JoGo: Joint Open Genome and Omics Platform

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	status	chr	external
PHEX_chrX_22027325_22256310	22077574	GTT GTT	G G	frameshift_variant frameshift_variant	HIGH	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0104 a0003c0005t0002g0104	1	231	0.0043	-2	c.537 others(9): Show c.537_538delTT	p.Trp others(5): Show p.Trp180fs	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	5/22	1218/6288	537/2250	179/749	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF1_chr6_33406014_33421439	33414485	CACCCCCA others(3): Show CACCCCCAAAG	C C	frameshift_variant frameshift_variant	HIGH	NA18975.hp1 NA18975.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	363	0.0028	-10	c.886 others(17): Show c.886_895delACCCCCAAAG	p.Thr others(5): Show p.Thr296fs	PHF1	ENSG00000112511.18	transcript	ENST00000374516.8	protein_coding	10/15	1104/2263	886/1704	296/567		chr6	TogoVar
PHF8_chrX_53931680_54049473	54014491	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18982.hp1 NA18982.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0087 a0005c0008t0001g0087	1	186	0.0054	1	c.668 others(8): Show c.668_669insC	p.Glu others(5): Show p.Glu223fs	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	7/22	1472/6357	668/3075	223/1024		chrX	TogoVar
PHF8_chrX_53931680_54049473	54016637	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18982.hp1 NA18982.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0087 a0005c0008t0001g0087	1	186	0.0054	1	c.553 others(4): Show c.553dupG	p.Glu others(5): Show p.Glu185fs	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	6/22	1357/6357	553/3075	185/1024		chrX	TogoVar
PHF8_chrX_53931680_54049473	54022275	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18984.hp1 NA18984.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0051 a0006c0005t0001g0051	1	186	0.0054	-1	c.276 others(4): Show c.276delG	p.Ser others(4): Show p.Ser93fs	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	4/22	1080/6357	276/3075	92/1024		chrX	TogoVar
PHF8_chrX_53931680_54049473	54022338	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0058 a0007c0004t0001g0058	1	186	0.0054	-1	c.213 others(4): Show c.213delG	p.His others(4): Show p.His72fs	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	4/22	1017/6357	213/3075	71/1024		chrX	TogoVar
PHF8_chrX_53931680_54049473	54042676	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0164 a0003c0003t0011g0164	1	186	0.0054	1	c.52d others(3): Show c.52dupC	p.Arg others(4): Show p.Arg18fs	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	2/22	856/6357	52/3075	18/1024		chrX	TogoVar
PHKA1_chrX_72573814_72719306	72653480	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA18991.hp1 NA18991.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0091 a0003c0007t0001g0091	1	237	0.0042	-1	c.109 others(5): Show c.1091delA	p.Asn others(5): Show p.Asn364fs	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	11/32	1517/6286	1091/3672	364/1223		chrX	TogoVar
PHKA1_chrX_72573814_72719306	72712838	CCAGG CCAGG	C C	frameshift_variant frameshift_variant	HIGH	NA18951.hp2 NA18951.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0206 a0006c0009t0001g0206	1	237	0.0042	-4	c.174 others(11): Show c.174_177delCCTG	p.Leu others(4): Show p.Leu59fs	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	2/32	603/6286	174/3672	58/1223		chrX	TogoVar
PHKA1_chrX_72573814_72719306	72712924	C C	CCA CCA	frameshift_variant frameshift_variant	HIGH	HG01934.hp1 HG01934.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0207 a0007c0010t0001g0207	1	237	0.0042	2	c.90_ others(7): Show c.90_91dupTG	p.Gly others(4): Show p.Gly31fs	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	2/32	517/6286	91/3672	31/1223		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18894278	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0100 a0005c0016t0001g0100	1	201	0.0050	1	c.346 others(5): Show c.3462dupG	p.Met others(6): Show p.Met1155fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	32/33	3644/5077	3462/3708	1154/1235		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18894345	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0100 a0005c0016t0001g0100	1	201	0.0050	1	c.339 others(5): Show c.3395dupC	p.Gln others(6): Show p.Gln1133fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	32/33	3577/5077	3395/3708	1132/1235		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18895181	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18949.hp1 NA18949.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0099 a0007c0014t0001g0099	1	201	0.0050	1	c.329 others(5): Show c.3292dupC	p.Leu others(6): Show p.Leu1098fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	31/33	3474/5077	3292/3708	1098/1235		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18897263	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0100 a0005c0016t0001g0100	1	201	0.0050	1	c.318 others(10): Show c.3181_3182insA	p.Gly others(6): Show p.Gly1061fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	30/33	3363/5077	3181/3708	1061/1235		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18901541	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0100 a0005c0016t0001g0100	1	201	0.0050	-1	c.297 others(5): Show c.2970delC	p.Gly others(5): Show p.Gly991fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	27/33	3152/5077	2970/3708	990/1235		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18905782	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0100 a0005c0016t0001g0100	1	201	0.0050	1	c.288 others(5): Show c.2883dupG	p.Lys others(5): Show p.Lys962fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	26/33	3065/5077	2883/3708	961/1235		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18906578	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0192 a0009c0012t0001g0192	1	201	0.0050	1	c.272 others(10): Show c.2722_2723insG	p.Leu others(5): Show p.Leu908fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	25/33	2904/5077	2722/3708	908/1235		chrX	TogoVar
PHKA2_chrX_18887298_18989114	18925753	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0063 a0010c0008t0001g0063	1	201	0.0050	1	c.148 others(10): Show c.1483_1484insC	p.Ser others(5): Show p.Ser495fs	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	15/33	1665/5077	1483/3708	495/1235		chrX	TogoVar
PHLDA3_chr1_201459278_201474188	201468544	GCCGCCCC others(33): Show GCCGCCCCCTTCGGTCACCAGCGTGAAGTAGATGTGGCGCC	G G	frameshift_variant frameshift_variant	HIGH	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0058 a0004c0005t0025g0058	1	442	0.0023	-40	c.203 others(47): Show c.203_242delGGCGCCACATCTACTTCACGCTGGTGACCGAAGGGGGC GG	p.Gly others(4): Show p.Gly68fs	PHLDA3	ENSG00000174307.7	transcript	ENST00000367311.5	protein_coding	1/2	644/2749	203/384	68/127		chr1	TogoVar
PHTF1_chr1_113691831_113764486	113705236	TCGAGACA others(905): Show TCGAGACAAGACTGGGCAACAAAGTAAGACCTCACCTCTACAAAAATACA AAAAATTAGTCGGGTGTGGTGGCGCAGGCCTGTAGTCCCAGCTACTGGGG AGGCTGAGCTGGAAGGACTGCTTGATCCTCAGGAGGTCAAGGCTGGAGTG AGCCGTGATCACACCACTACACTCCAACCTGGGCAATAGAACAACACCCG GTCTCAAAAAATAAAATAAAATAAATCACACTTCTTCTGCATATCACCAA TATTTTAAACCCTCCATCCATAATTTTTATCAAATTTCAATAAATTTATT TCTCACTTGGCCATTTTTCACAAAAACATTATCACATGTAGATAATTATT TTATTCTATGGATAAAAAACAAAAAAGGGACACTGAGGTGCAGATGCTAA GCAGTCGGCTAGGCTCACTCACTGGCTAAGCCACTTATTCTACACATGAG GCCTGGCAAAATTTCAGATTACAACGTGTAATATGTAAATAGTCAATAAC ACAAACAATAAATCCACAAATATCAAAAGTCCACTTATCAATCCTTTATT GCCCACATCAACTTGAAGAGAGACCAAATCAAGAGAACAAAAGCAACTCA ATGGAATATCATATACAAAAACAGGTAAAAAATTTTCCTTATTTCTCCAC TGACCTGTTTATATGTTCTCTCTGCCACACACATCATGAAAAAAAACATC CAAGTAAGACACAATCTTTCAAAAAAATTAATTATCGACAAAACAATAAT AGGTGTAACAGGTGGTGCCCCACAAAAGAGAGTCAAGATCTCCTCAGCTG AAATGGACTTTAGTTGGTCAAGGCTCTTCTCACGGAAAAGTCGATGTAAG AATGGAAAAAATGCTAATCCAATAGTGACAACATTTCCCAGCATCTGATA ACCTACTCCTTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0017 a0003c0005t0012g0017	1	330	0.0030	-912	c.141 others(13): Show c.1413_1672-440del	p.Gln others(5): Show p.Gln472fs	PHTF1	ENSG00000116793.16	transcript	ENST00000369604.6	protein_coding	13/19		1413/2289	471/762		chr1	TogoVar
PHYKPL_chr5_178203471_178237802	178222877	C C	CAGGGGGA others(3): Show CAGGGGGAATG	frameshift_variant frameshift_variant	HIGH	NA18949.hp2 NA18949.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0121 a0006c0006t0001g0121	1	440	0.0023	10	c.666 others(17): Show c.666_675dupCATTCCCCCT	p.Ala others(5): Show p.Ala226fs	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding	7/13	927/2081	675/1353	225/450		chr5	TogoVar
PICK1_chr22_38052404_38080701	38065015	CCCCAGCA others(22): Show CCCCAGCAGCCTTGGACGGCACAGTGGCAG	C C	frameshift_variant frameshift_variant	HIGH	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0078 a0003c0005t0001g0078	1	428	0.0023	-29	c.169 others(36): Show c.169_197delCCAGCAGCCTTGGACGGCACAGTGGCAGC	p.Pro others(4): Show p.Pro57fs	PICK1	ENSG00000100151.16	transcript	ENST00000356976.8	protein_coding	4/13	410/2058	169/1248	57/415	INFO_REALIGN_3_PRIME	chr22	TogoVar
PIDD1_chr11_794184_810231	801099	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01109.hp2 HG01433.hp1 others(6): Show HG00597.hp2 HG01109.hp2 HG01433.hp1 HG01516.hp1 HG03098.hp1 HG03516.hp2 NA19078.hp2 NA19083.hp1 NA19090.hp2	a0006 a0010 a0011 others(1): Show a0006 a0010 a0011 a0017	a0006c0010 a0006c0026 a0010c0015 others(2): Show a0006c0010 a0006c0026 a0010c0015 a0011c0017 a0017c0031	a0006c0010t0001 a0006c0026t0001 a0010c0015t0001 others(2): Show a0006c0010t0001 a0006c0026t0001 a0010c0015t0001 a0011c0017t0003 a0017c0031t0001	a0006c0010t0001g0039 a0006c0010t0001g0042 a0006c0010t0001g0072 others(4): Show a0006c0010t0001g0039 a0006c0010t0001g0042 a0006c0010t0001g0072 a0006c0026t0001g0055 a0010c0015t0001g0028 a0011c0017t0003g0021 a0017c0031t0001g0063	9	408	0.0221	1	c.165 others(5): Show c.1651dupC	p.Arg others(5): Show p.Arg551fs	PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding	10/16	1779/2984	1651/2733	551/910		chr11	TogoVar
PIERCE1_chr9_135490181_135504869	135495573	C C	CCACCTCC others(48): Show CCACCTCCAGCCACCCATACAGTCCTACCCGATCCATCCACCTAGCAGCC AGAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00733.hp2 HG00733.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0031 a0006c0006t0001g0031	1	422	0.0024	55	c.264 others(62): Show c.264_265insTTTTCTGGCTGCTAGGTGGATGGATCGGGTAGGACTGT ATGGGTGGCTGGAGGTG	p.Ala others(4): Show p.Ala89fs	PIERCE1	ENSG00000160345.13	transcript	ENST00000429260.7	protein_coding	3/3	282/675	264/411	88/136		chr9	TogoVar
PIEZO1_chr16_88710338_88790220	88732372	T T	TGTACAAA others(4): Show TGTACAAAATTA	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0064 a0064	a0064c0096 a0064c0096	a0064c0096t0002 a0064c0096t0002	a0064c0096t0002g0131 a0064c0096t0002g0131	1	282	0.0036	11	c.295 others(20): Show c.2953_2954insTAATTTTGTAC	p.Tyr others(5): Show p.Tyr985fs	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/51	3209/8089	2953/7566	985/2521		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88736406	T T	TACCTGCG others(54): Show TACCTGCGTGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAG GCGATGCCCCAC	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01891.hp2 HG01891.hp2	a0065 a0065	a0065c0095 a0065c0095	a0065c0095t0001 a0065c0095t0001	a0065c0095t0001g0127 a0065c0095t0001g0127	1	282	0.0036	61	c.129 others(70): Show c.1298_1299insGTGGGGCATCGCCTGGGTGGGGTGCGCTGGGCAGCT GTGCAGCCCTCTCTGCCACGCAGGT	p.Ser others(5): Show p.Ser435fs	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	12/51	1554/8089	1298/7566	433/2521		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88736406	TACCTGCG others(54): Show TACCTGCGCGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAG GCGATGCCCCAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03209.hp1 HG03209.hp1	a0045 a0045	a0045c0138 a0045c0138	a0045c0138t0001 a0045c0138t0001	a0045c0138t0001g0272 a0045c0138t0001g0272	1	282	0.0036	-61	c.129 others(73): Show c.1297-59_1298delGTGGGGCATCGCCTGGGTGGGGTGCGCTGGGCA GCTGTGCAGCCCTCTCTGCCGCGCAGGT	p.Val others(5): Show p.Val433fs	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	12/51	1554/8089	1297/7566	433/2521		chr16	TogoVar
PIGB_chr15_55314222_55360648	55355277	T T	TGCTTCTA others(4): Show TGCTTCTAGATA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19089.hp2 NA19089.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0005 a0010c0012t0005	a0010c0012t0005g0220 a0010c0012t0005g0220	1	376	0.0027	11	c.151 others(22): Show c.1519-1_1519insATAGCTTCTAG	p.Glu others(5): Show p.Glu507fs	PIGB	ENSG00000069943.10	transcript	ENST00000164305.10	protein_coding	12/12	1548/1910	1519/1665	507/554	INFO_REALIGN_3_PRIME	chr15	TogoVar
PIGQ_chr16_564968_589109	574588	AGTGAGGT others(6): Show AGTGAGGTGCTCTT	A A	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0002 a0009c0021t0002	a0009c0021t0002g0294 a0009c0021t0002g0294	1	408	0.0025	-13	c.515 others(20): Show c.515_527delGTGAGGTGCTCTT	p.Ser others(5): Show p.Ser172fs	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	2/11	653/2958	515/1746	172/581		chr16	TogoVar
PIGS_chr17_28548387_28576524	28554895	CCAGAAGC others(39): Show CCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGGTGGCTGTGGCCAGG	C C	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0014 a0005c0006t0014	a0005c0006t0014g0146 a0005c0006t0014g0146	1	330	0.0030	-46	c.130 others(55): Show c.1302_1347delCCTGGCCACAGCCACCACCACCCTTACCTCCCTGGC GCAGCTTCTG	p.Asn others(5): Show p.Asn434fs	PIGS	ENSG00000087111.22	transcript	ENST00000308360.8	protein_coding	11/12	1375/2529	1302/1668	434/555		chr17	TogoVar
PIGW_chr17_36529987_36544303	36537753	G G	GCCATTAT others(28): Show GCCATTATAAAATCAATAGGCTATCAGGAACATTTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0022 a0003c0006t0022	a0003c0006t0022g0002 a0003c0006t0022g0002	1	403	0.0025	35	c.653 others(42): Show c.653_687dupCCATTATAAAATCAATAGGCTATCAGGAACATTTA	p.Thr others(5): Show p.Thr230fs	PIGW	ENSG00000277161.2	transcript	ENST00000614443.2	protein_coding	2/2	1302/2816	688/1515	230/504	INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGX_chr3_196707377_196741007	196730994	TTCCCGAT others(4): Show TTCCCGATTTTG	T T	frameshift_variant frameshift_variant	HIGH	NA18940.hp2 NA18940.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0107 a0006c0010t0009g0107	1	416	0.0024	-11	c.536 others(18): Show c.536_546delTCCCGATTTTG	p.Phe others(5): Show p.Phe179fs	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/6	692/3038	536/777	179/258		chr3	TogoVar
PIGX_chr3_196707377_196741007	196731010	GCTGGGCT others(3): Show GCTGGGCTCAC	G G	frameshift_variant frameshift_variant	HIGH	NA18940.hp2 NA18940.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0107 a0006c0010t0009g0107	1	416	0.0024	-10	c.552 others(17): Show c.552_561delCTGGGCTCAC	p.Trp others(5): Show p.Trp185fs	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/6	708/3038	552/777	184/258		chr3	TogoVar
PIGX_chr3_196707377_196741007	196731049	A A	ACCTGAAG others(19): Show ACCTGAAGCCTAGGCTTGTATTAAACT	frameshift_variant frameshift_variant	HIGH	NA18940.hp2 NA18940.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0107 a0006c0010t0009g0107	1	416	0.0024	26	c.590 others(33): Show c.590_591insCCTGAAGCCTAGGCTTGTATTAAACT	p.Glu others(5): Show p.Glu197fs	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/6	747/3038	591/777	197/258		chr3	TogoVar
PIK3R1_chr5_68210756_68306821	68273462	TGGAAGCC others(7): Show TGGAAGCCATTGAAA	T T	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0025 a0004c0014t0025	a0004c0014t0025g0101 a0004c0014t0025g0101	1	308	0.0033	-14	c.408 others(21): Show c.408_421delGGAAGCCATTGAAA	p.Ala others(5): Show p.Ala138fs	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	3/16	988/6975	408/2175	136/724		chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46043761	T T	TGGTAATG others(18): Show TGGTAATGGAGCACTAGCTCCTTCAG	frameshift_variant frameshift_variant	HIGH	NA18959.hp1 NA18959.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0005 a0000c0006t0005	a0000c0006t0005g0014 a0000c0006t0005g0014	1	318	0.0031	25	c.127 others(34): Show c.1273_1297dupCTGAAGGAGCTAGTGCTCCATTACC	p.Gln others(5): Show p.Gln433fs	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	10/10	1974/5596	1297/1386	433/461		chr1	TogoVar
PIM2_chrX_48908182_48924024	48917809	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0026 a0002c0002t0010g0026	1	278	0.0036	1	c.193 others(4): Show c.193dupC	p.Arg others(4): Show p.Arg65fs	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding	3/6	383/2075	193/936	65/311		chrX	TogoVar
PIM2_chrX_48908182_48924024	48917825	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0026 a0002c0002t0010g0026	1	278	0.0036	-1	c.177 others(4): Show c.177delC	p.Ile others(4): Show p.Ile60fs	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding	3/6	367/2075	177/936	59/311		chrX	TogoVar
PIM2_chrX_48908182_48924024	48918795	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0071 a0003c0004t0019g0071	1	278	0.0036	1	c.39d others(3): Show c.39dupC	p.Gly others(4): Show p.Gly14fs	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding	1/6	229/2075	39/936	13/311		chrX	TogoVar
PIM2_chrX_48908182_48924024	48918804	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0071 a0003c0004t0019g0071	1	278	0.0036	-1	c.30d others(3): Show c.30delC	p.Ala others(4): Show p.Ala11fs	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding	1/6	220/2075	30/936	10/311		chrX	TogoVar
PIN1_chr19_9830318_9854689	9849130	GCGGACGG others(4): Show GCGGACGGGGGA	G G	frameshift_variant frameshift_variant	HIGH	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	422	0.0024	-11	c.424 others(18): Show c.424_434delCGGACGGGGGA	p.Arg others(5): Show p.Arg142fs	PIN1	ENSG00000127445.14	transcript	ENST00000247970.9	protein_coding	4/4	451/1009	424/492	142/163		chr19	TogoVar
PIN4_chrX_72176757_72203340	72181799	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0142 a0003c0004t0001g0142	1	307	0.0033	1	c.19d others(3): Show c.19dupA	p.Ser others(3): Show p.Ser7fs	PIN4	ENSG00000102309.15	transcript	ENST00000373669.8	protein_coding	1/4	49/1239	20/396	7/131	INFO_REALIGN_3_PRIME	chrX	TogoVar
PIN4_chrX_72176757_72203340	72186497	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0034 a0004c0005t0004g0034	1	307	0.0033	-1	c.82d others(3): Show c.82delG	p.Ala others(4): Show p.Ala28fs	PIN4	ENSG00000102309.15	transcript	ENST00000373669.8	protein_coding	2/4	111/1239	82/396	28/131	INFO_REALIGN_3_PRIME	chrX	TogoVar
PIR_chrX_15379799_15498333	15491239	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0270 a0004c0005t0007g0270	1	272	0.0037	1	c.18d others(3): Show c.18dupA	p.Val others(3): Show p.Val7fs	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/10	214/1274	18/873	6/290		chrX	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGCAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02280.hp2 HG03225.hp2 HG02280.hp2 HG03225.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0001 a0009c0034t0001	a0009c0034t0001g0145 a0009c0034t0001g0146 a0009c0034t0001g0145 a0009c0034t0001g0146	2	446	0.0045	25	c.271 others(32): Show c.271_272insCATTGCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037		chr10	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGGAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0014	a0001c0001 a0001c0002 a0001c0005 others(43): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0003c0008 a0003c0010 a0003c0035 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0067 a0006c0017 a0006c0060 a0014c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(44): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0001 a0001c0013t0001 a0001c0015t0002 a0001c0016t0004 a0001c0019t0005 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0033t0001 a0001c0044t0002 a0001c0045t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0004 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0003c0008t0001 a0003c0010t0001 a0003c0035t0001 a0003c0062t0001 a0003c0063t0001 a0003c0064t0001 a0003c0065t0001 a0003c0066t0001 a0003c0067t0001 a0006c0017t0001 a0006c0060t0001 a0014c0036t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(208): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0309 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0041 a0001c0005t0002g0042 a0001c0005t0002g0126 a0001c0005t0002g0127 a0001c0005t0002g0236 a0001c0005t0002g0237 a0001c0005t0002g0238 a0001c0005t0002g0285 a0001c0005t0002g0287 a0001c0005t0002g0289 a0001c0005t0002g0290 a0001c0005t0002g0292 a0001c0005t0002g0293 a0001c0005t0002g0294 a0001c0005t0002g0295 a0001c0005t0002g0297 a0001c0005t0002g0298 a0001c0005t0002g0301 a0001c0005t0002g0302 a0001c0005t0002g0304 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0009t0001g0018 a0001c0009t0001g0079 a0001c0009t0001g0111 a0001c0009t0001g0129 a0001c0009t0001g0130 a0001c0009t0001g0132 a0001c0011t0001g0054 a0001c0011t0001g0056 a0001c0011t0001g0057 a0001c0011t0001g0069 a0001c0011t0001g0143 a0001c0011t0003g0078 a0001c0012t0001g0019 a0001c0012t0001g0128 a0001c0012t0001g0135 a0001c0012t0001g0136 a0001c0013t0001g0253 a0001c0013t0001g0258 a0001c0013t0001g0260 a0001c0013t0001g0271 a0001c0013t0001g0276 a0001c0015t0002g0284 a0001c0015t0002g0288 a0001c0015t0002g0296 a0001c0015t0002g0299 a0001c0016t0004g0063 a0001c0016t0004g0064 a0001c0016t0004g0066 a0001c0016t0004g0067 a0001c0019t0005g0020 a0001c0019t0005g0120 a0001c0020t0001g0141 a0001c0020t0001g0142 a0001c0020t0001g0144 a0001c0021t0001g0055 a0001c0021t0001g0058 a0001c0021t0001g0092 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0028t0002g0300 a0001c0028t0002g0303 a0001c0029t0001g0032 a0001c0030t0001g0038 a0001c0031t0003g0061 a0001c0031t0003g0062 a0001c0032t0001g0045 a0001c0033t0001g0131 a0001c0033t0001g0134 a0001c0044t0002g0291 a0001c0045t0002g0308 a0001c0046t0001g0137 a0001c0047t0001g0261 a0001c0048t0001g0108 a0001c0049t0001g0100 a0001c0050t0001g0070 a0001c0051t0001g0273 a0001c0052t0001g0248 a0001c0053t0001g0072 a0001c0054t0004g0065 a0001c0055t0001g0140 a0001c0056t0001g0133 a0001c0057t0001g0071 a0001c0058t0001g0110 a0003c0008t0001g0049 a0003c0008t0001g0050 a0003c0008t0001g0339 a0003c0008t0001g0341 a0003c0008t0001g0343 a0003c0008t0001g0344 a0003c0008t0001g0345 a0003c0008t0001g0348 a0003c0010t0001g0047 a0003c0010t0001g0338 a0003c0010t0001g0347 a0003c0010t0001g0349 a0003c0010t0001g0351 a0003c0010t0001g0353 a0003c0035t0001g0048 a0003c0062t0001g0342 a0003c0063t0001g0352 a0003c0064t0001g0354 a0003c0065t0001g0346 a0003c0066t0001g0340 a0003c0067t0001g0350 a0006c0017t0001g0332 a0006c0017t0001g0334 a0006c0017t0001g0335 a0006c0017t0001g0336 a0006c0060t0001g0333 a0014c0036t0002g0286	280	446	0.6278	25	c.271 others(32): Show c.271_272insCATTCCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037		chr10	TogoVar
PKD1L3_chr16_71924538_72005402	71933978	GGCTCGGC others(10): Show GGCTCGGCTCAGTGTCCT	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0176 a0001c0068t0001g0176	1	308	0.0033	-17	c.474 others(26): Show c.4744_4760delAGGACACTGAGCCGAGC	p.Arg others(6): Show p.Arg1582fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	27/30	5184/5623	4744/5199	1582/1732		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71947511	CTTTG CTTTG	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(61): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 NA18906.hp1 NA18941.hp2 NA19043.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0003 a0004 a0006 others(10): Show a0003 a0004 a0006 a0011 a0013 a0023 a0025 a0032 a0038 a0045 a0047 a0055 a0058	a0003c0004 a0003c0016 a0003c0072 others(16): Show a0003c0004 a0003c0016 a0003c0072 a0003c0074 a0003c0075 a0004c0043 a0006c0006 a0011c0012 a0011c0053 a0013c0014 a0013c0059 a0023c0022 a0025c0029 a0032c0079 a0038c0060 a0045c0049 a0047c0051 a0055c0036 a0058c0033	a0003c0004t0001 a0003c0016t0001 a0003c0072t0001 others(16): Show a0003c0004t0001 a0003c0016t0001 a0003c0072t0001 a0003c0074t0001 a0003c0075t0001 a0004c0043t0001 a0006c0006t0001 a0011c0012t0001 a0011c0053t0001 a0013c0014t0001 a0013c0059t0001 a0023c0022t0001 a0025c0029t0001 a0032c0079t0001 a0038c0060t0002 a0045c0049t0001 a0047c0051t0001 a0055c0036t0001 a0058c0033t0001	a0003c0004t0001g0033 a0003c0004t0001g0146 a0003c0004t0001g0159 others(61): Show a0003c0004t0001g0033 a0003c0004t0001g0146 a0003c0004t0001g0159 a0003c0004t0001g0163 a0003c0004t0001g0191 a0003c0004t0001g0192 a0003c0004t0001g0196 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0234 a0003c0004t0001g0236 a0003c0004t0001g0237 a0003c0004t0001g0238 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0247 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0016t0001g0049 a0003c0016t0001g0190 a0003c0016t0001g0242 a0003c0016t0001g0243 a0003c0016t0001g0244 a0003c0072t0001g0266 a0003c0074t0001g0149 a0003c0075t0001g0235 a0004c0043t0001g0137 a0006c0006t0001g0032 a0006c0006t0001g0035 a0006c0006t0001g0036 a0006c0006t0001g0037 a0006c0006t0001g0038 a0006c0006t0001g0039 a0006c0006t0001g0040 a0006c0006t0001g0041 a0006c0006t0001g0042 a0006c0006t0001g0044 a0006c0006t0001g0045 a0006c0006t0001g0046 a0011c0012t0001g0129 a0011c0012t0001g0138 a0011c0012t0001g0139 a0011c0012t0001g0140 a0011c0012t0001g0141 a0011c0012t0001g0142 a0011c0053t0001g0108 a0013c0014t0001g0055 a0013c0014t0001g0056 a0013c0014t0001g0078 a0013c0014t0001g0119 a0013c0014t0001g0120 a0013c0059t0001g0130 a0023c0022t0001g0009 a0023c0022t0001g0021 a0025c0029t0001g0001 a0032c0079t0001g0256 a0038c0060t0002g0302 a0045c0049t0001g0073 a0047c0051t0001g0077 a0055c0036t0001g0020 a0058c0033t0001g0010	64	308	0.2078	-4	c.369 others(13): Show c.3695_3698delCAAA	p.Thr others(6): Show p.Thr1232fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/30	4122/5623	3695/5199	1232/1732		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71951585	C C	CCCTGCTG others(13): Show CCCTGCTGATGACAGCCTTGA	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0176 a0001c0068t0001g0176	1	308	0.0033	20	c.316 others(29): Show c.3168_3169insTCAAGGCTGTCATCAGCAGG	p.Gly others(6): Show p.Gly1057fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	19/30	3592/5623	3168/5199	1056/1732		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71999722	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01891.hp1 HG02886.hp2 HG02895.hp1 others(2): Show HG01891.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1	a0014 a0014	a0014c0082 a0014c0083 a0014c0084 others(2): Show a0014c0082 a0014c0083 a0014c0084 a0014c0085 a0014c0086	a0014c0082t0001 a0014c0083t0001 a0014c0084t0001 others(2): Show a0014c0082t0001 a0014c0083t0001 a0014c0084t0001 a0014c0085t0001 a0014c0086t0001	a0014c0082t0001g0292 a0014c0083t0001g0289 a0014c0084t0001g0288 others(2): Show a0014c0082t0001g0292 a0014c0083t0001g0289 a0014c0084t0001g0288 a0014c0085t0001g0290 a0014c0086t0001g0291	5	308	0.0162	-1	c.256 others(4): Show c.256delG	p.Val others(4): Show p.Val86fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	1/30	680/5623	256/5199	86/1732		chr16	TogoVar

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