Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDZD2_chr5_31634131_32115932	31837016	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0035 a0035	a0035c0061 a0035c0061	a0035c0061t0016 a0035c0061t0016	a0035c0061t0016g0077 a0035c0061t0016g0077	1	55	0.0182	32	c.476 others(51): Show c.476+37300_476+37331dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD4_chrX_153797166_153835544	153830174	C C	CGCGGGAT others(25): Show CGCGGGATGGAGGTTGCATAGCAACGAGCGCAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0187 a0003c0004t0001g0187	1	279	0.0036	32	c.60+ others(43): Show c.60+64_60+65insCTGCGCTCGTTGCTATGCAACCTCCATCCCGC	PDZD4	ENSG00000067840.13	transcript	ENST00000393758.7	protein_coding	1/7			chrX	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	175	0.0057	32	c.918 others(51): Show c.918+39340_918+39341insAAAATATATATATATATATATATATA TATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41241429	T T	TAAAAATC others(25): Show TAAAAATCAATCCTTAAGCGAAAGAGCGTGGGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG03130.hp1 others(5): Show HG02486.hp1 HG02922.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0017 a0002c0027 a0002c0030 others(3): Show a0002c0017 a0002c0027 a0002c0030 a0005c0029 a0008c0025 a0008c0026	a0002c0017t0001 a0002c0017t0002 a0002c0027t0001 others(4): Show a0002c0017t0001 a0002c0017t0002 a0002c0027t0001 a0002c0030t0001 a0005c0029t0001 a0008c0025t0001 a0008c0026t0001	a0002c0017t0001g0092 a0002c0017t0002g0019 a0002c0017t0002g0091 others(5): Show a0002c0017t0001g0092 a0002c0017t0002g0019 a0002c0017t0002g0091 a0002c0027t0001g0149 a0002c0030t0001g0090 a0005c0029t0001g0088 a0008c0025t0001g0148 a0008c0026t0001g0147	8	206	0.0388	32	c.843 others(51): Show c.843+47242_843+47273dupAAAAATCAATCCTTAAGCGAAAGAGC GTGGGC	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(25): Show GTATACATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG01258.hp1 others(3): Show HG01109.hp2 HG01256.hp1 HG01258.hp1 HG02071.hp2 HG02280.hp1 NA19007.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0005 a0003c0006 others(1): Show a0001c0004 a0003c0005 a0003c0006 a0004c0003	a0001c0004t0001 a0003c0005t0001 a0003c0006t0001 others(1): Show a0001c0004t0001 a0003c0005t0001 a0003c0006t0001 a0004c0003t0001	a0001c0004t0001g0077 a0001c0004t0001g0078 a0003c0005t0001g0074 others(3): Show a0001c0004t0001g0077 a0001c0004t0001g0078 a0003c0005t0001g0074 a0003c0006t0001g0079 a0003c0006t0001g0098 a0004c0003t0001g0003	6	41	0.1463	32	c.843 others(53): Show c.843+122864_843+122865insCATACATATATATATATATATATA TATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(25): Show GTATACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0082 a0004c0003t0001g0082	1	36	0.0278	32	c.843 others(53): Show c.843+122864_843+122865insCATATATATATATATATATATATA TATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77313704	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTATGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0312 a0001c0001t0014g0312	1	318	0.0031	32	c.-60 others(53): Show c.-602-27201_-602-27200insCACACATACATATATATATATATA TATATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118133225	T T	TCATTTCA others(25): Show TCATTTCATTTCATTTCATTTCATTTCATTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0002 a0001c0001t0016g0002	1	408	0.0025	32	c.-29 others(43): Show c.-2985_-2984insCATTTCATTTCATTTCATTTCATTTCATTTCA	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2898		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22728559	T T	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0189 a0004c0010t0004g0189	1	83	0.0120	32	c.358 others(49): Show c.358-1371_358-1340dupGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22728559	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0005 a0005c0032t0005	a0005c0032t0005g0031 a0005c0032t0005g0031	1	83	0.0120	32	c.358 others(49): Show c.358-1340_358-1339insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64377617	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp2 HG01346.hp1 others(10): Show HG00738.hp1 HG01256.hp2 HG01346.hp1 HG02257.hp2 HG02451.hp1 HG02523.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03490.hp1 NA18993.hp1 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0007 a0001c0001 a0003c0005 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0003c0005t0004 others(1): Show a0001c0001t0001 a0001c0001t0005 a0003c0005t0004 a0003c0007t0002	a0001c0001t0001g0165 a0001c0001t0001g0226 a0001c0001t0001g0227 others(9): Show a0001c0001t0001g0165 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0272 a0001c0001t0005g0230 a0001c0001t0005g0231 a0003c0005t0004g0004 a0003c0007t0002g0136	13	155	0.0839	32	c.385 others(47): Show c.385+206_385+207insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	3/15			chr17	TogoVar
PEPD_chr19_33381950_33526791	33422818	A A	ATATCTAT others(25): Show ATATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0240 a0001c0003t0001g0240	1	134	0.0075	32	c.672 others(49): Show c.672-9176_672-9175insGATAGATAGATAGATAGATAGATAGATA GATA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33485491	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	195	0.0051	32	c.503 others(49): Show c.503+4504_503+4505insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	6/14			chr19	TogoVar
PER1_chr17_8135472_8157404	8141688	T T	TCCCTTGA others(25): Show TCCCTTGAACTTGAGCTCAATTCTTTTTTCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0136 a0001c0005t0001g0136	1	223	0.0045	32	c.360 others(48): Show c.3600+85_3600+116dupGGAGAAAAAAGAATTGAGCTCAAGTTCAA GGG	PER1	ENSG00000179094.16	transcript	ENST00000317276.9	protein_coding	22/22			chr17	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	39	0.0256	32	c.152 others(51): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	974418	A A	ACACATCT others(25): Show ACACATCTCTGCCTTCCCTACCAGATGGTCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	406	0.0025	32	c.17 others(43): Show c.1722_*1753dupACCGACCATCTGGTAGGGAAGGCAGAGATGTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		779		chr1	TogoVar
PERM1_chr1_970198_987093	976708	A A	ACCCCCAC others(25): Show ACCCCCACCAACCCCAGGAACCGCCTCCCACTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0006 a0002c0005t0004 a0002c0005t0006	a0002c0005t0004g0186 a0002c0005t0006g0159 a0002c0005t0004g0186 a0002c0005t0006g0159	2	400	0.0050	32	c.215 others(47): Show c.2150-85_2150-84insGAGTGGGAGGCGGTTCCTGGGGTTGGTGGG GG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976714	A A	ACCAACCC others(25): Show ACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0183 a0005c0006t0003g0183	1	403	0.0025	32	c.215 others(48): Show c.2150-122_2150-91dupCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976938	G G	GCCAACCC others(25): Show GCCAACCCCGGGAACCGCCTCCCACTCCCCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01433.hp1 HG00733.hp1 HG01433.hp1	a0005 a0011 a0005 a0011	a0005c0006 a0011c0029 a0005c0006 a0011c0029	a0005c0006t0004 a0011c0029t0001 a0005c0006t0004 a0011c0029t0001	a0005c0006t0004g0007 a0011c0029t0001g0079 a0005c0006t0004g0007 a0011c0029t0001g0079	2	67	0.0299	32	c.215 others(49): Show c.2150-315_2150-314insTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977001	G G	GCAACCCC others(25): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 NA19000.hp1 HG00323.hp2 HG00621.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0145	3	378	0.0079	32	c.215 others(49): Show c.2150-378_2150-377insGTGGGGGGAGTGGGAGGCGGTTCCCGGG GTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977084	C C	CCCACTCC others(25): Show CCCACTCCCCCCGCAACCCCGGGAACCACCTCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0198 a0002c0002t0002g0198	1	406	0.0025	32	c.215 others(49): Show c.2150-461_2150-460insAGAGGTGGTTCCCGGGGTTGCGGGGGGA GTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977096	G G	GCAACCCC others(25): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02630.hp2 others(4): Show HG01891.hp1 HG02258.hp1 HG02630.hp2 HG02647.hp1 HG02970.hp2 HG06807.hp1 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0005c0006 a0002c0005 a0005c0006	a0002c0005t0004 a0005c0006t0004 a0002c0005t0004 a0005c0006t0004	a0002c0005t0004g0050 a0005c0006t0004g0007 a0005c0006t0004g0049 a0002c0005t0004g0050 a0005c0006t0004g0007 a0005c0006t0004g0049	7	325	0.0215	32	c.215 others(49): Show c.2150-504_2150-473dupGTGGGGGGAGCGGGAGGCGGTTCCCGGG GTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977247	C C	CTCCCCCC others(25): Show CTCCCCCCACCAACCCGGGAACCGCCTCCCACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01106.hp2 others(5): Show HG00099.hp1 HG00621.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG02257.hp2 NA18948.hp2 NA19000.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0008 a0001c0001 a0001c0007 a0006c0008	a0001c0001t0001 a0001c0001t0014 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0007t0001 a0006c0008t0001	a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0014g0179 a0001c0007t0001g0022 a0006c0008t0001g0075	8	237	0.0338	32	c.215 others(49): Show c.2150-624_2150-623insAGTGGGAGGCGGTTCCCGGGTTGGTGGG GGGA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977247	C C	CTCCCCCC others(25): Show CTCCCCCCGCAACCCCGGGAACCGCCTCCCACT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG03041.hp2 others(1): Show HG02109.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0002 a0002c0009t0002 a0002c0002t0002 a0002c0009t0002	a0002c0002t0002g0030 a0002c0009t0002g0210 a0002c0002t0002g0030 a0002c0009t0002g0210	4	233	0.0172	32	c.215 others(49): Show c.2150-624_2150-623insAGTGGGAGGCGGTTCCCGGGGTTGCGGG GGGA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977316	G G	GCAACCCC others(25): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02280.hp1 others(4): Show HG01891.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02647.hp1 HG03041.hp1 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0006 a0002c0005 a0005c0006	a0002c0005t0004 a0005c0006t0003 a0005c0006t0004 a0002c0005t0004 a0005c0006t0003 a0005c0006t0004	a0002c0005t0004g0027 a0002c0005t0004g0185 a0005c0006t0003g0183 others(1): Show a0002c0005t0004g0027 a0002c0005t0004g0185 a0005c0006t0003g0183 a0005c0006t0004g0049	7	329	0.0213	32	c.215 others(49): Show c.2150-724_2150-693dupGTGGGGGGAGCGGGAGGCGGTTCCCGGG GTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977604	C C	GCAACCCC others(25): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	392	0.0026	32	c.215 others(49): Show c.2150-980_2150-979insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGC	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977677	G G	GGAACCGC others(25): Show GGAACCGCCTCCCACTCCCCCCACCAACCCCGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18957.hp2 NA19005.hp1 HG02559.hp1 NA18957.hp2 NA19005.hp1	a0002 a0005 a0019 a0002 a0005 a0019	a0002c0002 a0005c0006 a0019c0024 a0002c0002 a0005c0006 a0019c0024	a0002c0002t0002 a0005c0006t0004 a0019c0024t0002 a0002c0002t0002 a0005c0006t0004 a0019c0024t0002	a0002c0002t0002g0204 a0005c0006t0004g0007 a0019c0024t0002g0196 a0002c0002t0002g0204 a0005c0006t0004g0007 a0019c0024t0002g0196	3	331	0.0091	32	c.215 others(51): Show c.2150-1054_2150-1053insTCGGGGTTGGTGGGGGGAGTGGGAGG CGGTTC	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977844	C C	CCCACCAA others(25): Show CCCACCAACCCCGGGAACCGCCTGCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0078 a0006c0008t0001g0078	1	361	0.0028	32	c.214 others(51): Show c.2149+1036_2149+1037insTGGCGGGGGCAGGCGGTTCCCGGGGT TGGTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG01433.hp1 others(7): Show HG00323.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG03540.hp2 NA18939.hp2 NA18968.hp1 NA18988.hp1 NA19068.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0009 a0001c0001t0018 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0018 a0001c0001t0032 a0001c0001t0082 a0002c0002t0011 a0002c0002t0017	a0001c0001t0004g0010 a0001c0001t0004g0223 a0001c0001t0009g0012 others(6): Show a0001c0001t0004g0010 a0001c0001t0004g0223 a0001c0001t0009g0012 a0001c0001t0018g0018 a0001c0001t0032g0090 a0001c0001t0032g0210 a0001c0001t0082g0189 a0002c0002t0011g0009 a0002c0002t0017g0054	10	205	0.0488	32	c.57 others(43): Show c.5727_*5728insATATATATATATATATATATATATATATATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PET100_chr19_7624793_7636956	7627395	C C	CGGAGGGC others(25): Show CGGAGGGCTGCGGTCGAGGGTGGGCGGGGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	32	c.-24 others(43): Show c.-2439_-2438insGGAGGGCTGCGGTCGAGGGTGGGCGGGGTGTG	PET100	ENSG00000229833.11	transcript	ENST00000594797.6	protein_coding		2397		chr19	TogoVar
PEX11G_chr19_7471875_7494035	7474754	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	220	0.0045	32	c.24 others(43): Show c.2447_*2448insACACACACACACACACACACACACACACACAC	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		2120		chr19	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18941.hp1 NA18959.hp2 HG02723.hp1 NA18941.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0001g0118 a0001c0001t0002g0080 a0001c0001t0002g0089	3	114	0.0263	32	c.21+ others(49): Show c.21+12231_21+12232insATATATATATATATATATATATATATAT ATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024373	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	201	0.0050	32	c.21+ others(49): Show c.21+12205_21+12206insGTGTGTATATATATATATATATATATAT ATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024373	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03834.hp1 HG02735.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0079 a0001c0001t0001g0098	2	202	0.0099	32	c.21+ others(49): Show c.21+12205_21+12206insGTATATATATATATATATATATATATAT ATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7203229	C C	CACTAACT others(25): Show CACTAACTAAACACACAACACTAAACACTACAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02630.hp1 others(6): Show HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0157 a0001c0001t0008g0006 a0001c0001t0008g0214 others(1): Show a0001c0001t0001g0157 a0001c0001t0008g0006 a0001c0001t0008g0214 a0001c0001t0008g0215	9	160	0.0563	32	c.847 others(47): Show c.847-202_847-201insCTAACTAAACACACAACACTAAACACTACA GA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7209608	G G	GCTGAGTC others(25): Show GCTGAGTCGGTGGAGTAATGTGCAGAGTTTGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(413): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0002c0002 a0003c0004 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0003t0004 a0001c0005t0001 a0001c0005t0012 a0001c0009t0001 a0001c0010t0002 a0001c0011t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0014 a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 a0004c0006t0002 a0005c0008t0002	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(300): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0276 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0201 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0270 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0006g0002 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0007g0029 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0007g0200 a0001c0001t0008g0006 a0001c0001t0008g0214 a0001c0001t0008g0215 a0001c0001t0010g0222 a0001c0001t0010g0268 a0001c0001t0010g0269 a0001c0001t0011g0027 a0001c0001t0013g0187 a0001c0001t0015g0219 a0001c0001t0016g0001 a0001c0001t0019g0171 a0001c0003t0004g0043 a0001c0003t0004g0266 a0001c0003t0004g0271 a0001c0005t0001g0011 a0001c0005t0012g0267 a0001c0009t0001g0097 a0001c0010t0002g0015 a0001c0011t0002g0001 a0002c0002t0001g0159 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0004g0298 a0002c0002t0005g0022 a0002c0002t0005g0044 a0002c0002t0005g0282 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0005g0287 a0002c0002t0005g0288 a0002c0002t0005g0289 a0002c0002t0005g0290 a0002c0002t0005g0291 a0002c0002t0005g0292 a0002c0002t0005g0293 a0002c0002t0005g0294 a0002c0002t0005g0295 a0002c0002t0005g0296 a0002c0002t0007g0297 a0002c0002t0009g0303 a0002c0002t0009g0304 a0002c0002t0009g0305 a0002c0002t0014g0302 a0003c0004t0001g0158 a0003c0004t0003g0281 a0003c0004t0005g0286 a0004c0006t0002g0300 a0004c0006t0002g0301 a0005c0008t0002g0231	416	424	0.9811	32	c.156 others(47): Show c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTT GA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB2_chr1_207048275_207082817	207061121	A A	ATATATAT others(25): Show ATATATATCTTTATATATCTTTATATATATCTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02258.hp2 HG01167.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0149 a0001c0002t0007g0150 a0001c0002t0007g0149 a0001c0002t0007g0150	2	320	0.0063	32	c.86- others(45): Show c.86-815_86-814insCTTTATATATATCTTTATATATCTTTATATAT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB2_chr1_207048275_207082817	207061129	C C	CTATATAT others(25): Show CTATATATATCTTTATATATATCTTTATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0181 a0001c0003t0027g0181	1	258	0.0039	32	c.86- others(45): Show c.86-823_86-822insATATATATCTTTATATATATCTTTATATATAT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB2_chr1_207048275_207082817	207076629	A A	ACTGACTG others(25): Show ACTGACTGACAGACAGACTTTAGTGTCTGCGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0093 a0001c0001t0020g0093	1	183	0.0055	32	c.42 others(43): Show c.4286_*4287insCGTGCTGACTGACAGACAGACTTTAGTGTCTG	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	15/15	4287	INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB2_chr1_207048275_207082817	207076629	A A	ACTGACTG others(25): Show ACTGACTGACAGACAGACTTTAGTGTCTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19064.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0003t0034 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0197 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0084 a0001c0001t0004g0095 a0001c0001t0004g0108 a0001c0001t0004g0117 a0001c0001t0004g0122 a0001c0001t0004g0141 a0001c0001t0010g0050 a0001c0001t0010g0052 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0011g0001 a0001c0001t0011g0010 a0001c0001t0011g0211 a0001c0001t0012g0041 a0001c0001t0012g0090 a0001c0001t0012g0164 a0001c0001t0023g0091 a0001c0001t0030g0118 a0001c0001t0031g0165 a0001c0001t0032g0137 a0001c0001t0033g0031 a0001c0001t0035g0120 a0001c0002t0005g0038 a0001c0002t0005g0049 a0001c0002t0005g0051 a0001c0002t0005g0147 a0001c0002t0005g0148 a0001c0002t0005g0209 a0001c0002t0007g0039 a0001c0002t0007g0092 a0001c0002t0007g0149 a0001c0002t0007g0150 a0001c0002t0007g0151 a0001c0002t0014g0037 a0001c0003t0034g0186 a0003c0007t0001g0188	157	339	0.4631	32	c.42 others(43): Show c.4272_*4303dupAGACTTTAGTGTCTGTGTGCTGACTGACAGAC	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	15/15	4304	INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKP_chr10_3062548_3141802	3062574	C C	CTCACTCA others(25): Show CTCACTCACTCATTCACTCACTCATTCACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(46): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0027 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0039 a0001c0043 a0001c0044 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0052 a0001c0053 a0001c0055 a0001c0058 a0001c0059 a0001c0060 a0001c0064 a0001c0065 a0002c0013 a0003c0030 a0004c0051 a0005c0063 a0007c0042	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(84): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0003t0001 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0004t0008 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0006 a0001c0005t0007 a0001c0005t0009 a0001c0006t0001 a0001c0006t0007 a0001c0006t0011 a0001c0006t0014 a0001c0006t0020 a0001c0007t0005 a0001c0007t0019 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0009t0007 a0001c0009t0012 a0001c0010t0001 a0001c0011t0003 a0001c0011t0004 a0001c0011t0006 a0001c0012t0002 a0001c0012t0003 a0001c0012t0004 a0001c0014t0006 a0001c0015t0001 a0001c0015t0014 a0001c0016t0001 a0001c0016t0007 a0001c0017t0010 a0001c0018t0005 a0001c0019t0003 a0001c0019t0004 a0001c0020t0014 a0001c0021t0002 a0001c0021t0009 a0001c0021t0015 a0001c0023t0013 a0001c0027t0005 a0001c0028t0007 a0001c0031t0001 a0001c0032t0004 a0001c0033t0003 a0001c0034t0005 a0001c0036t0010 a0001c0037t0002 a0001c0039t0005 a0001c0043t0002 a0001c0044t0001 a0001c0046t0003 a0001c0047t0018 a0001c0049t0005 a0001c0050t0005 a0001c0052t0006 a0001c0053t0001 a0001c0055t0005 a0001c0058t0009 a0001c0059t0004 a0001c0060t0003 a0001c0064t0002 a0001c0065t0001 a0002c0013t0004 a0003c0030t0003 a0004c0051t0004 a0005c0063t0005 a0007c0042t0002	a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0037 others(258): Show a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0192 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0224 a0001c0001t0002g0250 a0001c0001t0002g0362 a0001c0001t0002g0384 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0035 a0001c0001t0003g0057 a0001c0001t0003g0083 a0001c0001t0003g0134 a0001c0001t0003g0231 a0001c0001t0003g0379 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0383 a0001c0001t0003g0391 a0001c0001t0003g0393 a0001c0001t0004g0046 a0001c0001t0004g0368 a0001c0001t0004g0382 a0001c0001t0006g0025 a0001c0001t0006g0090 a0001c0001t0006g0128 a0001c0001t0006g0130 a0001c0001t0006g0222 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0002t0002g0030 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0051 a0001c0002t0002g0060 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0095 a0001c0002t0002g0102 a0001c0002t0002g0105 a0001c0002t0002g0114 a0001c0002t0002g0132 a0001c0002t0002g0136 a0001c0002t0002g0142 a0001c0002t0002g0150 a0001c0002t0002g0154 a0001c0002t0002g0182 a0001c0002t0002g0186 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0211 a0001c0002t0002g0247 a0001c0002t0002g0288 a0001c0002t0002g0373 a0001c0002t0002g0376 a0001c0002t0002g0377 a0001c0002t0003g0078 a0001c0002t0003g0109 a0001c0002t0003g0144 a0001c0002t0003g0156 a0001c0002t0004g0026 a0001c0002t0004g0103 a0001c0002t0004g0133 a0001c0002t0004g0184 a0001c0002t0004g0196 a0001c0002t0006g0131 a0001c0002t0006g0190 a0001c0002t0006g0221 a0001c0002t0006g0226 a0001c0002t0009g0024 a0001c0003t0001g0010 a0001c0003t0001g0022 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0068 a0001c0003t0001g0086 a0001c0003t0001g0089 a0001c0003t0001g0093 a0001c0003t0001g0098 a0001c0003t0001g0107 a0001c0003t0001g0116 a0001c0003t0001g0119 a0001c0003t0001g0122 a0001c0003t0001g0124 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0183 a0001c0003t0001g0191 a0001c0003t0001g0203 a0001c0003t0001g0206 a0001c0003t0001g0208 a0001c0003t0001g0256 a0001c0003t0001g0276 a0001c0003t0001g0364 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0375 a0001c0003t0007g0104 a0001c0003t0007g0151 a0001c0003t0007g0158 a0001c0003t0011g0053 a0001c0003t0012g0021 a0001c0003t0012g0227 a0001c0004t0002g0002 a0001c0004t0002g0141 a0001c0004t0002g0155 a0001c0004t0003g0071 a0001c0004t0003g0072 a0001c0004t0003g0074 a0001c0004t0003g0091 a0001c0004t0003g0110 a0001c0004t0004g0235 a0001c0004t0006g0050 a0001c0004t0006g0065 a0001c0004t0007g0079 a0001c0004t0007g0397 a0001c0004t0007g0398 a0001c0004t0008g0088 a0001c0004t0008g0100 a0001c0005t0002g0179 a0001c0005t0003g0118 a0001c0005t0004g0014 a0001c0005t0004g0219 a0001c0005t0006g0047 a0001c0005t0006g0216 a0001c0005t0007g0033 a0001c0005t0009g0193 a0001c0006t0001g0009 a0001c0006t0001g0036 a0001c0006t0001g0049 a0001c0006t0001g0066 a0001c0006t0001g0096 a0001c0006t0001g0108 a0001c0006t0001g0117 a0001c0006t0001g0123 a0001c0006t0001g0198 a0001c0006t0001g0204 a0001c0006t0001g0217 a0001c0006t0001g0339 a0001c0006t0007g0081 a0001c0006t0007g0251 a0001c0006t0007g0401 a0001c0006t0011g0120 a0001c0006t0014g0020 a0001c0006t0020g0145 a0001c0007t0005g0011 a0001c0007t0005g0032 a0001c0007t0005g0094 a0001c0007t0005g0180 a0001c0007t0005g0210 a0001c0007t0005g0233 a0001c0007t0005g0367 a0001c0007t0005g0372 a0001c0007t0005g0387 a0001c0007t0005g0388 a0001c0007t0019g0161 a0001c0008t0001g0268 a0001c0008t0005g0106 a0001c0008t0005g0115 a0001c0008t0005g0178 a0001c0008t0005g0202 a0001c0008t0005g0386 a0001c0008t0005g0392 a0001c0009t0001g0044 a0001c0009t0001g0056 a0001c0009t0001g0092 a0001c0009t0001g0097 a0001c0009t0001g0129 a0001c0009t0001g0223 a0001c0009t0007g0082 a0001c0009t0012g0087 a0001c0010t0001g0080 a0001c0010t0001g0215 a0001c0010t0001g0232 a0001c0011t0003g0059 a0001c0011t0004g0197 a0001c0011t0004g0390 a0001c0011t0006g0189 a0001c0012t0002g0042 a0001c0012t0002g0101 a0001c0012t0002g0218 a0001c0012t0003g0244 a0001c0012t0003g0248 a0001c0012t0004g0062 a0001c0012t0004g0243 a0001c0014t0006g0229 a0001c0014t0006g0389 a0001c0015t0001g0029 a0001c0015t0001g0073 a0001c0015t0001g0075 a0001c0015t0001g0378 a0001c0015t0014g0067 a0001c0016t0001g0181 a0001c0016t0001g0220 a0001c0016t0007g0052 a0001c0016t0007g0058 a0001c0017t0010g0395 a0001c0018t0005g0013 a0001c0018t0005g0070 a0001c0018t0005g0242 a0001c0019t0003g0249 a0001c0019t0004g0084 a0001c0019t0004g0085 a0001c0020t0014g0140 a0001c0021t0002g0137 a0001c0021t0009g0207 a0001c0021t0015g0127 a0001c0023t0013g0385 a0001c0027t0005g0031 a0001c0028t0007g0213 a0001c0028t0007g0245 a0001c0031t0001g0028 a0001c0031t0001g0043 a0001c0032t0004g0194 a0001c0032t0004g0195 a0001c0033t0003g0077 a0001c0034t0005g0396 a0001c0036t0010g0165 a0001c0037t0002g0230 a0001c0039t0005g0371 a0001c0043t0002g0370 a0001c0044t0001g0185 a0001c0046t0003g0063 a0001c0047t0018g0228 a0001c0049t0005g0369 a0001c0050t0005g0125 a0001c0052t0006g0099 a0001c0053t0001g0126 a0001c0055t0005g0234 a0001c0058t0009g0214 a0001c0059t0004g0241 a0001c0060t0003g0394 a0001c0064t0002g0149 a0001c0065t0001g0166 a0002c0013t0004g0027 a0002c0013t0004g0252 a0002c0013t0004g0253 a0002c0013t0004g0254 a0003c0030t0003g0040 a0003c0030t0003g0212 a0004c0051t0004g0112 a0005c0063t0005g0246 a0007c0042t0002g0374	261	395	0.6608	32	c.-50 others(43): Show c.-5022_-5021insTCACTCACTCATTCACTCACTCATTCACCTCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		4973		chr10	TogoVar
PFKP_chr10_3062548_3141802	3106962	T T	TGCCCCTG others(25): Show TGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0202 a0001c0008t0005g0202	1	400	0.0025	32	c.775 others(47): Show c.775-239_775-208dupTCACCCCTGCCCCTCTCCTCGCCCCTGCCC CT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03098.hp2 HG02738.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0183 a0001c0001t0001g0046 a0001c0001t0001g0183	2	244	0.0082	32	c.-35 others(43): Show c.-3543_-3542insATATATATATATATTTTTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	243	0.0041	32	c.-35 others(43): Show c.-3543_-3542insATATATATATATATATATATATTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGLYRP2_chr19_15463645_15484501	15482612	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	155	0.0065	32	c.-32 others(43): Show c.-3242_-3241insAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3112		chr19	TogoVar
PGLYRP3_chr1_153292116_153317952	153297581	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03471.hp1 HG03209.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0036 a0002c0002t0009 a0002c0002t0036	a0002c0002t0009g0080 a0002c0002t0036g0207 a0002c0002t0009g0080 a0002c0002t0036g0207	2	339	0.0059	32	c.37 others(41): Show c.374_*375insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8	374		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(25): Show AATAAATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02145.hp1 others(2): Show HG01106.hp1 HG01891.hp2 HG02145.hp1 HG03130.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0192 a0002c0002t0004g0193 a0002c0002t0004g0194 others(2): Show a0002c0002t0004g0192 a0002c0002t0004g0193 a0002c0002t0004g0194 a0002c0002t0004g0197 a0002c0002t0004g0198	5	75	0.0667	32	c.112 others(49): Show c.112-9243_112-9242insATATATATATATATATATATATATTTAT TTAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG03209.hp1 others(1): Show HG02055.hp1 HG03130.hp2 HG03209.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0015 a0002c0002t0004 a0002c0002t0005 a0001c0004t0015 a0002c0002t0004 a0002c0002t0005	a0001c0004t0015g0094 a0001c0004t0015g0095 a0002c0002t0004g0296 others(1): Show a0001c0004t0015g0094 a0001c0004t0015g0095 a0002c0002t0004g0296 a0002c0002t0005g0249	4	74	0.0541	32	c.112 others(49): Show c.112-9243_112-9242insATATATATATATATATATATATATATAT ATAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2_chr4_37821686_37867937	37841100	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18973.hp1 NA18964.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	96	0.0208	32	c.719 others(47): Show c.719+842_719+843insATATATATATATATATATATATATATATAT GT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTGGCTT others(25): Show GCTGGCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0037 a0001c0001t0101g0037	1	172	0.0058	32	c.50 others(41): Show c.502_*503insGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	503	INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results