c0002 a0001c0053 a0002c0001 a0004c0002	a0001c0053t0001 a0002c0001t0001 a0004c0002t0003 a0001c0053t0001 a0002c0001t0001 a0004c0002t0003	a0001c0053t0001g0070 a0002c0001t0001g0033 a0004c0002t0003g0057 others(1): Show a0001c0053t0001g0070 a0002c0001t0001g0033 a0004c0002t0003g0057 a0004c0002t0003g0058	4	80	0.0500	-18	c.667 others(37): Show c.667+30280_667+30297delCTCTCTCTCTCTCTCTCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690420	CCCCTTCC others(11): Show CCCCTTCCCCTCCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG03195.hp2 others(2): Show HG02717.hp1 HG02886.hp1 HG03195.hp2 HG03209.hp1 NA18906.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0009 a0007c0008 a0002c0002 a0002c0009 a0007c0008	a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 a0007c0008t0002 a0007c0008t0003	a0002c0002t0001g0160 a0002c0002t0002g0237 a0002c0009t0002g0013 others(2): Show a0002c0002t0001g0160 a0002c0002t0002g0237 a0002c0009t0002g0013 a0007c0008t0002g0207 a0007c0008t0003g0259	5	274	0.0183	-18	c.512 others(35): Show c.512-5293_512-5276delTTCCCCTCCCCCCCTCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73392260	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show HG00642.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02293.hp1 HG02300.hp1 NA18966.hp1 NA19079.hp1 NA19081.hp1	a0005 a0005	a0005c0005 a0005c0058 a0005c0005 a0005c0058	a0005c0005t0001 a0005c0058t0001 a0005c0005t0001 a0005c0058t0001	a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(8): Show a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110	11	248	0.0444	-18	c.324 others(35): Show c.324+6088_324+6105delGTGTGTGTGTGTGTGTGT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73474393	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0035 a0045 a0035 a0045	a0035c0050 a0045c0063 a0035c0050 a0045c0063	a0035c0050t0001 a0045c0063t0001 a0035c0050t0001 a0045c0063t0001	a0035c0050t0001g0246 a0045c0063t0001g0191 a0035c0050t0001g0246 a0045c0063t0001g0191	2	248	0.0081	-18	c.767 others(39): Show c.7675-15239_7675-15222delGTGTGTGTGTGTGTGTCT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73568995	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0035 a0035	a0035c0050 a0035c0050	a0035c0050t0001 a0035c0050t0001	a0035c0050t0001g0246 a0035c0050t0001g0246	1	248	0.0040	-18	c.103 others(39): Show c.10385-3247_10385-3230delTTTTTTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107958	AAAGGAAG others(11): Show AAAGGAAGGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	422	0.0024	-18	c.168 others(35): Show c.1684+492_1684+509delCTCTCTCTCTCCTTCCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK2_chr18_58476247_58634091	58479064	ATATATAT others(11): Show ATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG02258.hp2 HG01099.hp2 HG01109.hp1 HG02258.hp2	a0047 a0053 a0063 a0047 a0053 a0063	a0047c0064 a0053c0074 a0063c0081 a0047c0064 a0053c0074 a0063c0081	a0047c0064t0001 a0053c0074t0001 a0063c0081t0005 a0047c0064t0001 a0053c0074t0001 a0063c0081t0005	a0047c0064t0001g0250 a0053c0074t0001g0162 a0063c0081t0005g0269 a0047c0064t0001g0250 a0053c0074t0001g0162 a0063c0081t0005g0269	3	320	0.0094	-18	c.27 others(29): Show c.2741_*2758delCATATATATATATATATA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2182		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58557701	TTTATATT others(11): Show TTTATATTTTGTCATTGGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG02145.hp2 others(1): Show HG01081.hp1 HG02109.hp2 HG02145.hp2 HG03195.hp1	a0004 a0007 a0023 a0004 a0007 a0023	a0004c0004 a0007c0007 a0023c0026 a0004c0004 a0007c0007 a0023c0026	a0004c0004t0003 a0004c0004t0011 a0007c0007t0011 others(1): Show a0004c0004t0003 a0004c0004t0011 a0007c0007t0011 a0023c0026t0017	a0004c0004t0003g0253 a0004c0004t0011g0094 a0007c0007t0011g0113 others(1): Show a0004c0004t0003g0253 a0004c0004t0011g0094 a0007c0007t0011g0113 a0023c0026t0017g0064	4	320	0.0125	-18	c.196 others(39): Show c.1963-19495_1963-19478delTCCAATGACAAAATATAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58573344	ATGTATAT others(11): Show ATGTATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0021 a0021	a0021c0073 a0021c0073	a0021c0073t0001 a0021c0073t0001	a0021c0073t0001g0168 a0021c0073t0001g0168	1	320	0.0031	-18	c.196 others(37): Show c.1962+5452_1962+5469delCACACATATATATATACA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
AMBP_chr9_114055127_114083300	114073451	TTAGCCAG others(11): Show TTAGCCAGGATGGTCTCAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(154): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0002g0010 a0001c0001t0002g0104 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0002t0001g0224 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0004t0001g0306 a0002c0003t0001g0056 a0002c0003t0001g0261 a0002c0003t0001g0262	157	454	0.3458	-18	c.455 others(33): Show c.455-443_455-426delTTGAGACCATCCTGGCTA	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	4/9			chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46436637	CAAAACAA others(11): Show CAAAACAAAAACAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0010 a0001c0003t0004g0011	8	160	0.0500	-18	c.263 others(37): Show c.2633-1618_2633-1601delTGTTTTTGTTTTTGTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	12/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46530277	GCACACAG others(11): Show GCACACAGCACGCTCTACA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02004.hp2 HG01496.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0072 a0001c0001t0001g0079	2	160	0.0125	-18	c.207 others(39): Show c.2072+11650_2072+11667delTGTAGAGCGTGCTGTGTG	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585681	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	160	0.0063	-18	c.-12 others(37): Show c.-121+8129_-121+8146delATATTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01261.hp1 others(12): Show HG00735.hp2 HG01109.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG02895.hp1 HG03017.hp1 HG03098.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp2 HG04115.hp1 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0010 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0004t0001 a0003c0010t0002 a0004c0006t0001	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0071 others(12): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0005g0001 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0004t0001g0055 a0003c0010t0002g0149 a0004c0006t0001g0089	15	160	0.0938	-18	c.-18 others(29): Show c.-1846_-1829delTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding		1513		chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95946576	GCTCCCCC others(11): Show GCTCCCCCTCCCCCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01256.hp1 others(4): Show HG00733.hp2 HG01106.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG03540.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 others(4): Show a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0074 a0002c0003t0001g0082 a0002c0003t0001g0113 a0002c0003t0001g0114	7	404	0.0173	-18	c.137 others(35): Show c.137+3089_137+3106delCCTCCCCCTCCCCCTCCC	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2520290	GTCACGTG others(11): Show GTCACGTGGGCTGGCTCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00741.hp2 others(12): Show HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01257.hp2 HG02559.hp1 HG02602.hp1 HG03704.hp1 NA18943.hp2 NA18979.hp1 NA19066.hp1 NA19070.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0068	15	318	0.0472	-18	c.-16 others(27): Show c.-168_-151delTCACGTGGGCTGGCTCGA	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		80		chr16	TogoVar
AMH_chr19_2244323_2257073	2250000	ACGACGCA others(11): Show ACGACGCAGGGCTCGGGGC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18961.hp2 NA18967.hp2 others(2): Show NA18953.hp2 NA18961.hp2 NA18967.hp2 NA18971.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0006 a0001c0005t0001g0006 a0001c0001t0001g0006 a0001c0005t0001g0006	5	432	0.0116	-18	c.412 others(33): Show c.412+258_412+275delGACGCAGGGCTCGGGGCC	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AMIGO1_chr1_109499178_109514727	109511253	AAAAAAGA others(11): Show AAAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-18	c.-19 others(29): Show c.-1939_-1922delCTTTCTTTCTTTCTTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		1527		chr1	TogoVar
AMMECR1L_chr2_127856630_127890956	127857851	CGGTCCCT others(11): Show CGGTCCCTCCCAAGGCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA19074.hp2 HG00621.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	-18	c.72 others(29): Show c.7225_*7242delATGGCCTTGGGAGGGACC	AMMECR1L	ENSG00000144233.12	transcript	ENST00000272647.10	protein_coding		3778		chr2	TogoVar
AMOTL1_chr11_94763356_94881748	94767193	TCTAAGTT others(11): Show TCTAAGTTTCTTTTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0209 a0001c0001t0044g0209	1	246	0.0041	-18	c.-13 others(29): Show c.-1318_-1301delCTAAGTTTCTTTTGTGTG	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding		1162		chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94871205	AAGCCTCC others(11): Show AAGCCTCCAGGAAATCTTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0136 a0001c0001t0035g0136	1	246	0.0041	-18	c.41 others(27): Show c.413_*430delCCTCCAGGAAATCTTGAG	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	13/13	413	INFO_REALIGN_3_PRIME	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10450268	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0204 a0001c0001t0020g0204	1	390	0.0026	-18	c.-51 others(29): Show c.-5185_-5168delTGTGTGTGTGTGTGTGTA	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding		4995		chr11	TogoVar
AMPH_chr7_38378704_38636373	38390961	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01361.hp2 NA18906.hp2 others(2): Show HG01070.hp1 HG01361.hp2 NA18906.hp2 NA18974.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0018 a0001c0001 a0007c0018	a0001c0001t0003 a0007c0018t0004 a0001c0001t0003 a0007c0018t0004	a0001c0001t0003g0016 a0001c0001t0003g0030 a0001c0001t0003g0052 others(2): Show a0001c0001t0003g0016 a0001c0001t0003g0030 a0001c0001t0003g0052 a0001c0001t0003g0142 a0007c0018t0004g0140	5	288	0.0174	-18	c.187 others(35): Show c.1878+769_1878+786delCTCTCTCTCTCTCTCTCT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38406731	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0257 a0001c0005t0001g0257	1	288	0.0035	-18	c.139 others(39): Show c.1398+11076_1398+11093delAGAGAGAGAGAGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38441835	CATATATC others(11): Show CATATATCATATATATCAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02109.hp1 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0166 a0001c0005t0001g0120 a0001c0005t0001g0166	2	288	0.0069	-18	c.101 others(37): Show c.1018-5465_1018-5448delATGATATATATGATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38469153	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01257.hp1 others(5): Show HG00140.hp2 HG01168.hp1 HG01257.hp1 HG01515.hp1 HG02698.hp2 HG02738.hp1 HG03688.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0002 a0001c0012t0005 a0001c0001t0001 a0001c0002t0002 a0001c0012t0005	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0097 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0002t0002g0267 a0001c0012t0005g0107	8	288	0.0278	-18	c.591 others(35): Show c.591-2923_591-2906delTTTTTTTTTTTTTTTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	7/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38571522	ATAAAATA others(11): Show ATAAAATATATATATTCTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	288	0.0035	-18	c.70- others(35): Show c.70-36529_70-36512delCAGAATATATATATTTTA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMTN_chr4_70513569_70537743	70516344	ATATATAT others(11): Show ATATATATACATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00733.hp2 others(40): Show HG00423.hp1 HG00642.hp1 HG00733.hp2 HG01109.hp2 HG01257.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02735.hp1 HG02922.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03831.hp2 HG04199.hp1 NA18943.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18963.hp1 NA18965.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19010.hp2 NA19011.hp2 NA19059.hp1 NA19072.hp2 NA19075.hp1 NA19080.hp2 NA19085.hp1 NA20129.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0011c0013 a0002c0003 a0011c0013	a0002c0003t0001 a0002c0003t0005 a0011c0013t0001 a0002c0003t0001 a0002c0003t0005 a0011c0013t0001	a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0010 others(14): Show a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0005g0004 a0011c0013t0001g0008	43	458	0.0939	-18	c.-23 others(29): Show c.-2325_-2308delTATATATACATATATATG	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2224		chr4	TogoVar
AMTN_chr4_70513569_70537743	70521640	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(114): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19062.hp1 NA19065.hp1 NA19067.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0002 a0008c0012 a0009c0010 a0001c0002 a0008c0012 a0009c0010	a0001c0002t0001 a0008c0012t0001 a0009c0010t0001 a0001c0002t0001 a0008c0012t0001 a0009c0010t0001	a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 others(22): Show a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0008c0012t0001g0001 a0009c0010t0001g0068	117	458	0.2555	-18	c.55- others(33): Show c.55-1096_55-1079delTTTTTTTTTTTTTTTTTT	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
AMY2B_chr1_103566589_103584534	103569396	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	408	0.0025	-18	c.-22 others(29): Show c.-2206_-2189delTGTGTGTGTGTGTGTGTG	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding		2192		chr1	TogoVar
ANAPC10_chr4_144989576_145103196	145026979	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	336	0.0030	-18	c.328 others(37): Show c.328-31394_328-31377delAAAAAAAAAATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026981	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	336	0.0030	-18	c.328 others(37): Show c.328-31396_328-31379delAAAAAAAAAAAATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145036995	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	336	0.0030	-18	c.327 others(37): Show c.327+27559_327+27576delACACACACACACACACAC	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145037022	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	336	0.0030	-18	c.327 others(37): Show c.327+27532_327+27549delTACACACACACACACACA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145054604	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp2 HG02451.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0335 a0001c0001t0001g0336	2	336	0.0060	-18	c.327 others(35): Show c.327+9950_327+9967delACACACACACACACACAC	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145054624	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01261.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	336	0.0060	-18	c.327 others(35): Show c.327+9930_327+9947delGCACACACACACACACAC	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC13_chr3_134472706_134490985	134490183	AAAAAAAA others(11): Show AAAAAAAACACAAATATGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	-18	c.-42 others(29): Show c.-4277_-4260delGCATATTTGTGTTTTTTT	ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding		4199		chr3	TogoVar
ANAPC16_chr10_72211012_72240860	72218159	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01496.hp2 others(1): Show HG01257.hp1 HG01258.hp2 HG01496.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0184 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0237	4	352	0.0114	-18	c.-28 others(35): Show c.-28+2023_-28+2040delAAAAAATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218161	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01993.hp2 HG02040.hp1 others(6): Show HG01433.hp1 HG01993.hp2 HG02040.hp1 HG02109.hp1 HG02735.hp1 HG02886.hp2 NA18973.hp1 NA19055.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0001g0169 a0001c0001t0001g0170 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0220 a0001c0001t0002g0072 a0001c0001t0002g0297 a0001c0001t0002g0333	9	352	0.0256	-18	c.-28 others(35): Show c.-28+2025_-28+2042delAAAATATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218163	AAAATATA others(11): Show AAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01258.hp1 others(6): Show HG00738.hp2 HG01099.hp1 HG01258.hp1 HG02132.hp1 HG02165.hp1 NA18977.hp1 NA18978.hp2 NA19084.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0153 a0001c0001t0002g0009 a0001c0001t0002g0283 others(5): Show a0001c0001t0001g0153 a0001c0001t0002g0009 a0001c0001t0002g0283 a0001c0001t0002g0309 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0007g0154 a0001c0001t0008g0067	9	352	0.0256	-18	c.-28 others(35): Show c.-28+2027_-28+2044delAATATATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218165	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG02698.hp1 others(3): Show HG00735.hp2 HG01192.hp2 HG02698.hp1 NA18948.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0136 a0001c0001t0001g0210 a0001c0001t0002g0274 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0210 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0312 a0001c0002t0004g0327	6	352	0.0171	-18	c.-28 others(35): Show c.-28+2064_-28+2081delATATATATATATATATAT	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111864329	AGATGATG others(11): Show AGATGATGATGATGATGAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG06807.hp2 others(1): Show HG01243.hp1 HG02922.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0007 a0001c0012t0002 a0001c0010t0007 a0001c0012t0002	a0001c0010t0007g0311 a0001c0010t0007g0312 a0001c0010t0007g0313 others(1): Show a0001c0010t0007g0311 a0001c0010t0007g0312 a0001c0010t0007g0313 a0001c0012t0002g0309	4	370	0.0108	-18	c.832 others(33): Show c.832-452_832-435delATCATCATCATCATCATC	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	8/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111885035	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00558.hp2 others(24): Show HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02165.hp2 HG02602.hp1 HG02602.hp2 HG03239.hp1 HG03669.hp2 HG04115.hp2 NA18612.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA19078.hp1 NA20805.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0006c0021 a0007c0020	a0001c0001t0001 a0001c0002t0002 a0001c0006t0005 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0005 a0001c0006t0013 a0006c0021t0005 a0007c0020t0005	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0002t0002g0191 others(24): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0002t0002g0191 a0001c0002t0002g0207 a0001c0006t0005g0006 a0001c0006t0005g0007 a0001c0006t0005g0010 a0001c0006t0005g0011 a0001c0006t0005g0012 a0001c0006t0005g0015 a0001c0006t0005g0017 a0001c0006t0005g0018 a0001c0006t0005g0019 a0001c0006t0005g0020 a0001c0006t0005g0021 a0001c0006t0005g0022 a0001c0006t0005g0023 a0001c0006t0005g0024 a0001c0006t0005g0025 a0001c0006t0005g0026 a0001c0006t0005g0027 a0001c0006t0005g0028 a0001c0006t0005g0029 a0001c0006t0005g0032 a0001c0006t0013g0016 a0006c0021t0005g0014 a0007c0020t0005g0009	27	370	0.0730	-18	c.-11 others(29): Show c.-1136_-1119delCACACACACACACACACA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		843		chr2	TogoVar
ANAPC7_chr12_110367900_110408708	110368308	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG03098.hp2 HG02615.hp1 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0070 a0001c0001t0001g0265 a0001c0001t0001g0267	3	298	0.0101	-18	c.58 others(29): Show c.5818_*5835delTTTTTTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding		4591		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387269	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	298	0.0034	-18	c.674 others(33): Show c.674+452_674+469delGTCTCTCTCTCTCTCTCT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107293197	GTGATGAT others(11): Show GTGATGATGATGATGATGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp1 others(68): Show HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp2 HG02735.hp1 HG02886.hp2 HG03239.hp2 HG03471.hp1 HG03669.hp1 HG03834.hp2 HG03927.hp2 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp2 NA18977.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0034 a0001c0001t0002g0121 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0005g0253 a0001c0001t0007g0256 a0001c0001t0008g0011 a0001c0001t0008g0101 a0001c0001t0008g0104 a0001c0001t0008g0144 a0001c0001t0008g0275 a0001c0001t0009g0102 a0001c0001t0009g0274 a0001c0001t0009g0280 a0001c0001t0009g0281 a0001c0001t0014g0142 a0001c0001t0014g0160 a0001c0001t0016g0062 a0001c0001t0017g0002 a0001c0001t0023g0176 a0001c0001t0024g0037	71	292	0.2432	-18	c.103 others(35): Show c.1038+721_1038+738delTCATCATCATCATCATCA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	6/8			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)