Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
PKHD1_chr6_51610299_52092613	52065168	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0001 a0008c0003t0001	a0008c0003t0001g0008 a0008c0003t0001g0008	1	134	0.0075	24	c.881 others(39): Show c.881-119_881-118insCTCTCTCTCTATATATATATATAT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	12/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	52065168	T T	TATATATA others(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0092 a0002c0092	a0002c0092t0004 a0002c0092t0004	a0002c0092t0004g0002 a0002c0092t0004g0002	1	134	0.0075	24	c.881 others(39): Show c.881-119_881-118insCTCTCTATATATATATATATATAT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	12/66						chr6	TogoVar
PKIA_chr8_78511340_78610267	78602694	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02145.hp2 others(2): Show HG01167.hp2 HG01169.hp1 HG02145.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0169 others(2): Show a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0010g0150 a0001c0001t0010g0166	5	186	0.0269	24	c.89 others(33): Show c.893_*894insATATATATATATATATATATATAT		PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4				894	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIB_chr6_122605405_122731373	122626073	T T	TATAGATA others(17): Show TATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18612.hp1 NA18964.hp1 HG00544.hp1 NA18612.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0246 a0001c0001t0009g0245 a0001c0001t0009g0247 a0001c0001t0004g0246 a0001c0001t0009g0245 a0001c0001t0009g0247	3	312	0.0096	24	c.-16 others(43): Show c.-160-7208_-160-7185dupTAGATAGATAGATAGATAGATAGA		PKIB	ENSG00000135549.16	transcript	ENST00000368452.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PKIB_chr6_122605405_122731373	122670498	T T	TTTGTTGT others(17): Show TTTGTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	312	0.0032	24	c.-75 others(41): Show c.-75-4574_-75-4551dupGTTGTTGTTGTTGTTGTTGTTGTT		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(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01515.hp1 HG01517.hp1 others(4): Show HG01175.hp1 HG01515.hp1 HG01517.hp1 HG02004.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0209 a0001c0001t0001g0210 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235	7	300	0.0233	24	c.-23 others(41): Show c.-23-4028_-23-4005dupACACACACACACACACACACACAC		PKIG	ENSG00000168734.14	transcript	ENST00000372886.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
PKIG_chr20_44577579_44624037	44610500	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	300	0.0033	24	c.-23 others(41): Show c.-23-4033_-23-4032insTCACACACACACACACACACACAC		PKIG	ENSG00000168734.14	transcript	ENST00000372886.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
PKN3_chr9_128697503_128725916	128701941	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0132 a0003c0006t0001g0132	1	360	0.0028	24	c.-97 others(33): Show c.-975_-974insTTTTTTTTTTTTTTTTTTTTTTTT		PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding					561		chr9	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01981.hp2 HG02293.hp1 others(3): Show HG01261.hp2 HG01981.hp2 HG02293.hp1 HG02300.hp2 HG02976.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0018 a0001c0001t0001g0237 a0001c0001t0002g0128 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0237 a0001c0001t0002g0128 a0001c0001t0010g0227	6	360	0.0167	24	c.198 others(41): Show c.1985+197_1985+220dupTTTTTTTTTTTTTTTTTTTTTTTT		PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	362	0.0028	24	c.-57 others(43): Show c.-57+12741_-57+12742insAAAAAAAATATATATATATATATA		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 homoSapiens_chm13v2.hp1 HG00140.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0040 a0001c0001t0004g0041	2	362	0.0055	24	c.-57 others(43): Show c.-57+12741_-57+12742insAATATATATATATATATATATATA		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02071.hp1 HG00544.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0136 a0001c0001t0004g0043 a0001c0001t0004g0136	2	362	0.0055	24	c.-57 others(43): Show c.-57+12741_-57+12764dupATATATATATATATATATATATAT		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	43035901	A A	AATAAATA others(17): Show AATAAATAAATAAATAAATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01074.hp1 others(45): Show HG00099.hp1 HG00280.hp2 HG01074.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG02015.hp1 HG02027.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03130.hp1 HG03540.hp2 HG03927.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp2 NA19090.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0026 a0001c0001t0038 a0001c0001t0040 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050	a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0057 others(45): Show a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0144 a0001c0001t0002g0014 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0285 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0009 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0010g0031 a0001c0001t0013g0112 a0001c0001t0014g0109 a0001c0001t0026g0193 a0001c0001t0038g0091 a0001c0001t0040g0008 a0001c0001t0046g0222 a0001c0001t0048g0249 a0001c0001t0050g0240	48	362	0.1326	24	c.58 others(35): Show c.5800_*5801insATAAATAAATAAATAAATAAATAT		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding					1971		chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125178609	G G	GGAAGGAA others(17): Show GGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	222	0.0045	24	c.-20 others(45): Show c.-201+13836_-201+13837insGGAAAGAAAGAAAGAAAGAAAGAA		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178609	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	222	0.0045	24	c.-20 others(45): Show c.-201+13836_-201+13837insGGAAGGAAAGAAAGAAAGAAAGAA		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(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01255.hp1 others(7): Show HG00558.hp1 HG00558.hp2 HG01255.hp1 HG01433.hp2 HG01993.hp1 HG02083.hp2 HG02738.hp1 HG03654.hp2 NA19000.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0002g0034 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0003g0028 a0001c0001t0003g0092 a0001c0001t0003g0169 a0001c0001t0004g0055	10	222	0.0451	24	c.-20 others(45): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAGGAAGGAA		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(17): Show AGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18964.hp1 NA20905.hp1 others(1): Show HG02735.hp2 NA18964.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0036 a0001c0001t0003g0079 a0001c0001t0004g0113 others(1): Show a0001c0001t0003g0036 a0001c0001t0003g0079 a0001c0001t0004g0113 a0001c0001t0006g0058	4	222	0.0180	24	c.-20 others(45): Show c.-201+13872_-201+13873insAGAAAGAAAGAAGGAAGGAAGGAA		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(17): Show AGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18951.hp1 NA18971.hp1 others(1): Show HG01106.hp1 NA18951.hp1 NA18971.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0120 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0120 a0001c0001t0003g0119	4	222	0.0180	24	c.-20 others(45): Show c.-201+13872_-201+13873insAGAAAGAAGGAAGGAAGGAAGGAA		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178685	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	222	0.0045	24	c.-20 others(45): Show c.-201+13911_-201+13912insAGGAAGGAAGGAAGGAAGGAAGGA		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125189419	G G	GTATATAT others(17): Show GTATATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03486.hp2 NA18951.hp2 others(1): Show HG02056.hp1 HG03486.hp2 NA18951.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0005 a0001c0001t0001 a0001c0001t0003 a0001c0005t0005	a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0003g0039 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0003g0039 a0001c0005t0005g0194	4	222	0.0180	24	c.-20 others(45): Show c.-201+24644_-201+24645insATATATATATGTGTGTATATATAT		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125386713	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp2 NA18981.hp1 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0206 a0002c0002t0002g0193 a0001c0001t0003g0206 a0002c0002t0002g0193	2	222	0.0090	24	c.399 others(41): Show c.399+1008_399+1031dupACACACACACACACACACACACAC		PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(17): Show TGGACGGACGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18966.hp2 NA18942.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0174 a0001c0002t0002g0175	2	334	0.0060	24	c.702 others(39): Show c.702-413_702-412insCGGACGGACGGACGGACGGACGGA		PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP2_chr12_32785755_32901777	32806686	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00673.hp1 others(38): Show HG00438.hp1 HG00558.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02135.hp1 HG02155.hp1 HG02630.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18984.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19009.hp1 NA19010.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0006c0007 a0010c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 a0001c0003t0002 a0001c0009t0002 a0002c0002t0002 a0006c0007t0002 a0010c0014t0010	a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 others(38): Show a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0203 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0323 a0001c0001t0003g0186 a0001c0001t0010g0174 a0001c0001t0018g0337 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0009t0002g0003 a0002c0002t0002g0230 a0002c0002t0002g0238 a0006c0007t0002g0013 a0006c0007t0002g0087 a0010c0014t0010g0175	41	342	0.1199	24	c.201 others(43): Show c.2014-4131_2014-4130insCACACACACACACACACACACACA		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	9/12						chr12	TogoVar
PKP2_chr12_32785755_32901777	32846745	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19070.hp1 NA18944.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0312 a0002c0002t0005g0318 a0002c0002t0005g0312 a0002c0002t0005g0318	2	342	0.0059	24	c.137 others(43): Show c.1378+4020_1378+4021insTTTTTTTTTTTTTTTTTTTTTTTT		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	5/12						chr12	TogoVar
PKP3_chr11_389209_409908	397461	C C	CGGCTCAG others(17): Show CGGCTCAGGGAGGGGGCTTCTACCA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	216	0.0046	24	c.944 others(37): Show c.944+17_944+40dupGGCTCAGGGAGGGGGCTTCTACCA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398981	T T	TGTGCCCG others(17): Show TGTGCCCGCAGGCCCGCAGCCTTCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0137 a0001c0028t0001g0137	1	216	0.0046	24	c.106 others(35): Show c.1069-9_1083dupTGCCCGCAGGCCCGCAGCCTTCAG	p.Gln others(37): Show p.Gln361_Ala362insCysProGlnAlaArgSerLeuGln	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	5/13	1168/2817	1084/2394	362/797		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401808	G G	GACCCGCT others(17): Show GACCCGCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	216	0.0046	24	c.173 others(43): Show c.1737+1107_1737+1108insGCTCACCCCCGGCCCCGCTCACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402045	C C	CCGCTCAC others(17): Show CCGCTCACCCGGGACCCCGCTCACA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0023 a0001c0010t0001g0023	1	216	0.0046	24	c.173 others(43): Show c.1738-1032_1738-1031insGCTCACCCGGGACCCCGCTCACAC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402343	G G	GACCCGCT others(17): Show GACCCGCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0094 a0001c0004t0001g0094	1	216	0.0046	24	c.173 others(41): Show c.1738-731_1738-730insGCTCACCCCCGGCCCCGCTCACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402658	C C	CCGCCCCG others(17): Show CCGCCCCGCTCACCCCTGCCCCGCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18952.hp2 HG02074.hp1 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0143 a0001c0003t0001g0162 a0001c0002t0001g0143 a0001c0003t0001g0162	2	216	0.0093	24	c.173 others(41): Show c.1738-420_1738-419insCGCCCCGCTCACCCCTGCCCCGCT		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402659	G G	GCCCCGCT others(17): Show GCCCCGCTCACCCCCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	216	0.0046	24	c.173 others(41): Show c.1738-419_1738-418insCCCCGCTCACCCCCCGCCCCGCTC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402659	G G	GCCCCGCT others(17): Show GCCCCGCTCACCCCTGCCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	216	0.0046	24	c.173 others(41): Show c.1738-419_1738-418insCCCCGCTCACCCCTGCCCCCGCTC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP4_chr2_158451952_158686429	158566479	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG02257.hp2 HG03225.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0008c0015t0001 a0001c0001t0001 a0008c0015t0001	a0001c0001t0001g0268 a0008c0015t0001g0092 a0001c0001t0001g0268 a0008c0015t0001g0092	2	308	0.0065	24	c.133 others(43): Show c.133-10779_133-10778insTATATATATATATATATATATATA		PKP4	ENSG00000144283.23	transcript	ENST00000389759.8	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLA1A_chr3_119592885_119634811	119622091	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG02451.hp1 others(14): Show HG01106.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03540.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0013 a0002c0004 others(3): Show a0001c0002 a0001c0013 a0002c0004 a0002c0009 a0002c0020 a0006c0015	a0001c0002t0002 a0001c0002t0006 a0001c0013t0005 others(5): Show a0001c0002t0002 a0001c0002t0006 a0001c0013t0005 a0002c0004t0002 a0002c0004t0005 a0002c0009t0002 a0002c0020t0002 a0006c0015t0001	a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0006g0105 others(14): Show a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0006g0105 a0001c0002t0006g0109 a0001c0013t0005g0062 a0002c0004t0002g0067 a0002c0004t0002g0078 a0002c0004t0002g0093 a0002c0004t0002g0094 a0002c0004t0002g0099 a0002c0004t0005g0164 a0002c0009t0002g0063 a0002c0009t0002g0064 a0002c0009t0002g0065 a0002c0020t0002g0214 a0006c0015t0001g0128 a0006c0015t0001g0141	17	420	0.0405	24	c.101 others(43): Show c.1012+2445_1012+2468dupAAGAAGAAGAAGGAGAAGGAGAAG		PLA1A	ENSG00000144837.9	transcript	ENST00000273371.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLA2G12A_chr4_109704989_109735070	109706131	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	412	0.0024	24	c.82 others(35): Show c.8245_*8246insTATATATATATATATATATATATA		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3857		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109706168	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	412	0.0024	24	c.82 others(35): Show c.8208_*8209insGTATATATATATATATATATATAT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3820		chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109706178	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0043 a0003c0006t0043	a0003c0006t0043g0062 a0003c0006t0043g0062	1	412	0.0024	24	c.81 others(35): Show c.8198_*8199insATATATATATATATATATATATAT		PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding					3810		chr4	TogoVar
PLA2G4A_chr1_186823949_186993981	186912732	A A	ATATATAT others(17): Show ATATATATACATATATATGTATATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG03098.hp2 others(2): Show HG02258.hp2 HG02970.hp2 HG03098.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0089 a0001c0001t0001g0287 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0089 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290	5	310	0.0161	24	c.558 others(41): Show c.558+1366_558+1367insTTATATATACATATATATGTATAT		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186912787	T T	TATATATA others(17): Show TATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	310	0.0032	24	c.558 others(41): Show c.558+1411_558+1434dupATATATATATACATATATATGTAT		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186934443	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02738.hp1 HG03017.hp2 others(2): Show HG02723.hp2 HG02738.hp1 HG03017.hp2 NA19087.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0076 a0001c0001t0001g0188 a0001c0001t0001g0206 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0188 a0001c0001t0001g0206 a0001c0001t0001g0271 a0002c0002t0001g0169	5	310	0.0161	24	c.695 others(41): Show c.695+1565_695+1566insTATATATATATATATATATATATA		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186968400	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	310	0.0032	24	c.176 others(43): Show c.1764+2817_1764+2840dupGTGTGTGTGTGTGTGTGTGTGTGT		PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48105925	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	322	0.0031	24	c.9-4 others(35): Show c.9-482_9-481insAAAGAAAGAAAGAAAGAAAGAAAG		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105937	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp2 HG02647.hp2 HG03486.hp2	a0003 a0003	a0003c0008 a0003c0029 a0003c0008 a0003c0029	a0003c0008t0002 a0003c0029t0005 a0003c0008t0002 a0003c0029t0005	a0003c0008t0002g0199 a0003c0029t0005g0198 a0003c0008t0002g0199 a0003c0029t0005g0198	2	322	0.0062	24	c.9-4 others(35): Show c.9-494_9-493insAAAGAAAGAAAGAAAGAAAGAAAG		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105939	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0005 a0003c0029t0005	a0003c0029t0005g0200 a0003c0029t0005g0200	1	322	0.0031	24	c.9-4 others(35): Show c.9-496_9-495insAGAAAGAAAGAAAGAAAGAAAGAA		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105941	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02523.hp2 HG03453.hp2 others(3): Show HG01070.hp1 HG02523.hp2 HG03453.hp2 HG03654.hp2 NA18612.hp2 NA18953.hp1	a0001 a0003 a0023 others(1): Show a0001 a0003 a0023 a0032	a0001c0001 a0003c0003 a0003c0008 others(2): Show a0001c0001 a0003c0003 a0003c0008 a0023c0068 a0032c0054	a0001c0001t0001 a0003c0003t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0003c0008t0001 a0023c0068t0001 a0032c0054t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0003c0003t0001g0077 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0003c0003t0001g0077 a0003c0008t0001g0078 a0023c0068t0001g0079 a0032c0054t0001g0076	6	322	0.0186	24	c.9-4 others(35): Show c.9-498_9-497insAAAGAAAGAAAGAAAGAAAGAAAG		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105943	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0006 a0003c0045t0006	a0003c0045t0006g0289 a0003c0045t0006g0289	1	322	0.0031	24	c.9-5 others(35): Show c.9-500_9-499insAGAAAGAAAGAAAGAAAGAAAGAA		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105945	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG01496.hp1 HG03041.hp1	a0002 a0008 a0002 a0008	a0002c0013 a0008c0010 a0002c0013 a0008c0010	a0002c0013t0013 a0008c0010t0001 a0002c0013t0013 a0008c0010t0001	a0002c0013t0013g0007 a0008c0010t0001g0099 a0002c0013t0013g0007 a0008c0010t0001g0099	2	322	0.0062	24	c.9-5 others(35): Show c.9-502_9-501insAAAGAAAGAAAGAAAGAAAGAAAG		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16						chr19	TogoVar
PLA2R1_chr2_159927006_160067615	159935945	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 NA18960.hp2 HG00408.hp2 NA18960.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0027 a0001c0001 a0016c0027	a0001c0001t0084 a0016c0027t0078 a0001c0001t0084 a0016c0027t0078	a0001c0001t0084g0213 a0016c0027t0078g0201 a0001c0001t0084g0213 a0016c0027t0078g0201	2	326	0.0061	24	c.58 others(35): Show c.5809_*5832dupAAAAAAAAAAAAAAAAAAAAAAAA		PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	30/30				5832		chr2	TogoVar
PLAAT1_chr3_193236222_193275855	193240654	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	24	c.-88 others(33): Show c.-880_-879insGTGTGTGTGTGTGTGTGTGTGTGT		PLAAT1	ENSG00000127252.7	transcript	ENST00000264735.4	protein_coding					567		chr3	TogoVar
PLAAT3_chr11_63569462_63619433	63615044	A A	ATATATAT others(17): Show ATATATATATATGTATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	352	0.0028	24	c.-71 others(33): Show c.-715_-714insCATATATACATACATATATATATA		PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding					612		chr11	TogoVar

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