Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(29): Show GTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01255.hp2 others(10): Show HG01069.hp1 HG01070.hp2 HG01255.hp2 HG02040.hp2 HG02523.hp2 HG02572.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG04115.hp2 NA18962.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0245 others(10): Show a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0245 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0274 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0007g0238 a0001c0001t0007g0258	13	292	0.0445	36	c.-27 others(55): Show c.-278-1776_-278-1775insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	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(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01109.hp2 others(2): Show HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01433.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0148 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156	5	300	0.0167	36	c.543 others(53): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT ATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299756	G G	GTATGTAT others(29): Show GTATGTATGTATATGCATGTGTATGTATAGGTATGCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02523.hp2 HG02132.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0064 a0001c0001t0001g0065	2	300	0.0067	36	c.885 others(53): Show c.885-1273_885-1272insATGTATGTATATGCATGTGTATGTATAG GTATGCAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0035 a0002c0004t0009g0035	1	154	0.0065	36	c.303 others(57): Show c.3033+65795_3033+65796insATATATATATATATATATATATAT ATATATATATAT	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(29): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0059 a0001c0001t0025g0059	1	154	0.0065	36	c.303 others(57): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCTTTCTTTC TTTCTTTCTTTC	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(29): Show TATATATATATATATATATAGAGACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19058.hp1 NA18967.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0042 a0001c0001t0001g0066	2	154	0.0130	36	c.314 others(57): Show c.3145-61095_3145-61094insTATATATATATATATATAGAGACA GAGAGAGAGAGA	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(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02965.hp1 HG03098.hp1 others(3): Show HG02738.hp1 HG02965.hp1 HG03098.hp1 NA18952.hp1 NA18995.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0023 a0001c0003t0002 a0002c0004t0009	a0001c0001t0001g0125 a0001c0001t0002g0133 a0001c0001t0010g0150 others(3): Show a0001c0001t0001g0125 a0001c0001t0002g0133 a0001c0001t0010g0150 a0001c0001t0023g0013 a0001c0003t0002g0143 a0002c0004t0009g0041	6	154	0.0390	36	c.314 others(57): Show c.3145-56452_3145-56417dupTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	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(29): Show CCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02132.hp1 NA18982.hp1 HG01074.hp1 HG02132.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0100 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0100	3	115	0.0261	36	c.285 others(59): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTCCTTTCTT TCTTTCTTTCTTTC	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(29): Show CCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	115	0.0087	36	c.285 others(59): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTTCTTTCTT TCTTTCTTTCTTTC	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(29): Show CCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19056.hp1 HG03098.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0076 a0001c0001t0009g0112 a0001c0001t0006g0076 a0001c0001t0009g0112	2	115	0.0174	36	c.285 others(59): Show c.2854-127930_2854-127929insCTCCCTCCCTCCTTTCTTTCTT TCTTTCTTTCTTTC	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(29): Show CCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02071.hp1 HG01069.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0062 a0001c0001t0001g0083	2	115	0.0174	36	c.285 others(59): Show c.2854-127930_2854-127929insCTCCCTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	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(29): Show CCCTCCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	115	0.0087	36	c.285 others(59): Show c.2854-127930_2854-127929insCTCCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	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(29): Show GATGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 HG02280.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0027 a0002c0002t0004 a0002c0002t0027	a0002c0002t0004g0041 a0002c0002t0027g0064 a0002c0002t0004g0041 a0002c0002t0027g0064	2	102	0.0196	36	c.380 others(55): Show c.3806+1275_3806+1276insATATATATATATATATATATATATAT ATATACACAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18945.hp2 HG03492.hp2 NA18945.hp2	a0006 a0011 a0006 a0011	a0006c0006 a0011c0017 a0006c0006 a0011c0017	a0006c0006t0002 a0011c0017t0002 a0006c0006t0002 a0011c0017t0002	a0006c0006t0002g0050 a0011c0017t0002g0072 a0006c0006t0002g0050 a0011c0017t0002g0072	2	102	0.0196	36	c.380 others(55): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53855924	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	102	0.0098	36	c.380 others(55): Show c.3806+1250_3806+1251insCATACATATATATATATATATATATA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54332245	T T	TATATAAT others(29): Show TATATAATCTATATTATATATTATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02886.hp1 others(11): Show HG02145.hp2 HG02486.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0010 a0012 a0022 a0024 a0027 a0028 a0030	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0010c0009 a0012c0016 a0022c0028 a0024c0029 a0027c0031 a0028c0034 a0030c0036	a0001c0001t0001 a0001c0001t0003 a0002c0002t0023 others(10): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0023 a0003c0003t0001 a0003c0003t0019 a0010c0009t0011 a0010c0009t0012 a0012c0016t0001 a0022c0028t0004 a0024c0029t0011 a0027c0031t0010 a0028c0034t0013 a0030c0036t0004	a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0003g0087 others(11): Show a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0003g0087 a0002c0002t0023g0034 a0003c0003t0001g0084 a0003c0003t0019g0060 a0010c0009t0011g0078 a0010c0009t0012g0042 a0012c0016t0001g0028 a0022c0028t0004g0013 a0024c0029t0011g0099 a0027c0031t0010g0066 a0028c0034t0013g0058 a0030c0036t0004g0061	14	102	0.1373	36	c.595 others(53): Show c.595-2575_595-2540dupTATATTATATATAATAATATATAATATA GATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54421914	A A	ATATATAT others(29): Show ATATATATATATACACACACACTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp1 HG02922.hp2 HG03209.hp1	a0006 a0013 a0006 a0013	a0006c0006 a0013c0015 a0006c0006 a0013c0015	a0006c0006t0010 a0013c0015t0001 a0006c0006t0010 a0013c0015t0001	a0006c0006t0010g0030 a0013c0015t0001g0029 a0006c0006t0010g0030 a0013c0015t0001g0029	2	102	0.0196	36	c.158 others(55): Show c.158-42973_158-42972insGTGTATATATATATAGTGTGTGTGTA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54421914	A A	ATATATAT others(29): Show ATATATATATATACACACACTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	102	0.0098	36	c.158 others(55): Show c.158-42973_158-42972insGTGTATATATATATATAGTGTGTGTA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0016 a0002c0002t0005g0016	1	102	0.0098	36	c.-28 others(55): Show c.-28-67274_-28-67273insGTATATATATATATATATATATATAT ATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54796258	C C	CTATCTAT others(29): Show CTATCTATCTATCTATCTATCTGTCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0010 a0006c0006t0010	a0006c0006t0010g0030 a0006c0006t0010g0030	1	102	0.0098	36	c.-29 others(53): Show c.-29+4666_-29+4667insCATAGATACATAGACAGATAGATAGATA GATAGATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855899	G G	GATGTGTA others(29): Show GATGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 HG02280.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0038 a0002c0002t0010g0060 a0002c0002t0002g0038 a0002c0002t0010g0060	2	94	0.0213	36	c.380 others(55): Show c.3806+1275_3806+1276insATATATATATATATATATATATATAT ATATACACAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855904	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18945.hp2 HG03492.hp2 NA18945.hp2	a0006 a0011 a0006 a0011	a0006c0042 a0011c0021 a0006c0042 a0011c0021	a0006c0042t0001 a0011c0021t0001 a0006c0042t0001 a0011c0021t0001	a0006c0042t0001g0047 a0011c0021t0001g0066 a0006c0042t0001g0047 a0011c0021t0001g0066	2	94	0.0213	36	c.380 others(55): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855924	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0059 a0002c0006t0001g0059	1	94	0.0106	36	c.380 others(55): Show c.3806+1250_3806+1251insCATACATATATATATATATATATATA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332245	T T	TATATAAT others(29): Show TATATAATCTATATTATATATTATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02922.hp1 others(8): Show HG02145.hp1 HG02486.hp2 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0012 a0018 a0020 a0022 a0025 a0026 a0027	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0003c0005 a0012c0020 a0018c0034 a0020c0037 a0022c0039 a0025c0041 a0026c0026 a0027c0027	a0001c0001t0001 a0001c0007t0001 a0002c0002t0009 others(8): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0009 a0003c0005t0001 a0012c0020t0001 a0018c0034t0003 a0020c0037t0001 a0022c0039t0001 a0025c0041t0002 a0026c0026t0001 a0027c0027t0008	a0001c0001t0001g0081 a0001c0007t0001g0079 a0002c0002t0009g0031 others(8): Show a0001c0001t0001g0081 a0001c0007t0001g0079 a0002c0002t0009g0031 a0003c0005t0001g0076 a0012c0020t0001g0025 a0018c0034t0003g0013 a0020c0037t0001g0091 a0022c0039t0001g0093 a0025c0041t0002g0057 a0026c0026t0001g0056 a0027c0027t0008g0039	11	94	0.1170	36	c.595 others(53): Show c.595-2575_595-2540dupTATATTATATATAATAATATATAATATA GATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54421914	A A	ATATATAT others(29): Show ATATATATATATACACACACACTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp2 HG02922.hp2 HG03209.hp2	a0006 a0013 a0006 a0013	a0006c0008 a0013c0017 a0006c0008 a0013c0017	a0006c0008t0001 a0013c0017t0001 a0006c0008t0001 a0013c0017t0001	a0006c0008t0001g0027 a0013c0017t0001g0026 a0006c0008t0001g0027 a0013c0017t0001g0026	2	94	0.0213	36	c.158 others(55): Show c.158-42973_158-42972insGTGTATATATATATAGTGTGTGTGTA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54421914	A A	ATATATAT others(29): Show ATATATATATATACACACACTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	94	0.0106	36	c.158 others(55): Show c.158-42973_158-42972insGTGTATATATATATATAGTGTGTGTA TATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54731563	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0016 a0002c0006t0001g0016	1	94	0.0106	36	c.-28 others(55): Show c.-28-67274_-28-67273insGTATATATATATATATATATATATAT ATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54796258	C C	CTATCTAT others(29): Show CTATCTATCTATCTATCTATCTGTCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0027 a0006c0008t0001g0027	1	94	0.0106	36	c.-29 others(53): Show c.-29+4666_-29+4667insCATAGATACATAGACAGATAGATAGATA GATAGATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0103 a0001c0001t0033g0103	1	281	0.0036	36	c.284 others(57): Show c.2848+19037_2848+19038insAAAAAATATATATATATATATATA TATATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0011 a0001c0001t0016g0011	1	281	0.0036	36	c.284 others(57): Show c.2848+19037_2848+19038insAAAAAAAAAAAAAAAAAATATATA TATATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(29): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0261 a0001c0001t0008g0261	1	281	0.0036	36	c.284 others(57): Show c.2848+19037_2848+19038insAAAAAAAAAAAAAAAAAAAATATA TATATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH7_chr4_30715369_31151800	30716893	A A	AAGCAGCA others(29): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0102 a0001c0005t0022g0102	1	214	0.0047	36	c.-45 others(47): Show c.-4530_-4529insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GC	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding		3475		chr4	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02559.hp2 HG03195.hp2 HG00738.hp1 HG02559.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0044 a0001c0001t0001 a0001c0001t0009 a0001c0001t0044	a0001c0001t0001g0011 a0001c0001t0009g0171 a0001c0001t0044g0010 a0001c0001t0001g0011 a0001c0001t0009g0171 a0001c0001t0044g0010	3	214	0.0140	36	c.339 others(57): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGG	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(29): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG01891.hp2 others(4): Show HG00741.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 NA18983.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0050	a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0176 others(4): Show a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0176 a0001c0001t0013g0179 a0001c0001t0013g0180 a0001c0001t0013g0201 a0001c0001t0050g0174	7	214	0.0327	36	c.339 others(57): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGG	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(29): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02074.hp2 HG02976.hp2 others(6): Show HG00673.hp2 HG02074.hp2 HG02976.hp2 HG03017.hp1 NA18945.hp1 NA18948.hp2 NA18986.hp2 NA19060.hp1 NA19066.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0015 a0001c0001 a0001c0002 a0006c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0006c0015t0001	a0001c0001t0001g0020 a0001c0001t0001g0083 a0001c0001t0001g0172 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0083 a0001c0001t0001g0172 a0001c0001t0005g0024 a0001c0001t0014g0032 a0001c0001t0024g0046 a0001c0001t0025g0036 a0001c0002t0001g0167 a0006c0015t0001g0091	9	214	0.0421	36	c.339 others(57): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGG	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(29): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG03453.hp2 others(2): Show HG02280.hp1 HG02647.hp2 HG03453.hp2 NA18522.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 a0001c0004t0007	a0001c0001t0002g0061 a0001c0001t0007g0197 a0001c0001t0019g0177 others(2): Show a0001c0001t0002g0061 a0001c0001t0007g0197 a0001c0001t0019g0177 a0001c0001t0019g0178 a0001c0004t0007g0021	5	214	0.0234	36	c.339 others(57): Show c.3391+39785_3391+39786insAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGG	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(29): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA21309.hp2 HG02257.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0037 a0001c0012t0046 a0001c0001t0037 a0001c0012t0046	a0001c0001t0037g0074 a0001c0012t0046g0008 a0001c0001t0037g0074 a0001c0012t0046g0008	2	214	0.0094	36	c.339 others(57): Show c.3391+39785_3391+39786insAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	66445510	C C	CACACATA others(29): Show CACACATATATAATATATACACATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02145.hp2 others(4): Show HG01109.hp1 HG01884.hp2 HG02145.hp2 HG03195.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0005c0012	a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0003t0005 a0001c0004t0001 a0005c0012t0004	a0001c0001t0003g0065 a0001c0001t0015g0050 a0001c0001t0016g0080 others(4): Show a0001c0001t0003g0065 a0001c0001t0015g0050 a0001c0001t0016g0080 a0001c0001t0019g0075 a0001c0003t0005g0036 a0001c0004t0001g0043 a0005c0012t0004g0004	7	80	0.0875	36	c.334 others(59): Show c.3341-140518_3341-140483dupATATATAATATATATGTGTATA TATTATATATGTGT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	4/4			chr13	TogoVar
PCDH9_chr13_66297834_67235336	66445706	G G	GTATACAC others(29): Show GTATACACATATATAATACATACACATATATATTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG03195.hp1 others(1): Show HG01109.hp1 HG02145.hp2 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 others(1): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0004t0001	a0001c0001t0015g0050 a0001c0001t0016g0080 a0001c0001t0019g0075 others(1): Show a0001c0001t0015g0050 a0001c0001t0016g0080 a0001c0001t0019g0075 a0001c0004t0001g0043	4	80	0.0500	36	c.334 others(59): Show c.3341-140714_3341-140679dupTATAATATATATGTGTATGTAT TATATATGTGTATA	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	4/4			chr13	TogoVar
PCDH9_chr13_66297834_67235336	66829717	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	80	0.0125	36	c.313 others(57): Show c.3138+73786_3138+73787insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCDHA10_chr5_140850897_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	260	0.0039	36	c.238 others(57): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA10_chr5_140850897_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0221 a0001c0001t0006g0221	1	260	0.0039	36	c.238 others(57): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA10_chr5_140850897_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0036 a0003c0003t0007g0036	1	260	0.0039	36	c.238 others(57): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	260	0.0039	36	c.239 others(57): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0129 a0001c0001t0006g0129	1	260	0.0039	36	c.239 others(57): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	260	0.0039	36	c.239 others(57): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	260	0.0039	36	c.236 others(57): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0006 a0001c0020t0006	a0001c0020t0006g0028 a0001c0020t0006g0028	1	260	0.0039	36	c.236 others(57): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATATACACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0141 a0006c0009t0007g0141	1	260	0.0039	36	c.236 others(57): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATATATACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946611	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	260	0.0039	36	c.239 others(57): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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