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
PAX1_chr20_21700664_21723481	21721452	T T	TATATATA others(33): Show TATATATATGTAATGTATATTATATATGTAATACATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	76	0.0132	40	c.68 others(51): Show c.6890_*6891insATATATATGTAATGTATATTATATATGTAATACA TATATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2972		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721452	T T	TATATATG others(33): Show TATATATGTAATGTATATAATATATATGTAATACATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02145.hp2 others(13): Show HG01109.hp1 HG01891.hp2 HG02145.hp2 HG02698.hp2 HG02717.hp1 HG02895.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG04204.hp1 NA18906.hp1 NA19078.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0014 a0004c0010 a0001c0001 a0001c0014 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0014t0047 a0004c0010t0030	a0001c0001t0001g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 others(4): Show a0001c0001t0001g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0008g0008 a0001c0001t0018g0022 a0001c0014t0047g0062 a0004c0010t0030g0008	16	91	0.1758	40	c.68 others(51): Show c.6890_*6891insATATATGTAATGTATATAATATATATGTAATACA TATATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2972		chr20	TogoVar
PAX3_chr2_222194887_222303998	222265646	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	106	0.0094	40	c.586 others(59): Show c.586+28481_586+28520dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265691	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03130.hp1 HG03834.hp1 others(2): Show HG00741.hp2 HG03130.hp1 HG03834.hp1 NA18968.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0107 a0001c0001t0001g0207 a0001c0001t0003g0180 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0207 a0001c0001t0003g0180 a0001c0001t0003g0208 a0001c0001t0006g0106	5	241	0.0207	40	c.586 others(59): Show c.586+28475_586+28476insTCTCTCTCCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36973135	A A	AAAAGGAA others(33): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0200 a0001c0002t0006g0200	1	243	0.0041	40	c.605 others(57): Show c.605-6451_605-6412dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0141 a0003c0004t0002g0141	1	278	0.0036	40	c.595 others(57): Show c.595+4221_595+4222insTATATATATATATATATATATATATATA TATATATATATA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(33): Show GTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	7	0.1429	40	c.-27 others(59): Show c.-278-1780_-278-1779insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(33): Show GTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02258.hp1 HG02451.hp2 others(2): Show HG01175.hp1 HG02258.hp1 HG02451.hp2 HG02717.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0022 a0001c0001t0002 a0001c0001t0011 a0001c0001t0022	a0001c0001t0002g0242 a0001c0001t0002g0252 a0001c0001t0011g0280 others(2): Show a0001c0001t0002g0242 a0001c0001t0002g0252 a0001c0001t0011g0280 a0001c0001t0011g0281 a0001c0001t0022g0216	5	11	0.4545	40	c.-27 others(59): Show c.-278-1776_-278-1775insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG02300.hp2 others(1): Show HG00280.hp2 HG00733.hp1 HG02300.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0155	4	237	0.0169	40	c.543 others(57): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT ATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATGT others(33): Show GTGTATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	234	0.0043	40	c.543 others(57): Show c.543+2376_543+2377insGTATGTATATATATATATATATATATAT ATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299538	G G	GTGTATAG others(33): Show GTGTATAGGTATGCATGTGTATGTATGTATATGCATGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02723.hp1 HG00741.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0062 a0001c0001t0001g0066	2	283	0.0071	40	c.885 others(57): Show c.885-1312_885-1273dupATGTATGTATATGCATGTGTATGTATAG GTATGCATGTGT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299718	A A	ATGTATGT others(33): Show ATGTATGTATATGCATGTGTATGTATAGGTATGCATGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18965.hp2 NA18977.hp1 others(1): Show NA18943.hp1 NA18965.hp2 NA18977.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0106 a0001c0001t0001g0190	4	298	0.0134	40	c.885 others(57): Show c.885-1301_885-1262dupTGCATGTGTATGTATAGGTATGCATGTG TGTGTATGTATA	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	46	0.0217	40	c.303 others(61): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02572.hp1 HG03195.hp1 HG01952.hp1 HG02572.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008	a0001c0001t0003g0104 a0001c0001t0006g0003 a0001c0001t0008g0056 a0001c0001t0003g0104 a0001c0001t0006g0003 a0001c0001t0008g0056	3	48	0.0625	40	c.303 others(61): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(33): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	28	0.0357	40	c.314 others(61): Show c.3145-61095_3145-61094insTATATATATATATATATATATATA TAGAGAGAGAGAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	9	0.1111	40	c.285 others(63): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTCCCTTCTT TCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19091.hp1 HG02895.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0001 a0001c0001t0003 a0001c0006t0001	a0001c0001t0003g0089 a0001c0006t0001g0002 a0001c0001t0003g0089 a0001c0006t0001g0002	2	10	0.2000	40	c.285 others(63): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTCCTTTCTT TCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	9	0.1111	40	c.285 others(63): Show c.2854-127930_2854-127929insCTCCCTCCCTCCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(33): Show CCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0057 a0004c0005t0001g0057	1	9	0.1111	40	c.285 others(63): Show c.2854-127930_2854-127929insCTCCCTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53855899	G G	GATGTGTA others(33): Show GATGTGTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0010 a0024c0031t0010	a0024c0031t0010g0069 a0024c0031t0010g0069	1	90	0.0111	40	c.380 others(59): Show c.3806+1275_3806+1276insATATATATATATATATATATATATAT ATATATATACACAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0011 a0008c0007t0002g0011	1	22	0.0455	40	c.380 others(59): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888306	A A	ACATATAT others(33): Show ACATATATATATATGTATATGTATATATATACGTATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0011 a0011	a0011c0038 a0011c0038	a0011c0038t0001 a0011c0038t0001	a0011c0038t0001g0039 a0011c0038t0001g0039	1	88	0.0114	40	c.350 others(61): Show c.3501+14936_3501+14937insCATATATACGTATATATATACATA TACATATATATATATG	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888311	T T	TATATGTA others(33): Show TATATGTATATGTATATATATACGTATATATATGTATGTAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0030 a0030	a0030c0025 a0030c0025	a0030c0025t0007 a0030c0025t0007	a0030c0025t0007g0079 a0030c0025t0007g0079	1	49	0.0204	40	c.350 others(61): Show c.3501+14931_3501+14932insGTACATACATATATATACGTATAT ATATACATATACATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54271998	T T	TATATATA others(33): Show TATATATATATCATATATATATATTTTATATATAATATATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03471.hp2 HG02486.hp2 HG03471.hp2	a0005 a0020 a0005 a0020	a0005c0005 a0020c0029 a0005c0005 a0020c0029	a0005c0005t0004 a0020c0029t0011 a0005c0005t0004 a0020c0029t0011	a0005c0005t0004g0076 a0020c0029t0011g0099 a0005c0005t0004g0076 a0020c0029t0011g0099	2	100	0.0200	40	c.877 others(59): Show c.877-35068_877-35067insCATATATTATATATAAAATATATATA TATGATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54697625	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0031 a0031	a0031c0017 a0031c0017	a0031c0017t0002 a0031c0017t0002	a0031c0017t0002g0072 a0031c0017t0002g0072	1	14	0.0714	40	c.-28 others(59): Show c.-28-33336_-28-33335insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855904	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0011 a0010c0013t0001g0011	1	21	0.0476	40	c.380 others(59): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888306	A A	ACATATAT others(33): Show ACATATATATATATGTATATGTATATATATACGTATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0036 a0004c0004t0001g0036	1	80	0.0125	40	c.350 others(61): Show c.3501+14936_3501+14937insCATATATACGTATATATATACATA TACATATATATATATG	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888311	T T	TATATGTA others(33): Show TATATGTATATGTATATATATACGTATATATATGTATGTAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0072 a0023c0031t0001g0072	1	43	0.0233	40	c.350 others(61): Show c.3501+14931_3501+14932insGTACATACATATATATACGTATAT ATATACATATACATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54271998	T T	TATATATA others(33): Show TATATATATATCATATATATATATTTTATATATAATATATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03471.hp2 HG02486.hp2 HG03471.hp2	a0005 a0016 a0005 a0016	a0005c0009 a0016c0036 a0005c0009 a0016c0036	a0005c0009t0002 a0016c0036t0001 a0005c0009t0002 a0016c0036t0001	a0005c0009t0002g0070 a0016c0036t0001g0091 a0005c0009t0002g0070 a0016c0036t0001g0091	2	92	0.0217	40	c.877 others(59): Show c.877-35068_877-35067insCATATATTATATATAAAATATATATA TATGATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54697625	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0001 a0024c0021t0001	a0024c0021t0001g0066 a0024c0021t0001g0066	1	16	0.0625	40	c.-28 others(59): Show c.-28-33336_-28-33335insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0264 a0001c0001t0008g0264	1	180	0.0056	40	c.284 others(61): Show c.2848+19037_2848+19038insAAAAAAAAAAAATATATATATATA TATATATATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0266 a0001c0001t0008g0266	1	180	0.0056	40	c.284 others(61): Show c.2848+19037_2848+19038insAAAAAAAAAAAAAATATATATATA TATATATATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG03471.hp1 HG02630.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0119 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0119	3	41	0.0732	40	c.339 others(61): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02280.hp2 HG00140.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0002 a0001c0001t0041 a0001c0002t0002	a0001c0001t0041g0009 a0001c0002t0002g0156 a0001c0001t0041g0009 a0001c0002t0002g0156	2	40	0.0500	40	c.339 others(61): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	39	0.0256	40	c.339 others(61): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02630.hp2 HG03041.hp2 others(1): Show HG00609.hp1 HG02630.hp2 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0047 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0047 a0001c0005t0031	a0001c0001t0001g0110 a0001c0001t0008g0026 a0001c0001t0047g0202 others(1): Show a0001c0001t0001g0110 a0001c0001t0008g0026 a0001c0001t0047g0202 a0001c0005t0031g0104	4	42	0.0952	40	c.339 others(61): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	30974246	C C	CTTCCTTT others(33): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02523.hp1 NA19000.hp2 HG00544.hp1 HG02523.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0025 a0001c0001t0002 a0001c0001t0015 a0001c0001t0025	a0001c0001t0002g0086 a0001c0001t0015g0031 a0001c0001t0025g0028 a0001c0001t0002g0086 a0001c0001t0015g0031 a0001c0001t0025g0028	3	100	0.0300	40	c.339 others(61): Show c.3391+53905_3391+53906insCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTC	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	67214952	A A	ATATATAT others(33): Show ATATATATATATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG06807.hp1 HG00741.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0003 a0001c0006t0001 a0001c0006t0003	a0001c0006t0001g0027 a0001c0006t0003g0026 a0001c0006t0001g0027 a0001c0006t0003g0026	2	78	0.0256	40	c.303 others(61): Show c.3036+10452_3036+10453insCATATATATATATATATATACATA TATATATATATATATA	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	2/4			chr13	TogoVar
PCDHA10_chr5_140850897_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0027	1	128	0.0078	40	c.238 others(61): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	132	0.0076	40	c.239 others(61): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	130	0.0077	40	c.236 others(61): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	127	0.0079	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0094 a0001c0005t0001g0094	1	97	0.0103	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	98	0.0102	40	c.238 others(61): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	103	0.0097	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	106	0.0094	40	c.238 others(61): Show c.2386-32317_2386-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	109	0.0092	40	c.235 others(61): Show c.2353-32317_2353-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	1	115	0.0087	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	123	0.0081	40	c.235 others(61): Show c.2356-32317_2356-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	128	0.0078	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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