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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⚠️ 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
APBA1_chr9_69422532_69677371	69540122	G G	GCAACAAC others(8): Show GCAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01169.hp1 HG01346.hp1 others(11): Show HG00609.hp1 HG01169.hp1 HG01346.hp1 HG02074.hp2 HG03704.hp2 NA18946.hp1 NA18961.hp2 NA18966.hp1 NA18979.hp2 NA18985.hp1 NA19004.hp1 NA19240.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0025 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0037 a0002c0002t0003 a0003c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0121 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0025g0162 a0001c0001t0037g0210 a0002c0002t0003g0172 a0003c0007t0001g0113	14	210	0.0667	15	c.-69 others(34): Show c.-69-22858_-69-22844dupTTGTTGTTGTTGTTG	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTCTCTCT others(8): Show CTCTCTCTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	210	0.0048	15	c.-70 others(34): Show c.-70+13848_-70+13849insAAGAAAGAAGAGAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28943731	C C	CGGCTCCT others(8): Show CGGCTCCTCCAGCCCT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18971.hp2 NA18981.hp2 others(2): Show NA18956.hp2 NA18971.hp2 NA18981.hp2 NA18986.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0004g0015 a0001c0001t0005g0031 others(2): Show a0001c0001t0001g0016 a0001c0001t0004g0015 a0001c0001t0005g0031 a0001c0001t0005g0088 a0002c0002t0001g0020	5	204	0.0245	15	c.-95 others(34): Show c.-95+22016_-95+22030dupTCCTCCAGCCCTGGC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29045069	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02559.hp2 HG00597.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0004 a0001c0001t0020 a0002c0002t0004	a0001c0001t0020g0181 a0002c0002t0004g0013 a0001c0001t0020g0181 a0002c0002t0004g0013	2	204	0.0098	15	c.-40 others(32): Show c.-40-8776_-40-8775insCTCTCTCTCTCTCTC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14			chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26438484	T T	TTAAAATA others(8): Show TTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0358 a0001c0001t0007g0358	1	358	0.0028	15	c.-20 others(30): Show c.-203+45_-203+59dupTAAAATAAAATAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00738.hp1 others(59): Show HG00140.hp2 HG00609.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01361.hp1 HG01891.hp1 HG02004.hp2 HG02055.hp1 HG02148.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp2 NA18980.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0009c0011 a0010c0010 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0005t0002 a0009c0011t0002 a0010c0010t0002 a0011c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0002g0252 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0296 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0003g0311 a0001c0001t0005g0024 a0001c0001t0008g0336 a0002c0002t0001g0147 a0002c0002t0002g0283 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0002g0302 a0004c0005t0002g0305 a0009c0011t0002g0356 a0010c0010t0002g0348 a0011c0012t0001g0207	62	358	0.1732	15	c.813 others(32): Show c.813+2887_813+2901dupAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40851738	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	192	0.0052	15	c.153 others(36): Show c.1530-21162_1530-21161insATATATATATATATA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40858454	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02451.hp2 NA18522.hp2 HG01516.hp1 HG02451.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0007 a0002c0001t0029 a0002c0001t0054 a0001c0002t0007 a0002c0001t0029 a0002c0001t0054	a0001c0002t0007g0171 a0002c0001t0029g0002 a0002c0001t0054g0066 a0001c0002t0007g0171 a0002c0001t0029g0002 a0002c0001t0054g0066	3	192	0.0156	15	c.153 others(36): Show c.1530-27892_1530-27878dupTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40864256	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01192.hp1 others(5): Show HG00280.hp1 HG00735.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG02698.hp2 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0004 a0001c0003t0003 a0001c0004t0004 others(3): Show a0001c0002t0004 a0001c0003t0003 a0001c0004t0004 a0001c0004t0052 a0002c0001t0007 a0002c0001t0010	a0001c0002t0004g0170 a0001c0003t0003g0138 a0001c0004t0004g0044 others(5): Show a0001c0002t0004g0170 a0001c0003t0003g0138 a0001c0004t0004g0044 a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0052g0093 a0002c0001t0007g0177 a0002c0001t0010g0025	8	192	0.0417	15	c.152 others(36): Show c.1529+26093_1529+26107dupGTTTTGTTTTGTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02976.hp2 HG01981.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0002c0001t0005 a0001c0004t0004 a0002c0001t0005	a0001c0004t0004g0129 a0002c0001t0005g0189 a0001c0004t0004g0129 a0002c0001t0005g0189	2	192	0.0104	15	c.836 others(32): Show c.836-1182_836-1181insGTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(8): Show AAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0112 a0001c0004t0002g0112	1	192	0.0052	15	c.-41 others(36): Show c.-416-16766_-416-16765insCCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159910	G G	GAGAAGGA others(8): Show GAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0184 a0002c0001t0023g0184	1	192	0.0052	15	c.-41 others(36): Show c.-416-16769_-416-16768insTCTCCTTCTCCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159955	G G	GAGAAGAA others(8): Show GAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	192	0.0052	15	c.-41 others(36): Show c.-416-16814_-416-16813insTCTTCTTCTTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159961	G G	GAGAAGAA others(8): Show GAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02015.hp1 HG01358.hp2 HG02015.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0037 a0002c0001t0001 a0002c0001t0037	a0002c0001t0001g0062 a0002c0001t0037g0126 a0002c0001t0001g0062 a0002c0001t0037g0126	2	192	0.0104	15	c.-41 others(36): Show c.-416-16834_-416-16820dupTCTTCTTCTTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159961	G G	GAGAAGGA others(8): Show GAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18983.hp2 HG01071.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0002 a0001c0003t0001 a0002c0001t0002	a0001c0003t0001g0029 a0002c0001t0002g0035 a0001c0003t0001g0029 a0002c0001t0002g0035	2	192	0.0104	15	c.-41 others(36): Show c.-416-16820_-416-16819insTCTTCTTCTCCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB3_chr5_140553268_140569598	140568871	A A	AGCCCTAC others(8): Show AGCCCTACCACTCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	412	0.0024	15	c.-46 others(26): Show c.-4627_-4626insCAAGAGTGGTAGGGC	APBB3	ENSG00000113108.20	transcript	ENST00000357560.9	protein_coding		4274		chr5	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(8): Show CCGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02572.hp1 others(2): Show HG01192.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0004c0047 a0001c0001 a0004c0009 a0004c0047	a0001c0001t0001 a0004c0009t0019 a0004c0009t0040 others(2): Show a0001c0001t0001 a0004c0009t0019 a0004c0009t0040 a0004c0009t0041 a0004c0047t0042	a0001c0001t0001g0235 a0004c0009t0019g0234 a0004c0009t0040g0233 others(2): Show a0001c0001t0001g0235 a0004c0009t0019g0234 a0004c0009t0040g0233 a0004c0009t0041g0231 a0004c0047t0042g0240	5	350	0.0143	15	c.120 others(30): Show c.1208-70_1208-69insCGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APC_chr5_112732885_112851239	112836165	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCCGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	294	0.0034	15	c.195 others(34): Show c.1958+1012_1958+1013insGCCCCCCCCCCCCCC	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
APELA_chr4_164872178_164902527	164873402	G G	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	434	0.0023	15	c.-39 others(26): Show c.-3930_-3929insGAAGGAAGGAAGGAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		3775		chr4	TogoVar
APELA_chr4_164872178_164902527	164899689	A A	AAGGAAAG others(8): Show AAGGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0198 a0001c0001t0009g0198	1	434	0.0023	15	c.42 others(26): Show c.4275_*4276insAGGAAAGAAAGAAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		2163		chr4	TogoVar
APEX1_chr14_20450226_20462767	20461379	G G	GCCGTCGC others(8): Show GCCGTCGCCGCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	470	0.0021	15	c.38 others(26): Show c.3871_*3872insCCGTCGCCGCAGCCA	APEX1	ENSG00000100823.12	transcript	ENST00000216714.8	protein_coding		3613		chr14	TogoVar
API5_chr11_43306996_43349529	43348048	A A	ACACCCCC others(8): Show ACACCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	384	0.0026	15	c.55 others(26): Show c.5538_*5539insCACCCCCCCCCCCCC	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		3520		chr11	TogoVar
APLP1_chr19_35863574_35884792	35864176	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	256	0.0039	15	c.-44 others(26): Show c.-4461_-4460insTTGTTGTTGTTGTTG	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding		4397		chr19	TogoVar
APLP1_chr19_35863574_35884792	35873245	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG02809.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	256	0.0078	15	c.982 others(30): Show c.982-389_982-375dupTTTTTTTTTTTTTTT	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
APLP2_chr11_130064894_130149805	130083026	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp2 HG01891.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0220 a0001c0001t0002g0221	2	274	0.0073	15	c.105 others(34): Show c.105+12957_105+12971dupTTTTTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APMAP_chr20_24957925_24997751	24960506	A A	ACCGAGGG others(8): Show ACCGAGGGCTGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	290	0.0035	15	c.33 others(26): Show c.3306_*3307insCCCTCCAGCCCTCGG	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding		2418		chr20	TogoVar
APOA4_chr11_116815700_116828304	116818630	A A	ATATATAT others(8): Show ATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	2	462	0.0043	15	c.22 others(26): Show c.2236_*2237insAAAAAAATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2069		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818631	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	15	c.22 others(26): Show c.2235_*2236insTATATATATATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2068		chr11	TogoVar
APOBEC3A_chr22_38952609_38968184	38963961	A A	AACACACA others(8): Show AACACACACAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0007 a0001c0003t0005g0007	1	360	0.0028	15	c.14 others(26): Show c.1452_*1453insACACACACAACACAT	APOBEC3A	ENSG00000128383.14	transcript	ENST00000249116.7	protein_coding		778		chr22	TogoVar
APOBEC3H_chr22_39092244_39109067	39099036	A A	AATACAAA others(8): Show AATACAAAAATTAGCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	418	0.0024	15	c.-7- others(30): Show c.-7-1235_-7-1221dupATACAAAAATTAGCC	APOBEC3H	ENSG00000100298.16	transcript	ENST00000442487.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOB_chr2_20996429_21049073	21000846	G G	GTAATTAT others(8): Show GTAATTATAAACATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02109.hp2 HG02976.hp1 others(1): Show HG01167.hp2 HG02109.hp2 HG02976.hp1 HG03453.hp2	a0009 a0017 a0043 a0009 a0017 a0043	a0009c0019 a0017c0017 a0043c0071 a0009c0019 a0017c0017 a0043c0071	a0009c0019t0001 a0017c0017t0001 a0043c0071t0001 a0009c0019t0001 a0017c0017t0001 a0043c0071t0001	a0009c0019t0001g0030 a0009c0019t0001g0122 a0017c0017t0001g0092 others(1): Show a0009c0019t0001g0030 a0009c0019t0001g0122 a0017c0017t0001g0092 a0043c0071t0001g0121	4	350	0.0114	15	c.88 others(24): Show c.883_*884insAAATGTTTATAATTA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		582		chr2	TogoVar
APOB_chr2_20996429_21049073	21001204	T T	TTTTAATT others(8): Show TTTTAATTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0220 a0005c0004t0001g0220	1	350	0.0029	15	c.52 others(24): Show c.525_*526insTATTTTATAATTAAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		224		chr2	TogoVar
APOC2_chr19_44941051_44954565	44947594	C C	CAGACCAG others(8): Show CAGACCAGCCTGGGCA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	398	0.0025	15	c.-13 others(30): Show c.-13-870_-13-856dupGACCAGCCTGGGCAA	APOC2	ENSG00000234906.11	transcript	ENST00000252490.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
APOH_chr17_66207033_66234415	66224637	A A	AGAAGGGA others(8): Show AGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0118 a0005c0005t0002g0118	1	386	0.0026	15	c.339 others(30): Show c.339-878_339-864dupCCTTCCCTTCCCTTC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224656	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp2 HG02647.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0339 a0002c0002t0002g0338 a0002c0002t0001g0339 a0002c0002t0002g0338	2	386	0.0052	15	c.339 others(30): Show c.339-883_339-882insTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224671	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03834.hp1 HG04228.hp1 others(1): Show HG03704.hp2 HG03834.hp1 HG04228.hp1 NA19004.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0001 a0011c0014t0001 a0001c0001t0001 a0011c0014t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0318 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0318 a0011c0014t0001g0309	4	386	0.0104	15	c.339 others(30): Show c.339-898_339-897insTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224676	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04184.hp2 HG02602.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	386	0.0052	15	c.339 others(30): Show c.339-903_339-902insTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224686	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0243 a0002c0002t0002g0023 a0002c0002t0002g0243	3	386	0.0078	15	c.339 others(30): Show c.339-913_339-912insTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224691	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	386	0.0026	15	c.339 others(30): Show c.339-932_339-918dupTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224748	G G	GAAAGGAA others(8): Show GAAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	386	0.0026	15	c.339 others(30): Show c.339-975_339-974insGCTTTCCTTTCCTTT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66232625	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03579.hp2 HG01243.hp2 HG03579.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0013 a0002c0011t0002g0013	2	386	0.0052	15	c.-32 others(26): Show c.-3261_-3247dupTTTTTTTTTTTTTTT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding		3211		chr17	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0076 a0014c0020t0001g0076	1	401	0.0025	15	c.-63 others(24): Show c.-637_-636insAAAAAAAATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOM_chr6_31650894_31663210	31652357	A A	ACACACAC others(8): Show ACACACACACACCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	15	c.-36 others(26): Show c.-3610_-3609insCACACACACACCACC	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding		3536		chr6	TogoVar
APOO_chrX_23828353_23912938	23829567	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	269	0.0037	15	c.40 others(26): Show c.4074_*4075insATATATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3785		chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01168.hp1 others(5): Show HG00323.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp1 HG02683.hp1 NA19004.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0003g0223	8	269	0.0297	15	c.561 others(32): Show c.561+6704_561+6718dupTTTTTTTTTTTTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0091 a0001c0001t0020g0091	1	266	0.0038	15	c.184 others(34): Show c.1842+1622_1842+1636dupTTTTTTTTTTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
AQP12B_chr2_240671418_240687885	240673478	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02976.hp1 HG02572.hp1 HG02976.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0019 a0010c0011t0001g0019	2	179	0.0112	15	c.30 others(26): Show c.3066_*3067insCAAAACAAAACAAAA	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding		2939		chr2	TogoVar
AQP12B_chr2_240671418_240687885	240680922	G G	GAGAGAGA others(8): Show GAGAGAGAGGAGAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02280.hp1 HG02280.hp2 others(12): Show HG00323.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03540.hp1 HG03669.hp2 HG06807.hp2 NA18966.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0001 a0003c0003t0003 a0007c0008t0001 a0003c0003t0001 a0003c0003t0003 a0007c0008t0001	a0003c0003t0001g0009 a0003c0003t0001g0023 a0003c0003t0001g0064 others(7): Show a0003c0003t0001g0009 a0003c0003t0001g0023 a0003c0003t0001g0064 a0003c0003t0001g0066 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0003g0067 a0007c0008t0001g0065 a0007c0008t0001g0068 a0007c0008t0001g0071	15	179	0.0838	15	c.608 others(30): Show c.608-469_608-455dupGTCTCTCCTCTCTCT	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/2			chr2	TogoVar
AQP4_chr18_26847043_26870707	26852356	A A	AGAATAAT others(8): Show AGAATAATTTCTAATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 NA18963.hp1 NA18990.hp1 others(2): Show HG02083.hp2 NA18963.hp1 NA18990.hp1 NA19003.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0043 a0001c0001t0011g0044 a0001c0001t0011g0115 a0001c0001t0011g0043 a0001c0001t0011g0044 a0001c0001t0011g0115	5	438	0.0114	15	c.38 others(26): Show c.3854_*3855insAATTAGAAATTATTC	AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding	5/5	3854		chr18	TogoVar
AQR_chr15_34846782_34974742	34882465	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02451.hp2 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0050 a0001c0011t0054 a0001c0008t0050 a0001c0011t0054	a0001c0008t0050g0174 a0001c0011t0054g0161 a0001c0008t0050g0174 a0001c0011t0054g0161	2	312	0.0064	15	c.316 others(30): Show c.3165+22_3165+36dupTTTTTTTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	27/34			chr15	TogoVar

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