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 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
PALD1_chr10_70473767_70573450	70501813	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp2 HG01175.hp1 others(4): Show HG00741.hp1 HG01169.hp2 HG01175.hp1 HG02622.hp2 HG02630.hp1 HG03017.hp2 NA18954.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0009	a0001c0001 a0004c0005 a0008c0012 others(1): Show a0001c0001 a0004c0005 a0008c0012 a0009c0011	a0001c0001t0001 a0001c0001t0005 a0004c0005t0029 others(3): Show a0001c0001t0001 a0001c0001t0005 a0004c0005t0029 a0004c0005t0036 a0008c0012t0008 a0009c0011t0002	a0001c0001t0001g0069 a0001c0001t0005g0135 a0001c0001t0005g0239 others(4): Show a0001c0001t0001g0069 a0001c0001t0005g0135 a0001c0001t0005g0239 a0004c0005t0029g0270 a0004c0005t0036g0038 a0008c0012t0008g0240 a0009c0011t0002g0176	7	308	0.0227	18	c.-30 others(37): Show c.-30+22759_-30+22776dupTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70501834	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG01258.hp1 others(10): Show HG00642.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01981.hp2 HG02004.hp1 HG02300.hp2 HG03942.hp1 HG04228.hp2 NA18980.hp2 NA19010.hp1 NA19043.hp2 NA19240.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0001c0007 a0023c0031 a0001c0001 a0001c0007 a0023c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0022 a0001c0007t0001 a0023c0031t0001	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 others(10): Show a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0115 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0042 a0001c0001t0002g0068 a0001c0001t0017g0280 a0001c0001t0022g0143 a0001c0007t0001g0051 a0023c0031t0001g0159	13	308	0.0422	18	c.-30 others(37): Show c.-30+22776_-30+22777insTGTGTGTGTGTGTGCGCG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508809	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02647.hp1 HG01099.hp1 HG02647.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0039 a0009c0011t0047 a0009c0011t0039 a0009c0011t0047	a0009c0011t0039g0175 a0009c0011t0047g0277 a0009c0011t0039g0175 a0009c0011t0047g0277	2	308	0.0065	18	c.-29 others(37): Show c.-29-17104_-29-17103insTGTGTGTATGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02027.hp1 HG02698.hp2 others(2): Show HG01433.hp1 HG02027.hp1 HG02698.hp2 NA19005.hp1 NA19005.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0006 a0002c0002 a0014c0019 a0001c0006 a0002c0002 a0014c0019	a0001c0006t0008 a0002c0002t0002 a0002c0002t0004 others(2): Show a0001c0006t0008 a0002c0002t0002 a0002c0002t0004 a0002c0002t0022 a0014c0019t0012	a0001c0006t0008g0129 a0002c0002t0002g0052 a0002c0002t0004g0160 others(2): Show a0001c0006t0008g0129 a0002c0002t0002g0052 a0002c0002t0004g0160 a0002c0002t0022g0008 a0014c0019t0012g0233	5	308	0.0162	18	c.-29 others(37): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(11): Show GCCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0117 a0001c0006t0003g0117	1	308	0.0033	18	c.186 others(30): Show c.186-20_186-3dupCCCCCCCCCCCCCCCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70556279	C C	CCTCCCTC others(11): Show CCTCCCTCTCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03540.hp1 HG03669.hp2 others(3): Show HG00323.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0001c0006t0003 a0001c0007t0001	a0001c0001t0002g0170 a0001c0001t0003g0070 a0001c0001t0011g0260 others(3): Show a0001c0001t0002g0170 a0001c0001t0003g0070 a0001c0001t0011g0260 a0001c0001t0019g0222 a0001c0006t0003g0067 a0001c0007t0001g0197	6	308	0.0195	18	c.226 others(37): Show c.2263-8082_2263-8081insCCTCTCTCCCTCTCTCTC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70556279	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	308	0.0033	18	c.226 others(37): Show c.2263-8074_2263-8057dupCTCTCTCTCTCTCTCTCT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168527422	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 homoSapiens_chm13v2.hp1 HG03669.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0007 a0002c0015 a0002c0007 a0002c0015	a0002c0007t0005 a0002c0015t0003 a0002c0007t0005 a0002c0015t0003	a0002c0007t0005g0138 a0002c0015t0003g0058 a0002c0007t0005g0138 a0002c0015t0003g0058	2	156	0.0128	18	c.908 others(37): Show c.908+15015_908+15032dupAAAAAAAAAAAAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168542717	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0022 a0002c0003t0009 a0001c0001t0022 a0002c0003t0009	a0001c0001t0022g0114 a0002c0003t0009g0094 a0001c0001t0022g0114 a0002c0003t0009g0094	2	156	0.0128	18	c.908 others(37): Show c.908+30334_908+30351dupATATATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168566220	A A	AGAATACA others(11): Show AGAATACAATTCTTTAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01175.hp2 others(5): Show HG00735.hp2 HG01099.hp2 HG01175.hp2 HG01346.hp2 HG01952.hp2 HG02559.hp2 HG03490.hp2 HG04204.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0007 a0002c0012 a0002c0017 others(2): Show a0002c0007 a0002c0012 a0002c0017 a0003c0005 a0004c0011	a0002c0007t0001 a0002c0007t0004 a0002c0012t0001 others(5): Show a0002c0007t0001 a0002c0007t0004 a0002c0012t0001 a0002c0012t0019 a0002c0017t0003 a0003c0005t0001 a0004c0011t0001 a0004c0011t0013	a0002c0007t0001g0025 a0002c0007t0004g0027 a0002c0012t0001g0085 others(5): Show a0002c0007t0001g0025 a0002c0007t0004g0027 a0002c0012t0001g0085 a0002c0012t0019g0141 a0002c0017t0003g0084 a0003c0005t0001g0076 a0004c0011t0001g0083 a0004c0011t0013g0004	8	156	0.0513	18	c.908 others(37): Show c.908+53808_908+53809insGAATACAATTCTTTAAAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21			chr4	TogoVar
PALLD_chr4_168492052_168933441	168600004	T T	TACATGTG others(11): Show TACATGTGTGTACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	156	0.0064	18	c.909 others(37): Show c.909-68185_909-68184insCATGTGTGTACACACACA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(11): Show GATAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0032 a0002c0006t0007g0032	1	156	0.0064	18	c.909 others(37): Show c.909-42685_909-42684insGATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168669800	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0032 a0002c0006t0007g0032	1	156	0.0064	18	c.108 others(37): Show c.1087+1439_1087+1456dupCACACACACACACACACA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0137 a0001c0002t0009g0137	1	156	0.0064	18	c.196 others(39): Show c.1964+47280_1964+47281insAAAAAAAAAATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785844	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0075	1	156	0.0064	18	c.196 others(39): Show c.1964+73922_1964+73923insTATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0138 a0002c0007t0005g0138	1	156	0.0064	18	c.196 others(39): Show c.1964+73924_1964+73925insGATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04115.hp2 NA19074.hp2 HG03654.hp1 HG04115.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0077 a0001c0001t0002g0136 a0001c0001t0009g0150 a0001c0001t0001g0077 a0001c0001t0002g0136 a0001c0001t0009g0150	3	156	0.0192	18	c.196 others(39): Show c.1964+73937_1964+73954dupTATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168816389	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0033 a0002c0003t0003g0033	1	156	0.0064	18	c.196 others(39): Show c.1965-74525_1965-74508dupATATATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109844931	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02056.hp1 HG02165.hp1 others(10): Show HG01433.hp1 HG02056.hp1 HG02165.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03831.hp2 NA18612.hp2 NA18747.hp2 NA18982.hp1 NA18989.hp2 NA18995.hp1 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0023 a0002c0004t0002 a0003c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0134 a0001c0001t0002g0154 others(10): Show a0001c0001t0001g0041 a0001c0001t0001g0134 a0001c0001t0002g0154 a0002c0002t0003g0003 a0002c0002t0003g0012 a0002c0002t0003g0156 a0002c0002t0004g0024 a0002c0002t0023g0055 a0002c0004t0002g0107 a0002c0004t0002g0155 a0003c0003t0001g0027 a0003c0003t0001g0042 a0003c0003t0001g0078	13	222	0.0586	18	c.46- others(35): Show c.46-22549_46-22532dupTGTGTGTGTGTGTGTGTG	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109969088	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01099.hp1 others(7): Show HG00140.hp1 HG00609.hp1 HG01099.hp1 HG01192.hp1 NA18968.hp1 NA18989.hp2 NA19002.hp1 NA19010.hp2 NA19060.hp1 NA19086.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0023 a0004c0005t0002	a0001c0001t0001g0041 a0001c0001t0002g0057 a0002c0002t0001g0050 others(7): Show a0001c0001t0001g0041 a0001c0001t0002g0057 a0002c0002t0001g0050 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0124 a0002c0002t0004g0176 a0002c0002t0004g0177 a0002c0002t0023g0055 a0004c0005t0002g0129	10	222	0.0451	18	c.496 others(37): Show c.496+37068_496+37085dupACACACACACACACACAC	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110100051	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03669.hp2 HG01243.hp2 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0002c0002t0004 a0001c0001t0036 a0002c0002t0004	a0001c0001t0036g0203 a0002c0002t0004g0132 a0001c0001t0036g0203 a0002c0002t0004g0132	2	222	0.0090	18	c.583 others(37): Show c.583-36063_583-36046dupTATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135188	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03471.hp1 HG03195.hp1 HG03471.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0012 a0008c0010t0012	a0008c0010t0012g0043 a0008c0010t0012g0201 a0008c0010t0012g0043 a0008c0010t0012g0201	2	222	0.0090	18	c.583 others(33): Show c.583-938_583-937insTATATATATATATATAAA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683056	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18975.hp2 HG02602.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0290 a0001c0001t0001g0035 a0001c0001t0001g0290	2	380	0.0053	18	c.252 others(35): Show c.252-3619_252-3618insAAGAAAGAAAGAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS1_chr14_67236435_67341061	67256797	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 NA18991.hp2 HG02109.hp2 HG02970.hp2 NA18991.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0005 a0001c0002 a0006c0005	a0001c0002t0001 a0001c0002t0006 a0006c0005t0020 a0001c0002t0001 a0001c0002t0006 a0006c0005t0020	a0001c0002t0001g0006 a0001c0002t0006g0274 a0006c0005t0020g0289 a0001c0002t0001g0006 a0001c0002t0006g0274 a0006c0005t0020g0289	3	290	0.0103	18	c.-23 others(39): Show c.-236-12894_-236-12877dupCACACACACACACACACA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0149 a0001c0001t0008g0149	1	290	0.0035	18	c.367 others(35): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67284442	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 HG01123.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0011g0145 a0001c0001t0011g0146	2	290	0.0069	18	c.367 others(35): Show c.367+4907_367+4908insAAAAAAAAAAAAAAACAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67284547	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	290	0.0035	18	c.367 others(35): Show c.367+5034_367+5051dupAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67295104	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20300.hp2 HG02886.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0148 a0001c0001t0008g0150 a0001c0001t0008g0148 a0001c0001t0008g0150	2	290	0.0069	18	c.576 others(35): Show c.576+2396_576+2413dupGTGTGTGTGTGTGTGTGT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67300336	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG02970.hp2 others(1): Show HG01884.hp2 HG01952.hp1 HG02970.hp2 HG03453.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0003 a0006c0005t0020 a0001c0001t0003 a0006c0005t0020	a0001c0001t0003g0128 a0001c0001t0003g0152 a0001c0001t0003g0238 others(1): Show a0001c0001t0003g0128 a0001c0001t0003g0152 a0001c0001t0003g0238 a0006c0005t0020g0289	4	290	0.0138	18	c.577 others(35): Show c.577-1042_577-1041insTTTTTTTTTTTTTTTTTT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67323232	C C	CATGTGTG others(11): Show CATGTGTGTATGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0280 a0001c0001t0013g0280	1	290	0.0035	18	c.174 others(35): Show c.1741-470_1741-469insATGTGTGTATGTGTGTGT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	13/14			chr14	TogoVar
PALS1_chr14_67236435_67341061	67323615	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0146 a0001c0001t0011g0146	1	290	0.0035	18	c.174 others(33): Show c.1741-82_1741-65dupATATATATATATATATAT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24573297	T T	TGGAGGAG others(11): Show TGGAGGAGGAGGAGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0341 a0001c0002t0004g0341	1	378	0.0027	18	c.-29 others(27): Show c.-299_-298insGGAGGAGGAGGAGGAGGA	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding		154		chr7	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG02145.hp2 others(2): Show HG01261.hp1 HG01884.hp2 HG02145.hp2 HG02922.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0002t0005 a0001c0002t0044 others(1): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0044 a0001c0009t0018	a0001c0002t0004g0277 a0001c0002t0004g0349 a0001c0002t0005g0313 others(2): Show a0001c0002t0004g0277 a0001c0002t0004g0349 a0001c0002t0005g0313 a0001c0002t0044g0333 a0001c0009t0018g0358	5	378	0.0132	18	c.118 others(35): Show c.118-3385_118-3368dupTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PALS2_chr7_24568452_24699193	24691405	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0083 a0001c0001t0059g0083	1	378	0.0027	18	c.37 others(29): Show c.3792_*3793insGTGTGTGTGTGTGTGTAT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	12/12	3793	INFO_REALIGN_3_PRIME	chr7	TogoVar
PALS2_chr7_24568452_24699193	24695441	A A	AGATCTCA others(11): Show AGATCTCACTTGTCAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0022	1	378	0.0027	18	c.78 others(29): Show c.7827_*7828insGATCTCACTTGTCAATGT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding		1249		chr7	TogoVar
PAM16_chr16_4335251_4356321	4344214	C C	CGTTCCGT others(11): Show CGTTCCGTGAGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG03098.hp2 HG01243.hp1 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186	3	367	0.0082	18	c.4-9 others(29): Show c.4-941_4-924dupCCCCTCCTCTCACGGAAC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344292	G G	GTGTGAGA others(11): Show GTGTGAGAGGAGGGGGTTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	367	0.0027	18	c.4-1 others(31): Show c.4-1019_4-1002dupGAACCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344368	G G	GTGTGAGA others(11): Show GTGTGAGAGGAGGGGGTTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	367	0.0027	18	c.4-1 others(31): Show c.4-1095_4-1078dupGAACCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344496	C C	CTGTGAGA others(11): Show CTGTGAGAGGAGGGGACTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG01891.hp1 others(6): Show HG00597.hp2 HG01243.hp1 HG01891.hp1 HG02083.hp1 HG02572.hp2 HG03098.hp2 HG03927.hp2 NA18612.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0223	9	367	0.0245	18	c.4-1 others(31): Show c.4-1206_4-1205insCAGTCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344533	T T	TGTGAGAG others(11): Show TGTGAGAGGAGGGGGTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	367	0.0027	18	c.4-1 others(31): Show c.4-1260_4-1243dupGGAACCCCCTCCTCTCAC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344551	C C	CGTGAGAG others(11): Show CGTGAGAGGAGGGGACTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	367	0.0027	18	c.4-1 others(31): Show c.4-1261_4-1260insACAGTCCCCTCCTCTCAC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344551	C C	CGTGAGAG others(11): Show CGTGAGAGGAGGGGGTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp1 HG03486.hp1 others(1): Show HG03041.hp1 HG03471.hp1 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0187 a0001c0001t0001g0230 a0001c0001t0001g0043 a0001c0001t0001g0187 a0001c0001t0001g0230	4	367	0.0109	18	c.4-1 others(31): Show c.4-1278_4-1261dupAGAACCCCCTCCTCTCAC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344569	T T	TGTGAGAG others(11): Show TGTGAGAGGAGGGGGTTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01516.hp2 HG01517.hp2 others(16): Show HG00544.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02818.hp2 HG03225.hp1 HG03540.hp2 HG04199.hp2 NA18612.hp2 NA18946.hp1 NA18981.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0044 others(9): Show a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0081 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0206 a0002c0002t0001g0212 a0002c0002t0001g0213	19	367	0.0518	18	c.4-1 others(31): Show c.4-1296_4-1279dupGGAACCCCCTCCTCTCAC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344719	A A	AGGGGATT others(11): Show AGGGGATTGTGTGAGGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	367	0.0027	18	c.4-1 others(31): Show c.4-1429_4-1428insCCCCCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344737	A A	AGGGGATT others(11): Show AGGGGATTGTGTGAGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01516.hp2 HG01517.hp2 others(23): Show HG00544.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02965.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18946.hp1 NA18969.hp1 NA18981.hp2 NA19010.hp2 NA19043.hp2 NA19066.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0225 others(18): Show a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0197 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0221	26	367	0.0708	18	c.4-1 others(31): Show c.4-1447_4-1446insCCCTCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM_chr5_102750305_103034716	102766926	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02273.hp2 HG02895.hp1 others(3): Show HG02148.hp1 HG02273.hp2 HG02895.hp1 HG02897.hp2 HG03579.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0001t0001 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0048 a0001c0001t0001g0098 a0001c0001t0001g0104 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0007g0021 a0001c0002t0004g0091	6	188	0.0319	18	c.-37 others(39): Show c.-374+11592_-374+11609dupTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0107 a0001c0005t0002g0046 a0001c0002t0002g0107 a0001c0005t0002g0046	2	188	0.0106	18	c.-37 others(39): Show c.-374+24571_-374+24572insTATATACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	188	0.0053	18	c.-37 others(39): Show c.-374+24571_-374+24572insTATATATACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp1 HG01123.hp2 others(10): Show HG00597.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01934.hp2 HG02148.hp1 HG02886.hp2 HG04228.hp1 NA18983.hp2 NA19004.hp2 NA19010.hp2 NA19056.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0002c0004t0003	a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0121 others(10): Show a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0121 a0001c0001t0002g0022 a0001c0001t0003g0063 a0001c0001t0003g0075 a0001c0001t0006g0083 a0001c0002t0004g0044 a0001c0002t0004g0071 a0001c0002t0004g0072 a0001c0002t0004g0088 a0001c0002t0004g0091 a0002c0004t0003g0069	13	188	0.0692	18	c.-37 others(39): Show c.-374+24571_-374+24572insTATATATATACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102795189	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	188	0.0053	18	c.-37 others(39): Show c.-374+39847_-374+39864dupAAAAAAAAAAAAAAAAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar

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