Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
PIGK_chr1_77083989_77224430	77222429	T T	TCTGCCTT others(29): Show TCTGCCTTAGCAGAGGTCGTGCATGAGGGCCCTGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	366	0.0027	36	c.-30 others(47): Show c.-3028_-3027insGGGCAGGGCCCTCATGCACGACCTCTGCTAAGGC AG	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding		3000		chr1	TogoVar
PIGN_chr18_62036164_62192056	62062882	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG02145.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0027 a0002c0002t0007 a0002c0002t0027	a0002c0002t0007g0038 a0002c0002t0027g0077 a0002c0002t0007g0038 a0002c0002t0027g0077	2	342	0.0059	36	c.267 others(55): Show c.2672+9790_2672+9791insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGQ_chr16_564968_589109	587367	A A	ATCCCTCC others(29): Show ATCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(204): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19059.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0009 a0010	a0001c0002 a0001c0004 a0001c0008 others(7): Show a0001c0002 a0001c0004 a0001c0008 a0003c0003 a0003c0020 a0003c0026 a0004c0005 a0007c0028 a0009c0021 a0010c0027	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(17): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0015 a0001c0004t0004 a0001c0004t0006 a0001c0004t0014 a0001c0008t0004 a0001c0008t0016 a0003c0003t0003 a0003c0003t0006 a0003c0003t0008 a0003c0003t0013 a0003c0020t0003 a0003c0026t0003 a0004c0005t0002 a0007c0028t0002 a0009c0021t0002 a0010c0027t0003	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 others(147): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0081 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0003g0162 a0001c0002t0003g0232 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0006g0084 a0001c0002t0006g0124 a0001c0002t0006g0137 a0001c0002t0006g0180 a0001c0002t0006g0181 a0001c0002t0006g0190 a0001c0002t0006g0203 a0001c0002t0006g0217 a0001c0002t0006g0239 a0001c0002t0006g0322 a0001c0002t0015g0001 a0001c0004t0004g0044 a0001c0004t0004g0053 a0001c0004t0004g0059 a0001c0004t0004g0323 a0001c0004t0004g0324 a0001c0004t0004g0329 a0001c0004t0004g0331 a0001c0004t0004g0333 a0001c0004t0006g0242 a0001c0004t0006g0244 a0001c0004t0014g0330 a0001c0008t0004g0325 a0001c0008t0004g0328 a0001c0008t0016g0326 a0003c0003t0003g0012 a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0051 a0003c0003t0003g0054 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0067 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0076 a0003c0003t0003g0079 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0320 a0003c0003t0006g0013 a0003c0003t0006g0077 a0003c0003t0006g0080 a0003c0003t0008g0055 a0003c0003t0008g0074 a0003c0003t0008g0075 a0003c0003t0013g0013 a0003c0020t0003g0083 a0003c0026t0003g0078 a0004c0005t0002g0001 a0004c0005t0002g0272 a0004c0005t0002g0273 a0004c0005t0002g0274 a0007c0028t0002g0030 a0009c0021t0002g0294 a0010c0027t0003g0068	207	408	0.5074	36	c.43 others(47): Show c.4332_*4333insTCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTC CG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		3259		chr16	TogoVar
PIGZ_chr3_196941356_196973833	196960737	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	424	0.0024	36	c.-1+ others(51): Show c.-1+7949_-1+7950insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	384	0.0026	36	c.18 others(45): Show c.185_*186insATATATATATATATATATATATTTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG00741.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	384	0.0052	36	c.18 others(45): Show c.185_*186insATATATATATATATATATATATATTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA18968.hp1 NA19091.hp1 others(1): Show HG02735.hp2 NA18968.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025	4	384	0.0104	36	c.18 others(45): Show c.185_*186insATATATATATATATATATATATATATTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96628881	T T	TACACACA others(29): Show TACACACACACATATATACATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	256	0.0039	36	c.137 others(53): Show c.1376-389_1376-388insGTGTGTGTGTATATATATGTATATATGT GTGTGTGT	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	8/16			chr10	TogoVar
PIK3C3_chr18_41950234_42092830	42076149	T T	TATATATA others(29): Show TATATATATATATATATGCACATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04228.hp1 HG03831.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0055 a0001c0001t0002 a0001c0001t0055	a0001c0001t0002g0063 a0001c0001t0055g0264 a0001c0001t0002g0063 a0001c0001t0055g0264	2	340	0.0059	36	c.265 others(55): Show c.2650-4962_2650-4961insATATGCACATATATATATATGCGCAT ATATATATAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3R1_chr5_68210756_68306821	68262856	G G	GATACATG others(29): Show GATACATGTATACATGTAGATACATGTAGATACATGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19062.hp1 NA19005.hp2 NA19062.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0035 a0002c0004t0035	a0002c0004t0035g0194 a0002c0004t0035g0195 a0002c0004t0035g0194 a0002c0004t0035g0195	2	308	0.0065	36	c.335 others(55): Show c.335-10527_335-10492dupGTATACATGTAGATACATGTAGATAC ATGTATACAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262863	G G	GTATACAT others(29): Show GTATACATGTAGATACATGTAGATACATGTATACATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03942.hp1 NA20752.hp2 HG00544.hp2 HG03942.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0047 a0002c0003t0169 a0002c0004t0008 a0001c0001t0047 a0002c0003t0169 a0002c0004t0008	a0001c0001t0047g0254 a0002c0003t0169g0053 a0002c0004t0008g0201 a0001c0001t0047g0254 a0002c0003t0169g0053 a0002c0004t0008g0201	3	308	0.0097	36	c.335 others(55): Show c.335-10326_335-10291dupGATACATGTATACATATATACATGTA GATACATGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R2_chr19_18148163_18175532	18169490	T T	TCTCCCTG others(29): Show TCTCCCTGTCCTTTTTTTTTTCTTTGTTTTTCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0153 a0003c0006t0008g0153	1	334	0.0030	36	c.19 others(45): Show c.199_*200insCCTGTCCTTTTTTTTTTCTTTGTTTTTCCCCCCCTC	PIK3R2	ENSG00000105647.19	transcript	ENST00000222254.13	protein_coding	16/16	200	INFO_REALIGN_3_PRIME	chr19	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(29): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0005 a0001c0003t0006g0005	1	318	0.0031	36	c.315 others(53): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(29): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02886.hp1 HG00741.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0006 a0001c0001t0003 a0001c0003t0006	a0001c0001t0003g0049 a0001c0003t0006g0004 a0001c0001t0003g0049 a0001c0003t0006g0004	2	318	0.0063	36	c.315 others(53): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(29): Show TATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0009 a0001c0003t0006g0009	1	318	0.0031	36	c.315 others(53): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTATATATATATAT ATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68920359	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0182 a0001c0007t0008g0182	1	220	0.0046	36	c.111 others(53): Show c.1116+656_1116+657insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIPOX_chr17_29038141_29062216	29039613	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	396	0.0025	36	c.-36 others(47): Show c.-3613_-3612insATATATATATATATATATATATATATATATATAT AT	PIPOX	ENSG00000179761.12	transcript	ENST00000323372.9	protein_coding		3527		chr17	TogoVar
PIR_chrX_15379799_15498333	15381893	G G	GTATTAGT others(29): Show GTATTAGTAAGCATAGAATGAAAAAAATTGCTAATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(233): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005 a0005c0008 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0002c0003t0003 a0003c0004t0001 a0004c0005t0007 a0005c0008t0001 a0006c0007t0003 a0007c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(231): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0003g0096 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0157 a0001c0001t0003g0171 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0005g0008 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0129 a0001c0002t0001g0137 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0003g0070 a0001c0002t0003g0093 a0001c0002t0003g0131 a0001c0002t0003g0144 a0001c0002t0003g0229 a0001c0002t0005g0007 a0002c0003t0003g0020 a0002c0003t0003g0095 a0002c0003t0003g0100 a0003c0004t0001g0238 a0003c0004t0001g0239 a0004c0005t0007g0270 a0005c0008t0001g0098 a0006c0007t0003g0027 a0007c0006t0001g0109	236	272	0.8677	36	c.31 others(47): Show c.3110_*3111insTGATTAGCAATTTTTTTCATTCTATGCTTACTAA TA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding		2905		chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67413401	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01891.hp1 others(8): Show HG00140.hp2 HG00639.hp2 HG01891.hp1 HG02280.hp2 HG02622.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03654.hp2 NA18975.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0035 a0001c0001t0068	a0001c0001t0002g0106 a0001c0001t0005g0157 a0001c0001t0007g0075 others(8): Show a0001c0001t0002g0106 a0001c0001t0005g0157 a0001c0001t0007g0075 a0001c0001t0007g0107 a0001c0001t0010g0135 a0001c0001t0014g0016 a0001c0001t0018g0049 a0001c0001t0019g0085 a0001c0001t0022g0052 a0001c0001t0035g0053 a0001c0001t0068g0045	11	218	0.0505	36	c.48+ others(53): Show c.48+35230_48+35231insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(29): Show GCGCGCGCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0123 a0001c0001t0011g0123	1	218	0.0046	36	c.48+ others(53): Show c.48+46992_48+46993insGCGCGCGCGCACACACACACACACACAC ACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(29): Show GCGCGCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	218	0.0046	36	c.48+ others(53): Show c.48+46992_48+46993insGCGCGCGCGCGCGCGCGCACACACACAC ACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494183	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0069 a0001c0001t0071g0069	1	218	0.0046	36	c.49- others(53): Show c.49-38618_49-38617insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTCTTT others(29): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0025 a0001c0001t0027g0025	1	218	0.0046	36	c.49- others(53): Show c.49-38616_49-38615insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(29): Show TTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0215 a0001c0001t0041g0215	1	218	0.0046	36	c.49- others(53): Show c.49-38616_49-38615insCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(29): Show TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0143 a0001c0001t0048g0143	1	218	0.0046	36	c.49- others(53): Show c.49-38616_49-38615insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTTT others(29): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG01071.hp1 others(12): Show HG00408.hp2 HG00438.hp1 HG01071.hp1 HG01109.hp1 HG01192.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG02622.hp2 HG04199.hp1 NA18953.hp1 NA18953.hp2 NA18982.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0037	a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0210 others(12): Show a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0001t0002g0117 a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0004g0099 a0001c0001t0004g0130 a0001c0001t0010g0199 a0001c0001t0013g0077 a0001c0001t0016g0044 a0001c0001t0018g0049 a0001c0001t0027g0020 a0001c0001t0037g0018	15	218	0.0688	36	c.49- others(53): Show c.49-38616_49-38615insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	218	0.0046	36	c.49- others(53): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6491836	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03540.hp1 HG00423.hp1 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0013 a0001c0003 a0004c0013	a0001c0003t0057 a0004c0013t0026 a0001c0003t0057 a0004c0013t0026	a0001c0003t0057g0188 a0004c0013t0026g0075 a0001c0003t0057g0188 a0004c0013t0026g0075	2	218	0.0092	36	c.275 others(53): Show c.275-7545_275-7544insTTATATATATATATATATATATATATAT ATATATAT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19			chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757669	C C	CACACACA others(29): Show CACACACACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	386	0.0026	36	c.355 others(51): Show c.355+238_355+239insAATATATACATATTTTATATATATGTGTGT GTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	386	0.0026	36	c.103 others(51): Show c.103-792_103-791insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20			chr22	TogoVar
PJA2_chr5_109329722_109414974	109354259	G G	GATATCTA others(29): Show GATATCTATATCTAGAGATATCTATAGATTGATATCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG01891.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0031 a0001c0001t0005g0032	2	346	0.0058	36	c.176 others(55): Show c.1764+1655_1764+1656insAGATATCAATCTATAGATATCTCTAG ATATAGATAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	432	0.0023	36	c.-40 others(47): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA GA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42047923	T T	TGGAGGCG others(29): Show TGGAGGCGGAGGTGGAGGCGGAGGCGGAGGCGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18981.hp2 NA19081.hp1 HG02165.hp2 NA18981.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0083 a0001c0001t0001g0001 a0001c0001t0001g0083	3	432	0.0069	36	c.-27 others(45): Show c.-277_-276insGGAGGCGGAGGTGGAGGCGGAGGCGGAGGCGGAGGA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		97		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42047932	A A	AGGCGGAG others(29): Show AGGCGGAGGCGGAGGAGGAGGCGGAGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0008 a0001c0003t0012g0008	1	432	0.0023	36	c.-26 others(45): Show c.-268_-267insGGCGGAGGCGGAGGAGGAGGCGGAGGGGCGGGGGAG	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		88		chr2	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(29): Show CTTTTCTTTTTCTTTTTTTTTTTGTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	282	0.0036	36	c.208 others(53): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTGTTTTTTGTT TTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(29): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTGTGTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0207 a0001c0001t0029g0207	1	282	0.0036	36	c.208 others(53): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTGTGTT TTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(29): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02735.hp1 NA19070.hp1 HG01952.hp2 HG02735.hp1 NA19070.hp1	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0004c0004 a0018c0021 a0001c0001 a0004c0004 a0018c0021	a0001c0001t0011 a0004c0004t0001 a0018c0021t0038 a0001c0001t0011 a0004c0004t0001 a0018c0021t0038	a0001c0001t0011g0213 a0004c0004t0001g0240 a0018c0021t0038g0245 a0001c0001t0011g0213 a0004c0004t0001g0240 a0018c0021t0038g0245	3	282	0.0106	36	c.208 others(53): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTTGTTT TTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(29): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00642.hp1 others(29): Show HG00140.hp1 HG00544.hp2 HG00642.hp1 HG01081.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG01993.hp1 HG02083.hp1 HG03139.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18944.hp2 NA18949.hp1 NA18952.hp2 NA18966.hp2 NA18981.hp1 NA18984.hp2 NA18997.hp1 NA18999.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19085.hp2 NA20752.hp2 NA20805.hp2	a0001 a0004 a0031 others(1): Show a0001 a0004 a0031 a0032	a0001c0001 a0001c0020 a0001c0053 others(4): Show a0001c0001 a0001c0020 a0001c0053 a0004c0004 a0004c0050 a0031c0054 a0032c0056	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(7): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0027 a0001c0020t0002 a0001c0053t0011 a0004c0004t0001 a0004c0050t0040 a0031c0054t0003 a0032c0056t0004	a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 others(29): Show a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0010g0192 a0001c0001t0011g0212 a0001c0001t0011g0254 a0001c0001t0027g0228 a0001c0020t0002g0253 a0001c0053t0011g0214 a0004c0004t0001g0196 a0004c0004t0001g0238 a0004c0004t0001g0248 a0004c0004t0001g0249 a0004c0004t0001g0266 a0004c0050t0040g0247 a0031c0054t0003g0203 a0032c0056t0004g0257	32	282	0.1135	36	c.208 others(53): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTTTGTT TTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(29): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	282	0.0036	36	c.208 others(53): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTTTTGT TTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1_chr6_51610299_52092613	51981314	T T	TCCCCTCT others(29): Show TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	134	0.0075	36	c.575 others(57): Show c.5752-21289_5752-21288insGAGAGGGGAGAGGGGAGAGGGGAG AGGGGAGAGGGG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981323	C C	CTCTCCCT others(29): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp1 HG02976.hp2 HG03540.hp1	a0009 a0011 a0009 a0011	a0009c0054 a0011c0017 a0009c0054 a0011c0017	a0009c0054t0001 a0011c0017t0005 a0009c0054t0001 a0011c0017t0005	a0009c0054t0001g0082 a0011c0017t0005g0080 a0009c0054t0001g0082 a0011c0017t0005g0080	2	134	0.0149	36	c.575 others(57): Show c.5752-21298_5752-21297insCGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981347	C C	CTCTCCCT others(29): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	134	0.0075	36	c.575 others(57): Show c.5752-21322_5752-21321insCGGAGACGGAGAGGGAGAGGGAGA GGGAGAGGGAGA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78602694	A A	AATACATA others(29): Show AATACATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0012 a0001c0001t0015g0012	1	186	0.0054	36	c.87 others(45): Show c.876_*877insCATATATATATATATATATATATATATATATATATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4	877	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIA_chr8_78511340_78610267	78602713	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0124 a0001c0001t0019g0124	1	186	0.0054	36	c.89 others(45): Show c.893_*894insATATATATATATATATATATATATATATTTTTTTTT	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4	894	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKN1_chr19_14428306_14476859	14465399	C C	CTCTTTTT others(29): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0012	1	376	0.0027	36	c.173 others(55): Show c.1731+1247_1731+1248insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKNOX2_chr11_125159751_125438389	125178569	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	222	0.0045	36	c.-20 others(57): Show c.-201+13820_-201+13821insAGAAAGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02523.hp1 HG01952.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0002g0032 a0001c0001t0001g0016 a0001c0001t0002g0032	2	222	0.0090	36	c.-20 others(57): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 homoSapiens_chm13v2.hp1 HG03927.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0112 a0001c0001t0001g0015 a0001c0001t0001g0112	2	222	0.0090	36	c.-20 others(57): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAAGAAGGAA GGAAGGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178716	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAGAAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	222	0.0045	36	c.-20 others(57): Show c.-201+13943_-201+13944insAAGAAAGAAAGAAAGAAAGAGAAA GGAAGGAAGAGA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125222640	T T	TGTGTGTG others(29): Show TGTGTGTGCATGTGTATGTGTGTGCATATGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02895.hp2 others(1): Show HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0003t0005	a0001c0001t0002g0179 a0001c0001t0006g0178 a0001c0001t0008g0134 others(1): Show a0001c0001t0002g0179 a0001c0001t0006g0178 a0001c0001t0008g0134 a0001c0003t0005g0181	4	222	0.0180	36	c.-20 others(57): Show c.-200-12402_-200-12401insTGTGCATGTGTATGTGTGTGCATA TGTGTGTGCGTG	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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