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
PDE6B_chr4_620573_675782	642725	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0262 a0001c0005t0001g0262	1	308	0.0033	31	c.711 others(48): Show c.711+6781_711+6782insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE7B_chr6_135846701_136200574	136148499	A A	AGGCAGGC others(24): Show AGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	142	0.0070	31	c.319 others(46): Show c.319-588_319-587insGGCAGGCAGGCAGGCAGGCAGGCAGGCAGG C	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	4/12			chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18952.hp1 HG00621.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0150 a0001c0001t0005g0145 a0001c0001t0005g0150	2	344	0.0058	31	c.173 others(50): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19088.hp2 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0252 a0001c0001t0006g0243 a0001c0001t0002g0252 a0001c0001t0006g0243	2	314	0.0064	31	c.116 others(50): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	324	0.0031	31	c.263 others(48): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTTTTT TTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFD_chr11_103902189_104169147	104118747	T T	TATATATT others(24): Show TATATATTATATATTATAAATATTAATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	200	0.0050	31	c.124 others(50): Show c.124+45056_124+45057insTATATATTAATATTTATAATATATAA TATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104118753	G G	GTATATAT others(24): Show GTATATATTATAAATATTAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02622.hp1 HG02723.hp1 others(4): Show HG01175.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG03516.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0002t0001 a0001c0002t0012 a0001c0002t0014	a0001c0001t0002g0145 a0001c0001t0002g0183 a0001c0001t0003g0146 others(4): Show a0001c0001t0002g0145 a0001c0001t0002g0183 a0001c0001t0003g0146 a0001c0001t0021g0199 a0001c0002t0001g0144 a0001c0002t0012g0189 a0001c0002t0014g0198	7	200	0.0350	31	c.124 others(50): Show c.124+45020_124+45050dupATATATTATATATTAATATTTATAAT ATATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104118753	G G	GTATATAT others(24): Show GTATATATTATAAATATTAATATATAATGTAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0142 a0001c0001t0002g0143	2	200	0.0100	31	c.124 others(50): Show c.124+45050_124+45051insATACATTATATATTAATATTTATAAT ATATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	400	0.0025	31	c.-17 others(40): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02027.hp2 others(11): Show HG00741.hp1 HG01891.hp2 HG02027.hp2 HG02074.hp1 HG02273.hp1 NA18951.hp1 NA18955.hp2 NA18963.hp2 NA18967.hp1 NA18983.hp1 NA18995.hp2 NA19077.hp1 NA19077.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0211 others(11): Show a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0211 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0382 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0207 a0001c0002t0001g0212 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0391	14	400	0.0350	31	c.353 others(46): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(24): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03831.hp1 HG03453.hp1 HG03831.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0027 a0004c0005t0001g0241 a0001c0001t0001g0027 a0004c0005t0001g0241	2	400	0.0050	31	c.940 others(46): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCCCCCCGC C	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA6_chr2_10778391_10817785	10797629	G G	GAATATGG others(24): Show GAATATGGACATCTTAGAAACTTACTGTAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	342	0.0029	31	c.219 others(44): Show c.219+40_219+70dupTTTTACAGTAAGTTTCTAAGATGTCCATATT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	3/12			chr2	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0243 a0002c0003t0003g0243	1	338	0.0030	31	c.533 others(48): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95256998	G G	GAAAAGAA others(24): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03516.hp2 HG03942.hp1 others(7): Show HG00639.hp2 HG03516.hp2 HG03942.hp1 HG04115.hp2 NA18949.hp2 NA18971.hp2 NA18982.hp2 NA19054.hp1 NA19065.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0047 a0001c0002t0002g0210 others(7): Show a0001c0002t0002g0016 a0001c0002t0002g0047 a0001c0002t0002g0210 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0284 a0001c0002t0002g0290 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320	10	338	0.0296	31	c.533 others(48): Show c.533+6865_533+6866insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDS5B_chr13_32581452_32783019	32635170	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0176 a0001c0001t0009g0176	1	334	0.0030	31	c.-19 others(50): Show c.-19-13569_-19-13539dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	334	0.0030	31	c.313 others(48): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	334	0.0030	31	c.313 others(48): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT TTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	334	0.0030	31	c.313 others(48): Show c.313-2864_313-2863insATATATATATATATATATATATTTTTTT TTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19043.hp1 HG02056.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0002g0119 a0001c0001t0001g0111 a0001c0001t0002g0119	2	334	0.0060	31	c.313 others(48): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	416	0.0024	31	c.163 others(46): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG01891.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0163 a0001c0001t0003g0102 a0001c0001t0001g0163 a0001c0001t0003g0102	2	260	0.0077	31	c.104 others(52): Show c.1042-18796_1042-18795insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	260	0.0039	31	c.296 others(50): Show c.296+29088_296+29089insATATATATATATATATATATATTTTT TTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	260	0.0039	31	c.296 others(50): Show c.296+29088_296+29089insATATATATATATATATATATATATAT ATTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0031 a0031	a0031c0030 a0031c0030	a0031c0030t0033 a0031c0030t0033	a0031c0030t0033g0064 a0031c0030t0033g0064	1	216	0.0046	31	c.476 others(50): Show c.476+78855_476+78856insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	216	0.0046	31	c.140 others(52): Show c.1408-11612_1408-11611insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017838	G G	GGAAAGAA others(24): Show GGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0304 a0001c0001t0005g0304	1	432	0.0023	31	c.152 others(48): Show c.1522+260_1522+261insTTTCTTTCTTTCTTTCTTTCTTTCTTCT TTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017858	A A	AGAAAGAA others(24): Show AGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0161 a0002c0002t0005g0161	1	432	0.0023	31	c.152 others(48): Show c.1522+240_1522+241insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017892	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02135.hp1 HG02723.hp1 others(3): Show HG00323.hp2 HG02135.hp1 HG02723.hp1 HG03516.hp2 NA18982.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0017	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007 a0007c0039 a0017c0029	a0001c0001t0003 a0002c0002t0004 a0003c0003t0004 others(3): Show a0001c0001t0003 a0002c0002t0004 a0003c0003t0004 a0007c0007t0001 a0007c0039t0004 a0017c0029t0002	a0001c0001t0003g0237 a0002c0002t0004g0145 a0003c0003t0004g0224 others(3): Show a0001c0001t0003g0237 a0002c0002t0004g0145 a0003c0003t0004g0224 a0007c0007t0001g0179 a0007c0039t0004g0256 a0017c0029t0002g0240	6	432	0.0139	31	c.152 others(48): Show c.1522+206_1522+207insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41402544	C C	CATATATA others(24): Show CATATATATATATATACTGAGTATATACATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0067 a0004c0003t0001g0067	1	206	0.0049	31	c.844 others(52): Show c.844-103886_844-103885insCATATATATATATATATATACTGA GTATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PELI3_chr11_66461905_66482337	66462481	A A	AAGCAGGT others(24): Show AAGCAGGTGGGATCCAGCTAATTCGATCTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	396	0.0025	31	c.-45 others(42): Show c.-4548_-4547insAGCAGGTGGGATCCAGCTAATTCGATCTGAG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4423		chr11	TogoVar
PER1_chr17_8135472_8157404	8141688	T T	TCCCTTGA others(24): Show TCCCTTGAACTTGAGCTCAATTCTTTTTCTCC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19078.hp2 NA19075.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0108 a0001c0001t0001g0112	2	426	0.0047	31	c.360 others(48): Show c.3600+116_3600+117insGGAGAAAAAGAATTGAGCTCAAGTTCAA GGG	PER1	ENSG00000179094.16	transcript	ENST00000317276.9	protein_coding	22/22			chr17	TogoVar
PER1_chr17_8135472_8157404	8141743	T T	TTTTTTCT others(24): Show TTTTTTCTCCCCCTTGAACTTGAGCTCAATTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(79): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18946.hp2 NA18950.hp2 NA18969.hp2 NA18972.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19070.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0012 a0015	a0001c0001 a0001c0004 a0001c0008 others(8): Show a0001c0001 a0001c0004 a0001c0008 a0001c0014 a0001c0023 a0001c0030 a0002c0007 a0004c0012 a0007c0017 a0012c0024 a0015c0029	a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 a0001c0008t0004 a0001c0014t0001 a0001c0023t0001 a0001c0030t0001 a0002c0007t0001 a0004c0012t0001 a0007c0017t0001 a0012c0024t0001 a0015c0029t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0034 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0004t0001g0017 a0001c0004t0001g0030 a0001c0004t0001g0066 a0001c0004t0001g0129 a0001c0004t0001g0131 a0001c0008t0001g0031 a0001c0008t0001g0093 a0001c0008t0004g0094 a0001c0014t0001g0026 a0001c0023t0001g0110 a0001c0030t0001g0116 a0002c0007t0001g0043 a0004c0012t0001g0036 a0007c0017t0001g0120 a0012c0024t0001g0114 a0015c0029t0001g0124	82	426	0.1925	31	c.360 others(46): Show c.3600+31_3600+61dupGAATTGAGCTCAAGTTCAAGGGGGAGAAAA A	PER1	ENSG00000179094.16	transcript	ENST00000317276.9	protein_coding	22/22			chr17	TogoVar
PERM1_chr1_970198_987093	972766	A A	AAAAAGAT others(24): Show AAAAAGATAAAAGGGGGGACAGCACGGTGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0147 a0001c0001t0010g0147	1	408	0.0025	31	c.33 others(42): Show c.3375_*3405dupACCCACCGTGCTGTCCCCCCTTTTATCTTTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2431		chr1	TogoVar
PERM1_chr1_970198_987093	976715	C C	CCAACCCC others(24): Show CCAACCCCAGGAACCGCCTCCCACTCCCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01255.hp2 others(4): Show HG00438.hp2 HG01070.hp2 HG01255.hp2 HG02027.hp1 HG02486.hp1 HG03927.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0144 a0001c0001t0001g0266	7	408	0.0172	31	c.215 others(46): Show c.2150-92_2150-91insTGGGGGGAGTGGGAGGCGGTTCCTGGGGTT G	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976938	G G	GCAACCCC others(24): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0226 a0002c0005t0005g0226	1	408	0.0025	31	c.215 others(48): Show c.2150-315_2150-314insTGGGGGGAGCGGGAGGCGGTTCCCGGGG TTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977080	G G	GCCTCCCA others(24): Show GCCTCCCACTCCCCCCGCAACCCCGGGAACCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp1 HG01258.hp2 others(20): Show HG00438.hp1 HG01099.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02738.hp2 HG03239.hp2 HG03486.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp2 NA18944.hp1 NA18999.hp1 NA19004.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0019 others(7): Show a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0019 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0243 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0253 a0002c0002t0002g0255	23	408	0.0564	31	c.215 others(48): Show c.2150-457_2150-456insTGGTTCCCGGGGTTGCGGGGGGAGTGGG AGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977508	C C	CCAACCCC others(24): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG02897.hp2 HG02145.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0047 a0002c0011t0002g0238 a0002c0011t0002g0047 a0002c0011t0002g0238	3	408	0.0074	31	c.215 others(48): Show c.2150-885_2150-884insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977508	C C	GCAACCCC others(24): Show GCAACCCCGGGAACCGCCTCCCACCACCCCGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0086 a0017c0029t0001g0086	1	408	0.0025	31	c.215 others(48): Show c.2150-884_2150-883insCGGGGTGGTGGGAGGCGGTTCCCGGGGT TGC	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977555	G G	GCCTCCCA others(24): Show GCCTCCCACTCCCCGCGCAACCCCGGGAACCA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	408	0.0025	31	c.215 others(48): Show c.2150-932_2150-931insTGGTTCCCGGGGTTGCGCGGGGAGTGGG AGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977572	C C	CCAACCCC others(24): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02922.hp2 others(5): Show HG02809.hp1 HG02895.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03942.hp1 HG06807.hp2 NA20129.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0002c0002 a0002c0009 others(1): Show a0001c0001 a0002c0002 a0002c0009 a0022c0027	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 a0022c0027t0002	a0001c0001t0001g0158 a0002c0002t0001g0057 a0002c0002t0002g0013 others(4): Show a0001c0001t0001g0158 a0002c0002t0001g0057 a0002c0002t0002g0013 a0002c0002t0002g0056 a0002c0002t0002g0245 a0002c0009t0002g0263 a0022c0027t0002g0058	8	408	0.0196	31	c.215 others(48): Show c.2150-949_2150-948insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977989	T T	TCCCCCCA others(24): Show TCCCCCCAACCCCAGGAACCGCCTCCCAACCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0002 a0020c0023t0002	a0020c0023t0002g0052 a0020c0023t0002g0052	1	408	0.0025	31	c.214 others(48): Show c.2149+861_2149+891dupGGGTTGGGAGGCGGTTCCTGGGGTTGGG GGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA20129.hp1 HG00558.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0004 a0001c0001t0037g0047 a0001c0001t0004g0004 a0001c0001t0037g0047	2	430	0.0047	31	c.57 others(42): Show c.5727_*5728insATATATATATATATATATATATATATATATA	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0061 a0001c0001t0015g0061	1	220	0.0046	31	c.21+ others(48): Show c.21+12231_21+12232insATATATATATATATATATATATATATAT ATA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7209585	C C	CTGGAGTA others(24): Show CTGGAGTAATGTGCAGAGTTGAGCTGAGTCGG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0052 a0001c0001t0018g0052	1	428	0.0023	31	c.156 others(46): Show c.1561-79_1561-78insGAGCTGAGTCGGTGGAGTAATGTGCAGAGT T	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX7_chr6_136817592_136918934	136893202	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	330	0.0061	31	c.804 others(48): Show c.804-4933_804-4932insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PEX7	ENSG00000112357.14	transcript	ENST00000318471.5	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PFKL_chr21_44295053_44332373	44330595	A A	AGGCTGAA others(24): Show AGGCTGAAGGGGGTCCGCGCGAGTGCAGCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	392	0.0026	31	c.37 others(42): Show c.3733_*3734insGGCTGAAGGGGGTCCGCGCGAGTGCAGCGTG	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding		3223		chr21	TogoVar
PFKP_chr10_3062548_3141802	3098672	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0003 a0001c0056t0003	a0001c0056t0003g0331 a0001c0056t0003g0331	1	402	0.0025	31	c.187 others(46): Show c.187-585_187-584insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106814	T T	TCTCCTCG others(24): Show TCTCCTCGCCCCTGCCCCTTCACCCCTGCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	402	0.0025	31	c.775 others(46): Show c.775-399_775-369dupCTCCTCGCCCCTGCCCCTTCACCCCTGCCC C	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(24): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01346.hp2 others(6): Show HG00140.hp2 HG00733.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01993.hp2 HG02717.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0009 a0001c0001t0041 others(3): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0041 a0002c0003t0007 a0002c0003t0020 a0002c0003t0021	a0001c0001t0007g0162 a0001c0001t0009g0054 a0001c0001t0041g0119 others(4): Show a0001c0001t0007g0162 a0001c0001t0009g0054 a0001c0001t0041g0119 a0002c0003t0007g0025 a0002c0003t0007g0163 a0002c0003t0020g0161 a0002c0003t0021g0164	9	394	0.0228	31	c.719 others(46): Show c.719+486_719+516dupTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG G	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132723321	A A	ATACCAGG others(24): Show ATACCAGGCACGCTCACGTTTGACCTCAGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	31	c.24 others(42): Show c.2493_*2494insTACCAGGCACGCTCACGTTTGACCTCAGACG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		588		chr12	TogoVar

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Search Results (Total: 5228 hits)