Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
PSD3_chr8_18522303_19018703	18949236	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0031 a0001c0001t0069g0031	1	228	0.0044	-10	c.22- others(27): Show c.22-13104_22-13095delATTTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18991363	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0060 a0001c0001t0015 a0001c0001t0060	a0001c0001t0015g0174 a0001c0001t0060g0175 a0001c0001t0015g0174 a0001c0001t0060g0175	2	228	0.0088	-10	c.21+ others(27): Show c.21+22190_21+22199delATGTGTGTGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73202417	ACTATATA others(3): Show ACTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0301 a0001c0001t0015g0301	1	378	0.0027	-10	c.869 others(27): Show c.869-3968_869-3959delCTATATATAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11			chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202418	CTATATAT others(3): Show CTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0168 a0001c0001t0030g0168	1	378	0.0027	-10	c.869 others(27): Show c.869-3932_869-3923delATATATATAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202454	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG02895.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0249 a0001c0001t0001g0232 a0001c0001t0001g0249	2	378	0.0053	-10	c.869 others(27): Show c.869-3930_869-3921delATATATATTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73212088	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01943.hp2 HG03486.hp1 HG01070.hp2 HG01943.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0143 a0001c0001t0004g0251 a0001c0001t0004g0003 a0001c0001t0004g0143 a0001c0001t0004g0251	3	378	0.0079	-10	c.112 others(27): Show c.1129+178_1129+187delTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSENEN_chr19_35740651_35752519	35743373	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-10	c.-24 others(21): Show c.-2423_-2414delAAAAAAAAAA	PSENEN	ENSG00000205155.8	transcript	ENST00000587708.7	protein_coding		2277		chr19	TogoVar
PSG1_chr19_42861464_42884713	42879901	GACACACA others(3): Show GACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02258.hp1 others(12): Show HG01884.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084	15	408	0.0368	-10	c.-33 others(19): Show c.-330_-321delGTGTGTGTGT	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding		189		chr19	TogoVar
PSG1_chr19_42861464_42884713	42882586	CTGGGTGA others(3): Show CTGGGTGAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	408	0.0025	-10	c.-30 others(21): Show c.-3015_-3006delAATTCACCCA	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding		2874		chr19	TogoVar
PSG2_chr19_43059209_43087701	43081350	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02615.hp2 others(5): Show HG01109.hp2 HG01884.hp2 HG02615.hp2 HG02717.hp1 HG02922.hp2 HG04115.hp2 NA18988.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(5): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0003c0004t0001g0131	8	424	0.0189	-10	c.65- others(23): Show c.65-114_65-105delGTGTGTGTGT	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	1/5			chr19	TogoVar
PSG2_chr19_43059209_43087701	43082120	CTCTTTTT others(3): Show CTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG03130.hp1 others(1): Show HG02109.hp2 HG02257.hp2 HG03130.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0031 a0002c0003t0001g0093 a0002c0003t0001g0094	4	424	0.0094	-10	c.64+ others(23): Show c.64+376_64+385delAAAAAAAAGA	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	1/5			chr19	TogoVar
PSG2_chr19_43059209_43087701	43082122	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18978.hp1 NA19003.hp2 others(2): Show NA18957.hp1 NA18978.hp1 NA19003.hp2 NA19082.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(2): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209	5	424	0.0118	-10	c.64+ others(23): Show c.64+374_64+383delAAAAAAAAAA	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	1/5			chr19	TogoVar
PSG3_chr19_42716642_42745481	42736612	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01515.hp2 HG01517.hp2 others(12): Show HG00438.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp1 HG02300.hp1 HG02559.hp1 HG02965.hp2 HG03139.hp1 HG03669.hp1 HG03927.hp2 HG04115.hp2 NA18962.hp1 NA19012.hp2 NA19063.hp2 NA19065.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0007c0008t0002	a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0118 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0118 a0001c0001t0001g0156 a0002c0002t0001g0067 a0003c0003t0001g0184 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0212 a0003c0003t0001g0213 a0007c0008t0002g0068	15	368	0.0408	-10	c.430 others(27): Show c.430+2102_430+2111delCACACACACA	PSG3	ENSG00000221826.10	transcript	ENST00000327495.10	protein_coding	2/6			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933266	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02818.hp2 HG03516.hp2 HG00738.hp1 HG02818.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0009t0004 a0001c0002t0004 a0001c0009t0004	a0001c0002t0004g0342 a0001c0009t0004g0045 a0001c0002t0004g0342 a0001c0009t0004g0045	3	416	0.0072	-10	c.430 others(27): Show c.430+2128_430+2137delATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42935873	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp1 HG02647.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0343 a0001c0015t0004g0344 a0001c0015t0004g0343 a0001c0015t0004g0344	2	416	0.0048	-10	c.65- others(23): Show c.65-114_65-105delGTGTGTGTGT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	1/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42935905	CACACACA others(3): Show CACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	416	0.0024	-10	c.65- others(23): Show c.65-146_65-137delTTGTGTGTGT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	1/5			chr19	TogoVar
PSG8_chr19_42749233_42770678	42761820	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG00741.hp2 others(14): Show HG00280.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01346.hp2 HG01496.hp2 HG01993.hp2 HG02040.hp1 HG02273.hp2 HG02293.hp1 HG02698.hp1 HG03688.hp1 HG04199.hp2 NA18956.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0003c0031 others(1): Show a0001c0001 a0003c0003 a0003c0031 a0009c0014	a0001c0001t0001 a0003c0003t0001 a0003c0031t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0031t0001 a0009c0014t0001	a0001c0001t0001g0057 a0003c0003t0001g0008 a0003c0003t0001g0158 others(3): Show a0001c0001t0001g0057 a0003c0003t0001g0008 a0003c0003t0001g0158 a0003c0003t0001g0202 a0003c0031t0001g0203 a0009c0014t0001g0045	17	438	0.0388	-10	c.430 others(27): Show c.430+2086_430+2095delAAAAAAAAAA	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding	2/4			chr19	TogoVar
PSG8_chr19_42749233_42770678	42765890	GACACACA others(3): Show GACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02572.hp2 HG03017.hp1 others(3): Show HG01496.hp1 HG02572.hp2 HG03017.hp1 HG04204.hp2 NA18947.hp1 NA18957.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0028 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0029 a0002c0002t0001g0005 a0003c0003t0001g0024	6	438	0.0137	-10	c.-31 others(19): Show c.-319_-310delGTGTGTGTGT	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding		213		chr19	TogoVar
PSIP1_chr9_15459066_15515970	15466127	CCCAACAC others(3): Show CCCAACACTGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	300	0.0033	-10	c.153 others(27): Show c.1533-557_1533-548delCCAGTGTTGG	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	15/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15473917	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03688.hp2 NA18943.hp1 HG03669.hp1 HG03688.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0176 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0002g0176 a0001c0001t0003g0229 a0001c0001t0003g0230	3	300	0.0100	-10	c.858 others(23): Show c.858+82_858+91delGTTTTTTTTT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	9/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15473928	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02258.hp1 others(11): Show HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0001 a0001c0001t0005g0056 a0001c0001t0005g0057 others(8): Show a0001c0001t0005g0001 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0014g0064	14	300	0.0467	-10	c.858 others(23): Show c.858+71_858+80delGTTTTTTTTT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	9/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15513167	GGGGGAGG others(3): Show GGGGGAGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0032 a0001c0002t0004g0032	1	300	0.0033	-10	c.-25 others(21): Show c.-2502_-2493delTCCCCTCCCC	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding		2198		chr9	TogoVar
PSKH2_chr8_86042109_86074668	86055980	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	420	0.0024	-10	c.853 others(27): Show c.853-7223_853-7214delCACACACACA	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSMA2_chr7_42911861_42937174	42922481	CAGAGGAA others(3): Show CAGAGGAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0033 a0001c0002t0005g0033	2	336	0.0060	-10	c.457 others(25): Show c.457-560_457-551delATTTTCCTCT	PSMA2	ENSG00000106588.12	transcript	ENST00000223321.9	protein_coding	5/7			chr7	TogoVar
PSMA2_chr7_42911861_42937174	42930215	ACACACAC others(3): Show ACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	336	0.0030	-10	c.41+ others(25): Show c.41+1893_41+1902delCGTGTGTGTG	PSMA2	ENSG00000106588.12	transcript	ENST00000223321.9	protein_coding	1/7			chr7	TogoVar
PSMA3_chr14_58239843_58277004	58262189	AAAGTGCA others(3): Show AAAGTGCAAGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03688.hp2 HG03834.hp2 others(1): Show HG01261.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0125	4	332	0.0121	-10	c.477 others(27): Show c.477+1171_477+1180delAGTGCAAGGA	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58264430	ACTTGGTT others(3): Show ACTTGGTTTTC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	332	0.0030	-10	c.543 others(25): Show c.543+664_543+673delGGTTTTCCTT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58271327	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp1 HG02040.hp1 others(10): Show HG00621.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 NA18941.hp2 NA18949.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp2 NA19001.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0198 a0001c0001t0001g0199 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260	13	332	0.0392	-10	c.723 others(25): Show c.723+340_723+349delTTTTTTTTTT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA4_chr15_78535444_78557417	78536298	TACACACA others(3): Show TACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02895.hp1 HG02897.hp2 HG00639.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0002t0002 a0001c0001t0023 a0001c0002t0002	a0001c0001t0023g0028 a0001c0002t0002g0003 a0001c0001t0023g0028 a0001c0002t0002g0003	3	430	0.0070	-10	c.-42 others(21): Show c.-4264_-4255delACACACACAC	PSMA4	ENSG00000041357.16	transcript	ENST00000044462.12	protein_coding		4145		chr15	TogoVar
PSMA5_chr1_109394042_109431448	109421472	AAAAAAGA others(3): Show AAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp1 HG01516.hp2 others(14): Show HG01099.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02818.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021	a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0034 others(9): Show a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0009g0120 a0001c0001t0020g0121 a0001c0001t0021g0126	17	318	0.0535	-10	c.96+ others(23): Show c.96+378_96+387delCTTTCTTTTT	PSMA5	ENSG00000143106.13	transcript	ENST00000271308.9	protein_coding	2/8			chr1	TogoVar
PSMA6_chr14_35287382_35322493	35291823	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	380	0.0026	-10	c.-65 others(19): Show c.-653_-644delAAAAAAAAAA	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding		558		chr14	TogoVar
PSMA7_chr20_62131733_62148394	62138059	TTAAGCAT others(3): Show TTAAGCATTAC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	362	0.0028	-10	c.591 others(25): Show c.591+102_591+111delGTAATGCTTA	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding	5/6			chr20	TogoVar
PSMA8_chr18_26128869_26198355	26163213	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG01243.hp1 others(8): Show HG00738.hp2 HG01192.hp2 HG01243.hp1 HG02055.hp2 HG02165.hp1 HG03195.hp2 HG04115.hp2 NA18965.hp2 NA18995.hp1 NA19060.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0144 a0001c0001t0001g0150 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0001g0251 a0001c0001t0002g0137	11	268	0.0410	-10	c.477 others(27): Show c.477+5009_477+5018delATATATATAT	PSMA8	ENSG00000154611.15	transcript	ENST00000415576.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
PSMB2_chr1_35594541_35646526	35628578	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	300	0.0033	-10	c.285 others(27): Show c.285+2686_285+2695delTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628592	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02809.hp2 HG01167.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0088 a0001c0001t0017g0083 a0001c0001t0005g0088 a0001c0001t0017g0083	2	300	0.0067	-10	c.285 others(27): Show c.285+2672_285+2681delATATATTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628594	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG03471.hp2 others(2): Show HG01884.hp2 HG03041.hp2 HG03471.hp2 HG03486.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0004g0002 a0001c0001t0004g0042 a0001c0001t0005g0087 others(1): Show a0001c0001t0004g0002 a0001c0001t0004g0042 a0001c0001t0005g0087 a0001c0001t0006g0278	5	300	0.0167	-10	c.285 others(27): Show c.285+2670_285+2679delATATATATTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp2 NA20905.hp2 HG03017.hp2 HG03491.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0184 a0001c0001t0004g0218 a0001c0001t0005g0129 a0001c0001t0004g0184 a0001c0001t0004g0218 a0001c0001t0005g0129	3	300	0.0100	-10	c.285 others(27): Show c.285+2668_285+2677delATATATATAT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640052	GTACTATA others(3): Show GTACTATAATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0018 a0001c0001t0011g0019 a0001c0001t0009g0018 a0001c0001t0011g0019	2	300	0.0067	-10	c.91+ others(25): Show c.91+1280_91+1289delTATTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35642214	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0243 a0001c0001t0008g0243	1	300	0.0033	-10	c.-79 others(19): Show c.-792_-783delTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding		689		chr1	TogoVar
PSMB3_chr17_38747741_38769225	38751754	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02622.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0197 a0001c0001t0002g0198	2	431	0.0046	-10	c.-10 others(21): Show c.-1072_-1063delAAAAAAAAAA	PSMB3	ENSG00000277791.5	transcript	ENST00000619426.5	protein_coding		986		chr17	TogoVar
PSMB3_chr17_38747741_38769225	38755678	ATATATGT others(3): Show ATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02922.hp2 others(2): Show HG02559.hp2 HG02723.hp2 HG02922.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0021 a0001c0001t0003g0243 a0001c0001t0003g0244	5	431	0.0116	-10	c.189 others(25): Show c.189-203_189-194delATATGTGTGT	PSMB3	ENSG00000277791.5	transcript	ENST00000619426.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMB3_chr17_38747741_38769225	38755682	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	431	0.0023	-10	c.189 others(25): Show c.189-176_189-167delTGTGTGTGTG	PSMB3	ENSG00000277791.5	transcript	ENST00000619426.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMB4_chr1_151394573_151406937	151406619	ATCCAAGT others(3): Show ATCCAAGTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	396	0.0025	-10	c.47 others(21): Show c.4791_*4800delTCCAAGTGAG	PSMB4	ENSG00000159377.11	transcript	ENST00000290541.7	protein_coding		4683		chr1	TogoVar
PSMB5_chr14_23020856_23039900	23036217	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02004.hp1 others(32): Show HG01243.hp2 HG01891.hp2 HG02004.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18956.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19043.hp2 NA19055.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0027	35	404	0.0866	-10	c.-13 others(21): Show c.-1346_-1337delCACACACACA	PSMB5	ENSG00000100804.19	transcript	ENST00000361611.11	protein_coding		1318		chr14	TogoVar
PSMB6_chr17_4791164_4803495	4793610	GAGAAAAG others(3): Show GAGAAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(174): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0004t0001g0005 a0001c0007t0001g0001	177	454	0.3899	-10	c.-25 others(21): Show c.-2584_-2575delAGAAAAGAAA	PSMB6	ENSG00000142507.10	transcript	ENST00000270586.8	protein_coding		2553		chr17	TogoVar
PSMB6_chr17_4791164_4803495	4803416	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02145.hp1 others(3): Show HG01256.hp1 HG01258.hp2 HG02145.hp1 HG02559.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0001 a0001c0001t0001g0004 a0001c0002t0001g0001	6	454	0.0132	-10	c.49 others(21): Show c.4995_*5004delTTTTTTTTTT	PSMB6	ENSG00000142507.10	transcript	ENST00000270586.8	protein_coding		4922		chr17	TogoVar
PSMB7_chr9_124348465_124420442	124350501	GACACACA others(3): Show GACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02273.hp2 HG03041.hp1 others(1): Show HG02145.hp1 HG02273.hp2 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0233 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0294	4	408	0.0098	-10	c.30 others(21): Show c.3087_*3096delGTGTGTGTGT	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding		2963		chr9	TogoVar
PSMB7_chr9_124348465_124420442	124417388	AATTTTAT others(3): Show AATTTTATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0144 a0002c0002t0001g0145	2	408	0.0049	-10	c.-19 others(21): Show c.-1973_-1964delAAAATAAAAT	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding		1947		chr9	TogoVar
PSMB9_chr6_32849192_32864851	32861560	GCGGGTGG others(3): Show GCGGGTGGTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	455	0.0022	-10	c.20 others(21): Show c.2029_*2038delCGGGTGGTTC	PSMB9	ENSG00000240065.8	transcript	ENST00000374859.3	protein_coding		1710		chr6	TogoVar
PSMB9_chr6_32849192_32864851	32862734	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG06807.hp2 others(1): Show HG02451.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	4	455	0.0088	-10	c.32 others(21): Show c.3203_*3212delAAAAAAAAAA	PSMB9	ENSG00000240065.8	transcript	ENST00000374859.3	protein_coding		2884		chr6	TogoVar

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