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
ALLC_chr2_3653200_3707671	3668566	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0012 a0002c0005t0002g0012	1	274	0.0037	10	c.-62 others(27): Show c.-62-2512_-62-2503dupTTTTTTTTTT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690342	C C	CCCCCTCC others(3): Show CCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02257.hp2 others(3): Show HG01243.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG03486.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0021 a0003c0003t0002g0029 a0003c0003t0002g0031 others(3): Show a0003c0003t0002g0021 a0003c0003t0002g0029 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0171 a0003c0003t0002g0179	6	274	0.0219	10	c.512 others(27): Show c.512-5371_512-5370insTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690343	C C	CCCTCCCC others(3): Show CCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0239 a0003c0003t0002g0239	1	274	0.0037	10	c.512 others(27): Show c.512-5372_512-5371insTCCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690402	C C	CCCCCTCC others(3): Show CCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0010 a0003c0003t0002g0010	2	274	0.0073	10	c.512 others(27): Show c.512-5311_512-5310insTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3704585	A A	AGGGGCGT others(3): Show AGGGGCGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01358.hp2 HG03516.hp2 others(1): Show HG00544.hp2 HG01358.hp2 HG03516.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0002g0019 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0002g0019 a0001c0001t0002g0216	4	274	0.0146	10	c.20 others(21): Show c.2022_*2023insGGGGCGTGGG	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1915		chr2	TogoVar
ALLC_chr2_3653200_3707671	3704592	T T	TGGGGGGC others(3): Show TGGGGGGCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02083.hp1 HG01993.hp2 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0061 a0002c0002t0001g0230 a0001c0001t0001g0061 a0002c0002t0001g0230	2	274	0.0073	10	c.20 others(21): Show c.2029_*2030insGGGGGGCGTG	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1922		chr2	TogoVar
ALLC_chr2_3653200_3707671	3704606	G G	GGCGTGGG others(3): Show GGCGTGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	274	0.0037	10	c.20 others(21): Show c.2043_*2044insGCGTGGGGGA	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1936		chr2	TogoVar
ALMS1_chr2_73380836_73614916	73391294	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp1 HG01884.hp2 others(15): Show HG01099.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG02055.hp2 HG02145.hp1 HG02300.hp1 HG02572.hp2 HG02622.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp1 HG04199.hp2	a0004 a0005 a0006 others(6): Show a0004 a0005 a0006 a0012 a0017 a0020 a0026 a0035 a0038	a0004c0003 a0005c0005 a0006c0007 others(7): Show a0004c0003 a0005c0005 a0006c0007 a0006c0010 a0012c0012 a0017c0017 a0020c0019 a0026c0057 a0035c0050 a0038c0051	a0004c0003t0002 a0005c0005t0001 a0006c0007t0001 others(7): Show a0004c0003t0002 a0005c0005t0001 a0006c0007t0001 a0006c0010t0001 a0012c0012t0001 a0017c0017t0003 a0020c0019t0002 a0026c0057t0001 a0035c0050t0001 a0038c0051t0001	a0004c0003t0002g0091 a0005c0005t0001g0106 a0005c0005t0001g0107 others(15): Show a0004c0003t0002g0091 a0005c0005t0001g0106 a0005c0005t0001g0107 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0012c0012t0001g0209 a0017c0017t0003g0225 a0020c0019t0002g0090 a0026c0057t0001g0105 a0035c0050t0001g0246 a0038c0051t0001g0210	18	248	0.0726	10	c.324 others(27): Show c.324+5110_324+5119dupTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73394992	A A	ATATATAT others(3): Show ATATATATGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0033 a0033	a0033c0055 a0033c0055	a0033c0055t0001 a0033c0055t0001	a0033c0055t0001g0201 a0033c0055t0001g0201	1	248	0.0040	10	c.324 others(27): Show c.324+8807_324+8808insGTGTATATAT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73395038	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG02055.hp1 others(19): Show HG00735.hp1 HG01361.hp1 HG02055.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG06807.hp2 NA19030.hp1 NA20300.hp1	a0002 a0008 a0011 others(4): Show a0002 a0008 a0011 a0012 a0027 a0028 a0046	a0002c0020 a0002c0023 a0002c0040 others(8): Show a0002c0020 a0002c0023 a0002c0040 a0008c0008 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0027c0032 a0028c0033 a0046c0065	a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 others(8): Show a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0008c0008t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0027c0032t0001 a0028c0033t0001 a0046c0065t0001	a0002c0020t0001g0207 a0002c0023t0001g0195 a0002c0023t0001g0196 others(19): Show a0002c0020t0001g0207 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0027c0032t0001g0236 a0028c0033t0001g0238 a0046c0065t0001g0205	22	248	0.0887	10	c.324 others(27): Show c.324+8849_324+8850insATATATATGT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73396303	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0028 a0003c0002t0001g0028	1	248	0.0040	10	c.324 others(29): Show c.324+10138_324+10147dupACACACACAC	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73404899	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02622.hp1 others(6): Show HG01109.hp1 HG02486.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03453.hp1 NA20129.hp2	a0002 a0008 a0011 a0002 a0008 a0011	a0002c0004 a0002c0023 a0002c0054 others(4): Show a0002c0004 a0002c0023 a0002c0054 a0008c0008 a0011c0022 a0011c0024 a0011c0048	a0002c0004t0001 a0002c0023t0001 a0002c0054t0001 others(4): Show a0002c0004t0001 a0002c0023t0001 a0002c0054t0001 a0008c0008t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001	a0002c0004t0001g0005 a0002c0004t0001g0052 a0002c0023t0001g0195 others(6): Show a0002c0004t0001g0005 a0002c0004t0001g0052 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0054t0001g0193 a0008c0008t0001g0232 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0048t0001g0197	9	248	0.0363	10	c.325 others(27): Show c.325-3702_325-3693dupTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73458033	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG02622.hp1 others(6): Show HG01243.hp2 HG01261.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG03098.hp1 HG03486.hp1 NA19043.hp2	a0002 a0009 a0011 others(2): Show a0002 a0009 a0011 a0030 a0044	a0002c0052 a0009c0013 a0009c0026 others(3): Show a0002c0052 a0009c0013 a0009c0026 a0011c0048 a0030c0038 a0044c0064	a0002c0052t0001 a0009c0013t0001 a0009c0026t0001 others(3): Show a0002c0052t0001 a0009c0013t0001 a0009c0026t0001 a0011c0048t0001 a0030c0038t0001 a0044c0064t0001	a0002c0052t0001g0040 a0009c0013t0001g0240 a0009c0013t0001g0244 others(6): Show a0002c0052t0001g0040 a0009c0013t0001g0240 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0048t0001g0197 a0030c0038t0001g0055 a0044c0064t0001g0049	9	248	0.0363	10	c.767 others(29): Show c.7674+2749_7674+2758dupAAAAAAAAAA	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73474403	G G	GTGTGTGT others(3): Show GTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0033 a0002c0004t0001g0239 a0002c0004t0001g0033 a0002c0004t0001g0239	2	248	0.0081	10	c.767 others(31): Show c.7675-15224_7675-15223insGTCTGTGTGT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73474411	C C	CTGTGTCT others(3): Show CTGTGTCTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02451.hp2 HG03654.hp1 HG01975.hp2 HG02451.hp2 HG03654.hp1	a0001 a0028 a0001 a0028	a0001c0001 a0028c0033 a0001c0001 a0028c0033	a0001c0001t0001 a0028c0033t0001 a0001c0001t0001 a0028c0033t0001	a0001c0001t0001g0138 a0001c0001t0001g0146 a0028c0033t0001g0238 a0001c0001t0001g0138 a0001c0001t0001g0146 a0028c0033t0001g0238	3	248	0.0121	10	c.767 others(31): Show c.7675-15222_7675-15221insGTGTCTGTGT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73515768	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02895.hp1 others(3): Show HG02572.hp1 HG02615.hp2 HG02895.hp1 HG03471.hp1 NA18906.hp1 NA19058.hp1	a0008 a0010 a0012 others(1): Show a0008 a0010 a0012 a0037	a0008c0008 a0010c0009 a0012c0012 others(1): Show a0008c0008 a0010c0009 a0012c0012 a0037c0044	a0008c0008t0001 a0010c0009t0001 a0012c0012t0001 others(1): Show a0008c0008t0001 a0010c0009t0001 a0012c0012t0001 a0037c0044t0002	a0008c0008t0001g0234 a0010c0009t0001g0168 a0010c0009t0001g0184 others(3): Show a0008c0008t0001g0234 a0010c0009t0001g0168 a0010c0009t0001g0184 a0010c0009t0001g0185 a0012c0012t0001g0203 a0037c0044t0002g0079	6	248	0.0242	10	c.954 others(29): Show c.9540-3979_9540-3970dupCACACACACA	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73579063	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG02071.hp2 others(21): Show HG01106.hp2 HG01361.hp1 HG02071.hp2 HG02572.hp1 HG02698.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 NA18906.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18969.hp2 NA18971.hp2 NA18985.hp2 NA18994.hp2 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19074.hp2 NA20905.hp2	a0002 a0003 a0010 others(4): Show a0002 a0003 a0010 a0012 a0022 a0041 a0046	a0002c0023 a0003c0002 a0010c0009 others(4): Show a0002c0023 a0003c0002 a0010c0009 a0012c0012 a0022c0028 a0041c0035 a0046c0065	a0002c0023t0001 a0003c0002t0001 a0010c0009t0001 others(4): Show a0002c0023t0001 a0003c0002t0001 a0010c0009t0001 a0012c0012t0001 a0022c0028t0001 a0041c0035t0001 a0046c0065t0001	a0002c0023t0001g0196 a0003c0002t0001g0013 a0003c0002t0001g0015 others(21): Show a0002c0023t0001g0196 a0003c0002t0001g0013 a0003c0002t0001g0015 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0024 a0003c0002t0001g0029 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0010c0009t0001g0168 a0010c0009t0001g0185 a0010c0009t0001g0187 a0010c0009t0001g0188 a0012c0012t0001g0202 a0012c0012t0001g0204 a0012c0012t0001g0209 a0022c0028t0001g0009 a0022c0028t0001g0010 a0041c0035t0001g0016 a0046c0065t0001g0205	24	248	0.0968	10	c.115 others(31): Show c.11547+5646_11547+5647insTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73585726	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02071.hp2 HG02257.hp2 others(6): Show HG02055.hp1 HG02071.hp2 HG02257.hp2 HG02572.hp1 HG03927.hp1 NA18944.hp1 NA18985.hp2 NA18989.hp1 NA20300.hp1	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0047	a0002c0020 a0002c0040 a0003c0002 others(2): Show a0002c0020 a0002c0040 a0003c0002 a0010c0009 a0047c0061	a0002c0020t0001 a0002c0040t0001 a0003c0002t0001 others(2): Show a0002c0020t0001 a0002c0040t0001 a0003c0002t0001 a0010c0009t0001 a0047c0061t0001	a0002c0020t0001g0207 a0002c0040t0001g0206 a0003c0002t0001g0013 others(6): Show a0002c0020t0001g0207 a0002c0040t0001g0206 a0003c0002t0001g0013 a0003c0002t0001g0023 a0003c0002t0001g0030 a0003c0002t0001g0061 a0003c0002t0001g0092 a0010c0009t0001g0185 a0047c0061t0001g0183	9	248	0.0363	10	c.115 others(33): Show c.11547+12308_11547+12317dupTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12B_chr17_8067636_8092716	8087247	C C	CACACACA others(3): Show CACACACACAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp1 NA18966.hp1 others(5): Show HG01099.hp1 HG02258.hp1 NA18966.hp1 NA18977.hp1 NA18990.hp2 NA19000.hp1 NA19087.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0266 a0001c0001t0001g0267 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0002g0150 a0001c0001t0002g0151	8	462	0.0173	10	c.147 others(23): Show c.147+48_147+49insCTGTGTGTGT	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	1/14			chr17	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(3): Show CGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp1 HG03710.hp1 others(4): Show HG00673.hp1 HG02027.hp1 HG03710.hp1 NA18967.hp1 NA18978.hp2 NA18983.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0036 a0002c0002t0001g0067 others(1): Show a0002c0002t0001g0021 a0002c0002t0001g0036 a0002c0002t0001g0067 a0002c0002t0001g0080	7	404	0.0173	10	c.141 others(25): Show c.1418+32_1418+33insGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13			chr17	TogoVar
ALOX12_chr17_6991049_7015754	7011459	C C	CTTTCTTT others(3): Show CTTTCTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	404	0.0025	10	c.10 others(21): Show c.1036_*1037insTTTCTTTTTT	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding		706		chr17	TogoVar
ALOX12_chr17_6991049_7015754	7011464	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01257.hp2 others(20): Show HG00741.hp2 HG01070.hp1 HG01257.hp2 HG01496.hp1 HG01884.hp2 HG01975.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 NA18941.hp1 NA18985.hp1 NA19057.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0115 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0150 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0132 a0001c0003t0001g0152 a0001c0003t0002g0163 a0001c0006t0001g0041 a0001c0006t0001g0113 a0001c0006t0001g0129 a0001c0006t0001g0133	23	404	0.0569	10	c.10 others(21): Show c.1041_*1042insTTTTTTTTTT	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding		711		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	470	0.0021	10	c.449 others(25): Show c.449+619_449+620insAAGAAAGAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040653	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	470	0.0021	10	c.449 others(25): Show c.449+671_449+672insGAAAGAAAGA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0025 a0025	a0025c0053 a0025c0053	a0025c0053t0004 a0025c0053t0004	a0025c0053t0004g0254 a0025c0053t0004g0254	1	470	0.0021	10	c.71 others(19): Show c.718_*719insAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(3): Show TAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(46): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01981.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03195.hp2 HG03579.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18963.hp2 NA18969.hp2 NA18977.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19070.hp2 NA19076.hp2 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA21309.hp1	a0001 a0006 a0013 others(3): Show a0001 a0006 a0013 a0015 a0017 a0026	a0001c0005 a0001c0010 a0001c0047 others(7): Show a0001c0005 a0001c0010 a0001c0047 a0006c0011 a0006c0045 a0006c0048 a0013c0015 a0015c0024 a0017c0049 a0026c0027	a0001c0005t0004 a0001c0005t0008 a0001c0005t0015 others(12): Show a0001c0005t0004 a0001c0005t0008 a0001c0005t0015 a0001c0005t0018 a0001c0010t0001 a0001c0047t0004 a0006c0011t0001 a0006c0011t0002 a0006c0045t0001 a0006c0048t0001 a0013c0015t0001 a0015c0024t0004 a0015c0024t0012 a0017c0049t0001 a0026c0027t0001	a0001c0005t0004g0002 a0001c0005t0004g0007 a0001c0005t0004g0014 others(24): Show a0001c0005t0004g0002 a0001c0005t0004g0007 a0001c0005t0004g0014 a0001c0005t0004g0015 a0001c0005t0004g0029 a0001c0005t0004g0043 a0001c0005t0004g0091 a0001c0005t0004g0092 a0001c0005t0008g0002 a0001c0005t0008g0007 a0001c0005t0015g0093 a0001c0005t0018g0094 a0001c0010t0001g0253 a0001c0047t0004g0015 a0006c0011t0001g0074 a0006c0011t0001g0107 a0006c0011t0001g0255 a0006c0011t0002g0042 a0006c0011t0002g0121 a0006c0045t0001g0120 a0006c0048t0001g0251 a0013c0015t0001g0075 a0013c0015t0001g0086 a0015c0024t0004g0007 a0015c0024t0012g0015 a0017c0049t0001g0245 a0026c0027t0001g0250	49	470	0.1043	10	c.71 others(19): Show c.718_*719insAAAAAAAAAC	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG01891.hp2 others(16): Show HG00438.hp2 HG01361.hp1 HG01891.hp2 HG02165.hp1 HG02258.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp2 NA18940.hp1 NA18956.hp1 NA19002.hp1 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0009 a0023	a0001c0008 a0001c0014 a0002c0002 others(5): Show a0001c0008 a0001c0014 a0002c0002 a0004c0006 a0004c0007 a0008c0013 a0009c0052 a0023c0043	a0001c0008t0001 a0001c0008t0002 a0001c0008t0010 others(8): Show a0001c0008t0001 a0001c0008t0002 a0001c0008t0010 a0001c0014t0001 a0001c0014t0004 a0002c0002t0002 a0004c0006t0017 a0004c0007t0003 a0008c0013t0007 a0009c0052t0002 a0023c0043t0002	a0001c0008t0001g0145 a0001c0008t0001g0238 a0001c0008t0001g0241 others(14): Show a0001c0008t0001g0145 a0001c0008t0001g0238 a0001c0008t0001g0241 a0001c0008t0001g0243 a0001c0008t0001g0244 a0001c0008t0002g0041 a0001c0008t0002g0072 a0001c0008t0010g0240 a0001c0014t0001g0082 a0001c0014t0004g0142 a0002c0002t0002g0008 a0004c0006t0017g0073 a0004c0007t0003g0065 a0004c0007t0003g0215 a0008c0013t0007g0249 a0009c0052t0002g0156 a0023c0043t0002g0020	19	470	0.0404	10	c.17 others(21): Show c.1741_*1742insAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8053538	C C	CTAAGCAG others(3): Show CTAAGCAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0013 a0001c0010t0013	a0001c0010t0013g0054 a0001c0010t0013g0054	1	470	0.0021	10	c.49 others(21): Show c.4973_*4974insTAAGCAGAGT	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		4405		chr17	TogoVar
ALOX5_chr10_45369216_45451117	45409509	G G	GTCTCTCT others(3): Show GTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03654.hp1 HG02886.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0134 a0001c0001t0001g0043 a0001c0001t0001g0134	2	345	0.0058	10	c.432 others(27): Show c.432-2666_432-2657dupCTCTCTCTCT	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8094241	G G	GACACACA others(3): Show GACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03130.hp2 HG03453.hp2 others(3): Show HG02886.hp2 HG03130.hp2 HG03453.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0263 a0001c0002t0001g0334 a0001c0002t0001g0336 others(3): Show a0001c0002t0001g0263 a0001c0002t0001g0334 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0003g0392	6	422	0.0142	10	c.23 others(21): Show c.2385_*2386insGTGTGTGTGT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding		1658		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8094455	G G	GTTTTCTT others(3): Show GTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	422	0.0024	10	c.21 others(21): Show c.2171_*2172insGAAAAGAAAA	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding		1444		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8098006	C C	CAAAGTGC others(3): Show CAAAGTGCTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	422	0.0024	10	c.195 others(29): Show c.1957-1210_1957-1201dupCCAGCACTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	15/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAAGAG others(3): Show GAAAAGAGAGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	422	0.0024	10	c.168 others(27): Show c.1684+502_1684+503insTCTCTCTTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GGAAGGAA others(3): Show GGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	422	0.0024	10	c.168 others(27): Show c.1684+502_1684+503insTCTTTCCTTC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107998	G G	GAAGAGAG others(3): Show GAAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	422	0.0024	10	c.168 others(27): Show c.1684+469_1684+470insTCTCTCTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPI_chr2_232451153_232465753	232465431	T T	TTTTTATT others(3): Show TTTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01069.hp2 HG01071.hp1 others(42): Show HG00609.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01433.hp2 HG01952.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03579.hp2 HG04228.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp2 NA18963.hp1 NA18967.hp2 NA18968.hp2 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA18988.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19086.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0003t0001 a0002c0005t0001 a0005c0010t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0001 a0001c0001t0003g0015 a0001c0001t0007g0002 a0001c0002t0002g0003 a0001c0003t0001g0002 a0002c0005t0001g0001 a0005c0010t0010g0010	45	446	0.1009	10	c.62 others(21): Show c.6285_*6286insTTTTATTTTA	ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding		4679		chr2	TogoVar
ALPK1_chr4_112292369_112447621	112300036	A A	AATAATTC others(3): Show AATAATTCTAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0291 a0002c0002t0009g0291	1	306	0.0033	10	c.-15 others(29): Show c.-153+2569_-153+2578dupTAATTCTAGA	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK1_chr4_112292369_112447621	112349551	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18954.hp2 HG02523.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0209 a0001c0001t0003g0173 a0001c0001t0003g0209	2	306	0.0065	10	c.-10 others(31): Show c.-100-28118_-100-28117insCCCCCCCCCC	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK1_chr4_112292369_112447621	112376841	C C	CTAAGAGA others(3): Show CTAAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp2 HG03209.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0005 a0001c0001t0001 a0001c0011t0005	a0001c0001t0001g0099 a0001c0011t0005g0050 a0001c0001t0001g0099 a0001c0011t0005g0050	2	306	0.0065	10	c.-10 others(27): Show c.-100-834_-100-833insGAGAGAATAA	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK1_chr4_112292369_112447621	112382289	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0036 a0009c0036	a0009c0036t0011 a0009c0036t0011	a0009c0036t0011g0087 a0009c0036t0011g0087	1	306	0.0033	10	c.122 others(23): Show c.122-97_122-88dupTTTTTTTTTT	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK1_chr4_112292369_112447621	112440812	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01257.hp1 others(7): Show HG00099.hp1 HG01081.hp1 HG01257.hp1 HG01358.hp1 HG01496.hp1 HG02615.hp2 HG02698.hp1 HG03491.hp1 HG03540.hp1 NA20129.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0017 a0001c0001 a0003c0003 a0007c0017	a0001c0001t0001 a0003c0003t0005 a0007c0017t0001 a0001c0001t0001 a0003c0003t0005 a0007c0017t0001	a0001c0001t0001g0082 a0001c0001t0001g0124 a0001c0001t0001g0195 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0124 a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0294 a0001c0001t0001g0295 a0003c0003t0005g0084 a0007c0017t0001g0009	10	306	0.0327	10	c.353 others(25): Show c.3539-82_3539-73dupGTGTGTGTGT	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK2_chr18_58476247_58634091	58478629	T T	TATATACA others(3): Show TATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02723.hp1 HG01981.hp1 HG02723.hp1	a0007 a0026 a0007 a0026	a0007c0007 a0026c0043 a0007c0007 a0026c0043	a0007c0007t0008 a0026c0043t0008 a0007c0007t0008 a0026c0043t0008	a0007c0007t0008g0243 a0026c0043t0008g0159 a0007c0007t0008g0243 a0026c0043t0008g0159	2	320	0.0063	10	c.31 others(21): Show c.3193_*3194insGTGTGTATAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2617		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58478629	T T	TATATATA others(3): Show TATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG03471.hp2 others(1): Show HG02630.hp2 HG02886.hp2 HG03471.hp2 HG03486.hp1	a0008 a0024 a0034 a0008 a0024 a0034	a0008c0035 a0024c0025 a0034c0037 a0008c0035 a0024c0025 a0034c0037	a0008c0035t0008 a0024c0025t0014 a0034c0037t0014 a0008c0035t0008 a0024c0025t0014 a0034c0037t0014	a0008c0035t0008g0149 a0024c0025t0014g0109 a0034c0037t0014g0106 others(1): Show a0008c0035t0008g0149 a0024c0025t0014g0109 a0034c0037t0014g0106 a0034c0037t0014g0108	4	320	0.0125	10	c.31 others(21): Show c.3193_*3194insGTGTATATAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2617		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58492146	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19090.hp2 NA19062.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0241 a0002c0002t0001g0238 a0002c0002t0001g0241	2	320	0.0063	10	c.629 others(29): Show c.6296+5893_6296+5902dupGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	12/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58502134	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18989.hp1 HG03098.hp1 NA18989.hp1	a0010 a0032 a0010 a0032	a0010c0010 a0032c0076 a0010c0010 a0032c0076	a0010c0010t0004 a0032c0076t0010 a0010c0010t0004 a0032c0076t0010	a0010c0010t0004g0263 a0032c0076t0010g0114 a0010c0010t0004g0263 a0032c0076t0010g0114	2	320	0.0063	10	c.624 others(29): Show c.6247+1787_6247+1796dupTGTGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	11/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp2 others(32): Show HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01952.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG04199.hp1 NA18945.hp2 NA18960.hp1 NA18963.hp1 NA18971.hp1 NA18983.hp1 NA18991.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19084.hp2 NA19088.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0011 a0013 a0023 a0039 a0055 a0056 a0059	a0001c0001 a0002c0002 a0002c0079 others(9): Show a0001c0001 a0002c0002 a0002c0079 a0003c0003 a0005c0005 a0011c0020 a0013c0009 a0023c0026 a0039c0095 a0055c0090 a0056c0091 a0059c0088	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0079t0001 a0003c0003t0002 a0005c0005t0004 a0011c0020t0003 a0013c0009t0006 a0023c0026t0001 a0039c0095t0001 a0055c0090t0001 a0056c0091t0003 a0059c0088t0012	a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 others(32): Show a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0002g0056 a0001c0001t0003g0223 a0001c0001t0006g0073 a0001c0001t0024g0299 a0002c0002t0001g0126 a0002c0002t0001g0174 a0002c0002t0001g0185 a0002c0002t0001g0215 a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0180 a0002c0002t0004g0121 a0002c0002t0007g0061 a0002c0079t0001g0220 a0003c0003t0002g0028 a0005c0005t0004g0127 a0011c0020t0003g0254 a0013c0009t0006g0016 a0023c0026t0001g0128 a0039c0095t0001g0142 a0055c0090t0001g0132 a0056c0091t0003g0131 a0059c0088t0012g0102	35	320	0.1094	10	c.196 others(31): Show c.1962+14681_1962+14690dupAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02280.hp1 HG02723.hp1 others(12): Show HG02056.hp1 HG02280.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG03195.hp1 HG03471.hp1 HG03927.hp1 HG04228.hp1 NA18944.hp1 NA18949.hp2 NA18965.hp1 NA19003.hp2 NA19066.hp1 NA19080.hp2	a0003 a0004 a0007 others(6): Show a0003 a0004 a0007 a0009 a0020 a0027 a0029 a0030 a0043	a0003c0003 a0004c0004 a0007c0007 others(6): Show a0003c0003 a0004c0004 a0007c0007 a0009c0008 a0020c0019 a0027c0058 a0029c0031 a0030c0030 a0043c0070	a0003c0003t0002 a0003c0003t0003 a0003c0003t0016 others(9): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0016 a0004c0004t0011 a0007c0007t0008 a0009c0008t0002 a0020c0019t0002 a0020c0019t0005 a0027c0058t0012 a0029c0031t0001 a0030c0030t0001 a0043c0070t0002	a0003c0003t0002g0060 a0003c0003t0003g0230 a0003c0003t0003g0255 others(12): Show a0003c0003t0002g0060 a0003c0003t0003g0230 a0003c0003t0003g0255 a0003c0003t0003g0267 a0003c0003t0016g0261 a0003c0003t0016g0286 a0004c0004t0011g0094 a0007c0007t0008g0243 a0009c0008t0002g0054 a0020c0019t0002g0051 a0020c0019t0005g0141 a0027c0058t0012g0093 a0029c0031t0001g0277 a0030c0030t0001g0242 a0043c0070t0002g0039	15	320	0.0469	10	c.196 others(25): Show c.1962+71_1962+80dupGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629561	T T	TCACACAC others(3): Show TCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0012 a0017c0017t0012	a0017c0017t0012g0096 a0017c0017t0012g0096	1	320	0.0031	10	c.-81 others(19): Show c.-819_-818insTGTGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		471		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629563	T T	TCTCACAC others(3): Show TCTCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG03540.hp2 NA18989.hp1 HG00738.hp1 HG03540.hp2 NA18989.hp1	a0006 a0009 a0010 a0006 a0009 a0010	a0006c0039 a0009c0008 a0010c0010 a0006c0039 a0009c0008 a0010c0010	a0006c0039t0008 a0009c0008t0003 a0010c0010t0004 a0006c0039t0008 a0009c0008t0003 a0010c0010t0004	a0006c0039t0008g0120 a0009c0008t0003g0118 a0010c0010t0004g0263 a0006c0039t0008g0120 a0009c0008t0003g0118 a0010c0010t0004g0263	3	320	0.0094	10	c.-82 others(19): Show c.-821_-820insTGTGTGTGAG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		473		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629563	T T	TCTCTCAC others(3): Show TCTCTCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG04228.hp1 HG02735.hp1 HG04228.hp1	a0029 a0056 a0029 a0056	a0029c0031 a0056c0091 a0029c0031 a0056c0091	a0029c0031t0001 a0056c0091t0003 a0029c0031t0001 a0056c0091t0003	a0029c0031t0001g0277 a0056c0091t0003g0131 a0029c0031t0001g0277 a0056c0091t0003g0131	2	320	0.0063	10	c.-82 others(19): Show c.-821_-820insTGTGTGAGAG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		473		chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)