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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PATJ_chr1_61737480_62168915	61997998	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0039 a0039	a0039c0108 a0039c0108	a0039c0108t0001 a0039c0108t0001	a0039c0108t0001g0132 a0039c0108t0001g0132	1	158	0.0063	21	c.386 others(40): Show c.3867+7634_3867+7635insTATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43			chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0036 a0036	a0036c0044 a0036c0044	a0036c0044t0006 a0036c0044t0006	a0036c0044t0006g0071 a0036c0044t0006g0071	1	158	0.0063	21	c.396 others(40): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62062392	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0096 a0009c0096	a0009c0096t0003 a0009c0096t0003	a0009c0096t0003g0010 a0009c0096t0003g0010	1	158	0.0063	21	c.412 others(42): Show c.4125+11341_4125+11361dupTTTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	31/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62144769	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG01891.hp1 HG02258.hp2	a0012 a0038 a0012 a0038	a0012c0005 a0038c0087 a0012c0005 a0038c0087	a0012c0005t0018 a0038c0087t0007 a0012c0005t0018 a0038c0087t0007	a0012c0005t0018g0107 a0038c0087t0007g0075 a0012c0005t0018g0107 a0038c0087t0007g0075	2	158	0.0127	21	c.527 others(40): Show c.5272-3515_5272-3514insTATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PATJ_chr1_61737480_62168915	62144771	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01978.hp1 HG02280.hp1 others(1): Show HG01884.hp2 HG01978.hp1 HG02280.hp1 HG03688.hp2	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0013	a0002c0029 a0004c0011 a0007c0013 others(1): Show a0002c0029 a0004c0011 a0007c0013 a0013c0004	a0002c0029t0001 a0004c0011t0001 a0007c0013t0015 others(1): Show a0002c0029t0001 a0004c0011t0001 a0007c0013t0015 a0013c0004t0001	a0002c0029t0001g0138 a0004c0011t0001g0012 a0007c0013t0015g0156 others(1): Show a0002c0029t0001g0138 a0004c0011t0001g0012 a0007c0013t0015g0156 a0013c0004t0001g0115	4	158	0.0253	21	c.527 others(40): Show c.5272-3513_5272-3512insTATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PAX5_chr9_36828269_37039268	36984435	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG02896.hp1 others(1): Show HG02109.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0095 a0001c0002t0097 others(1): Show a0001c0001t0001 a0001c0002t0095 a0001c0002t0097 a0002c0004t0001	a0001c0001t0001g0198 a0001c0002t0095g0197 a0001c0002t0097g0199 others(1): Show a0001c0001t0001g0198 a0001c0002t0095g0197 a0001c0002t0097g0199 a0002c0004t0001g0212	4	274	0.0146	21	c.605 others(40): Show c.605-17732_605-17712dupAAAAAAAAAAAAAAAAAAAAA	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31815029	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	376	0.0027	21	c.-42 others(32): Show c.-4232_-4231insGAGAGAGAGAGAGAGAGAGAG	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3708		chr11	TogoVar
PAX9_chr14_36656860_36684362	36672852	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0300 a0002c0002t0001g0300	1	446	0.0022	21	c.772 others(38): Show c.772-3336_772-3316dupTTTTTTTTTTTTTTTTTTTTT	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
PBK_chr8_27804624_27842817	27839791	A A	ATTCTTGG others(14): Show ATTCTTGGAAAAAGATGGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02257.hp1 HG02280.hp2 others(9): Show HG00738.hp1 HG02257.hp1 HG02280.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp2 NA20129.hp1 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0014 a0003c0004t0002g0138 a0003c0004t0002g0139 others(6): Show a0003c0004t0002g0014 a0003c0004t0002g0138 a0003c0004t0002g0139 a0003c0004t0002g0140 a0003c0004t0002g0141 a0003c0004t0002g0142 a0003c0004t0002g0143 a0003c0004t0002g0144 a0003c0004t0002g0145	12	392	0.0306	21	c.-21 others(32): Show c.-2161_-2160insATCTCCATCTTTTTCCAAGAA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding		1975		chr8	TogoVar
PBLD_chr10_68277660_68337928	68319053	G G	GAGAGAGA others(14): Show GAGAGAGAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	364	0.0028	21	c.-59 others(40): Show c.-59-12151_-59-12150insTTCTTTCTTTCTTCTCTCTCT	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01978.hp2 HG02559.hp2 others(1): Show HG00558.hp2 HG01978.hp2 HG02559.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0029 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0029 a0001c0001t0011g0082	4	300	0.0133	21	c.54 others(32): Show c.5423_*5443dupTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding		2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52612258	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	300	0.0033	21	c.197 others(40): Show c.1970-2324_1970-2304dupTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	17/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01934.hp1 NA19056.hp2 HG01496.hp2 HG01934.hp1 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0183 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0183	3	300	0.0100	21	c.108 others(40): Show c.1088-1963_1088-1943dupTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52637773	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG02074.hp1 others(5): Show HG00323.hp2 HG01106.hp2 HG02074.hp1 HG02273.hp2 NA18747.hp1 NA19009.hp1 NA19012.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0018	a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0171 others(5): Show a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0171 a0001c0002t0001g0190 a0001c0002t0001g0222 a0001c0002t0003g0196 a0001c0002t0003g0200 a0001c0002t0018g0247	8	300	0.0267	21	c.108 others(40): Show c.1088-2979_1088-2959dupTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	294	0.0034	21	c.274 others(40): Show c.274+44743_274+44744insTATATATATATATATATATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8			chr9	TogoVar
PBX4_chr19_19556713_19623687	19605416	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp1 HG00733.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0220 a0001c0001t0001g0221	2	376	0.0053	21	c.120 others(38): Show c.120-6072_120-6052dupATTATTATTATTATTATTATT	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	1/7			chr19	TogoVar
PCCA_chr13_100084093_100535435	100348906	C C	CTTTCTTT others(14): Show CTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	174	0.0058	21	c.164 others(40): Show c.1643+8649_1643+8650insTCTTTTCTTTTCTTTTCTTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100400630	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0050 a0002c0003t0001g0051	2	174	0.0115	21	c.174 others(42): Show c.1747-24986_1747-24985insTTTTTTTTTTTTTTTTTTTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100422070	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0050	1	174	0.0058	21	c.174 others(40): Show c.1747-3563_1747-3562insCTTTCTTTCTTTCTTTCTTTC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23			chr13	TogoVar
PCCA_chr13_100084093_100535435	100469211	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp1 HG01175.hp1 others(6): Show HG01123.hp2 HG01168.hp1 HG01175.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG03195.hp2 NA18959.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0010 a0001c0001 a0001c0002 a0003c0010	a0001c0001t0001 a0001c0002t0001 a0003c0010t0001 a0001c0001t0001 a0001c0002t0001 a0003c0010t0001	a0001c0001t0001g0052 a0001c0001t0001g0109 a0001c0001t0001g0137 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0109 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0002t0001g0102 a0003c0010t0001g0101	9	174	0.0517	21	c.189 others(42): Show c.1899+19922_1899+19923insAAAAAAAAAAAAAAAAAAAAA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92111219	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	154	0.0065	21	c.303 others(42): Show c.3034-90144_3034-90124dupAAAAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147799	T T	TTCTTCTT others(14): Show TTCTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	154	0.0065	21	c.303 others(42): Show c.3034-53575_3034-53574insCTTCTTTCTTTCTTTCTTTCT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92247920	G G	GTTTAGTG others(14): Show GTTTAGTGAAACCTGACAACAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00673.hp1 others(23): Show HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01243.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2 NA18949.hp1 NA18953.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18995.hp1 NA19000.hp1 NA19085.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0006 others(2): Show a0001c0001 a0001c0003 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 a0001c0003t0001 a0001c0003t0012 a0002c0006t0009 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0072 others(23): Show a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0005g0050 a0001c0001t0005g0075 a0001c0001t0006g0022 a0001c0001t0012g0052 a0001c0001t0025g0059 a0001c0003t0001g0145 a0001c0003t0012g0144 a0002c0006t0009g0032 a0003c0005t0001g0025 a0004c0007t0001g0020	26	154	0.1688	21	c.311 others(42): Show c.3115-15175_3115-15155dupCAATTTAGTGAAACCTGACAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326622	C C	CTATATAT others(14): Show CTATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0014 a0001c0001t0024g0014	1	154	0.0065	21	c.314 others(42): Show c.3145-61095_3145-61094insTAATATATATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0002g0076 a0001c0001t0001g0047 a0001c0001t0002g0076	2	154	0.0130	21	c.314 others(42): Show c.3145-56437_3145-56417dupTTCTTCTTCTTCTTCTTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331372	T T	TTCCTCCT others(14): Show TTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0150 a0001c0001t0010g0150	1	154	0.0065	21	c.314 others(42): Show c.3145-56343_3145-56342insCTCCTCCTCCTCCTCCTCCTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92355417	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	154	0.0065	21	c.314 others(42): Show c.3145-32307_3145-32287dupAAAAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	154	0.0065	21	c.314 others(42): Show c.3145-12568_3145-12567insATATATATATATATATTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53888702	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	102	0.0098	21	c.350 others(42): Show c.3501+14540_3501+14541insTATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54329181	A A	ATTAGCAC others(14): Show ATTAGCACTTTAATTAGCTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01934.hp1 others(10): Show HG01261.hp2 HG01884.hp1 HG01934.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03942.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0022 a0026 a0033	a0001c0001 a0002c0002 a0002c0021 others(6): Show a0001c0001 a0002c0002 a0002c0021 a0003c0003 a0004c0004 a0006c0006 a0022c0013 a0026c0015 a0033c0037	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0002c0002t0005 a0002c0021t0021 a0003c0003t0002 a0004c0004t0025 a0006c0006t0005 a0006c0006t0010 a0022c0013t0003 a0026c0015t0001 a0033c0037t0013	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0008g0003 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0008g0003 a0001c0001t0020g0095 a0002c0002t0005g0016 a0002c0021t0021g0047 a0003c0003t0002g0020 a0004c0004t0025g0032 a0006c0006t0005g0055 a0006c0006t0010g0030 a0022c0013t0003g0035 a0026c0015t0001g0029 a0033c0037t0013g0062	13	102	0.1275	21	c.705 others(36): Show c.705+414_705+415insAGAAGCTAATTAAAGTGCTAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	7/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54804934	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0065 a0008c0007t0003g0065	1	102	0.0098	21	c.-40 others(32): Show c.-4039_-4038insTATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding		3704		chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888702	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	94	0.0106	21	c.350 others(42): Show c.3501+14540_3501+14541insTATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54329181	A A	ATTAGCAC others(14): Show ATTAGCACTTTAATTAGCTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG01934.hp1 others(10): Show HG01261.hp1 HG01884.hp1 HG01934.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02922.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp1 HG03942.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0015 a0018 a0027	a0001c0001 a0001c0007 a0002c0006 others(7): Show a0001c0001 a0001c0007 a0002c0006 a0003c0005 a0004c0004 a0006c0008 a0008c0015 a0015c0028 a0018c0017 a0027c0043	a0001c0001t0001 a0001c0007t0001 a0002c0006t0001 others(7): Show a0001c0001t0001 a0001c0007t0001 a0002c0006t0001 a0003c0005t0001 a0004c0004t0005 a0006c0008t0001 a0008c0015t0001 a0015c0028t0001 a0018c0017t0001 a0027c0043t0004	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0040 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0007t0001g0087 a0002c0006t0001g0016 a0003c0005t0001g0020 a0004c0004t0005g0029 a0006c0008t0001g0027 a0006c0008t0001g0053 a0008c0015t0001g0032 a0015c0028t0001g0044 a0018c0017t0001g0026 a0027c0043t0004g0058	13	94	0.1383	21	c.705 others(36): Show c.705+414_705+415insAGAAGCTAATTAAAGTGCTAA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	7/32			chr10	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0008 a0001c0006t0009g0008	1	281	0.0036	21	c.284 others(42): Show c.2848+19037_2848+19038insAAAAAAAAATATATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH1_chr5_141848090_141883410	141850528	G G	GGGGGGGG others(14): Show GGGGGGGGGTGGGGGTGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	384	0.0026	21	c.35 others(32): Show c.3513_*3514insACCCCCACCCCCACCCCCCCC	PCDH1	ENSG00000156453.14	transcript	ENST00000287008.8	protein_coding		2561		chr5	TogoVar
PCDH7_chr4_30715369_31151800	30974246	C C	CTTTCCTT others(14): Show CTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0103 a0001c0005t0001g0103	1	214	0.0047	21	c.339 others(42): Show c.3391+53879_3391+53880insTCCTTTCCTTTCCTTTCCTTT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30989272	T T	TTGAACCT others(14): Show TTGAACCTATCTTTAGGTTCAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG03486.hp2 others(2): Show HG01891.hp1 HG02486.hp2 HG03486.hp2 NA18906.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0012 a0001c0003t0047 a0002c0007t0001 a0001c0003t0012 a0001c0003t0047 a0002c0007t0001	a0001c0003t0012g0003 a0001c0003t0012g0004 a0001c0003t0047g0005 others(2): Show a0001c0003t0012g0003 a0001c0003t0012g0004 a0001c0003t0047g0005 a0002c0007t0001g0111 a0002c0007t0001g0113	5	214	0.0234	21	c.339 others(42): Show c.3391+68903_3391+68904insTGAACCTATCTTTAGGTTCAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2			chr4	TogoVar
PCDH7_chr4_30715369_31151800	31074784	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0186	1	214	0.0047	21	c.339 others(42): Show c.3392-67686_3392-67666dupAAAAAAAAAAAAAAAAAAAAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	66811606	T T	TCTGCCTG others(14): Show TCTGCCTGCCTAACCTGCCTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp1 HG03579.hp2 others(1): Show HG02145.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0001c0001t0012 a0002c0005t0002 a0001c0001t0003 a0001c0001t0012 a0002c0005t0002	a0001c0001t0003g0062 a0001c0001t0012g0058 a0002c0005t0002g0006 others(1): Show a0001c0001t0003g0062 a0001c0001t0012g0058 a0002c0005t0002g0006 a0002c0005t0002g0007	4	80	0.0500	21	c.313 others(42): Show c.3138+91877_3138+91897dupGAAGGCAGGTTAGGCAGGCAG	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCDH9_chr13_66297834_67235336	66828810	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03041.hp2 HG03195.hp2 others(1): Show HG01175.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0001c0015 a0004c0016 others(1): Show a0001c0002 a0001c0015 a0004c0016 a0006c0009	a0001c0002t0009 a0001c0015t0001 a0004c0016t0001 others(1): Show a0001c0002t0009 a0001c0015t0001 a0004c0016t0001 a0006c0009t0002	a0001c0002t0009g0014 a0001c0015t0001g0048 a0004c0016t0001g0049 others(1): Show a0001c0002t0009g0014 a0001c0015t0001g0048 a0004c0016t0001g0049 a0006c0009t0002g0003	4	80	0.0500	21	c.313 others(42): Show c.3138+74693_3138+74694insATTATTATTTTTTTTTTTTTT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCDHA10_chr5_140850897_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0091 a0002c0002t0002g0091	1	260	0.0039	21	c.238 others(42): Show c.2389-37755_2389-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	260	0.0039	21	c.239 others(42): Show c.2392-37755_2392-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0162 a0002c0003t0002g0162	1	260	0.0039	21	c.236 others(42): Show c.2368-37755_2368-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	260	0.0039	21	c.239 others(42): Show c.2395-37755_2395-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0108 a0005c0006t0002g0108	1	200	0.0050	21	c.239 others(42): Show c.2395-37755_2395-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	202	0.0050	21	c.238 others(42): Show c.2389-37755_2389-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0117 a0004c0003t0004g0117	1	208	0.0048	21	c.239 others(42): Show c.2395-37755_2395-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	212	0.0047	21	c.238 others(42): Show c.2386-37755_2386-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0002 a0018c0024t0002	a0018c0024t0002g0188 a0018c0024t0002g0188	1	248	0.0040	21	c.235 others(42): Show c.2356-37755_2356-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140941191	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	258	0.0039	21	c.239 others(42): Show c.2395-37755_2395-37754insTCTTTCTTCCTTTCTTTCTTT	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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