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 (≤).

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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
AGPAT2_chr9_136668143_136692457	136675470	C C	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03927.hp1 NA19066.hp2 HG02071.hp1 HG03927.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0089 a0001c0001t0001g0143 a0001c0001t0001g0037 a0001c0001t0001g0089 a0001c0001t0001g0143	3	374	0.0080	41	c.589 others(56): Show c.589-664_589-663insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675485	A A	AGGCCAGC others(34): Show AGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01256.hp1 NA20300.hp2 HG01123.hp2 HG01256.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0051 a0001c0004t0007g0250 a0001c0004t0007g0051 a0001c0004t0007g0250	3	374	0.0080	41	c.589 others(56): Show c.589-719_589-679dupCCCTCCCTCCCTGCTCCCAGTCCCCAGCCT ACCTGCTGGCC	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675511	G G	GAGCAGGG others(34): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01934.hp2 HG02451.hp1 others(12): Show HG01081.hp2 HG01934.hp2 HG02451.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03516.hp2 HG03688.hp2 NA19005.hp1 NA19065.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0021 a0002c0002t0009	a0001c0001t0002g0023 a0001c0001t0002g0097 a0001c0001t0002g0098 others(10): Show a0001c0001t0002g0023 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0133 a0001c0001t0002g0207 a0001c0001t0002g0261 a0001c0001t0003g0101 a0001c0001t0020g0125 a0001c0001t0021g0198 a0002c0002t0009g0018 a0002c0002t0009g0055	15	374	0.0401	41	c.589 others(56): Show c.589-745_589-705dupGCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675552	C C	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	374	0.0027	41	c.589 others(56): Show c.589-746_589-745insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT5_chr8_6703642_6766503	6707758	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAGAGAAAAGAAAAGGGGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	404	0.0025	41	c.-91 others(50): Show c.-911_-910insAAAAAAAAAAAAAAAAAAAAGAGAAAAGAAAAGGGG AAAAG	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		883		chr8	TogoVar
AGR2_chr7_16786811_16809999	16790263	A A	AGGGGCTC others(34): Show AGGGGCTCCTCACTTCTCAGATGGGGCGGTTGCCAGGCGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	460	0.0022	41	c.26 others(52): Show c.2644_*2645insCTCCGCCTGGCAACCGCCCCATCTGAGAAGTGAG GAGCCCC	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1547		chr7	TogoVar
AHRR_chr5_316714_443285	318238	C C	CTCACCCT others(34): Show CTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02886.hp1 others(3): Show HG01099.hp2 HG01891.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 a0001c0001t0050 a0004c0003t0010	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0013g0154 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0013g0154 a0001c0001t0027g0153 a0001c0001t0050g0155 a0004c0003t0010g0157	6	268	0.0224	41	c.-35 others(52): Show c.-3592_-3591insTCACCCTCCACCTCCCCCCCGCACCCTGCACCTC CCACCCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3475		chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0053 a0003c0004t0053	a0003c0004t0053g0198 a0003c0004t0053g0198	1	268	0.0037	41	c.-10 others(58): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392071	C C	CGCAGGGC others(34): Show CGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0009 a0003c0004t0004g0009	1	268	0.0037	41	c.351 others(60): Show c.351+15355_351+15356insGCAGGGCGATGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
AIFM3_chr22_20962255_20986358	20978653	T T	TTACACCT others(34): Show TTACACCTGAGGGTCTGCTGCTTGAAACCCCACTTCTGGTAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	456	0.0022	41	c.147 others(58): Show c.1478-617_1478-577dupTACACCTGAGGGTCTGCTGCTTGAAACC CCACTTCTGGTAC	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr22	TogoVar
AIG1_chr6_143055889_143346058	143143526	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	204	0.0049	41	c.297 others(58): Show c.297+6536_297+6537insTATATATATATATATATATATATATATA TATATATATATAT	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5			chr6	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0078 a0003c0010t0001g0078	1	442	0.0023	41	c.135 others(56): Show c.135+477_135+478insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	2	442	0.0045	41	c.135 others(56): Show c.135+477_135+478insAAAAAAATATATATATATATATATATATAT ATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK3_chr9_4704556_4746202	4735426	A A	AATATATA others(34): Show AATATATATATACATATATAAATATATACATAGTATATGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0057 a0001c0001t0032 a0001c0001t0057	a0001c0001t0032g0092 a0001c0001t0057g0091 a0001c0001t0032g0092 a0001c0001t0057g0091	2	462	0.0043	41	c.151 others(58): Show c.151+5470_151+5510dupACACATATACTATGTATATATTTATATA TGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AKAIN1_chr18_5137911_5202257	5153360	G G	GATGGATC others(34): Show GATGGATCTAATTTACCAGCTATGAATACCAGTTACAAAGCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02572.hp2 others(1): Show HG01243.hp1 HG02572.hp1 HG02572.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0020 a0002c0002t0019 a0002c0002t0020	a0002c0002t0019g0065 a0002c0002t0019g0091 a0002c0002t0020g0031 a0002c0002t0019g0065 a0002c0002t0019g0091 a0002c0002t0020g0031	4	420	0.0095	41	c.17- others(56): Show c.17-7646_17-7606dupAGCTTTGTAACTGGTATTCATAGCTGGTAA ATTAGATCCAT	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1			chr18	TogoVar
AKAP13_chr15_85375603_85754355	85442480	T T	TTTATATT others(34): Show TTTATATTATATTATATATTATATTATATATTATTATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0294 a0001c0002t0027g0294	1	314	0.0032	41	c.-11 others(60): Show c.-11-43230_-11-43229insTTATATTATATTATATATTATATTAT ATATTATTATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	1/36			chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1588449	T T	TCCCCTTC others(34): Show TCCCCTTCCCTCCCCCCCTCCTTCCCCACCAACCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	151	0.0066	41	c.-33 others(52): Show c.-3340_-3339insCCCCTTCCCTCCCCCCCTCCTTCCCCACCAACCC TTCCCTC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3154		chrX	TogoVar
AKAP6_chr14_32324298_32842684	32361071	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0061 a0003c0005t0002g0061	1	154	0.0065	41	c.-35 others(60): Show c.-35+31663_-35+31664insATATATATATATATATATATATATAT ATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13			chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02572.hp1 HG03688.hp2 HG00140.hp1 HG02572.hp1 HG03688.hp2	a0003 a0006 a0014 a0003 a0006 a0014	a0003c0003 a0006c0008 a0014c0037 a0003c0003 a0006c0008 a0014c0037	a0003c0003t0025 a0006c0008t0016 a0014c0037t0003 a0003c0003t0025 a0006c0008t0016 a0014c0037t0003	a0003c0003t0025g0012 a0006c0008t0016g0043 a0014c0037t0003g0100 a0003c0003t0025g0012 a0006c0008t0016g0043 a0014c0037t0003g0100	3	154	0.0195	41	c.273 others(62): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA20752.hp1 NA18959.hp2 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0032 a0003c0003 a0003c0032	a0003c0003t0002 a0003c0032t0052 a0003c0003t0002 a0003c0032t0052	a0003c0003t0002g0096 a0003c0032t0052g0093 a0003c0003t0002g0096 a0003c0032t0052g0093	2	154	0.0130	41	c.358 others(62): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKIRIN2_chr6_87669860_87707233	87674642	A A	ATATTTAT others(34): Show ATATTTATAAATATATATATATATAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03486.hp2 HG02886.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0048 a0001c0002t0006g0049 a0001c0002t0006g0048 a0001c0002t0006g0049	2	406	0.0049	41	c.95 others(50): Show c.954_*955insATATATATATATATATTTATATATATATATATTTAT AAATA	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding		217		chr6	TogoVar
AKR1A1_chr1_45545826_45575049	45555773	G G	GAACTGAG others(34): Show GAACTGAGATTCAAACCCAGGTCTGCGTAGCCCCACAGCCTA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	352	0.0028	41	c.-7+ others(56): Show c.-7+4624_-7+4664dupAGATTCAAACCCAGGTCTGCGTAGCCCCAC AGCCTAAACTG	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKR1D1_chr7_138071459_138123305	138118822	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAGGGAGGGGAAAGAAAAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG03195.hp1 others(3): Show HG02622.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0035 a0001c0001t0063 others(1): Show a0001c0001t0027 a0001c0001t0035 a0001c0001t0063 a0001c0002t0028	a0001c0001t0027g0345 a0001c0001t0027g0346 a0001c0001t0035g0348 others(3): Show a0001c0001t0027g0345 a0001c0001t0027g0346 a0001c0001t0035g0348 a0001c0001t0063g0260 a0001c0002t0028g0217 a0001c0002t0028g0248	6	426	0.0141	41	c.21 others(52): Show c.2160_*2161insAGGGAGGGAGGGAGGGAGGGGAAAGAAAAAGGAA GGAAGGA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding		518		chr7	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	360	0.0028	41	c.51 others(52): Show c.5192_*5193insAGATATAGATATATATATATATATATATATATAT ATATATT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAATATCT others(34): Show AAATATCTATATATATATATATATATATATATATATATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0286	1	360	0.0028	41	c.51 others(52): Show c.5192_*5193insATAGATATATATATATATATATATATATATATAT AGATATT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(34): Show CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	274	0.0037	41	c.512 others(58): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8097774	G G	GTCTCGCA others(34): Show GTCTCGCACTGTCGCCCAGGTTGGAGTGCAGTGGCGCGATCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0264 a0001c0001t0008g0264	1	422	0.0024	41	c.195 others(59): Show c.1957-1009_1957-969dupAGATCGCGCCACTGCACTCCAACCTGG GCGACAGTGCGAGA	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	15/15			chr17	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	160	0.0063	41	c.-12 others(60): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATATTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMFR_chr16_56356452_56430545	56406123	A A	AGGGGGGG others(34): Show AGGGGGGGAGAGGGGGGAGGGGAGGGGGGAGAGGGGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	356	0.0028	41	c.667 others(56): Show c.667-880_667-879insCTCTCTCCCCTCTCCCCCCTCCCCTCCCCC CTCTCCCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMN_chr14_102917663_102935842	102935588	G G	GAGACCAG others(34): Show GAGACCAGTCTGGCCAACATGGTGAAACCCCGCCTCTACTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	452	0.0022	41	c.49 others(52): Show c.4908_*4909insAGACCAGTCTGGCCAACATGGTGAAACCCCGCCT CTACTAA	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding		4747		chr14	TogoVar
AMPH_chr7_38378704_38636373	38610332	A A	AGAGAGAG others(34): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	288	0.0035	41	c.69+ others(58): Show c.69+20950_69+20951insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TGGTGGTG others(34): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	278	0.0036	41	c.-37 others(50): Show c.-376_-375insCCACCACCACCACCACCACCACCACCACCACCACCA CCACC	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TGGTGGTG others(34): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	278	0.0036	41	c.-37 others(50): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCACC	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107370338	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01071.hp1 others(4): Show HG00639.hp2 HG00735.hp2 HG01071.hp1 HG02015.hp1 HG02056.hp2 HG02735.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0079 a0001c0001t0001g0080 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0128 a0001c0001t0001g0195 a0001c0001t0002g0212 a0001c0001t0003g0287	7	292	0.0240	41	c.298 others(60): Show c.298-23242_298-23241insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(34): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG01981.hp2 others(3): Show HG01255.hp2 HG01934.hp1 HG01981.hp2 HG03834.hp2 NA18981.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0002g0082	6	292	0.0206	41	c.298 others(60): Show c.298-23244_298-23243insCTTTCTTTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(34): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG03239.hp2 others(3): Show HG00597.hp1 HG02056.hp1 HG03239.hp2 NA18944.hp2 NA18984.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0134 a0001c0001t0001g0237 a0001c0001t0002g0173 a0001c0001t0008g0101	6	292	0.0206	41	c.298 others(60): Show c.298-23244_298-23243insCTTTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370407	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	292	0.0034	41	c.298 others(60): Show c.298-23311_298-23310insCTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp2 NA19054.hp1 HG02015.hp1 HG02040.hp2 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0264 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0264 a0001c0003t0002g0283 a0001c0003t0002g0284	3	314	0.0096	41	c.486 others(58): Show c.486+2287_486+2288insAAAAAAAAAAATATATATATATATATAT ATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0259 a0001c0003t0002g0259	1	314	0.0032	41	c.486 others(58): Show c.486+2287_486+2288insAAAAAAAAATATATATATATATATATAT ATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	362	0.0028	41	c.691 others(56): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	310	0.0032	41	c.-60 others(58): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0132 a0001c0002t0004g0132	1	292	0.0034	41	c.696 others(60): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT ATATATATTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0251 a0001c0003t0009g0251	1	292	0.0034	41	c.696 others(60): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT ATATATATATTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD1_chr10_90907096_90926087	90918983	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0225 a0001c0001t0035g0225	1	468	0.0021	41	c.346 others(54): Show c.346-12_346-11insATATATATATATATATATATATATATATATAT ATATATATA	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGATGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp1 HG02965.hp2 HG03516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0118 a0002c0001t0001g0168 a0002c0001t0001g0118 a0002c0001t0001g0168	2	356	0.0056	41	c.37- others(56): Show c.37-5835_37-5834insGAGGGAGGGAGGGAAGGAAGGAAGGAAGGA AGGATGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03927.hp1 HG02630.hp2 HG03927.hp1	a0004 a0005 a0004 a0005	a0004c0010 a0005c0006 a0004c0010 a0005c0006	a0004c0010t0002 a0005c0006t0004 a0004c0010t0002 a0005c0006t0004	a0004c0010t0002g0247 a0005c0006t0004g0254 a0004c0010t0002g0247 a0005c0006t0004g0254	2	356	0.0056	41	c.37- others(56): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAAGGAAGGA AGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG03516.hp2 HG01884.hp2 HG03041.hp2 HG03516.hp2	a0004 a0005 a0008 a0004 a0005 a0008	a0004c0010 a0005c0006 a0008c0008 a0004c0010 a0005c0006 a0008c0008	a0004c0010t0001 a0005c0006t0002 a0008c0008t0002 a0004c0010t0001 a0005c0006t0002 a0008c0008t0002	a0004c0010t0001g0217 a0005c0006t0002g0258 a0008c0008t0002g0259 a0004c0010t0001g0217 a0005c0006t0002g0258 a0008c0008t0002g0259	3	356	0.0084	41	c.37- others(56): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAAGGA AGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02922.hp2 HG00673.hp2 HG02922.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0008 a0004c0004 a0008c0008	a0004c0004t0001 a0008c0008t0002 a0004c0004t0001 a0008c0008t0002	a0004c0004t0001g0026 a0008c0008t0002g0256 a0004c0004t0001g0026 a0008c0008t0002g0256	2	356	0.0056	41	c.37- others(56): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0095 a0003c0003t0001g0095	1	356	0.0028	41	c.37- others(56): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAGGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4193845	G G	GAGGGAGG others(34): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19080.hp1 HG03710.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0049 a0001c0002 a0003c0049	a0001c0002t0001 a0003c0049t0001 a0001c0002t0001 a0003c0049t0001	a0001c0002t0001g0064 a0003c0049t0001g0074 a0001c0002t0001g0064 a0003c0049t0001g0074	2	356	0.0056	41	c.37- others(56): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAAGGAAGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar

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