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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0146 a0002c0001t0002g0151 a0002c0001t0002g0146 a0002c0001t0002g0151	2	158	0.0127	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0087 a0001c0087	a0001c0087t0001 a0001c0087t0001	a0001c0087t0001g0033 a0001c0087t0001g0033	1	158	0.0063	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATATATATGTGTGTGTGTGT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(41): Show ATGTGTGTGTATATATATATATATATACACACACACATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0005 a0001 a0005	a0001c0047 a0005c0008 a0001c0047 a0005c0008	a0001c0047t0002 a0005c0008t0001 a0001c0047t0002 a0005c0008t0001	a0001c0047t0002g0144 a0005c0008t0001g0027 a0001c0047t0002g0144 a0005c0008t0001g0027	2	158	0.0127	48	c.330 others(67): Show c.330-14954_330-14953insCACACACATATATGTGTGTGTGTATA TATATATATATATACACACACA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(41): Show ATGTGTGTGTGTATATATATATATACACACACATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0093 a0001c0021t0002g0093	1	158	0.0063	48	c.330 others(67): Show c.330-14954_330-14953insCACACACACATATATATGTGTGTGTA TATATATATATACACACACACA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(41): Show CATATATATATATATATATGTATGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG02809.hp2 HG03453.hp2	a0001 a0008 a0001 a0008	a0001c0065 a0008c0068 a0001c0065 a0008c0068	a0001c0065t0002 a0008c0068t0001 a0001c0065t0002 a0008c0068t0001	a0001c0065t0002g0003 a0008c0068t0001g0153 a0001c0065t0002g0003 a0008c0068t0001g0153	2	158	0.0127	48	c.330 others(67): Show c.330-15073_330-15072insATATATATATATATATATATATATAC ATACATATATATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(41): Show CATATATATATATATATATGTATGTGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0156 a0001c0024t0001g0156	1	158	0.0063	48	c.330 others(67): Show c.330-15073_330-15072insATATATATATATATATATATATACAC ATACATATATATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(41): Show CATATATATATATATATGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	158	0.0063	48	c.330 others(67): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATATACATATATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(41): Show CATATATATATATATGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0017 a0022 a0017 a0022	a0017c0016 a0022c0035 a0017c0016 a0022c0035	a0017c0016t0003 a0022c0035t0001 a0017c0016t0003 a0022c0035t0001	a0017c0016t0003g0015 a0022c0035t0001g0014 a0017c0016t0003g0015 a0022c0035t0001g0014	2	158	0.0127	48	c.330 others(67): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATATATACATATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(41): Show CATATATATATATATGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0003 a0001c0059t0003	a0001c0059t0003g0110 a0001c0059t0003g0110	1	158	0.0063	48	c.330 others(67): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATATACACATATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(41): Show CATATATATATATGTGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0087 a0002c0001t0001g0087	1	158	0.0063	48	c.330 others(67): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATATATACACATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar
PIGG_chr4_494210_545200	535406	G G	GTGTGTGC others(41): Show GTGTGTGCTGAAACCGCGCGCCGCGGCCCGGCCTCCTCCCCGGCGTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0051 a0006c0005t0002g0051	1	362	0.0028	48	c.273 others(67): Show c.2735+1425_2735+1426insTGTGTGCTGAAACCGCGCGCCGCGGC CCGGCCTCCTCCCCGGCGTCTC		PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding	12/12						chr4	TogoVar
PIGG_chr4_494210_545200	535424	C C	CGCCGCGG others(41): Show CGCCGCGGCCCGGCCTCCTCCCCGGCGTCTCCGTGTGCTGAAACCGCGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00621.hp2 others(87): Show HG00099.hp2 HG00423.hp2 HG00621.hp2 HG00642.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0010 a0017	a0002c0002 a0002c0007 a0002c0028 others(6): Show a0002c0002 a0002c0007 a0002c0028 a0003c0003 a0004c0004 a0005c0009 a0006c0005 a0010c0010 a0017c0020	a0002c0002t0002 a0002c0007t0002 a0002c0028t0002 others(8): Show a0002c0002t0002 a0002c0007t0002 a0002c0028t0002 a0003c0003t0002 a0004c0004t0002 a0004c0004t0009 a0005c0009t0002 a0005c0009t0007 a0006c0005t0002 a0010c0010t0002 a0017c0020t0002	a0002c0002t0002g0017 a0002c0002t0002g0025 a0002c0002t0002g0028 others(81): Show a0002c0002t0002g0017 a0002c0002t0002g0025 a0002c0002t0002g0028 a0002c0002t0002g0074 a0002c0002t0002g0082 a0002c0002t0002g0101 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0137 a0002c0002t0002g0154 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0178 a0002c0002t0002g0189 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0225 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0282 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0007t0002g0103 a0002c0007t0002g0107 a0002c0007t0002g0108 a0002c0007t0002g0126 a0002c0007t0002g0148 a0002c0028t0002g0271 a0003c0003t0002g0020 a0003c0003t0002g0212 a0004c0004t0002g0013 a0004c0004t0002g0093 a0004c0004t0002g0094 a0004c0004t0002g0110 a0004c0004t0002g0112 a0004c0004t0002g0113 a0004c0004t0002g0114 a0004c0004t0002g0209 a0004c0004t0009g0068 a0005c0009t0002g0320 a0005c0009t0007g0281 a0006c0005t0002g0022 a0006c0005t0002g0163 a0006c0005t0002g0231 a0006c0005t0002g0232 a0006c0005t0002g0286 a0010c0010t0002g0295 a0017c0020t0002g0089	90	362	0.2486	48	c.273 others(67): Show c.2735+1443_2735+1444insGCCGCGGCCCGGCCTCCTCCCCGGCG TCTCCGTGTGCTGAAACCGCGA		PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding	12/12						chr4	TogoVar
PIGG_chr4_494210_545200	535424	C C	CGCCGGGG others(41): Show CGCCGGGGCCCGGCCTCCTCCCCGGCGTCTCCGTGTGCTGAAACCGCGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18971.hp1 NA18942.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	362	0.0055	48	c.273 others(67): Show c.2735+1443_2735+1444insGCCGGGGCCCGGCCTCCTCCCCGGCG TCTCCGTGTGCTGAAACCGCGA		PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding	12/12						chr4	TogoVar
PIGQ_chr16_564968_589109	579458	A A	ATGCCCCG others(41): Show ATGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0327 a0002c0001t0001g0327	1	408	0.0025	48	c.133 others(65): Show c.1335+346_1335+393dupAGAGGTGCCCCGGGCCCGGAGACTAGAG GTGCCCCGGGCCCGGAGACT		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGZ_chr3_196941356_196973833	196949005	T T	TCTTCCCC others(41): Show TCTTCCCCTCCCCTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02630.hp1 others(3): Show HG01891.hp1 HG02451.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0023 a0001c0001 a0001c0004 a0001c0023	a0001c0001t0001 a0001c0004t0001 a0001c0023t0001 a0001c0001t0001 a0001c0004t0001 a0001c0023t0001	a0001c0001t0001g0328 a0001c0004t0001g0056 a0001c0004t0001g0057 others(3): Show a0001c0001t0001g0328 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0061 a0001c0004t0001g0337 a0001c0023t0001g0329	6	424	0.0142	48	c.212 others(63): Show c.212-321_212-320insGGAAGGAAGGGAGGGGAGGGGAAGGGAAGG AAGGGAGGGGAGGGGAAG		PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2						chr3	TogoVar
PIK3R1_chr5_68210756_68306821	68262928	T T	TATACATG others(41): Show TATACATGTAGATACATGTAGATACATGTATACATGTAGATACATGTAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0053 a0002c0004t0053	a0002c0004t0053g0191 a0002c0004t0053g0191	1	308	0.0033	48	c.335 others(67): Show c.335-10456_335-10455insGTAGATACATGTAGATACATGTATAC ATGTAGATACATGTAGATACAT		PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68263132	G G	GATACATA others(41): Show GATACATATATATTTATATATGTACATATATCTACATATATATCTATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0172 a0002c0004t0008g0172	1	308	0.0033	48	c.335 others(67): Show c.335-10247_335-10200dupATTTATATATGTACATATATCTACAT ATATATCTATATATACATATAT		PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(41): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	318	0.0031	48	c.315 others(65): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATATATAT		PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9						chr1	TogoVar
PIMREG_chr17_6439455_6456469	6453032	G G	GTCTTTCT others(41): Show GTCTTTCTTTCTCCCTCTCTCTCTCTGCCTTCCTCTCTCTGTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG02109.hp2 others(13): Show HG01109.hp1 HG01167.hp1 HG02109.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 others(1): Show a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 a0001c0005t0004	a0001c0002t0004g0006 a0001c0002t0004g0027 a0001c0002t0004g0056 others(8): Show a0001c0002t0004g0006 a0001c0002t0004g0027 a0001c0002t0004g0056 a0001c0002t0004g0075 a0001c0002t0004g0081 a0001c0002t0004g0093 a0001c0002t0004g0095 a0001c0002t0004g0097 a0001c0002t0011g0139 a0001c0002t0015g0006 a0001c0005t0004g0096	16	312	0.0513	48	c.26 others(59): Show c.2685_*2686insTCTTTCTTTCTCCCTCTCTCTCTCTGCCTTCCTC TCTCTGTCTTCCTT		PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding					1564		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6453032	G G	GTCTTTCT others(41): Show GTCTTTCTTTCTCCCTCTCTCTGTCTGCCTTCCTCTCTCTGTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0006 a0001c0002t0004g0006	1	312	0.0032	48	c.26 others(59): Show c.2685_*2686insTCTTTCTTTCTCCCTCTCTCTGTCTGCCTTCCTC TCTCTGTCTTCCTT		PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding					1564		chr17	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(41): Show CATATATATATATATACATATATATATATATACATATATATATACGTAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0010 a0002c0006t0009g0010	1	206	0.0049	48	c.144 others(67): Show c.144+50134_144+50135insATACGTATATATATATGTATATATAT ATATATGTATATATATATATAT		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9						chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(41): Show CATATATATATATATACGTATATATATATATACATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0037 a0001c0005t0010g0037	1	206	0.0049	48	c.144 others(67): Show c.144+50134_144+50135insACGTATATATATATATGTATATATAT ATATACGTATATATATATATAT		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9						chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664078	T T	TACACATA others(41): Show TACACATATATATATACGTATATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0002 a0002c0006t0003g0002	1	206	0.0049	48	c.144 others(67): Show c.144+50104_144+50105insGTATATATATATATGTATATATATAT ATATACGTATATATATATGTGT		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9						chr10	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTCTTT others(41): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0048 a0001c0001t0019g0048	1	218	0.0046	48	c.49- others(65): Show c.49-38616_49-38615insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT		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(41): Show TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0045 a0001c0001t0068g0045	1	218	0.0046	48	c.49- others(65): Show c.49-38616_49-38615insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT		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(41): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01993.hp2 others(1): Show HG01167.hp2 HG01169.hp2 HG01993.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0051 a0001c0001t0001 a0001c0001t0014 a0001c0001t0051	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0014g0034 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0014g0034 a0001c0001t0051g0138	4	218	0.0184	48	c.49- others(65): Show c.49-38616_49-38615insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp1 HG02647.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0007 a0001c0001t0017	a0001c0001t0007g0127 a0001c0001t0017g0062 a0001c0001t0007g0127 a0001c0001t0017g0062	2	218	0.0092	48	c.49- others(65): Show c.49-38586_49-38585insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6453032	G G	GTCTTTCT others(41): Show GTCTTTCTTTCTCCCTCTCTCTCTCTGCCTTCCTCTCTCTGTCTTCCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG02622.hp1 others(10): Show HG01167.hp2 HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03540.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0009 a0004c0013	a0001c0001t0006 a0001c0001t0026 a0001c0002t0052 others(6): Show a0001c0001t0006 a0001c0001t0026 a0001c0002t0052 a0001c0007t0006 a0001c0007t0027 a0001c0007t0035 a0001c0007t0051 a0002c0009t0006 a0004c0013t0026	a0001c0001t0006g0035 a0001c0001t0006g0128 a0001c0001t0026g0148 others(10): Show a0001c0001t0006g0035 a0001c0001t0006g0128 a0001c0001t0026g0148 a0001c0002t0052g0003 a0001c0007t0006g0022 a0001c0007t0006g0025 a0001c0007t0027g0026 a0001c0007t0027g0034 a0001c0007t0035g0072 a0001c0007t0051g0177 a0002c0009t0006g0063 a0002c0009t0006g0113 a0004c0013t0026g0075	13	218	0.0596	48	c.22 others(59): Show c.2258_*2305dupAAGGAAGACAGAGAGAGGAAGGCAGAGAGAGAGA GGGAGAAAGAAAGA		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	20/20				2305		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6505195	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0132 a0001c0002t0031g0132	1	218	0.0046	48	c.227 others(65): Show c.227-1622_227-1621insATATATATATATATATATATATATATAT ATATATATATATATATATAT		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	3/19						chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757637	C C	CACATATA others(41): Show CACATATATAAAATATGTATATATTACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp2 others(54): Show HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02523.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03704.hp1 HG03710.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19083.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp2	a0001 a0011 a0017 others(1): Show a0001 a0011 a0017 a0025	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0022 a0011c0015 a0017c0024 a0025c0023	a0001c0001t0001 a0001c0001t0009 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0006t0001 a0001c0006t0010 a0001c0007t0001 a0001c0022t0001 a0011c0015t0001 a0017c0024t0001 a0025c0023t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(53): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0349 a0001c0001t0009g0368 a0001c0006t0001g0008 a0001c0006t0001g0202 a0001c0006t0001g0241 a0001c0006t0001g0251 a0001c0006t0001g0258 a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0006t0001g0282 a0001c0006t0010g0369 a0001c0007t0001g0270 a0001c0007t0001g0304 a0001c0007t0001g0305 a0001c0022t0001g0209 a0011c0015t0001g0260 a0011c0015t0001g0281 a0017c0024t0001g0291 a0025c0023t0001g0267	57	386	0.1477	48	c.355 others(63): Show c.355+270_355+271insATGTGTGTGTGTGTGTGTGTGTGTAATATA TACATATTTTATATATGT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20						chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757659	T T	TACACACA others(41): Show TACACACACACACACACACACATATATATAAAATATGTATATATTACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0327 a0002c0002t0001g0327	1	386	0.0026	48	c.355 others(63): Show c.355+248_355+249insGTGTAATATATACATATTTTATATATATGT GTGTGTGTGTGTGTGTGT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20						chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757659	T T	TACACACA others(41): Show TACACACACACACACACACATATATATAAAATATGTATATATTACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp1 HG00408.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0307 a0001c0001t0001g0248 a0001c0001t0001g0307	2	386	0.0052	48	c.355 others(63): Show c.355+248_355+249insGTGTGTAATATATACATATTTTATATATAT GTGTGTGTGTGTGTGTGT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20						chr22	TogoVar
PKD1L3_chr16_71924538_72005402	71948261	T T	TTAGTAGA others(41): Show TTAGTAGAGACACGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0106 a0004c0009t0001g0106	1	308	0.0033	48	c.361 others(65): Show c.3619-718_3619-671dupGGAGTTTGAGACCAGCCTGGCCAACATG GCGAAACCGTGTCTCTACTA		PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	21/29						chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(41): Show GGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0200 a0004c0005t0001g0200	1	306	0.0033	48	c.349 others(67): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02451.hp2 HG03471.hp2 others(1): Show HG02300.hp1 HG02451.hp2 HG03471.hp2 NA19065.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0014 a0007c0010 a0002c0002 a0002c0014 a0007c0010	a0002c0002t0001 a0002c0002t0002 a0002c0014t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0014t0002 a0007c0010t0002	a0002c0002t0001g0017 a0002c0002t0002g0029 a0002c0014t0002g0002 others(1): Show a0002c0002t0001g0017 a0002c0002t0002g0029 a0002c0014t0002g0002 a0007c0010t0002g0052	4	432	0.0093	48	c.-40 others(59): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA		PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding					3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02970.hp2 HG03130.hp2 others(3): Show HG00558.hp2 HG02970.hp2 HG03130.hp2 NA18971.hp1 NA18998.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0007 a0002c0002t0002 a0001c0004t0007 a0002c0002t0002	a0001c0004t0007g0016 a0001c0004t0007g0088 a0002c0002t0002g0006 others(1): Show a0001c0004t0007g0016 a0001c0004t0007g0088 a0002c0002t0002g0006 a0002c0002t0002g0007	6	432	0.0139	48	c.-40 others(59): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAA GAAAGAAAGAAAGA		PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding					3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02055.hp1 HG02922.hp2 others(4): Show HG00544.hp1 HG02055.hp1 HG02922.hp2 NA18941.hp1 NA18963.hp1 NA18963.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0014	7	432	0.0162	48	c.-40 others(59): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA GAAAGAAAGAAAGA		PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding					3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	432	0.0023	48	c.-40 others(59): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAA GAAAGAAAGAAAGA		PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding					3845		chr2	TogoVar
PKHD1_chr6_51610299_52092613	51981323	C C	CTCTCCCT others(41): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0005 a0011c0017t0005	a0011c0017t0005g0071 a0011c0017t0005g0071	1	134	0.0075	48	c.575 others(69): Show c.5752-21298_5752-21297insCGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGA		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981329	C C	CTCTCCCT others(41): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02155.hp2 HG02451.hp2 others(4): Show HG01106.hp2 HG02155.hp2 HG02451.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0036	a0001c0002 a0001c0009 a0001c0082 others(3): Show a0001c0002 a0001c0009 a0001c0082 a0002c0004 a0006c0078 a0036c0074	a0001c0002t0009 a0001c0009t0001 a0001c0082t0001 others(3): Show a0001c0002t0009 a0001c0009t0001 a0001c0082t0001 a0002c0004t0003 a0006c0078t0005 a0036c0074t0003	a0001c0002t0009g0099 a0001c0002t0009g0100 a0001c0009t0001g0103 others(4): Show a0001c0002t0009g0099 a0001c0002t0009g0100 a0001c0009t0001g0103 a0001c0082t0001g0105 a0002c0004t0003g0085 a0006c0078t0005g0104 a0036c0074t0003g0108	7	134	0.0522	48	c.575 others(69): Show c.5752-21304_5752-21303insCGGAGACGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGA		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981335	C C	CTCTCCCT others(41): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03098.hp2 NA19054.hp1 HG01106.hp1 HG03098.hp2 NA19054.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0037 a0005c0038 a0001c0002 a0005c0037 a0005c0038	a0001c0002t0001 a0005c0037t0001 a0005c0038t0001 a0001c0002t0001 a0005c0037t0001 a0005c0038t0001	a0001c0002t0001g0107 a0005c0037t0001g0038 a0005c0038t0001g0034 a0001c0002t0001g0107 a0005c0037t0001g0038 a0005c0038t0001g0034	3	134	0.0224	48	c.575 others(69): Show c.5752-21310_5752-21309insCGGAGACGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGA		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKIA_chr8_78511340_78610267	78524024	T T	TTATATAT others(41): Show TTATATATATAAATATATATAAACGTTTATACGTTTATATATATAAATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02647.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0030 a0001c0001t0029 a0001c0001t0030	a0001c0001t0029g0015 a0001c0001t0030g0013 a0001c0001t0029g0015 a0001c0001t0030g0013	2	186	0.0108	48	c.-15 others(67): Show c.-157+7562_-157+7563insTATAAATATATATAAACGTTTATACG TTTATATATATAAATATATATA		PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKNOX2_chr11_125159751_125438389	125178549	A A	AGAAGGAA others(41): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0184 a0001c0001t0009g0184	1	222	0.0045	48	c.-20 others(69): Show c.-201+13788_-201+13789insGGAAGGAAGGAAGGAAGGAAAGAA AGAAGGAAGGAAGGAAGGAAGGAA		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(41): Show TGGACGGACGGACGGATGGACGGACGGACGGACGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 NA18747.hp2 others(1): Show HG00099.hp1 HG01256.hp1 NA18747.hp2 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0075 a0001c0002t0002g0185 a0001c0002t0004g0099 others(1): Show a0001c0002t0002g0075 a0001c0002t0002g0185 a0001c0002t0004g0099 a0001c0002t0004g0101	4	334	0.0120	48	c.702 others(63): Show c.702-417_702-416insTGGACGGACGGACGGACGGACGGACGGACG GACGGACGGACGGACGGA		PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	400323	T T	TCGGTCCC others(41): Show TCGGTCCCCAGGAACCTCAGCTCAGCCTCTCAGGCCACTCGCCAGAAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0149	1	216	0.0046	48	c.144 others(60): Show c.1449-10_1486dupCGGTCCCCAGGAACCTCAGCTCAGCCTCTCAGG CCACTCGCCAGAAGA	p.Lys others(61): Show p.Lys495_Met496insThrValProArgAsnLeuSerSerAlaSerGl nAlaThrArgGlnLys	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	7/13	1571/2817	1487/2394	496/797		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	400929	C C	CACCCCGC others(41): Show CACCCCGCCCCGCTCACACCCGACCCCGCTCACCCCCGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0121 a0014c0029t0001g0121	1	216	0.0046	48	c.173 others(65): Show c.1737+224_1737+225insACCCCGCCCCGCTCACACCCGACCCCGC TCACCCCCGCCCCGCTCACA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(41): Show GCCCCGCTCACACCCGGCCCCGCTCACCCCCCGGCCCCGCTCACCACCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	216	0.0046	48	c.173 others(65): Show c.1737+861_1737+862insCCCCGCTCACACCCGGCCCCGCTCACCC CCCGGCCCCGCTCACCACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402827	C C	CCGCCCCG others(41): Show CCGCCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01975.hp2 HG00642.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0107 a0001c0003t0001g0098 a0001c0002t0001g0107 a0001c0003t0001g0098	2	216	0.0093	48	c.173 others(65): Show c.1738-251_1738-250insCGCCCCGCTCACCCCGGGACCCGCTCAC CCCGACCCCGCTCACCCCGG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402828	G G	GCCCCGCT others(41): Show GCCCCGCTCACCCCGGGACCCCGCTCACCCCGACCCCGCTCACCCCGGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	216	0.0046	48	c.173 others(65): Show c.1738-237_1738-236insGGGACCCCGCTCACCCCGACCCCGCTCA CCCCGGACCCCGCTCACCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402828	G G	GCCCCGCT others(41): Show GCCCCGCTCACCCCGGGACCCGCTCACCCCCGACCCCGCTCACCCCGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19030.hp1 HG01496.hp1 NA19030.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0031 a0001c0002 a0011c0031	a0001c0002t0001 a0011c0031t0001 a0001c0002t0001 a0011c0031t0001	a0001c0002t0001g0132 a0011c0031t0001g0167 a0001c0002t0001g0132 a0011c0031t0001g0167	2	216	0.0093	48	c.173 others(65): Show c.1738-237_1738-236insGGGACCCGCTCACCCCCGACCCCGCTCA CCCCGGACCCCGCTCACCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar

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