Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PEAR1_chr1_156888718_156921429	156911037	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0204 a0002c0001t0001g0204	1	384	0.0026	15	c.195 others(32): Show c.1951+296_1951+297insCTTTCTTTCTTTCTT	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEBP4_chr8_22708251_22932914	22795164	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18980.hp1 NA18999.hp1 others(2): Show NA18947.hp2 NA18980.hp1 NA18999.hp1 NA19065.hp1 NA19079.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0002 a0002c0002t0001 a0008c0010t0004 a0001c0001t0002 a0002c0002t0001 a0008c0010t0004	a0001c0001t0002g0175 a0001c0001t0002g0206 a0001c0001t0002g0258 others(2): Show a0001c0001t0002g0175 a0001c0001t0002g0206 a0001c0001t0002g0258 a0002c0002t0001g0078 a0008c0010t0004g0169	5	278	0.0180	15	c.357 others(34): Show c.357+22472_357+22473insTATATATATATATAT	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64349587	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19087.hp2 HG01433.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0074 a0002c0002t0002g0055 a0002c0002t0001g0074 a0002c0002t0002g0055	2	288	0.0069	15	c.204 others(32): Show c.2044+778_2044+792dupTTTTTTTTTTTTTTT	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	12/15			chr17	TogoVar
PECAM1_chr17_64314415_64395860	64353329	A A	ACACACAC others(8): Show ACACACACACACAACT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0104 a0003c0007t0002g0104	1	288	0.0035	15	c.191 others(32): Show c.1916+147_1916+161dupAGTTGTGTGTGTGTG	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	10/15			chr17	TogoVar
PECR_chr2_216033388_216086809	216046310	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	398	0.0025	15	c.715 others(32): Show c.715-2296_715-2295insAAAAATATATATATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	6/7			chr2	TogoVar
PELI2_chr14_56113411_56306524	56294351	C C	CGCTCATG others(8): Show CGCTCATGGACTCCAG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0356 a0001c0001t0003g0356	1	368	0.0027	15	c.697 others(32): Show c.697-2248_697-2234dupGCTCATGGACTCCAG	PELI2	ENSG00000139946.11	transcript	ENST00000267460.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
PELP1_chr17_4664774_4709137	4694497	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03688.hp2 HG03834.hp1 others(1): Show HG02735.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0058 a0001c0001t0001g0173 a0001c0001t0001g0012 a0001c0001t0001g0058 a0001c0001t0001g0173	4	316	0.0127	15	c.250 others(32): Show c.250-3056_250-3055insTTTTTTTTTTTTTTT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	1/16			chr17	TogoVar
PEMT_chr17_17500563_17596708	17586289	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	348	0.0029	15	c.96+ others(30): Show c.96+5241_96+5242insCTTTCTTTCTTTCTT	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PEPD_chr19_33381950_33526791	33453317	A A	AAAAAAAT others(8): Show AAAAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	314	0.0032	15	c.671 others(32): Show c.671+9677_671+9678insATTTATTTATTTTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7806802	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0268 a0001c0007t0001g0268	1	410	0.0024	15	c.113 others(34): Show c.1137-2091_1137-2090insTATATATATATATAT	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21			chr1	TogoVar
PER3_chr1_7779291_7850177	7806808	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp2 NA18974.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0362 a0001c0001t0001g0294 a0001c0001t0001g0362	2	410	0.0049	15	c.113 others(34): Show c.1137-2085_1137-2084insTATATATATATATAT	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21			chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	410	0.0024	15	c.152 others(34): Show c.1523-3282_1523-3268dupAAAAAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERP_chr6_138083505_138112419	138086310	A A	AAATATAT others(8): Show AAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	430	0.0023	15	c.57 others(26): Show c.5731_*5732insATATATATATATATT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2194		chr6	TogoVar
PERP_chr6_138083505_138112419	138102009	G G	GACACTAG others(8): Show GACACTAGACTCCCCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0202 a0002c0002t0070g0202	1	430	0.0023	15	c.214 others(32): Show c.214+5117_214+5118insTGGGGAGTCTAGTGT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding	1/2			chr6	TogoVar
PES1_chr22_30571625_30596910	30595786	T T	TGACCCTG others(8): Show TGACCCTGGTCATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	432	0.0023	15	c.-39 others(26): Show c.-3954_-3953insGTAATGACCAGGGTC	PES1	ENSG00000100029.18	transcript	ENST00000354694.12	protein_coding		3877		chr22	TogoVar
PEX10_chr1_2398974_2417564	2401381	C C	CCTCCTCC others(8): Show CCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(100): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18952.hp1 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18980.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19067.hp2 NA19070.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0003c0014 a0007c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0002t0012 a0001c0011t0027 a0003c0014t0001 a0007c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0006g0022 a0001c0001t0006g0031 a0001c0001t0006g0062 a0001c0001t0006g0088 a0001c0001t0006g0114 a0001c0001t0019g0068 a0001c0001t0019g0091 a0001c0001t0020g0038 a0001c0001t0028g0089 a0001c0001t0029g0090 a0001c0001t0033g0076 a0001c0002t0012g0042 a0001c0002t0012g0122 a0001c0011t0027g0061 a0003c0014t0001g0074 a0007c0012t0001g0073	103	358	0.2877	15	c.43 others(26): Show c.4384_*4385insAGGAGGGAGGAGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2592		chr1	TogoVar
PEX14_chr1_10469950_10635758	10520148	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19043.hp2 HG02451.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0100 a0001c0003t0001g0102 a0001c0001t0001g0100 a0001c0003t0001g0102	2	258	0.0078	15	c.85- others(32): Show c.85-16057_85-16043dupTTTTTTTGTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10520148	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	258	0.0039	15	c.85- others(32): Show c.85-16051_85-16050insTTTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10620291	C C	CAATAAAA others(8): Show CAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(17): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG01928.hp1 HG01981.hp2 HG02056.hp1 HG02155.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG04199.hp2 HG04204.hp1 NA18947.hp1 NA18963.hp2 NA18966.hp1 NA18982.hp1 NA18995.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0012 a0001c0003 a0001c0007 a0001c0012	a0001c0003t0001 a0001c0007t0001 a0001c0012t0001 a0001c0003t0001 a0001c0007t0001 a0001c0012t0001	a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 others(17): Show a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0001g0092 a0001c0003t0001g0105 a0001c0003t0001g0131 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0157 a0001c0003t0001g0222 a0001c0003t0001g0238 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0202 a0001c0007t0001g0210 a0001c0012t0001g0059	20	258	0.0775	15	c.384 others(32): Show c.384+1901_384+1915dupATAAAATAAAATAAA	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX1_chr7_92482025_92533520	92516008	A A	AAAGAAAA others(8): Show AAAGAAAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	310	0.0032	15	c.123 others(34): Show c.1239+1267_1239+1268insCTCTTCTCTTTTCTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516055	A A	AGAGAAGA others(8): Show AGAGAAGAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG03669.hp1 HG00099.hp2 HG01261.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0002t0002 a0001c0014t0001 a0001c0001t0001 a0001c0002t0002 a0001c0014t0001	a0001c0001t0001g0213 a0001c0002t0002g0244 a0001c0014t0001g0212 a0001c0001t0001g0213 a0001c0002t0002g0244 a0001c0014t0001g0212	3	310	0.0097	15	c.123 others(34): Show c.1239+1220_1239+1221insCTTTTTTCTCTTCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX2_chr8_76975258_77005078	76996351	C C	CCATGACC others(8): Show CCATGACCAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0079 a0001c0001t0013g0079	1	412	0.0024	15	c.-16 others(34): Show c.-160+3624_-160+3638dupCCCCCTCTGGTCATG	PEX2	ENSG00000164751.15	transcript	ENST00000357039.9	protein_coding	1/3			chr8	TogoVar
PEX3_chr6_143445805_143495616	143455171	A A	ATTTTCTT others(8): Show ATTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02622.hp2 others(1): Show HG01884.hp2 HG02055.hp1 HG02622.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0237 a0001c0001t0007g0221 a0001c0001t0001g0032 a0001c0001t0001g0237 a0001c0001t0007g0221	4	412	0.0097	15	c.74- others(30): Show c.74-3889_74-3875dupCTTTTCTTTTCTTTT	PEX3	ENSG00000034693.15	transcript	ENST00000367591.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
PEX5L_chr3_179789958_180041937	180010246	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02257.hp1 HG02486.hp1 others(1): Show HG01069.hp2 HG02257.hp1 HG02486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0039 a0001c0001t0048 others(1): Show a0001c0001t0018 a0001c0001t0039 a0001c0001t0048 a0001c0001t0087	a0001c0001t0018g0043 a0001c0001t0039g0027 a0001c0001t0048g0047 others(1): Show a0001c0001t0018g0043 a0001c0001t0039g0027 a0001c0001t0048g0047 a0001c0001t0087g0026	4	220	0.0182	15	c.21+ others(32): Show c.21+26318_21+26332dupAAAAAAAAAAAAAAA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7197279	A A	AATAATTA others(8): Show AATAATTATATGTCAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp1 NA20905.hp2 HG01123.hp1 HG01175.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0239 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0239	3	428	0.0070	15	c.449 others(32): Show c.449-1730_449-1729insAATTATATGTCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX7_chr6_136817592_136918934	136837361	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(123): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19078.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0002c0002t0004	a0001c0001t0001g0008 a0001c0001t0001g0129 a0001c0001t0001g0161 others(119): Show a0001c0001t0001g0008 a0001c0001t0001g0129 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0223 a0001c0001t0001g0275 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 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 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0316 a0001c0001t0007g0013 a0001c0001t0008g0015 a0001c0001t0011g0153 a0002c0002t0004g0150	126	330	0.3818	15	c.340 others(32): Show c.340-8240_340-8239insAAAAAAAAAAAAAAA	PEX7	ENSG00000112357.14	transcript	ENST00000318471.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PF4_chr4_73975811_73987027	73982164	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	366	0.0027	15	c.-21 others(24): Show c.-212_-211insTTTTTTTTTTTTTTT	PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding		138		chr4	TogoVar
PFKFB1_chrX_54927961_54999188	54928075	G G	GTCCACGA others(8): Show GTCCACGAGGGTCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	222	0.0045	15	c.53 others(26): Show c.5313_*5327dupACTGACCCTCGTGGA	PFKFB1	ENSG00000158571.11	transcript	ENST00000375006.8	protein_coding		4885		chrX	TogoVar
PFKFB2_chr1_207048275_207082817	207063888	G G	GGGGGTGT others(8): Show GGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	342	0.0029	15	c.507 others(28): Show c.507+60_507+61insGGGTGTGTGTGTGTG	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6208371	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01069.hp2 others(27): Show HG00408.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01255.hp2 HG01975.hp1 HG02055.hp2 HG02145.hp2 HG02523.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03471.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp1 NA18957.hp2 NA18959.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp1 NA19012.hp2 NA19056.hp1 NA19064.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0042 a0001c0001t0084 a0001c0002t0004 a0001c0002t0014 a0001c0002t0046 a0001c0002t0088 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0003c0008t0054	a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0298 others(25): Show a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0287 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0312 a0001c0001t0006g0297 a0001c0001t0007g0011 a0001c0001t0007g0351 a0001c0001t0008g0353 a0001c0001t0009g0296 a0001c0001t0011g0010 a0001c0001t0014g0348 a0001c0001t0020g0283 a0001c0001t0042g0273 a0001c0001t0084g0045 a0001c0002t0004g0349 a0001c0002t0014g0350 a0001c0002t0046g0037 a0001c0002t0088g0271 a0001c0003t0001g0352 a0001c0003t0002g0275 a0001c0003t0005g0284 a0003c0008t0054g0308	30	432	0.0694	15	c.76+ others(30): Show c.76+5043_76+5057dupTTTTTTTTTTTTTTT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKL_chr21_44295053_44332373	44303441	A A	AAAAAAGA others(8): Show AAAAAAGACTTGATCG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0293 a0002c0003t0001g0293	1	392	0.0026	15	c.86- others(30): Show c.86-3235_86-3234insGACTTGATCGAAAAA	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3067766	G G	GGACGGAC others(8): Show GGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	1	402	0.0025	15	c.112 others(28): Show c.112+60_112+61insACGGACGGACGGACG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3079657	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0061 a0001c0012t0004g0061	1	402	0.0025	15	c.113 others(32): Show c.113-2727_113-2726insGGGGGGGGGGGGGGG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3100862	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG02080.hp1 others(4): Show HG00408.hp2 HG01109.hp2 HG02080.hp1 HG03017.hp1 HG03130.hp1 NA18943.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0010t0005	a0001c0001t0002g0122 a0001c0001t0003g0018 a0001c0001t0003g0384 others(4): Show a0001c0001t0002g0122 a0001c0001t0003g0018 a0001c0001t0003g0384 a0001c0003t0001g0106 a0001c0003t0001g0132 a0001c0003t0001g0297 a0001c0010t0005g0014	7	402	0.0174	15	c.265 others(30): Show c.265-497_265-483dupAAAAAAAAAAAAAAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3100862	C C	CAAAATAA others(8): Show CAAAATAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01346.hp2 HG02451.hp1 others(6): Show HG00733.hp1 HG01346.hp2 HG02451.hp1 HG02698.hp1 HG02970.hp1 HG03239.hp1 HG04204.hp2 NA19081.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0007 others(4): Show a0001c0003 a0001c0004 a0001c0007 a0001c0015 a0001c0017 a0001c0020 a0002c0013	a0001c0003t0001 a0001c0004t0004 a0001c0007t0005 others(4): Show a0001c0003t0001 a0001c0004t0004 a0001c0007t0005 a0001c0015t0013 a0001c0017t0011 a0001c0020t0013 a0002c0013t0004	a0001c0003t0001g0009 a0001c0004t0004g0359 a0001c0007t0005g0010 others(6): Show a0001c0003t0001g0009 a0001c0004t0004g0359 a0001c0007t0005g0010 a0001c0007t0005g0333 a0001c0015t0013g0066 a0001c0017t0011g0360 a0001c0020t0013g0136 a0002c0013t0004g0026 a0002c0013t0004g0335	9	402	0.0224	15	c.265 others(30): Show c.265-499_265-498insTAAAAAAAAAAAAAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3113811	G G	GTGTGAAG others(8): Show GTGTGAAGGAAGCCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02280.hp1 HG02922.hp2	a0001 a0001	a0001c0056 a0001c0057 a0001c0056 a0001c0057	a0001c0056t0003 a0001c0057t0009 a0001c0056t0003 a0001c0057t0009	a0001c0056t0003g0331 a0001c0057t0009g0332 a0001c0056t0003g0331 a0001c0057t0009g0332	2	402	0.0050	15	c.137 others(32): Show c.1371+293_1371+294insTGTGAAGGAAGCCTC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3128629	T T	TCCCTGGC others(8): Show TCCCTGGCGCCTCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01099.hp1 others(21): Show HG00280.hp1 HG00733.hp1 HG01099.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02300.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG03130.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0010 others(6): Show a0001c0003 a0001c0006 a0001c0010 a0001c0015 a0001c0020 a0001c0024 a0001c0026 a0001c0031 a0001c0065	a0001c0003t0001 a0001c0006t0013 a0001c0010t0001 others(9): Show a0001c0003t0001 a0001c0006t0013 a0001c0010t0001 a0001c0010t0005 a0001c0015t0001 a0001c0015t0013 a0001c0020t0001 a0001c0020t0013 a0001c0024t0001 a0001c0026t0001 a0001c0031t0001 a0001c0065t0001	a0001c0003t0001g0169 a0001c0003t0001g0255 a0001c0006t0013g0019 others(21): Show a0001c0003t0001g0169 a0001c0003t0001g0255 a0001c0006t0013g0019 a0001c0010t0001g0080 a0001c0010t0001g0163 a0001c0010t0001g0216 a0001c0010t0001g0231 a0001c0010t0001g0236 a0001c0010t0001g0355 a0001c0010t0001g0358 a0001c0010t0005g0014 a0001c0015t0001g0028 a0001c0015t0001g0073 a0001c0015t0001g0075 a0001c0015t0013g0066 a0001c0020t0001g0156 a0001c0020t0001g0324 a0001c0020t0013g0136 a0001c0024t0001g0356 a0001c0026t0001g0171 a0001c0026t0001g0400 a0001c0031t0001g0027 a0001c0031t0001g0042 a0001c0065t0001g0165	24	402	0.0597	15	c.168 others(34): Show c.1684-1188_1684-1174dupCCTGGCGCCTCCTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3134988	T T	TTGTTCAT others(8): Show TTGTTCATGTTTGTAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG03225.hp2 others(1): Show HG01891.hp1 HG02818.hp2 HG03225.hp2 NA18522.hp1	a0001 a0010 a0001 a0010	a0001c0023 a0001c0040 a0010c0048 a0001c0023 a0001c0040 a0010c0048	a0001c0023t0015 a0001c0023t0019 a0001c0040t0015 others(1): Show a0001c0023t0015 a0001c0023t0019 a0001c0040t0015 a0010c0048t0015	a0001c0023t0015g0386 a0001c0023t0019g0254 a0001c0040t0015g0011 others(1): Show a0001c0023t0015g0386 a0001c0023t0019g0254 a0001c0040t0015g0011 a0010c0048t0015g0354	4	402	0.0100	15	c.212 others(32): Show c.2122+407_2122+421dupTGTTCATGTTTGTAG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718447	T T	TGGGAGGT others(8): Show TGGGAGGTCCTGGGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp2 HG00639.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0024 a0001c0002t0004g0024	3	394	0.0076	15	c.719 others(30): Show c.719+330_719+331insAGGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718447	T T	TGGGGGGT others(8): Show TGGGGGGTCCTGGGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01169.hp2 others(4): Show HG00639.hp1 HG01168.hp1 HG01169.hp2 HG03492.hp2 HG04204.hp2 NA18982.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0002t0017 a0001c0001t0004 a0001c0002t0004 a0001c0002t0017	a0001c0001t0004g0019 a0001c0001t0004g0149 a0001c0002t0004g0019 others(2): Show a0001c0001t0004g0019 a0001c0001t0004g0149 a0001c0002t0004g0019 a0001c0002t0004g0153 a0001c0002t0017g0146	7	394	0.0178	15	c.719 others(30): Show c.719+331_719+345dupGGGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718452	G G	GGTCCTGG others(8): Show GGTCCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG01106.hp2 others(11): Show HG00423.hp1 HG00558.hp2 HG01106.hp2 HG02056.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02976.hp2 HG03579.hp2 HG06807.hp1 NA18954.hp2 NA18959.hp2 NA19010.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026	a0001c0001t0001g0016 a0001c0001t0001g0131 a0001c0001t0001g0137 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0007g0176 a0001c0001t0008g0010 a0001c0001t0026g0142	14	394	0.0355	15	c.719 others(30): Show c.719+345_719+346insGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718461	T T	TGGGGGGT others(8): Show TGGGGGGTCCTGGGTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0224 a0001c0002t0044g0224	1	394	0.0025	15	c.719 others(30): Show c.719+345_719+346insGGTCCTGGGTGGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(8): Show GGTCCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02717.hp1 others(1): Show HG01243.hp1 HG02630.hp1 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0027 a0001c0001t0009g0051 a0001c0001t0009g0052	4	394	0.0102	15	c.719 others(30): Show c.719+468_719+469insGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP1_chr2_196828004_196931707	196832775	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02976.hp2 HG03225.hp1 HG02451.hp2 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0167	3	188	0.0160	15	c.84 others(26): Show c.8458_*8459insAAAAAAAAAAAAAAA	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		228		chr2	TogoVar
PGAP1_chr2_196828004_196931707	196927409	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	188	0.0053	15	c.-80 others(24): Show c.-808_-794dupTTTTTTTTTTTTTTT	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		703		chr2	TogoVar
PGAP2_chr11_3803560_3831371	3821055	A A	ATATCTCA others(8): Show ATATCTCAAGCTATGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp1 HG02886.hp1 others(5): Show HG01109.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0028	a0001c0001t0003g0145 a0001c0001t0016g0051 a0001c0001t0016g0214 others(5): Show a0001c0001t0003g0145 a0001c0001t0016g0051 a0001c0001t0016g0214 a0001c0001t0016g0221 a0001c0001t0016g0231 a0001c0001t0017g0051 a0001c0001t0021g0206 a0001c0001t0028g0230	8	418	0.0191	15	c.349 others(32): Show c.349-2812_349-2798dupTATCTCAAGCTATGG	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGLYRP2_chr19_15463645_15484501	15477721	T T	TAAAAATA others(8): Show TAAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0120 a0010c0013t0001g0120	1	382	0.0026	15	c.62- others(30): Show c.62-1114_62-1113insTTTTATTTTATTTTT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	1/4			chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15477721	T T	TAAAATTA others(8): Show TAAAATTAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(184): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0010 a0011 a0014 a0017 a0018 a0019	a0001c0001 a0001c0011 a0002c0002 others(8): Show a0001c0001 a0001c0011 a0002c0002 a0003c0003 a0004c0004 a0010c0013 a0011c0012 a0014c0014 a0017c0017 a0018c0019 a0019c0018	a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0010c0013t0001 a0011c0012t0001 a0014c0014t0001 a0017c0017t0001 a0018c0019t0001 a0019c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(152): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0003g0046 a0001c0011t0001g0246 a0001c0011t0001g0299 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0212 a0002c0002t0001g0243 a0002c0002t0001g0336 a0003c0003t0001g0206 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0334 a0003c0003t0001g0335 a0004c0004t0001g0015 a0004c0004t0001g0057 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0083 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0099 a0004c0004t0001g0103 a0004c0004t0001g0108 a0004c0004t0001g0109 a0004c0004t0001g0113 a0010c0013t0001g0101 a0011c0012t0001g0300 a0014c0014t0001g0298 a0017c0017t0001g0247 a0018c0019t0001g0277 a0019c0018t0001g0248	187	382	0.4895	15	c.62- others(30): Show c.62-1114_62-1113insTTTTATTTTAATTTT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	1/4			chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15477726	T T	TTAAAATA others(8): Show TTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0149 a0003c0003t0001g0149	1	382	0.0026	15	c.62- others(30): Show c.62-1133_62-1119dupTTTTATTTTATTTTA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	1/4			chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15481285	G G	GGAAGTTG others(8): Show GGAAGTTGCTAAGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	382	0.0026	15	c.-19 others(26): Show c.-1915_-1914insTACCTTAGCAACTTC	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		1785		chr19	TogoVar

Search by Variant

Search

Search Results