Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
PDZRN3_chr3_73377431_73629941	73563014	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03239.hp2 NA19010.hp2 HG02818.hp1 HG03239.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0124 a0001c0001t0002g0178 a0001c0001t0002g0053 a0001c0001t0002g0124 a0001c0001t0002g0178	3	216	0.0139	25	c.918 others(44): Show c.918+39339_918+39340insTATATATATATATATATATATATAT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG04115.hp2 NA20752.hp1 HG02622.hp2 HG04115.hp2 NA20752.hp1	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0013 a0004c0003 a0021c0039 a0001c0013 a0004c0003 a0021c0039	a0001c0013t0001 a0004c0003t0001 a0021c0039t0001 a0001c0013t0001 a0004c0003t0001 a0021c0039t0001	a0001c0013t0001g0068 a0004c0003t0001g0081 a0021c0039t0001g0043 a0001c0013t0001g0068 a0004c0003t0001g0081 a0021c0039t0001g0043	3	206	0.0146	25	c.843 others(44): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41266310	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	206	0.0049	25	c.843 others(44): Show c.843+72123_843+72147dupAAAAAAAAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77182749	C C	CAATAAAA others(18): Show CAATAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0316 a0001c0001t0023g0316	1	326	0.0031	25	c.-11 others(42): Show c.-114-710_-114-709insTTTTTTTTTTTTTTTTTTTTTTATT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77226044	G G	GATATATA others(18): Show GATATATATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0112 a0002c0002t0015g0112	1	326	0.0031	25	c.-11 others(46): Show c.-115+26322_-115+26323insATATATATATATATATTATATATA T	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156911076	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp2 others(13): Show HG00280.hp2 HG00544.hp1 HG00558.hp2 HG02129.hp1 HG02145.hp1 HG02647.hp2 HG02976.hp1 HG03516.hp1 HG03834.hp1 NA18612.hp1 NA18949.hp2 NA18951.hp2 NA18983.hp1 NA18993.hp2 NA19005.hp1 NA19057.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0020	a0001c0002 a0001c0018 a0002c0001 others(4): Show a0001c0002 a0001c0018 a0002c0001 a0002c0006 a0003c0020 a0006c0017 a0020c0036	a0001c0002t0003 a0001c0002t0004 a0001c0018t0002 others(5): Show a0001c0002t0003 a0001c0002t0004 a0001c0018t0002 a0002c0001t0001 a0002c0006t0005 a0003c0020t0003 a0006c0017t0002 a0020c0036t0019	a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0090 others(10): Show a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0090 a0001c0002t0003g0098 a0001c0002t0004g0126 a0001c0002t0004g0134 a0001c0002t0004g0241 a0001c0018t0002g0136 a0002c0001t0001g0035 a0002c0006t0005g0080 a0003c0020t0003g0093 a0006c0017t0002g0013 a0020c0036t0019g0109	16	384	0.0417	25	c.195 others(42): Show c.1951+350_1951+351insTTTCTTTCCTTTCTTTCTTTCTTTC	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEBP1_chr12_118131124_118150584	118133194	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02698.hp1 HG03704.hp1 others(1): Show HG02257.hp2 HG02698.hp1 HG03704.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018	a0001c0001t0004g0079 a0001c0001t0008g0049 a0001c0001t0018g0128 a0001c0001t0004g0079 a0001c0001t0008g0049 a0001c0001t0018g0128	4	426	0.0094	25	c.-30 others(36): Show c.-3016_-3015insTTATTTTATTTTATTTTATTTTATT	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2929		chr12	TogoVar
PECAM1_chr17_64314415_64395860	64342933	T T	TGGGTGTG others(18): Show TGGGTGTGCACACACTCATGCACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0133 a0001c0004t0001g0133	1	288	0.0035	25	c.210 others(44): Show c.2108-1268_2108-1244dupTGTGTGCATGAGTGTGTGCACACCC	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	13/15			chr17	TogoVar
PELP1_chr17_4664774_4709137	4668953	C C	CATATATA others(18): Show CATATATATAACACATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0214 a0006c0008t0004g0214	1	316	0.0032	25	c.24 others(36): Show c.2485_*2486insATATATATATATGTGTTATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		820		chr17	TogoVar
PENK_chr8_56435957_56451641	56447971	G G	GAGAACCA others(18): Show GAGAACCAACTGTTCATGGGATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	436	0.0023	25	c.-14 others(36): Show c.-1463_-1462insAAAAATCCCATGAACAGTTGGTTCT	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding		1331		chr8	TogoVar
PEPD_chr19_33381950_33526791	33431992	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02559.hp2 HG00558.hp1 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0125 a0001c0003t0001g0097 a0001c0003t0001g0125	2	314	0.0064	25	c.672 others(44): Show c.672-18350_672-18349insTTTTTTTTTTTTTTTTTTTTTTTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18978.hp2 NA18993.hp2 NA18954.hp2 NA18978.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0113 a0001c0003t0001g0137 a0001c0003t0001g0138	3	410	0.0073	25	c.113 others(44): Show c.1137-2080_1137-2079insAAAAAAAAAAAAATATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0148 a0001c0003t0001g0148	1	410	0.0024	25	c.113 others(44): Show c.1137-2080_1137-2079insAAAAAAAAAAATATATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	410	0.0024	25	c.113 others(44): Show c.1137-2080_1137-2079insAAAAAAAAATATATATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	410	0.0024	25	c.152 others(44): Show c.1523-3276_1523-3275insCAAAAAAAAAAAAAAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(18): Show CTTTATTTCTTTCTTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG04199.hp2 HG01993.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0142 a0002c0002t0002g0240 a0001c0001t0001g0142 a0002c0002t0002g0240	2	408	0.0049	25	c.-26 others(36): Show c.-2692_-2691insATAAATAAATAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(18): Show CTTTATTTCTTTCTTTCTTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02293.hp1 NA18957.hp2 others(2): Show HG00438.hp1 HG02293.hp1 NA18957.hp2 NA19005.hp1 NA19070.hp1	a0002 a0003 a0021 a0002 a0003 a0021	a0002c0002 a0003c0003 a0021c0024 a0002c0002 a0003c0003 a0021c0024	a0002c0002t0002 a0003c0003t0004 a0021c0024t0002 a0002c0002t0002 a0003c0003t0004 a0021c0024t0002	a0002c0002t0002g0006 a0002c0002t0002g0254 a0003c0003t0004g0063 others(1): Show a0002c0002t0002g0006 a0002c0002t0002g0254 a0003c0003t0004g0063 a0021c0024t0002g0239	5	408	0.0123	25	c.-26 others(36): Show c.-2692_-2691insATAAATAAAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(18): Show CTTTATTTCTTTCTTTCTTTCTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01074.hp1 others(5): Show HG00140.hp1 HG00673.hp2 HG01074.hp1 HG01256.hp1 HG01258.hp1 HG02735.hp2 HG03239.hp1 NA18999.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0004c0004t0002 a0001c0001t0001 a0002c0002t0002 a0004c0004t0002	a0001c0001t0001g0141 a0002c0002t0002g0006 a0002c0002t0002g0011 others(3): Show a0001c0001t0001g0141 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0248 a0002c0002t0002g0249 a0004c0004t0002g0004	8	408	0.0196	25	c.-26 others(36): Show c.-2692_-2691insATAAAGAAAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(18): Show CTTTATTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(112): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19059.hp2 NA19064.hp2 NA19065.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0017 a0018 a0019	a0001c0001 a0001c0020 a0001c0042 others(10): Show a0001c0001 a0001c0020 a0001c0042 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0008 a0007c0010 a0009c0014 a0017c0029 a0018c0033 a0019c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0020t0002 a0001c0042t0003 a0002c0002t0002 a0003c0003t0004 a0003c0003t0020 a0004c0004t0002 a0005c0006t0005 a0006c0008t0001 a0007c0010t0001 a0009c0014t0002 a0017c0029t0001 a0018c0033t0001 a0019c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0235 a0001c0001t0002g0008 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0119 a0001c0001t0003g0185 a0001c0001t0006g0206 a0001c0001t0007g0034 a0001c0001t0017g0208 a0001c0020t0002g0083 a0001c0042t0003g0205 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0049 a0002c0002t0002g0241 a0003c0003t0004g0014 a0003c0003t0004g0023 a0003c0003t0004g0025 a0003c0003t0004g0051 a0003c0003t0004g0079 a0003c0003t0020g0070 a0004c0004t0002g0004 a0004c0004t0002g0042 a0004c0004t0002g0194 a0005c0006t0005g0219 a0006c0008t0001g0085 a0006c0008t0001g0087 a0007c0010t0001g0095 a0009c0014t0002g0199 a0009c0014t0002g0200 a0017c0029t0001g0086 a0018c0033t0001g0187 a0019c0035t0001g0189	115	408	0.2819	25	c.-26 others(36): Show c.-2692_-2691insAGAAAGAAAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	408	0.0025	25	c.-26 others(36): Show c.-2692_-2691insAGAAAGAAAGAAAGAAAGAAAGAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PET117_chr20_18132863_18148169	18144966	A A	ACCTGCCT others(18): Show ACCTGCCTGGGAAATCACATCAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	424	0.0024	25	c.26 others(36): Show c.2609_*2610insCCTGCCTGGGAAATCACATCAATAC	PET117	ENSG00000232838.4	transcript	ENST00000432901.4	protein_coding		1798		chr20	TogoVar
PEX1_chr7_92482025_92533520	92516008	A A	AAAGAGAA others(18): Show AAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 NA18956.hp2 HG00323.hp2 HG00609.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0002t0002g0246 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0002t0002g0246	3	310	0.0097	25	c.123 others(44): Show c.1239+1243_1239+1267dupCTCTTCTCTTCTCTTCTCTTCTCTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516055	A A	AGAGAAGA others(18): Show AGAGAAGAGAAGAGAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG02602.hp1 HG01109.hp1 HG01192.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0210 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0001t0001g0210 a0001c0002t0002g0239 a0001c0002t0002g0240	3	310	0.0097	25	c.123 others(44): Show c.1239+1220_1239+1221insCTTTTCTTTTTTCTCTTCTCTTCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516055	A A	AGAGAAGA others(18): Show AGAGAAGAGAAGAGAAGAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA20805.hp2 HG00544.hp2 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0016 a0001c0002 a0008c0016	a0001c0002t0002 a0008c0016t0002 a0001c0002t0002 a0008c0016t0002	a0001c0002t0002g0241 a0008c0016t0002g0234 a0001c0002t0002g0241 a0008c0016t0002g0234	2	310	0.0065	25	c.123 others(44): Show c.1239+1220_1239+1221insCTTTTTTCTCTTCTCTTCTCTTCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX3_chr6_143445805_143495616	143455171	A A	ATTTTCTT others(18): Show ATTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02970.hp1 others(3): Show HG02559.hp2 HG02572.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0243 a0001c0001t0001g0248	6	412	0.0146	25	c.74- others(40): Show c.74-3899_74-3875dupCTTTTCTTTTCTTTTCTTTTCTTTT	PEX3	ENSG00000034693.15	transcript	ENST00000367591.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
PEX5_chr12_7184686_7216459	7196753	T T	TATAATGT others(18): Show TATAATGTAATAATTATATATGTCAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01255.hp2 others(17): Show HG00558.hp1 HG00558.hp2 HG01255.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02572.hp1 HG02717.hp1 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18981.hp2 NA18986.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0005t0012	a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0048 others(14): Show a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0048 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0278 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0004g0038 a0001c0001t0006g0059 a0001c0005t0012g0294	20	428	0.0467	25	c.449 others(42): Show c.449-2254_449-2230dupATGTAATAATTATATATGTCACATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197023	G G	GTAATCAT others(18): Show GTAATCATATGTCATATACAATGTAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0314 a0002c0002t0005g0314	1	428	0.0023	25	c.449 others(42): Show c.449-1984_449-1983insCATATGTCATATACAATGTAATAAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197242	T T	TTATGTCA others(18): Show TTATGTCATATATAATGTAATAATTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01891.hp1 others(10): Show HG00735.hp2 HG01109.hp2 HG01891.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02735.hp1 HG03471.hp1 HG03579.hp2 HG03710.hp1 HG04204.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0017 a0002c0002t0005 a0001c0001t0004 a0001c0001t0017 a0002c0002t0005	a0001c0001t0004g0216 a0001c0001t0004g0220 a0001c0001t0004g0298 others(8): Show a0001c0001t0004g0216 a0001c0001t0004g0220 a0001c0001t0004g0298 a0001c0001t0017g0204 a0002c0002t0005g0020 a0002c0002t0005g0312 a0002c0002t0005g0315 a0002c0002t0005g0316 a0002c0002t0005g0317 a0002c0002t0005g0319 a0002c0002t0005g0320	13	428	0.0304	25	c.449 others(42): Show c.449-1766_449-1765insGTCATATATAATGTAATAATTATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3084713	A A	AGGAGAGT others(18): Show AGGAGAGTCCTCCAGCCCCTCCCCAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	402	0.0025	25	c.186 others(42): Show c.186+2254_186+2278dupGAGAGTCCTCCAGCCCCTCCCCAGG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084774	A A	AGCCCCTC others(18): Show AGCCCCTCCCCAGGAGAGTCCTCCAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02071.hp2 NA19084.hp2 HG01978.hp1 HG02071.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0003t0014 a0001c0009t0001 a0001c0001t0003 a0001c0003t0014 a0001c0009t0001	a0001c0001t0003g0320 a0001c0003t0014g0020 a0001c0009t0001g0043 a0001c0001t0003g0320 a0001c0003t0014g0020 a0001c0009t0001g0043	3	402	0.0075	25	c.186 others(42): Show c.186+2313_186+2314insGCCCCTCCCCAGGAGAGTCCTCCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3084854	C C	CCCAGCAC others(18): Show CCCAGCACGGTCCCCCACTCCACTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(71): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00642.hp2 HG01099.hp2 HG01257.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03453.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0020 a0001c0022 a0001c0027 a0001c0029 a0001c0037 a0001c0046 a0001c0067 a0002c0013 a0006c0035 a0009c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0012 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006 a0001c0005t0007 a0001c0006t0001 a0001c0007t0005 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0010t0001 a0001c0011t0018 a0001c0014t0002 a0001c0014t0004 a0001c0020t0001 a0001c0022t0001 a0001c0027t0005 a0001c0029t0001 a0001c0037t0002 a0001c0046t0003 a0001c0067t0005 a0002c0013t0004 a0006c0035t0005 a0009c0054t0003	a0001c0001t0002g0308 a0001c0001t0002g0338 a0001c0001t0002g0339 others(71): Show a0001c0001t0002g0308 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0348 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0277 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0323 a0001c0001t0004g0045 a0001c0001t0004g0256 a0001c0001t0004g0274 a0001c0001t0008g0300 a0001c0001t0008g0343 a0001c0002t0002g0068 a0001c0002t0002g0309 a0001c0002t0002g0349 a0001c0002t0004g0102 a0001c0002t0004g0184 a0001c0002t0004g0311 a0001c0002t0004g0318 a0001c0002t0006g0351 a0001c0003t0001g0021 a0001c0003t0001g0085 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0259 a0001c0003t0001g0262 a0001c0003t0001g0268 a0001c0003t0001g0278 a0001c0003t0001g0284 a0001c0003t0001g0297 a0001c0003t0001g0301 a0001c0003t0001g0313 a0001c0003t0001g0316 a0001c0003t0012g0263 a0001c0004t0006g0293 a0001c0005t0002g0310 a0001c0005t0002g0330 a0001c0005t0006g0285 a0001c0005t0006g0307 a0001c0005t0007g0032 a0001c0006t0001g0065 a0001c0006t0001g0327 a0001c0007t0005g0031 a0001c0007t0005g0093 a0001c0007t0005g0281 a0001c0008t0001g0267 a0001c0008t0005g0299 a0001c0009t0001g0322 a0001c0010t0001g0163 a0001c0011t0018g0161 a0001c0014t0002g0272 a0001c0014t0004g0162 a0001c0014t0004g0273 a0001c0020t0001g0324 a0001c0022t0001g0280 a0001c0022t0001g0294 a0001c0022t0001g0305 a0001c0027t0005g0030 a0001c0029t0001g0304 a0001c0037t0002g0219 a0001c0046t0003g0062 a0001c0067t0005g0270 a0002c0013t0004g0026 a0002c0013t0004g0252 a0002c0013t0004g0253 a0006c0035t0005g0269 a0009c0054t0003g0265	74	402	0.1841	25	c.186 others(42): Show c.186+2435_186+2459dupCTCCACTCTCCAGCACGGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085072	C C	CCCAGCAC others(18): Show CCCAGCACAGTCCGCCACTCCACTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03195.hp2 HG03471.hp1 HG00639.hp2 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0004 a0001c0008t0005 a0001c0004t0004 a0001c0008t0005	a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0008t0005g0401 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0008t0005g0401	3	402	0.0075	25	c.186 others(42): Show c.186+2618_186+2619insAGTCCGCCACTCCACTCTCCAGCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085232	C C	CCACTCCA others(18): Show CCACTCCACTCTCCAGCACAGTCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04199.hp1 HG02602.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0013 a0001c0005 a0002c0013	a0001c0005t0002 a0002c0013t0004 a0001c0005t0002 a0002c0013t0004	a0001c0005t0002g0004 a0002c0013t0004g0005 a0001c0005t0002g0004 a0002c0013t0004g0005	2	402	0.0050	25	c.186 others(42): Show c.186+2774_186+2775insTCCACTCTCCAGCACAGTCCCTCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085401	T T	TCCCCCAA others(18): Show TCCCCCAACCCCTCCCCAGCACAGTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0145	1	402	0.0025	25	c.186 others(42): Show c.186+2945_186+2969dupCAACCCCTCCCCAGCACAGTCCCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085554	T T	TCCACTCT others(18): Show TCCACTCTCCAGCACAGTCCCCCAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	402	0.0025	25	c.186 others(42): Show c.186+3095_186+3096insACTCTCCAGCACAGTCCCCCAAACC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085725	C C	CACTCTCC others(18): Show CACTCTCCAGCACAGTGCCCCCCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0287 a0001c0003t0012g0287	1	402	0.0025	25	c.186 others(42): Show c.186+3279_186+3280insGCCCCCCTCTACTCTCCAGCACAGT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085811	C C	CTGTCCTC others(18): Show CTGTCCTCCACCCTGGGCCAAAGCAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0093 a0001c0007t0005g0093	1	402	0.0025	25	c.186 others(42): Show c.186+3350_186+3351insTGTCCTCCACCCTGGGCCAAAGCAT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PGAP1_chr2_196828004_196931707	196927409	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	188	0.0053	25	c.-81 others(34): Show c.-818_-794dupTTTTTTTTTTTTTTTTTTTTTTTTT	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		703		chr2	TogoVar
PGAP6_chr16_365788_386978	378520	A A	ATCGCCAC others(18): Show ATCGCCACCCACACTGCCATCGCCAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	376	0.0027	25	c.122 others(40): Show c.122-673_122-672insGTGGCGATGGCAGTGTGGGTGGCGA	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGLYRP2_chr19_15463645_15484501	15477721	T T	TAAAATTA others(18): Show TAAAATTAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02273.hp2 NA19011.hp2 others(1): Show HG01934.hp2 HG02273.hp2 NA19011.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0023 a0001c0001 a0002c0023	a0001c0001t0001 a0002c0023t0001 a0001c0001t0001 a0002c0023t0001	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 others(1): Show a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0002c0023t0001g0119	4	382	0.0105	25	c.62- others(40): Show c.62-1114_62-1113insTTTTATTTTATTTTATTTTAATTTT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	1/4			chr19	TogoVar
PGLYRP3_chr1_153292116_153317952	153297581	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0068 a0002c0013t0068	a0002c0013t0068g0186 a0002c0013t0068g0186	1	434	0.0023	25	c.37 others(34): Show c.374_*375insTCTTTCTTTCTTTCTTTCTTTCTTT	PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8	374		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74355553	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0245 a0001c0004t0015g0245	1	380	0.0026	25	c.556 others(42): Show c.556-4002_556-3978dupTTTTTTTTTTTTTTTTTTTTTTTTT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	5/13			chr11	TogoVar
PGM5_chr9_68351611_68536061	68376834	T T	TTTCTCTT others(18): Show TTTCTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19086.hp1 NA18992.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0006 a0001c0003t0014g0019 a0001c0003t0014g0006 a0001c0003t0014g0019	2	246	0.0081	25	c.262 others(42): Show c.262-1365_262-1364insTTCTCTTTCTTTCTTTCTTTCTTTC	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10			chr9	TogoVar
PGPEP1L_chr15_98963229_99012792	98978726	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0373 a0001c0001t0012g0373	1	398	0.0025	25	c.-14 others(44): Show c.-141-7569_-141-7568insAAAAAAAAAAAAATATATATATATA	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding	2/4			chr15	TogoVar
PGPEP1L_chr15_98963229_99012792	98978726	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0255 a0001c0001t0031g0255	1	398	0.0025	25	c.-14 others(44): Show c.-141-7569_-141-7568insAAAAAAAAAAAAAAATATATATATA	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding	2/4			chr15	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01256.hp2 others(4): Show HG00642.hp2 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG03130.hp1 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0041 a0001c0001t0043 others(3): Show a0001c0001t0020 a0001c0001t0041 a0001c0001t0043 a0001c0001t0159 a0001c0001t0161 a0001c0001t0164	a0001c0001t0020g0055 a0001c0001t0020g0056 a0001c0001t0041g0290 others(4): Show a0001c0001t0020g0055 a0001c0001t0020g0056 a0001c0001t0041g0290 a0001c0001t0043g0294 a0001c0001t0159g0027 a0001c0001t0161g0027 a0001c0001t0164g0293	7	412	0.0170	25	c.-19 others(36): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		1865		chr19	TogoVar
PHACTR1_chr6_12711767_13292837	12830129	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp2 HG03098.hp2 others(2): Show HG02109.hp1 HG02818.hp2 HG03098.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0051 a0001c0001t0003g0010 a0001c0001t0008g0106	5	108	0.0463	25	c.250 others(44): Show c.250+80342_250+80366dupAGAAAGAAAGAAAGAAAGAAAGAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13177172	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	108	0.0093	25	c.497 others(42): Show c.497-5340_497-5316dupAAAAAAAAAAAAAAAAAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	108	0.0093	25	c.665 others(44): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143779899	T T	TTTATATT others(18): Show TTTATATTATATTATATTATATTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0106 a0001c0003t0106	a0001c0003t0106g0251 a0001c0003t0106g0251	1	310	0.0032	25	c.164 others(44): Show c.1645+2544_1645+2568dupATATTATATTATATTATATTATATT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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