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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ANO3_chr11_26327130_26668289	26365954	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0060 a0001c0006t0025g0060	1	190	0.0053	-26	c.46+ others(43): Show c.46+33657_46+33682delATATATATATATATATATATATATAT		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26564720	CACACACA others(19): Show CACACACACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0018 a0001c0004t0003g0124 a0001c0004t0003g0018 a0001c0004t0003g0124	2	190	0.0105	-26	c.144 others(45): Show c.1447+4943_1447+4968delCACACACACACATATATATATATATA		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26564726	CACACACA others(19): Show CACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0070 a0001c0003t0007g0070	1	190	0.0053	-26	c.144 others(45): Show c.1447+4949_1447+4974delCACACATATATATATATATATATATA		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	100989728	TGGGTGGA others(19): Show TGGGTGGATAGATGGATGGATATATGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG03492.hp1 HG02145.hp2 HG02615.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0014 a0001c0002t0002 a0001c0001t0004 a0001c0001t0014 a0001c0002t0002	a0001c0001t0004g0070 a0001c0001t0014g0171 a0001c0002t0002g0209 a0001c0001t0004g0070 a0001c0001t0014g0171 a0001c0002t0002g0209	3	236	0.0127	-26	c.734 others(43): Show c.734+2059_734+2084delGGGTGGATAGATGGATGGATATATGG		ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	8/27						chr12	TogoVar
ANO4_chr12_100789776_101133629	101103181	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(57): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01346.hp1 HG01517.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02615.hp2 HG02738.hp1 HG03492.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18979.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA19000.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0002c0008 a0004c0010	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0003t0001 a0002c0004t0001 a0002c0008t0001 a0004c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0214 a0001c0001t0011g0012 a0001c0001t0014g0171 a0001c0003t0001g0041 a0001c0003t0001g0094 a0001c0003t0001g0191 a0002c0004t0001g0081 a0002c0004t0001g0086 a0002c0004t0001g0090 a0002c0004t0001g0137 a0002c0008t0001g0119 a0004c0010t0001g0140	60	236	0.2542	-26	c.214 others(45): Show c.2149+3463_2149+3488delTTATATATATATATATATATATATAT		ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	101104619	GTATGTGT others(19): Show GTATGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG04204.hp2 NA18980.hp2 others(1): Show HG03098.hp1 HG04204.hp2 NA18980.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0135 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0207	4	236	0.0170	-26	c.214 others(45): Show c.2149+4903_2149+4928delGTGTGTATATATATATATATATATAT		ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	101104623	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0231 a0001c0003t0005g0230 a0001c0001t0005g0231 a0001c0003t0005g0230	2	236	0.0085	-26	c.214 others(45): Show c.2149+4905_2149+4930delGTGTATATATATATATATATATATAT		ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ANTXR1_chr2_69008179_69254327	69177857	ACTGGTAG others(19): Show ACTGGTAGCTCTGCCCCACTCTGTTCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	206	0.0049	-26	c.109 others(45): Show c.1090-3928_1090-3903delCTGGTAGCTCTGCCCCACTCTGTTCT		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	14/17						chr2	TogoVar
ANTXR2_chr4_79896146_80078229	79988229	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG02109.hp2 HG03098.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0004 a0006c0006t0073 a0002c0002t0004 a0006c0006t0073	a0002c0002t0004g0041 a0006c0006t0073g0252 a0002c0002t0004g0041 a0006c0006t0073g0252	2	268	0.0075	-26	c.104 others(45): Show c.1042-3392_1042-3367delTATATATATATATATATATATATATA		ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	12/16						chr4	TogoVar
ANXA2_chr15_60342151_60402986	60366813	GGGGTCGG others(19): Show GGGGTCGGCCAGCCGCCCCGTCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20300.hp1 HG02145.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0003 a0001c0001t0001g0039	2	334	0.0060	-26	c.149 others(43): Show c.149-2316_149-2291delTCCCGGACGGGGCGGCTGGCCGACCC		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12						chr15	TogoVar
AOPEP_chr9_94721699_95092159	94829667	CTCACCCT others(19): Show CTCACCCTGGCCACATGTCAGATATGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 HG02970.hp2 others(2): Show HG02257.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0008 a0006c0007t0001g0099 a0006c0007t0001g0100 others(2): Show a0001c0001t0001g0008 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102	5	182	0.0275	-26	c.136 others(47): Show c.1364+28693_1364+28718delCACCCTGGCCACATGTCAGATATG TT		AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr9	TogoVar
AP1M1_chr19_16192911_16250906	16239239	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0173 a0001c0002t0051g0173	1	308	0.0033	-26	c.48 others(37): Show c.4819_*4844delTTTTTTTTTTTTTTTTTTTTTTTTTT		AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	12/12				4819	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16240248	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG03139.hp1 NA21309.hp2 HG02451.hp1 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0083 a0001c0002t0060 a0001c0002t0080 a0001c0001t0083 a0001c0002t0060 a0001c0002t0080	a0001c0001t0083g0288 a0001c0002t0060g0178 a0001c0002t0080g0176 a0001c0001t0083g0288 a0001c0002t0060g0178 a0001c0002t0080g0176	3	308	0.0097	-26	c.58 others(37): Show c.5839_*5864delATGTGTGTGTGTGTGTGTGTGTGTGT		AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	12/12				5839	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1S3_chr2_223750326_223842582	223780286	TATATATA others(19): Show TATATATATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0326 a0001c0001t0005g0326	1	340	0.0029	-26	c.4-2 others(39): Show c.4-2443_4-2418delCTCTATATATATATATATATATATAT		AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4						chr2	TogoVar
AP1S3_chr2_223750326_223842582	223828068	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0319 a0001c0001t0026g0319	1	340	0.0029	-26	c.3+9 others(39): Show c.3+9354_3+9379delCTTTTTTTTTTTTTTTTTTTTTTTTT		AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4						chr2	TogoVar
AP1S3_chr2_223750326_223842582	223832131	CTCTCTGT others(19): Show CTCTCTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0329 a0001c0001t0006g0329	1	340	0.0029	-26	c.3+5 others(39): Show c.3+5291_3+5316delCACACACACACACACACACACAGAGA		AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4						chr2	TogoVar
AP3B2_chr15_82654281_82714875	82665376	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(126): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0010 a0002c0003 a0003c0004 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0002c0003t0001 a0003c0004t0001 a0006c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0344 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0007g0043 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0093 a0001c0007t0001g0111 a0001c0010t0001g0050 a0002c0003t0001g0019 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0126 a0006c0012t0001g0138	129	368	0.3505	-26	c.197 others(41): Show c.1971+55_1972-74delGTGTGTGTGTGTGTGTGTGTGTGTGT		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26						chr15	TogoVar
AP3S1_chr5_115836935_115919081	115842507	GCCCGGGA others(19): Show GCCCGGGAGGAGGAAGACGGCGTGGAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0351 a0001c0001t0004g0351	1	378	0.0027	-26	c.69+ others(39): Show c.69+403_69+428delCCGGGAGGAGGAAGACGGCGTGGAAC		AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89844249	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA18975.hp1 others(1): Show HG01167.hp2 HG01169.hp1 NA18975.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0172 a0001c0001t0001g0173	4	312	0.0128	-26	c.346 others(43): Show c.346-6553_346-6528delGAGAGAAAGAAAGAAAGAAAGAAAGA		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858513	GAGAGAGA others(19): Show GAGAGAGAGAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	312	0.0032	-26	c.345 others(45): Show c.345+12936_345+12961delTTCTTTCTTTCTTTCTCTCTCTCTCT		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
APBA1_chr9_69422532_69677371	69523477	GTATATAT others(19): Show GTATATATATATATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03098.hp2 HG03516.hp1 others(1): Show HG02602.hp1 HG03098.hp2 HG03516.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0016 a0002c0002t0017 a0002c0002t0003 a0002c0002t0016 a0002c0002t0017	a0002c0002t0003g0171 a0002c0002t0016g0181 a0002c0002t0017g0205 others(1): Show a0002c0002t0003g0171 a0002c0002t0016g0181 a0002c0002t0017g0205 a0002c0002t0017g0206	4	210	0.0191	-26	c.-69 others(43): Show c.-69-6224_-69-6199delTATATACATATATATATATATATATA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69523510	TATATATA others(19): Show TATATATATATATATATATATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02970.hp1 NA19004.hp1 HG01515.hp1 HG02970.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0032 a0001c0001t0001 a0001c0001t0028 a0001c0001t0032	a0001c0001t0001g0125 a0001c0001t0028g0117 a0001c0001t0032g0061 a0001c0001t0001g0125 a0001c0001t0028g0117 a0001c0001t0032g0061	3	210	0.0143	-26	c.-69 others(43): Show c.-69-6257_-69-6232delGTCTATATATATATATATATATATAT		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBB2_chr4_40805027_41219542	40907361	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0059 a0002c0009t0059	a0002c0009t0059g0182 a0002c0009t0059g0182	1	192	0.0052	-26	c.125 others(47): Show c.1255-13976_1255-13951delAAAAAAAATATATATATATATATA TA		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40982267	AAAGAAAG others(19): Show AAAGAAAGAAAGAAAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0162 a0001c0003t0009g0162	1	192	0.0052	-26	c.835 others(45): Show c.835+31290_835+31315delCTTCCTTCCTTCTTTCTTTCTTTCTT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40991952	GCTCTCAC others(19): Show GCTCTCACTCTCCCTCCTCCTCCCCAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0161 a0001c0004t0020g0161	1	192	0.0052	-26	c.835 others(45): Show c.835+21605_835+21630delATGGGGAGGAGGAGGGAGAGTGAGAG		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	41141322	GTGTGTGT others(19): Show GTGTGTGTGTCTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(16): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00733.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01981.hp1 HG02698.hp2 HG03491.hp1 HG03704.hp1 NA19056.hp2 NA19066.hp1 NA19087.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0017 a0001c0003t0003 others(7): Show a0001c0002t0002 a0001c0002t0017 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0013 a0001c0004t0019 a0001c0004t0052	a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0017g0120 others(16): Show a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0017g0120 a0001c0003t0003g0136 a0001c0004t0001g0121 a0001c0004t0002g0112 a0001c0004t0002g0116 a0001c0004t0002g0192 a0001c0004t0003g0043 a0001c0004t0003g0111 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0004g0129 a0001c0004t0004g0140 a0001c0004t0013g0022 a0001c0004t0019g0073 a0001c0004t0052g0093	19	192	0.0990	-26	c.-26 others(45): Show c.-261+1639_-261+1664delGACACACACACACACAGACACACACA		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	2/17						chr4	TogoVar
APOA1_chr11_116830751_116842622	116831191	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01168.hp1 others(11): Show HG00609.hp1 HG00639.hp1 HG01168.hp1 HG01255.hp1 HG03927.hp1 NA18965.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	14	448	0.0313	-26	c.45 others(37): Show c.4591_*4616delGAAAGAAAGAAAGAAAGAAAGAAAGA		APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding					4559		chr11	TogoVar
APOA1_chr11_116830751_116842622	116831197	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02818.hp1 HG03130.hp2 others(3): Show HG01074.hp1 HG02818.hp1 HG03130.hp2 HG03225.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	6	448	0.0134	-26	c.45 others(37): Show c.4585_*4610delAAGAAAGAAAGAAAGAAAGAAAGAAA		APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding					4553		chr11	TogoVar
APOBEC3H_chr22_39092244_39109067	39097218	TTTTTGTG others(19): Show TTTTTGTGACTTTTGGGAGAGCTGACC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0019 a0001c0001t0013g0019	1	418	0.0024	-26	c.-13 others(35): Show c.-132_-107delTTTTGTGACTTTTGGGAGAGCTGACC		APOBEC3H	ENSG00000100298.16	transcript	ENST00000442487.8	protein_coding	1/5				3035		chr22	TogoVar
APOBR_chr16_28489643_28503964	28496129	CCGGGACA others(19): Show CCGGGACAGCCTCAGGAGGGGACGAGG	C C	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0022 a0022	a0022c0059 a0022c0059	a0022c0059t0001 a0022c0059t0001	a0022c0059t0001g0001 a0022c0059t0001g0001	1	406	0.0025	-26	c.109 others(35): Show c.1090_1115delGGGACAGCCTCAGGAGGGGACGAGGC	p.Gly others(5): Show p.Gly364fs	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1129/3792	1090/3294	364/1097		INFO_REALIGN_3_PRIME	chr16	TogoVar
APOC3_chr11_116824907_116838072	116831191	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp2 HG01255.hp1 others(11): Show HG00609.hp2 HG01168.hp2 HG01255.hp1 HG03927.hp1 NA18965.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0128 a0001c0001t0003g0027 a0001c0001t0001g0010 a0001c0001t0001g0128 a0001c0001t0003g0027	14	450	0.0311	-26	c.179 others(41): Show c.179+297_179+322delCTTTCTTTCTTTCTTTCTTTCTTTCT		APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
APOC3_chr11_116824907_116838072	116831197	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02818.hp2 HG03130.hp2 others(3): Show HG01074.hp2 HG02818.hp2 HG03130.hp2 HG03225.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0021 a0001c0001t0001g0073	6	450	0.0133	-26	c.179 others(41): Show c.179+303_179+328delTTCTTTCTTTCTTTCTTTCTTTCTTT		APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
APOL4_chr22_36184128_36206809	36195772	TCTCTCAC others(19): Show TCTCTCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0056 a0003c0004t0017g0056	1	434	0.0023	-26	c.83- others(39): Show c.83-361_83-336delTGTGTGTGTGTGTGTGTGTGTGAGAG		APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	2/3						chr22	TogoVar
APOOL_chrX_84998877_85098315	85057638	GATATATA others(19): Show GATATATATCTCATCTGAATGGATGAT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0032 a0001c0001t0094g0032	1	256	0.0039	-26	c.394 others(43): Show c.394+1748_394+1773delCTCATCTGAATGGATGATATATATAT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	5/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829563	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 NA18986.hp1 NA18992.hp2 HG01257.hp2 NA18986.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0006g0001 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0006g0001	3	269	0.0112	-26	c.40 others(37): Show c.4053_*4078delATATATATATATATATTTTTTTTTTT		APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding					3789		chrX	TogoVar
APOO_chrX_23828353_23912938	23829567	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03041.hp2 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0251 a0001c0001t0003g0131 a0001c0001t0003g0251	2	269	0.0074	-26	c.40 others(37): Show c.4049_*4074delATATATATATATATATATATTTTTTT		APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding					3785		chrX	TogoVar
APPBP2_chr17_60438158_60531242	60450180	TGTAATCC others(19): Show TGTAATCCCAGCACTCTGGGAGGCCAA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show HG01168.hp2 HG01243.hp1 HG02572.hp1 HG02723.hp1 HG03041.hp1 HG03453.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 others(4): Show a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 a0002c0002t0004g0038	7	144	0.0486	-26	c.150 others(45): Show c.1504+1674_1504+1699delTTGGCCTCCCAGAGTGCTGGGATTAC		APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	12/12						chr17	TogoVar
APPL2_chr12_105168300_105241174	105203010	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(82): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02735.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0009	a0001c0001 a0002c0002 a0002c0016 others(5): Show a0001c0001 a0002c0002 a0002c0016 a0002c0020 a0003c0008 a0005c0019 a0006c0018 a0009c0017	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(6): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0002c0016t0008 a0002c0020t0002 a0003c0008t0001 a0005c0019t0002 a0006c0018t0002 a0009c0017t0002	a0001c0001t0001g0280 a0001c0001t0001g0314 a0001c0001t0001g0341 others(77): Show a0001c0001t0001g0280 a0001c0001t0001g0314 a0001c0001t0001g0341 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0119 a0002c0002t0002g0186 a0002c0002t0002g0207 a0002c0002t0002g0217 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0008g0056 a0002c0002t0008g0088 a0002c0016t0008g0057 a0002c0020t0002g0092 a0003c0008t0001g0346 a0005c0019t0002g0091 a0006c0018t0002g0086 a0009c0017t0002g0034	85	392	0.2168	-26	c.704 others(41): Show c.704+667_704+692delGTGTGTGTGTGTGTGTGTGTGTGTGT		APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20						chr12	TogoVar
AQP11_chr11_77584953_77615356	77589545	CGGGTGTC others(19): Show CGGGTGTCACCGCCCGCAGGGGCGCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	432	0.0023	-26	c.-44 others(35): Show c.-447_-422delGGGTGTCACCGCCCGCAGGGGCGCAA		AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding					407		chr11	TogoVar
AQP4_chr18_26847043_26870707	26847501	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA18947.hp1 NA18960.hp2 others(6): Show HG02080.hp1 NA18947.hp1 NA18960.hp2 NA18972.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA19062.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0005 a0001c0001t0021g0097 a0001c0001t0002g0005 a0001c0001t0021g0097	9	438	0.0206	-26	c.86 others(37): Show c.8684_*8709delGTGTGTGTGTGTGTGTGTGTGTGTGT		AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding					4541		chr18	TogoVar
AQP7_chr9_33378191_33407568	33405443	CACACACA others(19): Show CACACACACACACACACACACACACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp1 others(16): Show HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02148.hp2 HG02602.hp1 HG02717.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 others(12): Show a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0004g0005 a0001c0001t0004g0335 a0001c0001t0004g0339 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0007g0354	19	438	0.0434	-26	c.-31 others(37): Show c.-3122_-3097delCTGTGTGTGTGTGTGTGTGTGTGTGT		AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding					2876		chr9	TogoVar
AQP8_chr16_25211947_25233932	25216145	CTTTCTTT others(19): Show CTTTCTTTTTCTTTCTTTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01123.hp2 others(19): Show HG00673.hp2 HG00738.hp2 HG01123.hp2 HG01261.hp2 HG01496.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18944.hp1 NA18966.hp1 NA18972.hp2 NA18980.hp1 NA18999.hp1 NA19056.hp2 NA19066.hp2 NA19079.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0184 a0001c0001t0001g0198 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0019 a0002c0002t0002g0049 a0002c0002t0002g0129 a0002c0002t0002g0140 a0002c0002t0003g0156	22	420	0.0524	-26	c.-90 others(35): Show c.-900_-875delTTTCTTTTTCTTTCTTTTTCTTTCTT		AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding					801		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216151	TTTTCTTT others(19): Show TTTTCTTTCTTTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0081 a0005c0009t0002g0081	1	420	0.0024	-26	c.-89 others(35): Show c.-894_-869delTTTCTTTCTTTTTCTTTCTTTCTTTC		AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding					795		chr16	TogoVar
AQP9_chr15_58133381_58190911	58187422	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03041.hp1 NA20300.hp2 HG02622.hp1 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0078 a0001c0001t0011g0207 a0001c0001t0011g0262 a0001c0001t0011g0078 a0001c0001t0011g0207 a0001c0001t0011g0262	3	416	0.0072	-26	c.32 others(37): Show c.3288_*3313delTGTGTGTGTGTGTGTGTGTGTGTGTG		AQP9	ENSG00000103569.11	transcript	ENST00000219919.9	protein_coding					1512		chr15	TogoVar
AQR_chr15_34846782_34974742	34970110	AGTTTAGT others(19): Show AGTTTAGTTTTGTTTTTTTTGAGACGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0035 a0002c0013t0035	a0002c0013t0035g0180 a0002c0013t0035g0180	1	312	0.0032	-26	c.-52 others(35): Show c.-523_-498delCCGTCTCAAAAAAAACAAAACTAAAC		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding					369		chr15	TogoVar
ARFGEF2_chr20_48916711_49041693	48920125	GGGGGAAG others(19): Show GGGGGAAGGGGCCCAGGGGACACCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	352	0.0028	-26	c.-17 others(37): Show c.-1764_-1739delGGGGAAGGGGCCCAGGGGACACCACT		ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding					1585		chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	49037426	AAAATAGA others(19): Show AAAATAGAGATGGGGGTCTCACTATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	352	0.0028	-26	c.42 others(37): Show c.4228_*4253delAAATAGAGATGGGGGTCTCACTATGT		ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding					734		chr20	TogoVar
ARFGEF3_chr6_138156939_138349663	138345450	ATTATATA others(19): Show ATTATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0012 a0005c0025t0012	a0005c0025t0012g0074 a0005c0025t0012g0074	1	190	0.0053	-26	c.89 others(37): Show c.8965_*8990delTTATATATATATATATATATATATAT		ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding					788		chr6	TogoVar
ARFIP1_chr4_152774954_152917357	152804063	TGTAATAT others(19): Show TGTAATATATATTATATATAATATAAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	342	0.0029	-26	c.-10 others(45): Show c.-10+23864_-10+23889delGTAATATATATTATATATAATATAAC		ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARGFX_chr3_121562949_121595622	121565789	GTATATAT others(19): Show GTATATATATATATACACACATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	410	0.0024	-26	c.-22 others(37): Show c.-2236_-2211delTATATATATATATACACACATATATA		ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding					2159		chr3	TogoVar

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