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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PARD3_chr10_34104561_34820296	34666816	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	100	0.0100	32	c.222 others(51): Show c.222+29501_222+29502insGTATATATATATATATATATATATAT ATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6B_chr20_50726580_50758741	50750954	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 NA18973.hp2 HG00735.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0079 a0001c0001t0078 a0001c0001t0079	a0001c0001t0078g0193 a0001c0001t0079g0001 a0001c0001t0078g0193 a0001c0001t0079g0001	2	364	0.0055	32	c.46 others(41): Show c.467_*498dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18939.hp2 NA18978.hp1 others(1): Show HG00408.hp1 NA18939.hp2 NA18978.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0308 a0001c0002t0001g0324 others(1): Show a0001c0002t0001g0288 a0001c0002t0001g0308 a0001c0002t0001g0324 a0001c0002t0001g0326	4	382	0.0105	32	c.295 others(49): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195559	A A	ATATATAT others(25): Show ATATATATATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	382	0.0026	32	c.295 others(49): Show c.295+7150_295+7151insCATATATATATATATATGTATATATATA TATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARG_chr10_49813279_49947027	49920529	T T	TGTATATA others(25): Show TGTATATATATACACATATATATACATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	292	0.0034	32	c.166 others(51): Show c.1662+1775_1662+1806dupGTATATATGTATATATATGTGTATAT ATATAC	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	6/17			chr10	TogoVar
PARL_chr3_183824271_183889880	183882249	A A	ATATATAT others(25): Show ATATATATTTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	358	0.0028	32	c.125 others(49): Show c.125+2472_125+2473insAATATATATATATATATATATATAAATA TATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01515.hp1 HG02145.hp2 HG01358.hp2 HG01515.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0028 a0001c0001t0001g0318 a0001c0001t0028g0028 a0001c0001t0001g0028 a0001c0001t0001g0318 a0001c0001t0028g0028	3	366	0.0082	32	c.-33 others(43): Show c.-3319_-3318insAAAAAAAAATATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	366	0.0027	32	c.-33 others(43): Show c.-3319_-3318insAAAAAAATATATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0326 a0001c0003t0007g0326	1	366	0.0027	32	c.-33 others(43): Show c.-3319_-3318insAAAAATATATATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122593120	C C	CTATCTAT others(25): Show CTATCTATCTATCTATCTATCTATCTATCTATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02630.hp2 HG00609.hp2 HG02630.hp2	a0002 a0003 a0002 a0003	a0002c0014 a0003c0003 a0002c0014 a0003c0003	a0002c0014t0014 a0003c0003t0001 a0002c0014t0014 a0003c0003t0001	a0002c0014t0014g0190 a0003c0003t0001g0271 a0002c0014t0014g0190 a0003c0003t0001g0271	2	356	0.0056	32	c.187 others(51): Show c.187-12813_187-12812insCTATCTATCTATCTATCTATCTATCT ATGTAT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19030.hp1 HG02258.hp1 NA19030.hp1	a0002 a0019 a0002 a0019	a0002c0014 a0019c0022 a0002c0014 a0019c0022	a0002c0014t0014 a0019c0022t0008 a0002c0014t0014 a0019c0022t0008	a0002c0014t0014g0189 a0019c0022t0008g0208 a0002c0014t0014g0189 a0019c0022t0008g0208	2	356	0.0056	32	c.187 others(49): Show c.187-4877_187-4876insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03492.hp1 NA18906.hp2 others(2): Show HG02074.hp2 HG03492.hp1 NA18906.hp2 NA18988.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0052 a0001c0002t0001g0054 others(2): Show a0001c0002t0001g0043 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0101 a0001c0002t0001g0146	5	316	0.0158	32	c.175 others(49): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5			chr15	TogoVar
PARP8_chr5_50661637_50851519	50754150	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0029 a0001c0004t0005g0029	1	328	0.0031	32	c.184 others(49): Show c.184+3963_184+3964insTATATATATATATATATACACACACACA CACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARVA_chr11_12372571_12540356	12496345	A A	AGAGTGCA others(25): Show AGAGTGCATGCATGCATGAGTGCATGCATGCAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp2 HG01255.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0087 a0001c0001t0006 a0001c0001t0087	a0001c0001t0006g0056 a0001c0001t0087g0059 a0001c0001t0006g0056 a0001c0001t0087g0059	2	286	0.0070	32	c.401 others(45): Show c.401-88_401-87insCATGCATGAGTGCATGCATGCATGAGTGCATG	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0187 a0001c0001t0011g0187	1	221	0.0045	32	c.717 others(49): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCCCTCCCTCTTTC TTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19056.hp1 NA19076.hp1 NA18966.hp1 NA19056.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0013g0109 a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0013g0109	3	221	0.0136	32	c.717 others(49): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCCCTCTTTCTTTC TTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02135.hp1 HG03927.hp1 HG02056.hp1 HG02135.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0105 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0105	3	221	0.0136	32	c.717 others(49): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCTTTCTTTCTTTC TTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19066.hp1 HG01943.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0140 a0001c0001t0001g0067 a0001c0001t0001g0140	2	221	0.0091	32	c.717 others(49): Show c.717+5168_717+5169insCCTCCCTCCCTCTTTCTTTCTTTCTTTC TTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(25): Show CTCCCTCCCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	221	0.0045	32	c.717 others(49): Show c.717+5168_717+5169insCCTCCCTCTTTCTTTCTTTCTTTCTTTC TTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASK_chr2_241101099_241154472	241120492	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01123.hp2 others(13): Show HG00558.hp2 HG00673.hp2 HG01123.hp2 HG01255.hp2 HG02015.hp2 HG02300.hp1 NA18951.hp1 NA18970.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp1 NA19064.hp2 NA19068.hp2 NA19087.hp2 NA19089.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0004c0018 a0004c0058 others(1): Show a0004c0004 a0004c0018 a0004c0058 a0005c0013	a0004c0004t0001 a0004c0018t0002 a0004c0058t0002 others(2): Show a0004c0004t0001 a0004c0018t0002 a0004c0058t0002 a0005c0013t0001 a0005c0013t0002	a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0088 others(10): Show a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0088 a0004c0004t0001g0180 a0004c0004t0001g0201 a0004c0004t0001g0218 a0004c0018t0002g0047 a0004c0018t0002g0058 a0004c0018t0002g0072 a0004c0058t0002g0305 a0005c0013t0001g0131 a0005c0013t0002g0285 a0005c0013t0002g0317	16	376	0.0426	32	c.307 others(51): Show c.3072+2239_3072+2240insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03209.hp2 HG01257.hp2 HG03209.hp2	a0008 a0011 a0008 a0011	a0008c0041 a0011c0126 a0008c0041 a0011c0126	a0008c0041t0005 a0011c0126t0002 a0008c0041t0005 a0011c0126t0002	a0008c0041t0005g0124 a0011c0126t0002g0026 a0008c0041t0005g0124 a0011c0126t0002g0026	2	158	0.0127	32	c.313 others(51): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	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(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0055 a0055	a0055c0073 a0055c0073	a0055c0073t0004 a0055c0073t0004	a0055c0073t0004g0078 a0055c0073t0004g0078	1	158	0.0063	32	c.367 others(53): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTTTAT others(25): Show TTTTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0054 a0054	a0054c0129 a0054c0129	a0054c0129t0002 a0054c0129t0002	a0054c0129t0002g0147 a0054c0129t0002g0147	1	158	0.0063	32	c.386 others(51): Show c.3867+7619_3867+7620insTTTTATATATATATATATATATATAT ATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62086228	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02451.hp2 HG02615.hp2 HG01192.hp2 HG02451.hp2 HG02615.hp2	a0007 a0017 a0007 a0017	a0007c0042 a0007c0124 a0017c0032 a0007c0042 a0007c0124 a0017c0032	a0007c0042t0005 a0007c0124t0001 a0017c0032t0005 a0007c0042t0005 a0007c0124t0001 a0017c0032t0005	a0007c0042t0005g0136 a0007c0124t0001g0003 a0017c0032t0005g0146 a0007c0042t0005g0136 a0007c0124t0001g0003 a0017c0032t0005g0146	3	158	0.0190	32	c.437 others(51): Show c.4377+1595_4377+1596insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632639	C C	CTATATAT others(25): Show CTATATATCTATATATATATCTATATATATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	276	0.0036	32	c.57 others(43): Show c.5750_*5751insTAGATATATATAGATATATATATAGATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4076		chr11	TogoVar
PATL1_chr11_59631716_59674037	59632736	T T	TATCTATA others(25): Show TATCTATATATCATATATATAGATATATATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	276	0.0036	32	c.56 others(43): Show c.5653_*5654insTAGATATATATCTATATATATGATATATAGAT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3979		chr11	TogoVar
PATL1_chr11_59631716_59674037	59632747	G G	GATATATA others(25): Show GATATATATCTATATATATCTATATATATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA19081.hp1 NA20300.hp1 NA18961.hp2 NA19081.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0001g0020 a0001c0001t0001g0081	3	276	0.0109	32	c.56 others(43): Show c.5642_*5643insAGATATATATATAGATATATATAGATATATAT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3968		chr11	TogoVar
PAWR_chr12_79579879_79695964	79632296	C C	CATATATA others(25): Show CATATATATATATACATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02683.hp2 NA18957.hp2 HG02080.hp1 HG02683.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0031 a0001c0001t0004g0124 a0001c0001t0004g0125	3	256	0.0117	32	c.517 others(51): Show c.517-11090_517-11089insATGTATATATATATATATGTATATAT ATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX3_chr2_222194887_222303998	222265646	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp1 HG02040.hp2 others(11): Show HG00438.hp2 HG02015.hp1 HG02040.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02896.hp1 HG03669.hp2 HG04199.hp1 NA18940.hp2 NA19060.hp2 NA19084.hp1 NA19087.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0007t0002	a0001c0001t0001g0004 a0001c0001t0001g0173 a0001c0001t0001g0226 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0173 a0001c0001t0001g0226 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0187 a0001c0001t0003g0020 a0001c0001t0003g0025 a0001c0001t0003g0062 a0001c0001t0003g0216 a0001c0001t0005g0317 a0001c0007t0002g0017	14	328	0.0427	32	c.586 others(51): Show c.586+28489_586+28520dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265680	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	328	0.0031	32	c.586 others(51): Show c.586+28486_586+28487insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265691	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAGAGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	328	0.0031	32	c.586 others(51): Show c.586+28475_586+28476insTCTCTCTTCCTTCCTTCCTTCCTTCC TTCCTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265691	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01167.hp1 others(12): Show HG00642.hp2 HG01099.hp1 HG01167.hp1 HG02132.hp2 HG03654.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18962.hp1 NA18972.hp1 NA18995.hp2 NA18997.hp1 NA19074.hp2 NA19077.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0174 a0001c0001t0001g0188 others(12): Show a0001c0001t0001g0096 a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0002g0040 a0001c0001t0002g0116 a0001c0001t0002g0130 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0003g0186 a0001c0001t0004g0257 a0001c0002t0001g0066	15	328	0.0457	32	c.586 others(51): Show c.586+28475_586+28476insTCTCTCTCCCTTCCTTCCTTCCTTCC TTCCTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	376	0.0027	32	c.-42 others(43): Show c.-4224_-4193dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3669		chr11	TogoVar
PAX7_chr1_18625846_18753866	18635511	T T	TAGGAAGG others(25): Show TAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG01071.hp2 others(18): Show HG00558.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp2 HG02015.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 NA18993.hp2 NA19010.hp2 NA19065.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0031 a0001c0002t0033 a0001c0006t0016 a0002c0014t0005	a0001c0001t0001g0102 a0001c0001t0002g0117 a0001c0001t0003g0051 others(18): Show a0001c0001t0001g0102 a0001c0001t0002g0117 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0118 a0001c0001t0005g0004 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0115 a0001c0001t0008g0029 a0001c0001t0019g0030 a0001c0002t0002g0100 a0001c0002t0003g0099 a0001c0002t0003g0101 a0001c0002t0005g0027 a0001c0002t0007g0104 a0001c0002t0008g0026 a0001c0002t0031g0028 a0001c0002t0033g0050 a0001c0006t0016g0116 a0002c0014t0005g0025	21	302	0.0695	32	c.451 others(47): Show c.451+288_451+289insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18612.hp2 HG02976.hp1 NA18612.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0002 a0002c0002t0002 a0003c0004t0002	a0002c0002t0002g0095 a0003c0004t0002g0142 a0002c0002t0002g0095 a0003c0004t0002g0142	2	392	0.0051	32	c.595 others(49): Show c.595+4221_595+4222insTATATATATATATATATATATATATATA TATA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PBX3_chr9_125742373_125972377	125793362	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp2 HG02809.hp1 others(1): Show HG01109.hp2 HG02647.hp2 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0289 others(1): Show a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0011g0290	4	294	0.0136	32	c.274 others(51): Show c.274+44740_274+44741insTATATATATATATATATATATATATA TATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	294	0.0034	32	c.274 others(51): Show c.274+44769_274+44770insATATATATATATATATATATATATAT ATATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19582656	A A	AGAACCCC others(25): Show AGAACCCCAGAATATAGAAAGCCCTTTGTCCTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	376	0.0027	32	c.194 others(51): Show c.194-11855_194-11824dupAAGGACAAAGGGCTTTCTATATTCTG GGGTTC	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	2/7			chr19	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(25): Show GTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp1 HG01516.hp2 others(10): Show HG00673.hp1 HG01361.hp1 HG01516.hp2 HG02015.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG03041.hp2 NA18955.hp2 NA19007.hp2 NA19009.hp2 NA19068.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0242 a0001c0001t0002g0249 a0001c0001t0002g0250 others(10): Show a0001c0001t0002g0242 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0270 a0001c0001t0003g0230 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0243 a0001c0001t0007g0244	13	292	0.0445	32	c.-27 others(51): Show c.-278-1776_-278-1775insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45892470	T T	TGGGGGGC others(25): Show TGGGGGGCGCGGTCCCGTCTCTGACGGGGCGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG02572.hp1 others(22): Show HG00438.hp1 HG00639.hp2 HG02572.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG03209.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18946.hp2 NA18969.hp1 NA18983.hp2 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19066.hp2 NA19087.hp2 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018	a0001c0001t0002g0052 a0001c0001t0002g0217 a0001c0001t0002g0223 others(22): Show a0001c0001t0002g0052 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0005g0286 a0001c0001t0007g0244 a0001c0001t0018g0266	25	292	0.0856	32	c.11- others(47): Show c.11-3732_11-3731insCGCGGTCCCGTCTCTGACGGGGCGTGGGGG GG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45892475	G G	GGCGCGGT others(25): Show GGCGCGGTCCCGTCTCTGACGGGGCGTGGGGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00735.hp2 others(98): Show HG00280.hp1 HG00323.hp1 HG00735.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01261.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0023 a0001c0002t0009 a0001c0003t0020 a0001c0004t0002	a0001c0001t0001g0164 a0001c0001t0002g0010 a0001c0001t0002g0011 others(98): Show a0001c0001t0001g0164 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0231 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0008g0113 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0013g0182 a0001c0001t0021g0085 a0001c0001t0023g0111 a0001c0002t0009g0215 a0001c0002t0009g0285 a0001c0003t0020g0222 a0001c0004t0002g0086 a0001c0004t0002g0087	101	292	0.3459	32	c.11- others(47): Show c.11-3732_11-3731insCGCGGTCCCGTCTCTGACGGGGCGTGGGGG CG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03239.hp1 HG04115.hp1 HG00741.hp2 HG03239.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0294 a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0294	3	300	0.0100	32	c.543 others(49): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT ATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18949.hp1 NA18968.hp1 HG02129.hp1 NA18949.hp1 NA18968.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0003 a0002c0004t0009 a0003c0005t0001 a0001c0001t0003 a0002c0004t0009 a0003c0005t0001	a0001c0001t0003g0027 a0002c0004t0009g0040 a0003c0005t0001g0025 a0001c0001t0003g0027 a0002c0004t0009g0040 a0003c0005t0001g0025	3	154	0.0195	32	c.303 others(53): Show c.3033+65795_3033+65796insATATATATATATATATATATATAT ATATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92132651	A A	ACGTATAT others(25): Show ACGTATATATATATGTATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	154	0.0065	32	c.303 others(53): Show c.3034-68724_3034-68723insCGTATATATATATGTATATGTATA TATATATG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92132651	A A	ATGTATAT others(25): Show ATGTATATATATATGTATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02809.hp1 others(4): Show HG02055.hp1 HG02451.hp1 HG02809.hp1 HG03041.hp2 HG03195.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 a0001c0001t0029	a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0085 others(4): Show a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0085 a0001c0001t0002g0154 a0001c0001t0008g0058 a0001c0001t0024g0014 a0001c0001t0029g0024	7	154	0.0455	32	c.303 others(53): Show c.3034-68723_3034-68722insGTATATATATATGTATATGTATAT ATATATGT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147810	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18959.hp1 HG01943.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0002 a0001c0001t0003 a0001c0008t0002	a0001c0001t0003g0093 a0001c0008t0002g0038 a0001c0001t0003g0093 a0001c0008t0002g0038	2	154	0.0130	32	c.303 others(53): Show c.3034-53552_3034-53521dupCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148133	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	154	0.0065	32	c.303 others(53): Show c.3034-53230_3034-53199dupCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148161	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0151 a0001c0001t0014g0151	1	154	0.0065	32	c.303 others(53): Show c.3034-53211_3034-53210insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	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(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	154	0.0065	32	c.303 others(53): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTC	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(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	154	0.0065	32	c.303 others(53): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)