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

Sampleids

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
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG02109.hp1 others(5): Show HG01261.hp1 HG01261.hp2 HG02109.hp1 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0075	a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0008g0104 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0008g0104 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0019g0048 a0001c0001t0019g0101 a0001c0001t0075g0063	8	218	0.0367	18	c.683 others(35): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6491836	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0026 a0001c0001t0015 a0001c0001t0026	a0001c0001t0015g0112 a0001c0001t0026g0148 a0001c0001t0015g0112 a0001c0001t0026g0148	2	218	0.0092	18	c.275 others(35): Show c.275-7545_275-7544insTTATATATATATATATAT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6505195	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02135.hp2 NA18947.hp2 others(2): Show HG02080.hp2 HG02135.hp2 NA18947.hp2 NA18969.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0009 a0002c0004t0008 a0002c0004t0014 others(2): Show a0001c0006t0009 a0002c0004t0008 a0002c0004t0014 a0002c0004t0025 a0002c0004t0043	a0001c0006t0009g0013 a0002c0004t0008g0080 a0002c0004t0014g0156 others(2): Show a0001c0006t0009g0013 a0002c0004t0008g0080 a0002c0004t0014g0156 a0002c0004t0025g0077 a0002c0004t0043g0079	5	218	0.0229	18	c.227 others(35): Show c.227-1639_227-1622dupATATATATATATATATAT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	3/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6541286	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG01167.hp1 others(6): Show HG01069.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01361.hp1 HG01884.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0004c0026	a0001c0001t0010 a0001c0001t0026 a0001c0002t0011 others(4): Show a0001c0001t0010 a0001c0001t0026 a0001c0002t0011 a0003c0008t0001 a0003c0008t0002 a0003c0008t0016 a0004c0026t0049	a0001c0001t0010g0147 a0001c0001t0026g0148 a0001c0002t0011g0146 others(6): Show a0001c0001t0010g0147 a0001c0001t0026g0148 a0001c0002t0011g0146 a0003c0008t0001g0102 a0003c0008t0002g0089 a0003c0008t0002g0108 a0003c0008t0002g0175 a0003c0008t0016g0119 a0004c0026t0049g0004	9	218	0.0413	18	c.23- others(33): Show c.23-3222_23-3205dupACACACACACACACACAC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	1/19			chr17	TogoVar
PITRM1_chr10_3132728_3177782	3133659	G G	GACCTCAG others(11): Show GACCTCAGGTGATTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02135.hp2 others(8): Show HG01243.hp1 HG02109.hp1 HG02135.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp2 HG02965.hp1 HG02970.hp1 NA18956.hp1 NA18973.hp1 NA19080.hp2	a0001 a0006 a0001 a0006	a0001c0011 a0001c0016 a0001c0054 others(2): Show a0001c0011 a0001c0016 a0001c0054 a0006c0017 a0006c0060	a0001c0011t0001 a0001c0016t0004 a0001c0054t0004 others(2): Show a0001c0011t0001 a0001c0016t0004 a0001c0054t0004 a0006c0017t0001 a0006c0060t0001	a0001c0011t0001g0054 a0001c0016t0004g0063 a0001c0016t0004g0064 others(8): Show a0001c0011t0001g0054 a0001c0016t0004g0063 a0001c0016t0004g0064 a0001c0016t0004g0066 a0001c0016t0004g0067 a0001c0054t0004g0065 a0006c0017t0001g0332 a0006c0017t0001g0334 a0006c0017t0001g0335 a0006c0017t0001g0336 a0006c0060t0001g0333	11	446	0.0247	18	c.43 others(29): Show c.4371_*4372insGGGTGAATCACCTGAGGT	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		4068		chr10	TogoVar
PITRM1_chr10_3132728_3177782	3171161	A A	AAAAAACA others(11): Show AAAAAACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0001 a0009c0034t0001	a0009c0034t0001g0145 a0009c0034t0001g0145	1	446	0.0022	18	c.57- others(31): Show c.57-956_57-955insGTTTTTGTTTTTGTTTTT	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	1/26			chr10	TogoVar
PITX3_chr10_102225189_102246512	102242928	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	410	0.0024	18	c.-16 others(29): Show c.-1609_-1608insTTTTTTTTTTTTTTTTTT	PITX3	ENSG00000107859.11	transcript	ENST00000370002.8	protein_coding		1417		chr10	TogoVar
PIWIL2_chr8_22270316_22362568	22351436	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01978.hp2 NA18989.hp2 others(4): Show HG00558.hp2 HG01978.hp2 NA18989.hp2 NA19011.hp2 NA19030.hp1 NA19075.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0167 a0001c0001t0003g0004 a0001c0001t0003g0262 others(4): Show a0001c0001t0001g0167 a0001c0001t0003g0004 a0001c0001t0003g0262 a0001c0001t0003g0265 a0001c0001t0004g0209 a0001c0001t0010g0230 a0001c0001t0010g0232	7	296	0.0237	18	c.240 others(37): Show c.2404-1520_2404-1519insTATATATATATATATATA	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PIWIL3_chr22_24714034_24779720	24757079	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19007.hp2 NA19089.hp2 HG02809.hp2 NA19007.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0007t0001g0365 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0007t0001g0365	3	386	0.0078	18	c.356 others(33): Show c.356-392_356-375dupTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757098	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp1 HG02559.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0188 a0001c0001t0001g0189	2	386	0.0052	18	c.356 others(33): Show c.356-394_356-393insCTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757615	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00741.hp2 others(6): Show HG00099.hp1 HG00140.hp2 HG00741.hp2 HG01975.hp2 HG02148.hp1 HG02683.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0018c0025 a0001c0001 a0002c0002 a0018c0025	a0001c0001t0001 a0002c0002t0001 a0018c0025t0002 a0001c0001t0001 a0002c0002t0001 a0018c0025t0002	a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 others(6): Show a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0345 a0002c0002t0001g0334 a0018c0025t0002g0094	9	386	0.0233	18	c.355 others(33): Show c.355+275_355+292dupGTGTGTGTGTGTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG03540.hp1 others(4): Show HG01884.hp1 HG02257.hp1 HG03540.hp1 HG03710.hp1 NA18522.hp1 NA19030.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0211 a0001c0001t0001g0234 a0001c0001t0001g0350 others(4): Show a0001c0001t0001g0211 a0001c0001t0001g0234 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0020t0001g0186	7	386	0.0181	18	c.103 others(33): Show c.103-809_103-792dupTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24764625	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG03540.hp2 others(6): Show HG00408.hp2 HG01123.hp1 HG03540.hp2 NA18957.hp1 NA18963.hp2 NA18971.hp1 NA19003.hp2 NA19062.hp2 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0005 a0001c0001 a0003c0003 a0003c0005	a0001c0001t0001 a0003c0003t0002 a0003c0005t0002 a0001c0001t0001 a0003c0003t0002 a0003c0005t0002	a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0246 others(6): Show a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0306 a0001c0001t0001g0314 a0003c0003t0002g0023 a0003c0005t0002g0022	9	386	0.0233	18	c.-22 others(35): Show c.-22-2122_-22-2105dupACACACACACACACACAC	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	1/20			chr22	TogoVar
PJA1_chrX_69155861_69170453	69169346	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA19009.hp1 HG02040.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	2	334	0.0060	18	c.-40 others(29): Show c.-4043_-4042insCTCTCTCTCTCTCTCTCT	PJA1	ENSG00000181191.12	transcript	ENST00000374571.5	protein_coding		3894		chrX	TogoVar
PJA2_chr5_109329722_109414974	109351252	C C	CCTTACAT others(11): Show CCTTACATTCATAAGATGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0010g0238 a0001c0001t0010g0239	2	346	0.0058	18	c.176 others(37): Show c.1764+4662_1764+4663insACATCTTATGAATGTAAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp1 NA18945.hp1 HG01175.hp2 HG01952.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0137 a0002c0002t0001g0321 a0002c0002t0001g0131 a0002c0002t0001g0137 a0002c0002t0001g0321	3	346	0.0087	18	c.128 others(37): Show c.1284-4177_1284-4160dupTTTTTTTTTTTTTTTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109409954	T T	TGTGGCGG others(11): Show TGTGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0340 a0003c0003t0023g0340	1	346	0.0029	18	c.-21 others(27): Show c.-218_-201dupCGCCGCCGCCGCCGCCAC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	1/10	26522		chr5	TogoVar
PJVK_chr2_178446378_178467102	178451126	G G	GCCACCTC others(11): Show GCCACCTCCTCCGACTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0052 a0003c0003t0004g0052	1	408	0.0025	18	c.-66 others(27): Show c.-666_-665insCCACCTCCTCCGACTCCC	PJVK	ENSG00000204311.15	transcript	ENST00000644580.2	protein_coding		251		chr2	TogoVar
PKD1L1_chr7_47769614_47953466	47910826	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02486.hp2 others(3): Show HG02055.hp2 HG02451.hp1 HG02486.hp2 HG03471.hp1 HG06807.hp1 NA19065.hp1	a0001 a0011 a0015 others(1): Show a0001 a0011 a0015 a0084	a0001c0038 a0011c0016 a0015c0014 others(2): Show a0001c0038 a0011c0016 a0015c0014 a0015c0079 a0084c0061	a0001c0038t0001 a0011c0016t0002 a0015c0014t0001 others(2): Show a0001c0038t0001 a0011c0016t0002 a0015c0014t0001 a0015c0079t0001 a0084c0061t0001	a0001c0038t0001g0025 a0011c0016t0002g0198 a0015c0014t0001g0023 others(3): Show a0001c0038t0001g0025 a0011c0016t0002g0198 a0015c0014t0001g0023 a0015c0014t0001g0024 a0015c0079t0001g0022 a0084c0061t0001g0015	6	306	0.0196	18	c.122 others(37): Show c.1229-2594_1229-2577dupCACACACACACACACACA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	8/56			chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71953400	A A	AGAGGTTT others(11): Show AGAGGTTTAATTGACTCAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0034 a0034	a0034c0078 a0034c0078	a0034c0078t0001 a0034c0078t0001	a0034c0078t0001g0274 a0034c0078t0001g0274	1	308	0.0033	18	c.281 others(35): Show c.2810-308_2810-307insGTGAGTCAATTAAACCTC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	17/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71976264	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19004.hp2 HG03225.hp1 NA19004.hp2	a0002 a0040 a0002 a0040	a0002c0002 a0040c0056 a0002c0002 a0040c0056	a0002c0002t0001 a0040c0056t0001 a0002c0002t0001 a0040c0056t0001	a0002c0002t0001g0058 a0040c0056t0001g0121 a0002c0002t0001g0058 a0040c0056t0001g0121	2	308	0.0065	18	c.175 others(35): Show c.1759+971_1759+972insAAAAAAAAAAAAAAAAAA	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	11/29			chr16	TogoVar
PKD1_chr16_2083708_2140898	2091214	C C	CGGGGCGG others(11): Show CGGGGCGGGGCCCTGCGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG02965.hp2 HG03453.hp2	a0015 a0015	a0015c0047 a0015c0059 a0015c0047 a0015c0059	a0015c0047t0009 a0015c0059t0009 a0015c0047t0009 a0015c0059t0009	a0015c0047t0009g0017 a0015c0059t0009g0018 a0015c0047t0009g0017 a0015c0059t0009g0018	2	216	0.0093	18	c.117 others(35): Show c.11713-58_11713-41dupCTCGCAGGGCCCCGCCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2091282	C C	CGGGGCGG others(11): Show CGGGGCGGGGCCCTGCGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0138 a0001c0006t0001g0138	1	216	0.0046	18	c.117 others(37): Show c.11712+123_11713-109dupCTCGCAGGGCCCCGCCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104174	C C	CAGGGGGA others(11): Show CAGGGGGAAAGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04228.hp1 HG03834.hp2 HG04228.hp1	a0002 a0004 a0002 a0004	a0002c0088 a0004c0002 a0002c0088 a0004c0002	a0002c0088t0003 a0004c0002t0001 a0002c0088t0003 a0004c0002t0001	a0002c0088t0003g0054 a0004c0002t0001g0107 a0002c0088t0003g0054 a0004c0002t0001g0107	2	216	0.0093	18	c.816 others(35): Show c.8162-297_8162-280dupTCCCCTCCCTTTCCCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104181	A A	AAAGGGAG others(11): Show AAAGGGAGGGGAAGGGGAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0032 a0032	a0032c0099 a0032c0099	a0032c0099t0001 a0032c0099t0001	a0032c0099t0001g0066 a0032c0099t0001g0066	1	216	0.0046	18	c.816 others(35): Show c.8162-287_8162-286insATCCCCTTCCCCTCCCTT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104200	T T	TAAGGGAG others(11): Show TAAGGGAGGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG00642.hp2 HG01099.hp1	a0001 a0003 a0001 a0003	a0001c0083 a0003c0076 a0001c0083 a0003c0076	a0001c0083t0001 a0003c0076t0001 a0001c0083t0001 a0003c0076t0001	a0001c0083t0001g0024 a0003c0076t0001g0025 a0001c0083t0001g0024 a0003c0076t0001g0025	2	216	0.0093	18	c.816 others(35): Show c.8161+280_8161+297dupTCCCCCTTCCCCTCCCTT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104451	A A	AGGGCGGC others(11): Show AGGGCGGCATGGGGCGGAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0110 a0006c0110	a0006c0110t0004 a0006c0110t0004	a0006c0110t0004g0014 a0006c0110t0004g0014	1	216	0.0046	18	c.816 others(33): Show c.8161+46_8161+47insGTCCGCCCCATGCCGCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104459	A A	ATGGGGCG others(11): Show ATGGGGCGGACGGGCCACG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG03195.hp2 HG02280.hp2 HG02630.hp2 HG03195.hp2	a0010 a0062 a0010 a0062	a0010c0010 a0062c0060 a0010c0010 a0062c0060	a0010c0010t0002 a0062c0060t0002 a0010c0010t0002 a0062c0060t0002	a0010c0010t0002g0192 a0010c0010t0002g0197 a0062c0060t0002g0196 a0010c0010t0002g0192 a0010c0010t0002g0197 a0062c0060t0002g0196	3	216	0.0139	18	c.816 others(33): Show c.8161+38_8161+39insCGTGGCCCGTCCGCCCCA	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100297702	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0282 a0003c0004t0001g0282	1	306	0.0033	18	c.732 others(32): Show c.732-114_732-97dupCACACACACACACACACA	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	4/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100306855	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	306	0.0033	18	c.350 others(35): Show c.350-7155_350-7138dupTTTTTTTTTTTTTTTTTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2_chr4_88002635_88082777	88054071	A A	ATAATAAT others(11): Show ATAATAATAATCAAGATAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG03540.hp2 others(1): Show HG02055.hp1 HG02109.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0088 a0001c0001t0001g0117 a0001c0001t0001g0010 a0001c0001t0001g0088 a0001c0001t0001g0117	4	342	0.0117	18	c.171 others(37): Show c.1716+1948_1717-1963dupAGTAATAATAATCAAGAT	PKD2	ENSG00000118762.8	transcript	ENST00000237596.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
PKD2_chr4_88002635_88082777	88060441	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18612.hp1 NA18952.hp2 others(5): Show HG02015.hp1 NA18612.hp1 NA18952.hp2 NA18954.hp1 NA18969.hp1 NA19000.hp1 NA19064.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0001c0001t0003 a0002c0003t0003	a0001c0001t0003g0249 a0001c0001t0003g0258 a0002c0003t0003g0058 others(5): Show a0001c0001t0003g0249 a0001c0001t0003g0258 a0002c0003t0003g0058 a0002c0003t0003g0070 a0002c0003t0003g0071 a0002c0003t0003g0074 a0002c0003t0003g0135 a0002c0003t0003g0136	8	342	0.0234	18	c.202 others(37): Show c.2020-1449_2020-1448insATATATATATATATATAT	PKD2	ENSG00000118762.8	transcript	ENST00000237596.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
PKDCC_chr2_42043021_42063517	42047932	A A	AGGCGGAG others(11): Show AGGCGGAGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02523.hp1 HG02717.hp2 others(22): Show HG02165.hp1 HG02523.hp1 HG02717.hp2 NA18942.hp2 NA18948.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18983.hp1 NA18999.hp2 NA19002.hp1 NA19010.hp2 NA19054.hp2 NA19058.hp2 NA19068.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0003t0002g0005 a0002c0002t0001g0044 a0002c0002t0002g0006 others(4): Show a0001c0003t0002g0005 a0002c0002t0001g0044 a0002c0002t0002g0006 a0002c0002t0002g0025 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0053	25	432	0.0579	18	c.-26 others(27): Show c.-268_-267insGGCGGAGGGGCGGGGGAG	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		88		chr2	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0004 a0022c0025t0004	a0022c0025t0004g0114 a0022c0025t0004g0114	1	282	0.0036	18	c.208 others(35): Show c.2085+752_2085+769dupTTTTTTTTTTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109487890	G G	GGAAGGAA others(11): Show GGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01516.hp1 HG01884.hp2 others(5): Show HG00140.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02258.hp2 HG02738.hp1 HG03516.hp1	a0001 a0003 a0012 others(2): Show a0001 a0003 a0012 a0020 a0054	a0001c0001 a0003c0003 a0012c0009 others(2): Show a0001c0001 a0003c0003 a0012c0009 a0020c0022 a0054c0040	a0001c0001t0007 a0003c0003t0003 a0012c0009t0004 others(2): Show a0001c0001t0007 a0003c0003t0003 a0012c0009t0004 a0020c0022t0004 a0054c0040t0003	a0001c0001t0007g0267 a0003c0003t0003g0165 a0003c0003t0003g0177 others(5): Show a0001c0001t0007g0267 a0003c0003t0003g0165 a0003c0003t0003g0177 a0012c0009t0004g0143 a0012c0009t0004g0146 a0012c0009t0004g0147 a0020c0022t0004g0122 a0054c0040t0003g0169	8	282	0.0284	18	c.988 others(37): Show c.9880+1069_9880+1070insGAAGGAAGGAAGGAAGGA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	59/77			chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109538047	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02895.hp1 HG03225.hp1 others(2): Show HG00741.hp2 HG02895.hp1 HG03225.hp1 HG04115.hp2 HG06807.hp1	a0007 a0021 a0058 others(1): Show a0007 a0021 a0058 a0061	a0007c0008 a0021c0026 a0058c0074 others(1): Show a0007c0008 a0021c0026 a0058c0074 a0061c0063	a0007c0008t0020 a0021c0026t0013 a0058c0074t0013 others(1): Show a0007c0008t0020 a0021c0026t0013 a0058c0074t0013 a0061c0063t0008	a0007c0008t0020g0052 a0021c0026t0013g0130 a0021c0026t0013g0131 others(2): Show a0007c0008t0020g0052 a0021c0026t0013g0130 a0021c0026t0013g0131 a0058c0074t0013g0024 a0061c0063t0008g0111	5	282	0.0177	18	c.79 others(29): Show c.7957_*7958insTTTTTTTTTTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding		841		chr8	TogoVar
PKHD1_chr6_51610299_52092613	51699920	A A	AGTGTGTA others(11): Show AGTGTGTATGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01106.hp2 others(9): Show HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp1 HG02015.hp1 HG02683.hp2 HG02818.hp1 NA18747.hp1 NA18964.hp1 NA18971.hp2 NA20129.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0009 a0010 a0015 a0020 a0030 a0036	a0001c0019 a0001c0022 a0003c0007 others(7): Show a0001c0019 a0001c0022 a0003c0007 a0004c0014 a0009c0087 a0010c0028 a0015c0025 a0020c0050 a0030c0055 a0036c0074	a0001c0019t0001 a0001c0022t0001 a0003c0007t0001 others(7): Show a0001c0019t0001 a0001c0022t0001 a0003c0007t0001 a0004c0014t0004 a0009c0087t0001 a0010c0028t0001 a0015c0025t0001 a0020c0050t0001 a0030c0055t0002 a0036c0074t0003	a0001c0019t0001g0118 a0001c0022t0001g0132 a0003c0007t0001g0037 others(9): Show a0001c0019t0001g0118 a0001c0022t0001g0132 a0003c0007t0001g0037 a0003c0007t0001g0043 a0004c0014t0004g0024 a0004c0014t0004g0033 a0009c0087t0001g0111 a0010c0028t0001g0009 a0015c0025t0001g0031 a0020c0050t0001g0023 a0030c0055t0002g0072 a0036c0074t0003g0108	12	134	0.0896	18	c.101 others(41): Show c.10157-39952_10157-39951insACACACACACATACACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	60/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51758014	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0004 a0014c0024t0001g0004	1	134	0.0075	18	c.864 others(37): Show c.8643-3094_8643-3077dupCTCTCTCTCTCTCTCTCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	55/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51903832	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03540.hp1 HG02818.hp2 HG03098.hp1 HG03540.hp1	a0005 a0008 a0011 a0005 a0008 a0011	a0005c0039 a0008c0018 a0011c0017 a0005c0039 a0008c0018 a0011c0017	a0005c0039t0001 a0008c0018t0020 a0011c0017t0005 a0005c0039t0001 a0008c0018t0020 a0011c0017t0005	a0005c0039t0001g0030 a0008c0018t0020g0074 a0011c0017t0005g0080 a0005c0039t0001g0030 a0008c0018t0020g0074 a0011c0017t0005g0080	3	134	0.0224	18	c.686 others(35): Show c.6866-123_6866-106dupATATATATATATATATAT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	42/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0100 a0001c0002t0009g0100	1	134	0.0075	18	c.590 others(37): Show c.5908+9649_5908+9650insATATATTTTTTTTTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03669.hp1 NA18747.hp1 others(1): Show HG02040.hp2 HG03669.hp1 NA18747.hp1 NA18964.hp2	a0001 a0004 a0014 others(1): Show a0001 a0004 a0014 a0015	a0001c0002 a0004c0008 a0014c0024 others(1): Show a0001c0002 a0004c0008 a0014c0024 a0015c0025	a0001c0002t0001 a0004c0008t0011 a0014c0024t0001 others(1): Show a0001c0002t0001 a0004c0008t0011 a0014c0024t0001 a0015c0025t0001	a0001c0002t0001g0113 a0004c0008t0011g0026 a0014c0024t0001g0004 others(1): Show a0001c0002t0001g0113 a0004c0008t0011g0026 a0014c0024t0001g0004 a0015c0025t0001g0031	4	134	0.0299	18	c.590 others(37): Show c.5908+9649_5908+9650insATATATATATATTTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02970.hp2 HG03669.hp2 others(8): Show HG00738.hp2 HG02970.hp2 HG03669.hp2 HG03704.hp1 HG04184.hp2 NA18747.hp2 NA19003.hp2 NA19005.hp1 NA19054.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0012 a0013	a0001c0002 a0001c0082 a0002c0004 others(7): Show a0001c0002 a0001c0082 a0002c0004 a0002c0033 a0002c0092 a0004c0046 a0004c0064 a0010c0030 a0012c0029 a0013c0095	a0001c0002t0001 a0001c0082t0001 a0002c0004t0004 others(7): Show a0001c0002t0001 a0001c0082t0001 a0002c0004t0004 a0002c0033t0002 a0002c0092t0004 a0004c0046t0002 a0004c0064t0003 a0010c0030t0001 a0012c0029t0002 a0013c0095t0014	a0001c0002t0001g0107 a0001c0002t0001g0117 a0001c0082t0001g0105 others(8): Show a0001c0002t0001g0107 a0001c0002t0001g0117 a0001c0082t0001g0105 a0002c0004t0004g0115 a0002c0033t0002g0017 a0002c0092t0004g0002 a0004c0046t0002g0050 a0004c0064t0003g0053 a0010c0030t0001g0007 a0012c0029t0002g0010 a0013c0095t0014g0122	11	134	0.0821	18	c.590 others(37): Show c.5908+9649_5908+9650insATATATATATATATTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18971.hp1 HG03471.hp1 NA18971.hp1	a0002 a0040 a0002 a0040	a0002c0020 a0040c0081 a0002c0020 a0040c0081	a0002c0020t0008 a0040c0081t0001 a0002c0020t0008 a0040c0081t0001	a0002c0020t0008g0110 a0040c0081t0001g0124 a0002c0020t0008g0110 a0040c0081t0001g0124	2	134	0.0149	18	c.590 others(37): Show c.5908+9649_5908+9650insATATATATATATATATTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52065168	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0013 a0010c0026t0001g0013	1	134	0.0075	18	c.881 others(33): Show c.881-136_881-119dupCTCTCTCTCTCTCTCTCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	12/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52065168	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0004 a0002c0021t0004	a0002c0021t0004g0128 a0002c0021t0004g0128	1	134	0.0075	18	c.881 others(33): Show c.881-119_881-118insCTCTCTCTCTATATATAT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	12/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78602713	A A	ATATATAT others(11): Show ATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0031 a0001c0001t0025g0031	1	186	0.0054	18	c.89 others(27): Show c.893_*894insATATATATATATATATTT	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4	894	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIB_chr6_122605405_122731373	122670498	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	312	0.0032	18	c.-75 others(35): Show c.-75-4568_-75-4551dupGTTGTTGTTGTTGTTGTT	PKIB	ENSG00000135549.16	transcript	ENST00000368452.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PKIG_chr20_44577579_44624037	44610500	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	300	0.0033	18	c.-23 others(35): Show c.-23-4022_-23-4005dupACACACACACACACACAC	PKIG	ENSG00000168734.14	transcript	ENST00000372886.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
PKLR_chr1_155284293_155306438	155299491	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG01109.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0045 a0001c0002t0002g0046	2	311	0.0064	18	c.283 others(33): Show c.283+589_283+606dupAAAAAAAAAAAAAAAAAA	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10			chr1	TogoVar
PKN1_chr19_14428306_14476859	14442065	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0219 a0001c0007t0001g0219	1	376	0.0027	18	c.322 others(33): Show c.322+628_322+645dupTTTTTTTTTTTTTTTTTT	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar

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