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
PARP10_chr8_143972158_143991460	143981552	A A	ATGATGGT others(33): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp1 HG03516.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0208 a0002c0002t0003g0210 a0002c0002t0003g0208 a0002c0002t0003g0210	2	380	0.0053	40	c.255 others(59): Show c.2556+1379_2556+1380insCCACCATCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP4_chr13_24415931_24517778	24455480	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	362	0.0028	40	c.256 others(57): Show c.2563-269_2563-268insATATATATATATATATATATATATATAT ATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARVG_chr22_44175925_44213469	44182348	A A	ACGCCCAG others(33): Show ACGCCCAGGCCAGGCTCTTTCGTTTTCTCTGGCCATGGCCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	422	0.0024	40	c.-13 others(55): Show c.-13+432_-13+471dupCGCCCAGGCCAGGCTCTTTCGTTTTCTCTG GCCATGGCCC	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(33): Show CTCCCTCCCTCCCTCCCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	221	0.0045	40	c.717 others(57): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCTTTCTTTCTTTC TTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61813364	T T	TATATATA others(33): Show TATATATATACATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0026 a0026	a0026c0134 a0026c0134	a0026c0134t0002 a0026c0134t0002	a0026c0134t0002g0105 a0026c0134t0002g0105	1	158	0.0063	40	c.168 others(59): Show c.1683+4843_1683+4844insCATATATATATATATATATATATATA TATACATATATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0100 a0003c0100	a0003c0100t0003 a0003c0100t0003	a0003c0100t0003g0008 a0003c0100t0003g0008	1	158	0.0063	40	c.313 others(59): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0040 a0040	a0040c0035 a0040c0035	a0040c0035t0022 a0040c0035t0022	a0040c0035t0022g0117 a0040c0035t0022g0117	1	158	0.0063	40	c.367 others(61): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632663	A A	ATATATCT others(33): Show ATATATCTATATATATATCTATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01106.hp1 others(23): Show HG00639.hp2 HG00733.hp1 HG01106.hp1 HG01243.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp1 HG02970.hp2 HG03130.hp1 NA18939.hp2 NA18941.hp2 NA18949.hp2 NA18961.hp1 NA18967.hp2 NA18991.hp1 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19078.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0006g0032	26	276	0.0942	40	c.57 others(51): Show c.5726_*5727insGATATATATAGATATATATATAGATATATATATA GATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4052		chr11	TogoVar
PATZ1_chr22_31320804_31351346	31348401	A A	AAAAAAAC others(33): Show AAAAAAACCCAAACCAACACCAAAACAACACAACAACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	386	0.0026	40	c.-28 others(51): Show c.-2800_-2799insGGGTGTTGTTGTGTTGTTTTGGTGTTGGTTTGGG TTTTTT	PATZ1	ENSG00000100105.18	transcript	ENST00000266269.10	protein_coding		2056		chr22	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(33): Show TATTCCTATTCCTATTCCTATTCCTATTCCTATTCCATTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0184 a0002c0002t0017g0184	1	256	0.0039	40	c.517 others(59): Show c.517-18675_517-18674insGGAATGGAATAGGAATAGGAATAGGA ATAGGAATAGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
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	400	0.0025	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 a0006 a0001 a0006	a0001c0001 a0001c0014 a0006c0010 a0001c0001 a0001c0014 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0014t0048 a0006c0010t0030	a0001c0001t0001g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 others(4): Show a0001c0001t0001g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0008g0008 a0001c0001t0018g0022 a0001c0014t0048g0062 a0006c0010t0030g0008	16	400	0.0400	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	a0001c0002t0001g0224 a0001c0002t0001g0224	1	328	0.0031	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	a0001c0001t0001g0109 a0001c0001t0001g0178 a0001c0001t0003g0198 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0178 a0001c0001t0003g0198 a0001c0001t0003g0205 a0001c0001t0006g0121	5	328	0.0152	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	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0200 a0001c0002t0009g0200	1	274	0.0037	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	a0003c0004t0002g0144 a0003c0004t0002g0144	1	392	0.0026	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	a0001c0001t0003g0221 a0001c0001t0003g0221	1	292	0.0034	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	a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0011g0281 others(2): Show a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0022g0216	5	292	0.0171	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	300	0.0133	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	300	0.0033	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	a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0058 a0001c0001t0001g0062	2	300	0.0067	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	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0104 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0104 a0001c0001t0001g0191	4	300	0.0133	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	a0001c0001t0001g0098 a0001c0001t0001g0098	1	154	0.0065	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	a0001c0001t0003g0074 a0001c0001t0006g0003 a0001c0001t0008g0058 a0001c0001t0003g0074 a0001c0001t0006g0003 a0001c0001t0008g0058	3	154	0.0195	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	154	0.0065	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	115	0.0087	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	115	0.0174	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	115	0.0087	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	115	0.0087	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	a0027 a0027	a0027c0031 a0027c0031	a0027c0031t0010 a0027c0031t0010	a0027c0031t0010g0066 a0027c0031t0010g0066	1	102	0.0098	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	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0011 a0007c0007t0002g0011	1	102	0.0098	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	a0019 a0019	a0019c0038 a0019c0038	a0019c0038t0001 a0019c0038t0001	a0019c0038t0001g0040 a0019c0038t0001g0040	1	102	0.0098	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	a0035 a0035	a0035c0025 a0035c0025	a0035c0025t0007 a0035c0025t0007	a0035c0025t0007g0079 a0035c0025t0007g0079	1	102	0.0098	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 a0024 a0005 a0024	a0005c0005 a0024c0029 a0005c0005 a0024c0029	a0005c0005t0004 a0024c0029t0011 a0005c0005t0004 a0024c0029t0011	a0005c0005t0004g0076 a0024c0029t0011g0099 a0005c0005t0004g0076 a0024c0029t0011g0099	2	102	0.0196	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	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0072 a0011c0017t0002g0072	1	102	0.0098	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	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0011 a0009c0013t0001g0011	1	94	0.0106	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	a0004c0004t0001g0037 a0004c0004t0001g0037	1	94	0.0106	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	a0031 a0031	a0031c0032 a0031c0032	a0031c0032t0001 a0031c0032t0001	a0031c0032t0001g0072 a0031c0032t0001g0072	1	94	0.0106	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 a0020 a0005 a0020	a0005c0009 a0020c0037 a0005c0009 a0020c0037	a0005c0009t0002 a0020c0037t0001 a0005c0009t0002 a0020c0037t0001	a0005c0009t0002g0070 a0020c0037t0001g0091 a0005c0009t0002g0070 a0020c0037t0001g0091	2	94	0.0213	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	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0066 a0011c0021t0001g0066	1	94	0.0106	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	a0001c0001t0008g0262 a0001c0001t0008g0262	1	281	0.0036	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	a0001c0001t0008g0265 a0001c0001t0008g0265	1	281	0.0036	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	214	0.0140	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	a0001c0001t0043 a0001c0002t0002 a0001c0001t0043 a0001c0002t0002	a0001c0001t0043g0009 a0001c0002t0002g0157 a0001c0001t0043g0009 a0001c0002t0002g0157	2	214	0.0094	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	a0001c0001t0008g0037 a0001c0001t0008g0037	1	214	0.0047	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 a0001c0001t0049 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0049 a0001c0005t0030	a0001c0001t0001g0109 a0001c0001t0008g0025 a0001c0001t0049g0195 others(1): Show a0001c0001t0001g0109 a0001c0001t0008g0025 a0001c0001t0049g0195 a0001c0005t0030g0104	4	214	0.0187	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 a0001c0001t0027 a0001c0001t0002 a0001c0001t0015 a0001c0001t0027	a0001c0001t0002g0061 a0001c0001t0015g0033 a0001c0001t0027g0031 a0001c0001t0002g0061 a0001c0001t0015g0033 a0001c0001t0027g0031	3	214	0.0140	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	80	0.0250	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	a0003c0003t0001g0028 a0003c0003t0001g0028	1	260	0.0039	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	a0001c0001t0001g0122 a0001c0001t0001g0122	1	260	0.0039	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

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