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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PITPNM3_chr17_6446263_6561555	6560659	C C	CTCTTCCT others(46): Show CTCTTCCTCCTCCTCTCATTATCCTCCTTCTCATTCTCTCTCTTCTCCTC CTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00673.hp1 others(23): Show HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02004.hp1 HG02145.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp2 NA18970.hp2 NA19030.hp1 NA19088.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0024 a0002c0004 a0008c0017	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0045 a0001c0001t0048 a0001c0001t0083 a0001c0002t0029 a0001c0002t0031 a0001c0003t0017 a0001c0003t0040 a0001c0010t0003 a0001c0024t0087 a0002c0004t0008 a0002c0004t0011 a0002c0004t0024 a0002c0004t0047 a0008c0017t0005	a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 others(23): Show a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0006g0128 a0001c0001t0007g0109 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0133 a0001c0001t0015g0112 a0001c0001t0045g0138 a0001c0001t0048g0134 a0001c0001t0083g0136 a0001c0002t0029g0130 a0001c0002t0031g0132 a0001c0003t0017g0067 a0001c0003t0040g0125 a0001c0010t0003g0139 a0001c0010t0003g0140 a0001c0024t0087g0127 a0002c0004t0008g0111 a0002c0004t0008g0135 a0002c0004t0011g0110 a0002c0004t0024g0131 a0002c0004t0047g0129 a0008c0017t0005g0126	26	218	0.1193	53	c.-42 others(64): Show c.-4254_-4253insAGAGGAGGAGAAGAGAGAGAATGAGAAGGAGGAT AATGAGAGGAGGAGGAAGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4105		chr17	TogoVar
PKD1_chr16_2083708_2140898	2104174	C C	CAGGGGAA others(46): Show CAGGGGAAAGGGAGGGGAAGGGGAAAGGGAGGGGAAGGGGGATAAGGGAG GGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0005 a0008c0025t0005	a0008c0025t0005g0077 a0008c0025t0005g0077	1	216	0.0046	53	c.816 others(70): Show c.8162-280_8162-279insTCCCCTCCCTTATCCCCCTTCCCCTCCC TTTCCCCTTCCCCTCCCTTTCCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(46): Show GGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp1 HG01891.hp1 HG03098.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0220 a0004c0005t0001g0221	2	306	0.0065	53	c.349 others(72): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314979	G G	GGGAAGGG others(46): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	306	0.0033	53	c.349 others(72): Show c.349+14231_349+14232insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0286 a0001c0001t0019g0286	1	362	0.0028	53	c.-57 others(72): Show c.-57+12741_-57+12742insAAAAAAAAAAATATATATATATATAT ATATATATATATATATATATATATATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP3_chr11_389209_409908	401975	C C	CGCTCACC others(46): Show CGCTCACCCCCGACCCGCTCACCCCCGACCCCGCTCACCCGGGCCCCGCT CACA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	216	0.0046	53	c.173 others(72): Show c.1738-1103_1738-1102insGCTCACCCCCGACCCGCTCACCCCCG ACCCCGCTCACCCGGGCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLD5_chr1_242077986_242529697	242521617	A A	ATAATTAT others(46): Show ATAATTATTAATTTATTTTTTCAACATCATAAAAAAGTGGCCATCCATTT GATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01168.hp2 others(25): Show HG00738.hp2 HG01074.hp1 HG01168.hp2 HG01496.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0011 a0001c0002t0022 others(12): Show a0001c0002t0003 a0001c0002t0011 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0058 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0069 a0001c0002t0070	a0001c0002t0003g0135 a0001c0002t0003g0138 a0001c0002t0003g0139 others(25): Show a0001c0002t0003g0135 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0011g0142 a0001c0002t0011g0153 a0001c0002t0011g0157 a0001c0002t0022g0134 a0001c0002t0022g0148 a0001c0002t0023g0155 a0001c0002t0024g0144 a0001c0002t0024g0150 a0001c0002t0058g0151 a0001c0002t0060g0136 a0001c0002t0061g0140 a0001c0002t0062g0141 a0001c0002t0064g0133 a0001c0002t0065g0132 a0001c0002t0066g0146 a0001c0002t0067g0149 a0001c0002t0069g0156 a0001c0002t0070g0137	28	188	0.1489	53	c.189 others(70): Show c.189+2418_189+2470dupAATCAAATGGATGGCCACTTTTTTATGA TGTTGAAAAAATAAATTAATAATTA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	97212	C C	CAAACCCC others(46): Show CAAACCCCTTACCTGCCATTCAGGCTCCAGATGATTTTCCTCATTCCGAA GTCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0132 a0002c0003t0002g0132	1	210	0.0048	53	c.45+ others(68): Show c.45+4951_45+5003dupCCATTCAGGCTCCAGATGATTTTCCTCATT CCGAAGTCAAAACCCCTTACCTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	97365	G G	GAAGTCAA others(46): Show GAAGTCAAAACCCCTTACCTGTCATTCAGGCTCCAGATGGTTTTCCTCAT TCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02622.hp2 others(15): Show HG02109.hp1 HG02145.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0009 a0016 others(3): Show a0001 a0009 a0016 a0017 a0029 a0032	a0001c0001 a0001c0007 a0001c0036 others(8): Show a0001c0001 a0001c0007 a0001c0036 a0001c0051 a0009c0012 a0009c0034 a0016c0018 a0017c0029 a0017c0030 a0029c0033 a0032c0058	a0001c0001t0032 a0001c0007t0008 a0001c0007t0109 others(12): Show a0001c0001t0032 a0001c0007t0008 a0001c0007t0109 a0001c0036t0077 a0001c0051t0078 a0009c0012t0033 a0009c0012t0114 a0009c0012t0115 a0009c0034t0033 a0016c0018t0003 a0016c0018t0034 a0017c0029t0112 a0017c0030t0039 a0029c0033t0042 a0032c0058t0040	a0001c0001t0032g0144 a0001c0007t0008g0143 a0001c0007t0008g0145 others(15): Show a0001c0001t0032g0144 a0001c0007t0008g0143 a0001c0007t0008g0145 a0001c0007t0008g0146 a0001c0007t0008g0150 a0001c0007t0109g0147 a0001c0036t0077g0149 a0001c0051t0078g0148 a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 a0009c0034t0033g0162 a0016c0018t0003g0005 a0016c0018t0034g0004 a0017c0029t0112g0155 a0017c0030t0039g0140 a0029c0033t0042g0163 a0032c0058t0040g0158	18	210	0.0857	53	c.45+ others(68): Show c.45+5126_45+5127insGGTTTTCCTCATTCCAAAGTCAAAACCCCT TACCTGTCATTCAGGCTCCAGAT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100356	A A	AAGACTGT others(46): Show AAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGG GGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0028 a0028	a0028c0040 a0028c0040	a0028c0040t0090 a0028c0040t0090	a0028c0040t0090g0127 a0028c0040t0090g0127	1	210	0.0048	53	c.45+ others(68): Show c.45+8096_45+8148dupTAATCCATATAAAGCCCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100451	C C	CCTGTAGG others(46): Show CCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAGA AAGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0011 a0011	a0011c0078 a0011c0078	a0011c0078t0059 a0011c0078t0059	a0011c0078t0059g0185 a0011c0078t0059g0185	1	210	0.0048	53	c.45+ others(68): Show c.45+8216_45+8217insTCTGGAGAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTAAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100451	C C	CCTGTAGG others(46): Show CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAGA AAGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp2 HG02145.hp2 others(9): Show HG01261.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02818.hp1 HG02818.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA19043.hp2	a0006 a0008 a0010 others(4): Show a0006 a0008 a0010 a0020 a0021 a0022 a0038	a0006c0073 a0008c0024 a0008c0025 others(7): Show a0006c0073 a0008c0024 a0008c0025 a0008c0079 a0010c0014 a0010c0069 a0020c0081 a0021c0026 a0022c0046 a0038c0080	a0006c0073t0020 a0008c0024t0021 a0008c0025t0069 others(8): Show a0006c0073t0020 a0008c0024t0021 a0008c0025t0069 a0008c0079t0068 a0010c0014t0019 a0010c0014t0055 a0010c0069t0019 a0020c0081t0064 a0021c0026t0060 a0022c0046t0047 a0038c0080t0043	a0006c0073t0020g0193 a0008c0024t0021g0175 a0008c0024t0021g0176 others(9): Show a0006c0073t0020g0193 a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0069g0174 a0008c0079t0068g0173 a0010c0014t0019g0205 a0010c0014t0055g0201 a0010c0069t0019g0204 a0020c0081t0064g0200 a0021c0026t0060g0169 a0022c0046t0047g0180 a0038c0080t0043g0177	12	210	0.0571	53	c.45+ others(68): Show c.45+8201_45+8202insTAATCCATATAAAGCTCTGGAGAAAGTCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100478	A A	AAATCCAT others(46): Show AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0029 a0029	a0029c0033 a0029c0033	a0029c0033t0042 a0029c0033t0042	a0029c0033t0042g0163 a0029c0033t0042g0163	1	210	0.0048	53	c.45+ others(68): Show c.45+8254_45+8255insTAATCCATATAAAGCCCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100531	A A	AAATCCAT others(46): Show AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG02258.hp1 others(1): Show HG00280.hp1 HG00741.hp1 HG02258.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0052 a0001c0001 a0001c0052	a0001c0001t0005 a0001c0001t0099 a0001c0052t0118 a0001c0001t0005 a0001c0001t0099 a0001c0052t0118	a0001c0001t0005g0090 a0001c0001t0005g0123 a0001c0001t0099g0089 others(1): Show a0001c0001t0005g0090 a0001c0001t0005g0123 a0001c0001t0099g0089 a0001c0052t0118g0121	4	210	0.0191	53	c.45+ others(68): Show c.45+8487_45+8539dupAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100816	G G	GAAAAGTC others(46): Show GAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0109 a0001c0002t0013g0109	1	210	0.0048	53	c.45+ others(68): Show c.45+8573_45+8625dupAAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100825	G G	GTAGGGGA others(46): Show GTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAG TCTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0132 a0002c0003t0002g0132	1	210	0.0048	53	c.45+ others(68): Show c.45+8601_45+8602insATAGGGGAGAGACTGTTGTGAGGTAAATCC ATATAAAGCCCTGGAAAAAGTCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100975	A A	AAAAAGCC others(46): Show AAAAAGCCTGTAGGGGAGAGACTGTTGTGACGTTAATCCATATAAAGCCC TGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0060 a0021c0026t0060	a0021c0026t0060g0169 a0021c0026t0060g0169	1	210	0.0048	53	c.45+ others(68): Show c.45+8704_45+8705insCCTGTAGGGGAGAGACTGTTGTGACGTTAA TCCATATAAAGCCCTGGGAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101008	A A	AAATCCAT others(46): Show AAATCCATATAAAGCCCTGGAAGAAGTCTGTAGGGGAGAGACTGTTGTGA GGTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0005t0070 a0002c0003t0002 a0002c0005t0070	a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0005t0070g0100 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0005t0070g0100	3	210	0.0143	53	c.45+ others(68): Show c.45+8753_45+8754insGAAGTCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101061	T T	TAATCCAT others(46): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(91): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18957.hp1 NA18957.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012 a0016 a0017 a0023 a0024 a0027 a0028 a0029 a0030 a0033 a0034	a0001c0001 a0001c0002 a0001c0016 others(27): Show a0001c0001 a0001c0002 a0001c0016 a0001c0035 a0001c0052 a0001c0061 a0002c0003 a0002c0005 a0002c0039 a0002c0057 a0003c0004 a0003c0009 a0003c0017 a0003c0056 a0004c0006 a0004c0054 a0005c0008 a0007c0010 a0007c0038 a0012c0013 a0016c0018 a0017c0030 a0023c0055 a0024c0042 a0027c0053 a0028c0040 a0029c0033 a0030c0047 a0033c0028 a0034c0059	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(75): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0073 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0099 a0001c0001t0102 a0001c0002t0001 a0001c0002t0007 a0001c0002t0013 a0001c0002t0022 a0001c0002t0025 a0001c0002t0082 a0001c0002t0086 a0001c0002t0101 a0001c0016t0005 a0001c0016t0025 a0001c0035t0030 a0001c0052t0118 a0001c0061t0001 a0002c0003t0002 a0002c0003t0066 a0002c0003t0071 a0002c0003t0124 a0002c0003t0128 a0002c0003t0130 a0002c0003t0132 a0002c0003t0135 a0002c0003t0136 a0002c0005t0003 a0002c0005t0072 a0002c0039t0009 a0002c0057t0003 a0003c0004t0007 a0003c0004t0016 a0003c0004t0028 a0003c0004t0105 a0003c0004t0108 a0003c0004t0116 a0003c0004t0117 a0003c0009t0017 a0003c0009t0119 a0003c0009t0120 a0003c0009t0121 a0003c0017t0016 a0003c0017t0074 a0003c0056t0017 a0004c0006t0002 a0004c0006t0003 a0004c0006t0065 a0004c0006t0134 a0004c0054t0034 a0005c0008t0111 a0007c0010t0005 a0007c0010t0080 a0007c0010t0095 a0007c0038t0013 a0012c0013t0133 a0016c0018t0003 a0016c0018t0034 a0017c0030t0039 a0023c0055t0029 a0024c0042t0006 a0027c0053t0107 a0028c0040t0090 a0029c0033t0042 a0030c0047t0131 a0033c0028t0088 a0034c0059t0001	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0142 others(91): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0005g0090 a0001c0001t0005g0123 a0001c0001t0006g0075 a0001c0001t0007g0056 a0001c0001t0014g0033 a0001c0001t0014g0115 a0001c0001t0014g0125 a0001c0001t0015g0022 a0001c0001t0015g0037 a0001c0001t0015g0131 a0001c0001t0027g0052 a0001c0001t0027g0053 a0001c0001t0030g0027 a0001c0001t0031g0111 a0001c0001t0031g0112 a0001c0001t0032g0094 a0001c0001t0073g0107 a0001c0001t0091g0120 a0001c0001t0092g0054 a0001c0001t0093g0105 a0001c0001t0099g0089 a0001c0001t0102g0057 a0001c0002t0001g0018 a0001c0002t0001g0032 a0001c0002t0001g0074 a0001c0002t0007g0060 a0001c0002t0007g0083 a0001c0002t0013g0109 a0001c0002t0022g0015 a0001c0002t0022g0138 a0001c0002t0025g0073 a0001c0002t0082g0126 a0001c0002t0086g0104 a0001c0002t0101g0068 a0001c0016t0005g0160 a0001c0016t0025g0152 a0001c0035t0030g0137 a0001c0052t0118g0121 a0001c0061t0001g0006 a0002c0003t0002g0132 a0002c0003t0066g0209 a0002c0003t0071g0095 a0002c0003t0124g0017 a0002c0003t0128g0029 a0002c0003t0130g0130 a0002c0003t0132g0028 a0002c0003t0135g0128 a0002c0003t0136g0071 a0002c0005t0003g0031 a0002c0005t0003g0096 a0002c0005t0003g0167 a0002c0005t0072g0153 a0002c0039t0009g0030 a0002c0057t0003g0026 a0003c0004t0007g0097 a0003c0004t0016g0133 a0003c0004t0028g0058 a0003c0004t0105g0081 a0003c0004t0108g0010 a0003c0004t0116g0103 a0003c0004t0117g0070 a0003c0009t0017g0088 a0003c0009t0119g0049 a0003c0009t0120g0013 a0003c0009t0121g0092 a0003c0017t0016g0110 a0003c0017t0074g0050 a0003c0056t0017g0080 a0004c0006t0002g0119 a0004c0006t0003g0047 a0004c0006t0065g0208 a0004c0006t0134g0011 a0004c0054t0034g0139 a0005c0008t0111g0091 a0007c0010t0005g0113 a0007c0010t0080g0117 a0007c0010t0095g0106 a0007c0038t0013g0102 a0012c0013t0133g0118 a0016c0018t0003g0005 a0016c0018t0034g0004 a0017c0030t0039g0140 a0023c0055t0029g0079 a0024c0042t0006g0012 a0027c0053t0107g0009 a0028c0040t0090g0127 a0029c0033t0042g0163 a0030c0047t0131g0067 a0033c0028t0088g0008 a0034c0059t0001g0114	94	210	0.4476	53	c.45+ others(68): Show c.45+8837_45+8838insAAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101081	A A	AAAAAGCC others(46): Show AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp2 HG02451.hp2 others(2): Show HG01261.hp2 HG02258.hp2 HG02451.hp2 HG03486.hp1 HG03579.hp2	a0006 a0010 a0020 a0006 a0010 a0020	a0006c0073 a0010c0014 a0010c0069 others(1): Show a0006c0073 a0010c0014 a0010c0069 a0020c0081	a0006c0073t0020 a0010c0014t0019 a0010c0014t0055 others(2): Show a0006c0073t0020 a0010c0014t0019 a0010c0014t0055 a0010c0069t0019 a0020c0081t0064	a0006c0073t0020g0193 a0010c0014t0019g0205 a0010c0014t0055g0201 others(2): Show a0006c0073t0020g0193 a0010c0014t0019g0205 a0010c0014t0055g0201 a0010c0069t0019g0204 a0020c0081t0064g0200	5	210	0.0238	53	c.45+ others(68): Show c.45+8810_45+8811insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGGAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101090	G G	GTAGGGGA others(46): Show GTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAG TCTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0026 a0026	a0026c0050 a0026c0050	a0026c0050t0009 a0026c0050t0009	a0026c0050t0009g0141 a0026c0050t0009g0141	1	210	0.0048	53	c.45+ others(68): Show c.45+8837_45+8838insAAATCCATATAAAGCCCTGGAAAAAGTCTA TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101167	T T	TAATCCAT others(46): Show TAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp1 HG01099.hp1 HG02622.hp1	a0011 a0011	a0011c0023 a0011c0078 a0011c0023 a0011c0078	a0011c0023t0041 a0011c0078t0059 a0011c0023t0041 a0011c0078t0059	a0011c0023t0041g0184 a0011c0078t0059g0185 a0011c0023t0041g0184 a0011c0078t0059g0185	2	210	0.0095	53	c.45+ others(68): Show c.45+8916_45+8917insCCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101392	C C	CCTGGAAA others(46): Show CCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAA AGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 NA18906.hp2 HG02451.hp1 HG03041.hp1 NA18906.hp2	a0013 a0013	a0013c0020 a0013c0067 a0013c0020 a0013c0067	a0013c0020t0050 a0013c0020t0052 a0013c0067t0046 a0013c0020t0050 a0013c0020t0052 a0013c0067t0046	a0013c0020t0050g0182 a0013c0020t0052g0183 a0013c0067t0046g0186 a0013c0020t0050g0182 a0013c0020t0052g0183 a0013c0067t0046g0186	3	210	0.0143	53	c.45+ others(68): Show c.45+9126_45+9127insTCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101430	A A	AAATCCAT others(46): Show AAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0045 a0008c0025t0045	a0008c0025t0045g0172 a0008c0025t0045g0172	1	210	0.0048	53	c.45+ others(68): Show c.45+9168_45+9169insTCTGGAAAAAGCCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101445	C C	CCTGGAAA others(46): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0044 a0011c0023t0044	a0011c0023t0044g0187 a0011c0023t0044g0187	1	210	0.0048	53	c.45+ others(68): Show c.45+9170_45+9171insTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101445	C C	CCTGGAAA others(46): Show CCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02451.hp2 HG01261.hp2 HG02451.hp2	a0006 a0010 a0006 a0010	a0006c0073 a0010c0014 a0006c0073 a0010c0014	a0006c0073t0020 a0010c0014t0055 a0006c0073t0020 a0010c0014t0055	a0006c0073t0020g0193 a0010c0014t0055g0201 a0006c0073t0020g0193 a0010c0014t0055g0201	2	210	0.0095	53	c.45+ others(68): Show c.45+9170_45+9171insTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101498	C C	CCTGGAAA others(46): Show CCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0019 a0010c0014t0019	a0010c0014t0019g0205 a0010c0014t0019g0205	1	210	0.0048	53	c.45+ others(68): Show c.45+9226_45+9227insAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101503	G G	GAAAAGTC others(46): Show GAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 HG02145.hp1 HG03579.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0003 a0016c0018t0034 a0016c0018t0003 a0016c0018t0034	a0016c0018t0003g0005 a0016c0018t0034g0004 a0016c0018t0003g0005 a0016c0018t0034g0004	2	210	0.0095	53	c.45+ others(68): Show c.45+9232_45+9233insTCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101536	T T	TAATCCAT others(46): Show TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 NA18906.hp2 HG02451.hp1 HG03041.hp1 NA18906.hp2	a0013 a0013	a0013c0020 a0013c0067 a0013c0020 a0013c0067	a0013c0020t0050 a0013c0020t0052 a0013c0067t0046 a0013c0020t0050 a0013c0020t0052 a0013c0067t0046	a0013c0020t0050g0182 a0013c0020t0052g0183 a0013c0067t0046g0186 a0013c0020t0050g0182 a0013c0020t0052g0183 a0013c0067t0046g0186	3	210	0.0143	53	c.45+ others(68): Show c.45+9274_45+9275insCCTGGAAAAAGCCTGTAGGGGAGAGACTGT TGTGAGGTAAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101551	T T	TCTGGAAA others(46): Show TCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0069 a0010c0069	a0010c0069t0019 a0010c0069t0019	a0010c0069t0019g0204 a0010c0069t0019g0204	1	210	0.0048	53	c.45+ others(68): Show c.45+9285_45+9286insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101556	A A	AAAAAGTC others(46): Show AAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03453.hp1 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0025 a0001c0016t0005 a0001c0016t0025	a0001c0016t0005g0160 a0001c0016t0025g0152 a0001c0016t0005g0160 a0001c0016t0025g0152	2	210	0.0095	53	c.45+ others(68): Show c.45+9313_45+9365dupAAATCCATATAAAGCCCTGGGAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101562	T T	TCTGTAGG others(46): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAACCCTGGAAA AAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0010 a0019c0019t0010	a0019c0019t0010g0164 a0019c0019t0010g0164	1	210	0.0048	53	c.45+ others(68): Show c.45+9312_45+9313insTAATCCATATAAAACCCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101668	C C	CCTGTAGG others(46): Show CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0048 a0001c0011t0048	a0001c0011t0048g0179 a0001c0011t0048g0179	1	210	0.0048	53	c.45+ others(68): Show c.45+9418_45+9419insTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101695	A A	AAATCCAT others(46): Show AAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0077 a0001c0036t0077	a0001c0036t0077g0149 a0001c0036t0077g0149	1	210	0.0048	53	c.45+ others(68): Show c.45+9433_45+9434insTCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101710	C C	CCTGGAAA others(46): Show CCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAA AGCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0044 a0011c0023t0044	a0011c0023t0044g0187 a0011c0023t0044g0187	1	210	0.0048	53	c.45+ others(68): Show c.45+9444_45+9445insTCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101763	C C	CCTGGAAA others(46): Show CCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0019 a0010c0014t0019	a0010c0014t0019g0205 a0010c0014t0019g0205	1	210	0.0048	53	c.45+ others(68): Show c.45+9497_45+9498insTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101830	A A	ATAGGGGA others(46): Show ATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG CCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0034 a0016c0018t0034	a0016c0018t0034g0004 a0016c0018t0034g0004	1	210	0.0048	53	c.45+ others(68): Show c.45+9603_45+9604insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101874	A A	AAAAAGCC others(46): Show AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0055 a0010c0014t0055	a0010c0014t0055g0201 a0010c0014t0055g0201	1	210	0.0048	53	c.45+ others(68): Show c.45+9603_45+9604insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGGAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101883	G G	GTAGGGGA others(46): Show GTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAG TCTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG06807.hp2 HG02723.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0024 a0001c0007t0110 a0001c0002t0024 a0001c0007t0110	a0001c0002t0024g0024 a0001c0007t0110g0151 a0001c0002t0024g0024 a0001c0007t0110g0151	2	210	0.0095	53	c.45+ others(68): Show c.45+9631_45+9683dupAAATCCATATAAAGCCCTGGAAAAAGTCTA TAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	102066	A A	AAATCCAT others(46): Show AAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0035 a0035	a0035c0060 a0035c0060	a0035c0060t0020 a0035c0060t0020	a0035c0060t0020g0188 a0035c0060t0020g0188	1	210	0.0048	53	c.45+ others(68): Show c.45+9804_45+9805insTCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	102095	A A	ATAGGGGA others(46): Show ATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG CCTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0101 a0001c0002t0101	a0001c0002t0101g0068 a0001c0002t0101g0068	1	210	0.0048	53	c.45+ others(68): Show c.45+9834_45+9886dupTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGCCTGTAGGGGAGAGACTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	102095	A A	ATAGGGGA others(46): Show ATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG TCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0118 a0001c0052t0118	a0001c0052t0118g0121 a0001c0052t0118g0121	1	210	0.0048	53	c.45+ others(68): Show c.45+9868_45+9869insTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	164682	G G	GGCGGGGC others(46): Show GGCGGGGCTCACACTAATGCTGTGACGGAGCAGAGCTCACACTAATGCTC TGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0008 a0008	a0008c0079 a0008c0079	a0008c0079t0068 a0008c0079t0068	a0008c0079t0068g0173 a0008c0079t0068g0173	1	210	0.0048	53	c.347 others(72): Show c.3476+1135_3476+1136insCGGGGCTCACACTAATGCTGTGACGG AGCAGAGCTCACACTAATGCTCTGACG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP1_chr5_55419854_55539964	55512512	A A	AGAGAGAG others(46): Show AGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	294	0.0034	53	c.58+ others(70): Show c.58+22059_58+22060insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTCTCTCTCTCTCTC	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	1/5			chr5	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAA AGAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	336	0.0030	53	c.140 others(72): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCTTTCCTTCTTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132562956	T T	TCCCTCCT others(46): Show TCCCTCCTCCTCCTCTCCCTCCTCTCCTCTCCCTCCTCCTCTCCCTCCTC CTCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	88	0.0114	53	c.-87 others(72): Show c.-87+13465_-87+13466insGGAGGAGGAGGGAGAGGAGGAGGGAG AGGAGAGGAGGGAGAGGAGGAGGAGGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
POLK_chr5_75506891_75614991	75612322	C C	CCCCCGCC others(46): Show CCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGC CCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG06807.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG06807.hp1 NA18948.hp1 NA18968.hp2 NA19002.hp1 NA19009.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0042 a0001c0002t0119 a0001c0002t0004 a0001c0002t0042 a0001c0002t0119	a0001c0002t0004g0005 a0001c0002t0004g0313 a0001c0002t0004g0315 others(7): Show a0001c0002t0004g0005 a0001c0002t0004g0313 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0318 a0001c0002t0004g0320 a0001c0002t0004g0328 a0001c0002t0004g0331 a0001c0002t0042g0006 a0001c0002t0119g0339	11	356	0.0309	53	c.14 others(66): Show c.14304_*14305insCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGCC CCGCCCCCGCCCTCCGCCCCG	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding		2332		chr5	TogoVar
POLR1B_chr2_112537465_112584818	112538174	T T	TGGTAAGG others(46): Show TGGTAAGGAATTAACACCAATATTTCATAGAGTCTCCTAAAAAATAGAAG AGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	384	0.0026	53	c.-43 others(64): Show c.-4321_-4320insGGTAAGGAATTAACACCAATATTTCATAGAGTCT CCTAAAAAATAGAAGAGAA	POLR1B	ENSG00000125630.16	transcript	ENST00000263331.10	protein_coding		4290		chr2	TogoVar
POMT1_chr9_131497918_131528799	131515794	A A	ACACTTCC others(46): Show ACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACAC GGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0002 a0007c0019t0002	a0007c0019t0002g0184 a0007c0019t0002g0184	1	334	0.0030	53	c.127 others(70): Show c.1272+285_1272+337dupCGGAGCACTTCCTCTAACACAGGACACT TCCTCACACGGAGCACTTCCTCACA	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POR_chr7_75910155_75991855	75988712	G G	GGAAGGCC others(46): Show GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGAAGGCCGGGTAGGGGGGTGG AGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG00642.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0143 a0002c0001t0002g0144 a0002c0001t0002g0143 a0002c0001t0002g0144	2	278	0.0072	53	c.22 others(64): Show c.2231_*2232insGAAGGCCGGGTGGGGGGGTGGAGGGGAAGAAGGC CGGGTAGGGGGGTGGAGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1858		chr7	TogoVar

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