Joint Open Genome and Omics Platform (JoGo)

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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

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUP93_chr16_56725129_56855286	56808256	T T	TATATAGT others(237): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	378	0.0027	244	c.489 others(261): Show c.489+2634_489+2635insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(237): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATGTAACTATATAAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	378	0.0027	244	c.489 others(261): Show c.489+2759_489+2760insATAACTATATAAAATATATAGTTATATA ACTATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATATAGTTATGTAACTA TATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OLFM1_chr9_135082668_135126180	135124531	G G	GGAAGGAA others(237): Show GGAAGGAAGGAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGA AGGAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAA AGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	360	0.0028	244	c.43 others(255): Show c.4353_*4354insGAAGGAAGGAAGGAAGGGGAAGGGGAAGGGGAAG GGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAA AGAAGAAAGAAAGAAAGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAA GAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAGAGAGAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGA AGGAAGGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3352		chr9	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(237): Show TTATATCTATATTTATATCTATATTTATAGATATATAGATTTATATATAT AAATATAGATATATCTATATTTATATATATTTATAAATATAGATATATCT ATATTTATATATATAAATATAGATATATCTATATATATATATATAAATAT AGATATATCTATATATATATTTATAAATATAGATATATCTATATATATAT ATAAATATAGATATATCTATATTTATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18906.hp1 HG03098.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0020 a0002c0003t0001g0021	2	418	0.0048	244	c.553 others(259): Show c.553-997_553-996insCTATATTTATAGATATATAGATTTATATAT ATAAATATAGATATATCTATATTTATATATATTTATAAATATAGATATAT CTATATTTATATATATAAATATAGATATATCTATATATATATATATAAAT ATAGATATATCTATATATATATTTATAAATATAGATATATCTATATATAT ATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR2T12_chr1_248285139_248308424	248306453	C C	CCCTGAGG others(237): Show CCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAGC CGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGG AGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCCCCTGAGGAC TGGAGCCGCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGG ACTGGAACCCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0017 a0004c0004t0011g0017	1	406	0.0025	244	c.-32 others(255): Show c.-3298_-3297insCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAG GGGGTTCCAGTCCTCAGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTC AGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGCGGCTCCAGTCC TCAGGGCGGCTCCAGTCCTCAGGCGGCTCCTGTCCTCAGGGCGGCTCCTG TCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCTGGGGGCTCC AGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3030		chr1	TogoVar
OR51T1_chr11_4876900_4887883	4886717	C C	CAAAAGAC others(237): Show CAAAAGACTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA19084.hp1 NA18940.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	426	0.0047	244	c.38 others(255): Show c.3834_*3835insAAAAGACTTTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAG	OR51T1	ENSG00000176900.2	transcript	ENST00000322049.1	protein_coding		3835		chr11	TogoVar
OR6C2_chr12_55439076_55458347	55446372	T T	TTTTTTTT others(237): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18993.hp2 HG02080.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	454	0.0044	244	c.-88 others(263): Show c.-888+2213_-888+2214insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCC	OR6C2	ENSG00000179695.3	transcript	ENST00000641202.1	protein_coding	1/1			chr12	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(237): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGCG GGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	302	0.0033	244	c.155 others(261): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(237): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGCG GGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19009.hp2 NA19060.hp2 NA18973.hp1 NA19009.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0262 a0001c0001t0003g0281 a0001c0001t0003g0248 a0001c0001t0003g0262 a0001c0001t0003g0281	3	302	0.0099	244	c.155 others(261): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TGCCTCCC others(237): Show TGCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCTCCC CCTGCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCCC CCTCCTCCCCCCTCCTCCCCTCTCCCCTCCTCCCCTCCTCTCCCCCTCCC CTCCCCTCCTCTCCCCCTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTC CACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	308	0.0033	244	c.226 others(263): Show c.2262+7524_2262+7525insGCCTCCCCCCTCCCCTCCCCCTCCCT CCCCCTCCCCTCCCCCTCCTCCCCCTGCCCTCCCCCTCCTCCCCTCCCCC TCCTCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCTCTCCCC TCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCCCCTCCCCTCCCC TCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19			chr10	TogoVar
PAM16_chr16_4335251_4356321	4344496	C C	CCGTGAGA others(237): Show CCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGG GACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGATTGTGTGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGATTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp2 HG02109.hp1 others(1): Show HG02015.hp2 HG02083.hp2 HG02109.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0120 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0120	4	367	0.0109	244	c.4-1 others(257): Show c.4-1206_4-1205insCAATCCTCTCACGGAACCCCCTCCTCTCACGG AACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTC ACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCT CACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTC CTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCC CCTCCTCTCACG	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PCBP3_chr21_45638725_45947450	45815254	A A	AGTGATGA others(237): Show AGTGATGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTG AGTGATGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGATGAGTGAGTGGTG AGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGAT GAGTGGTGAGTGGTGAGTGTTGAGTGAGTGATGAGTGATGGGTGAGTGGT GAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02027.hp2 others(8): Show HG01928.hp2 HG01943.hp1 HG02027.hp2 HG02080.hp1 HG02129.hp1 NA18940.hp2 NA18951.hp2 NA18967.hp1 NA19002.hp2 NA19005.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0037 others(8): Show a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0021g0085	11	292	0.0377	244	c.-12 others(265): Show c.-125-34703_-125-34702insTGAGTGGTGAGTGAGTGGTGAGTG ATGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGAGTGGTGAGTG GTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGAGTGGTGAGTGATG AGTGAGTGGTGAGTGAGTGATGAGTGGTGAGTGGTGAGTGTTGAGTGAGT GATGAGTGATGGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGT GAGTGGTGAGTGAGTGGTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54332373	T T	TTATTATA others(237): Show TTATTATATATAATATAATAAAATCTATATTATATATTATTATATATAAT ATAATAAAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATTATATATAAAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATGATATATAATATAGTATAATC TATATTATATATTATTATGATATATAATATAATCTATATTATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0033 a0003c0003t0003g0033	1	102	0.0098	244	c.595 others(261): Show c.595-2668_595-2667insTATATAATATAGATTATATTATATATCA TAATAATATATAATATAGATTATACTATATTATATATCATAATAATATAT AATATAGATTATATTATATTATATATAATAATATATAATATAGATTATAT TTTATATATAATATAATATAGATTATATTATATTATATATAATAATATAT AATATAGATTTTATTATATTATATATAATAATATATAATATAGATTTTAT TATATTATATATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332373	T T	TTATTATA others(237): Show TTATTATATATAATATAATAAAATCTATATTATATATTATTATATATAAT ATAATAAAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATTATATATAAAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATGATATATAATATAGTATAATC TATATTATATATTATTATGATATATAATATAATCTATATTATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0030 a0003c0003t0001g0030	1	94	0.0106	244	c.595 others(261): Show c.595-2668_595-2667insTATATAATATAGATTATATTATATATCA TAATAATATATAATATAGATTATACTATATTATATATCATAATAATATAT AATATAGATTATATTATATTATATATAATAATATATAATATAGATTATAT TTTATATATAATATAATATAGATTATATTATATTATATATAATAATATAT AATATAGATTTTATTATATTATATATAATAATATATAATATAGATTTTAT TATATTATATATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(237): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	244	c.-26 others(255): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(237): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18983.hp1 HG02074.hp2 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	2	436	0.0046	244	c.-26 others(255): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(237): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	436	0.0023	244	c.-26 others(255): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(237): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	436	0.0023	244	c.-26 others(255): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(237): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC TCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01358.hp1 HG01975.hp2 others(17): Show HG00621.hp2 HG01358.hp1 HG01975.hp2 HG02055.hp1 HG02056.hp2 HG02572.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03704.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19074.hp2 NA19091.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0001c0004 a0001c0007 others(4): Show a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0009c0041	a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 others(10): Show a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0007t0001 a0001c0007t0005 a0001c0010t0003 a0001c0012t0001 a0001c0012t0002 a0001c0013t0004 a0009c0041t0001	a0001c0003t0001g0048 a0001c0003t0001g0127 a0001c0003t0001g0133 others(17): Show a0001c0003t0001g0048 a0001c0003t0001g0127 a0001c0003t0001g0133 a0001c0003t0001g0142 a0001c0003t0007g0141 a0001c0004t0001g0065 a0001c0004t0001g0128 a0001c0004t0001g0134 a0001c0004t0002g0104 a0001c0004t0004g0042 a0001c0004t0004g0131 a0001c0004t0011g0125 a0001c0007t0001g0051 a0001c0007t0001g0057 a0001c0007t0005g0088 a0001c0010t0003g0291 a0001c0012t0001g0056 a0001c0012t0002g0124 a0001c0013t0004g0132 a0009c0041t0001g0085	20	336	0.0595	244	c.-37 others(255): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATG GGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGG GGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(237): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTCCCCTGC CCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCC TCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0061 a0001c0003t0005g0061	1	336	0.0030	244	c.-37 others(255): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PERM1_chr1_970198_987093	976911	C C	CCCCGGGA others(237): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCG GGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACCG ACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTC CCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0002 a0003c0026t0002	a0003c0026t0002g0251 a0003c0026t0002g0251	1	408	0.0025	244	c.215 others(261): Show c.2150-288_2150-287insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCG GGAGGCGGTTCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401360	C C	CTCCCTCC others(237): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCC CTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCC TCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCT CCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCT CCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04204.hp2 HG02602.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0098 a0001c0001t0005g0040 a0001c0001t0005g0098	2	358	0.0056	244	c.44 others(255): Show c.4405_*4406insAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGG AGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGA GGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAA GGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGG GAGGGAAGGAGGGAGGAGGAGGGAGGGAAGGAGGGAGGAGGAGGGAGGAG GAGGGAGGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2613		chr1	TogoVar
PGAP6_chr16_365788_386978	378520	A A	ATCGCCAC others(237): Show ATCGCCACCCGCACTGCCATCGCCACCCCGCACTGCCATCGCCACCCTGA CTGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCCACC CTGACTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGCCATCGC CACCCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCC ATCGCCACCCCGCACTGCCATCGCCACCCACACTGCCATCGCCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0002 a0015c0024t0002	a0015c0024t0002g0062 a0015c0024t0002g0062	1	376	0.0027	244	c.122 others(259): Show c.122-673_122-672insGTGGCGATGGCAGTGTGGGTGGCGATGGCA GTGCGGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGA TGGCAGTGCGGGGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGT GGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGT GGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGGTGGCGATGGC AGTGCGGGTGGCGA	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGGHG_chr11_284126_301107	287586	C C	CAGCGGAG others(237): Show CAGCGGAGTAGGGGAGGGGGAGGAGATGAGGTCAGGGAACCCAGGAAGGT GCAGGAGGGGGTTTGCGGGTGGAGCTTGCGTGCTTGGAAAGCTCCAGAAG CAGCAAGGAAGCCAGGTAGCCGCAGCGGAGTAGGGGATGGGGAGGAGATA AGGTCAGGGAACCCAGGCAGGTGCAGGAGGGGGTTTGCGGGTGGAGCTTG CGTGCTTGGAAAGTTCCAGAAGCAGCAAGGAAGCCAGGTAGCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(25): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG02698.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0012 a0001c0004 a0001c0005 a0001c0012	a0001c0004t0005 a0001c0005t0005 a0001c0005t0009 others(1): Show a0001c0004t0005 a0001c0005t0005 a0001c0005t0009 a0001c0012t0001	a0001c0004t0005g0004 a0001c0005t0005g0004 a0001c0005t0009g0004 others(1): Show a0001c0004t0005g0004 a0001c0005t0005g0004 a0001c0005t0009g0004 a0001c0012t0001g0012	28	450	0.0622	244	c.-16 others(255): Show c.-1667_-1666insAGCGGAGTAGGGGAGGGGGAGGAGATGAGGTCAG GGAACCCAGGAAGGTGCAGGAGGGGGTTTGCGGGTGGAGCTTGCGTGCTT GGAAAGCTCCAGAAGCAGCAAGGAAGCCAGGTAGCCGCAGCGGAGTAGGG GATGGGGAGGAGATAAGGTCAGGGAACCCAGGCAGGTGCAGGAGGGGGTT TGCGGGTGGAGCTTGCGTGCTTGGAAAGTTCCAGAAGCAGCAAGGAAGCC AGGTAGCCGA	PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding		1539		chr11	TogoVar
PIGZ_chr3_196941356_196973833	196973806	C C	CGCCGCCC others(237): Show CGCCGCCCCGTCTGGGATGTGAGGAGCGCCTCTTCCCTGCCGCGACGCCG TCTGGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGT GAGGAGCGTCTCTGCCCGGCCGCCCAACGTCTGAGATGTGGGGAGCGCCT CTGCCCCGCCGCCCCGTCTGGGAGGTGAGGAGCGTCTCCGCCCGGCAGCC GCCCTGTCCCGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0060 a0006c0013t0001g0060	1	424	0.0024	244	c.-51 others(255): Show c.-5121_-5120insTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTC CGGGACAGGGCGGCTGCCGGGCGGAGACGCTCCTCACCTCCCAGACGGGG CGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGTTGGGCGGCCGGGCAG AGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCT CACCTCCCAGACGGCGTCGCGGCAGGGAAGAGGCGCTCCTCACATCCCAG ACGGGGCGGC	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4974		chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(237): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG02004.hp1 others(5): Show HG01074.hp2 HG01106.hp1 HG02004.hp1 NA18944.hp1 NA18948.hp2 NA18986.hp2 NA19009.hp2 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0028 others(5): Show a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0073 a0001c0002t0001g0107	8	250	0.0320	244	c.309 others(263): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTGCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(237): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0100 a0001c0007t0100	a0001c0007t0100g0025 a0001c0007t0100g0025	1	210	0.0048	244	c.45+ others(255): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976911	C C	CCCCGGGA others(237): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCG GGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACCG ACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTC CCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0114 a0001c0007t0002g0114	1	422	0.0024	244	c.23 others(255): Show c.2336_*2337insCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCT CCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAAC CGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAAT CCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCAC GACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1047		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160945043	T T	TATTATAT others(237): Show TATTATATATAACTATATATAACATATATTATATATAACTATATATAACA TATATTATATATAACTATATATAACATATATTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAAC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19072.hp2 NA18982.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0027 a0001c0001t0011g0206 a0001c0001t0011g0027 a0001c0001t0011g0206	2	206	0.0097	244	c.400 others(263): Show c.400-16691_400-16690insTATATATAACTATATATAACATATAT TATATATAACTATATATAACATATATTATATATAACTATATATAACATAT ATTATATATAACTATATATAACATGTTATATATAACTATATATAACATGT TATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTA TATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATA TATAACTATATATAACAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R12C_chr19_55085918_55122637	55096800	C C	CGTCTTCG others(237): Show CGTCTTCGCCCCTTCCCCGCGCAGTTCACCACCGTCTTCGCCCCTTCCCC GCGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCAGTTCACCACCGTCTT CACCCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAGTTCA CCACCGTCTTCACCCCTTCCCTGCAGTTCACCACCGTCTTCACCCCTTCC CCGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAGTTCACCACT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18967.hp2 NA18970.hp2 NA18959.hp2 NA18967.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0268 a0001c0001t0001g0039 a0001c0001t0001g0268	3	390	0.0077	244	c.952 others(259): Show c.952-466_952-465insAGTGGTGAACTGCAGGGAAGGGGTGAAGAC GGTGGTGAACTGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCAGGGAAG GGGTGAAGACGGTGGTGAACTGCAGGGAAGGGGTGAAGACGGTGGTGAAC TGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCGGGGAAGGGGCGAAGAC GGTGGTGAACTGCGCGGGGAAGGGGCGAAGACGGTGGTGAACTGCGCGGG GAAGGGGCGAAGAC	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(237): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCT TTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	244	0.0041	244	c.467 others(257): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(237): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCT TTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02083.hp2 HG01099.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0193 a0001c0002t0002g0107 a0001c0002t0002g0193	2	244	0.0082	244	c.467 others(257): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(237): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCT TTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	244	0.0041	244	c.467 others(257): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(237): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCC GGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGG TCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGC CTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02895.hp1 others(10): Show HG01109.hp1 HG02055.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03579.hp1 HG03654.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0008 others(3): Show a0001c0001 a0001c0004 a0001c0008 a0001c0013 a0001c0017 a0002c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 a0001c0001t0034 a0001c0001t0043 a0001c0004t0025 a0001c0004t0081 a0001c0008t0040 a0001c0013t0001 a0001c0017t0054 a0002c0007t0024	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0150 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0150 a0001c0001t0007g0054 a0001c0001t0028g0111 a0001c0001t0034g0075 a0001c0001t0043g0060 a0001c0004t0025g0205 a0001c0004t0081g0031 a0001c0008t0040g0021 a0001c0013t0001g0104 a0001c0017t0054g0134 a0002c0007t0024g0070	13	210	0.0619	244	c.388 others(263): Show c.388-28664_388-28663insCACGGGGTCCAGGAGAACAGGGCCTC CAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAG AACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACG GGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGG CAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTC CCGGGGACAGGCAAGGCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3299477	G G	GTGGCTGT others(237): Show GTGGCTGTGATGTTTCAGATCCCAGTCGTGGTGACTCTGCCCTTGTTGAA GATGCTATGCTGTGGCTGTGATGTTTCAGATCCCAGTCATGGTGACTCTG CCCTTGTTGAAGATGCTATGCTGTGGCCGTGATGTTTCCGATCCCAGTCG TGGTGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCATGATGTTTCC GATCCCAGTCGTGGTGACTCTGCCCTGGTTGAAGATGCTATGCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02622.hp1 others(2): Show HG01109.hp1 HG01884.hp2 HG02622.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0017 a0001c0001 a0001c0008 a0001c0017	a0001c0001t0001 a0001c0001t0004 a0001c0008t0040 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0008t0040 a0001c0017t0054	a0001c0001t0001g0029 a0001c0001t0001g0125 a0001c0001t0004g0046 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0125 a0001c0001t0004g0046 a0001c0008t0040g0021 a0001c0017t0054g0134	5	210	0.0238	244	c.438 others(263): Show c.438+55405_438+55406insTGTGATGTTTCAGATCCCAGTCATGG TGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCGTGATGTTTCCGAT CCCAGTCGTGGTGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCATG ATGTTTCCGATCCCAGTCGTGGTGACTCTGCCCTGGTTGAAGATGCTATG CTCTGGCTGTGATGTTTCAGATCCCAGTCGTGGTGACTCTGCCCTTGTTG AAGATGCTATGCTGTGGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162011146	A A	ATTTATAA others(237): Show ATTTATAATATATAATATATATTTATAATATATACTATATTATATATAAT ATAGTATATTTTATAATATATACTATATTATATATAATATAGTATATTTT ATAATATATACTATATTATATATAATATAGTATATATTATAAAATATACT ATATTATATATAGTATATTTTATAATATATACTATATTATATATAATATA GTATATTTTATAATATATACTATATTATATATAATATAGTATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG01192.hp2 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0017 a0002c0002t0009g0008 a0001c0001t0001g0017 a0002c0002t0009g0008	2	32	0.0625	244	c.619 others(263): Show c.619-37730_619-37729insAATATACTATATTATATATAATATAG TATATATTATAAAATATACTATATTATATATAATATAGTATATATTATAA AATATACTATATATAATATAGTATATTTTATAATATATACTATATTATAT ATAATATAGTATATATTATAAAATATACTATATTATATATAATATAGTAT ATATTATAAAATATACTATATTATATATAATATAGTATATATTATAAATA TATATTATATATTATAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRR5L_chr11_36291288_36470204	36351140	A A	ATATATTT others(237): Show ATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATA TATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATA TAAATATATATTTATAAATATATGTATTTTATATATAAATATATATTTAT AAATATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTT ATATATAAATATATATTTATAAATATATGTATTTTATATATAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0211 a0004c0009t0002g0212 a0004c0009t0002g0211 a0004c0009t0002g0212	2	272	0.0074	244	c.-12 others(265): Show c.-125-49840_-125-49839insGTATTTTATATATAAATATATATT TATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTAT TTTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATATA AATTATATTTATAAATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131420461	C C	CTCTCTTT others(237): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0149 a0004c0004t0005g0149	1	216	0.0046	244	c.-51 others(261): Show c.-51-9632_-51-9631insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGT TTCTTTCTTTCTTTGT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420477	C C	CTCTCTTT others(237): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp2 HG03209.hp2 HG03453.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0007	a0004c0009t0007g0133 a0004c0009t0007g0136 a0004c0009t0007g0133 a0004c0009t0007g0136	2	216	0.0093	244	c.-51 others(261): Show c.-51-9616_-51-9615insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGT TTCTTTCTTTCTTTGT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTBP1_chr19_792452_817312	816328	T T	TCCACCCA others(237): Show TCCACCCACCCACCCATCTACCCACCTACCCATCCATCCAACCGGTCCAT CCATCCATTCATCACCCAGCCATTCATTCATCTATCTATCCATCCATCCA TCATCCACCCATGCATCCAACAGTACCCATCCATCCATCCATCCATTCAT CATCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACTCATGCAC CCAATGGTACCATCCATCTATCCACCCACCCAACGGTCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0005 a0003c0025t0005	a0003c0025t0005g0063 a0003c0025t0005g0063	1	388	0.0026	244	c.55 others(255): Show c.5502_*5503insCCACCCACCCACCCATCTACCCACCTACCCATCC ATCCAACCGGTCCATCCATCCATTCATCACCCAGCCATTCATTCATCTAT CTATCCATCCATCCATCATCCACCCATGCATCCAACAGTACCCATCCATC CATCCATCCATTCATCATCCAGCCATTCATTCATCTATCCATCCATCCAT CATCCACTCATGCACCCAATGGTACCATCCATCTATCCACCCACCCAACG GTCCATCCAC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		4017		chr19	TogoVar
PTBP1_chr19_792452_817312	816328	T T	TCCACCCA others(237): Show TCCACCCACCCACCCCATCTACCCACCTACCCATCCATCCAACCGTCCAT CCATCCATTCATCACCCAGCCATTCATTCATCTATCTATCCATCCATCCA TCATCCACCCATGCATCCAACAGTACCCATCCATCCATCCATCCATTCAT CATCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACTCATGCAC CCAATGGTACCATCCATCTATCCACCCACCCAACGGTCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	388	0.0026	244	c.55 others(255): Show c.5502_*5503insCCACCCACCCACCCCATCTACCCACCTACCCATC CATCCAACCGTCCATCCATCCATTCATCACCCAGCCATTCATTCATCTAT CTATCCATCCATCCATCATCCACCCATGCATCCAACAGTACCCATCCATC CATCCATCCATTCATCATCCAGCCATTCATTCATCTATCCATCCATCCAT CATCCACTCATGCACCCAATGGTACCATCCATCTATCCACCCACCCAACG GTCCATCCAC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		4017		chr19	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(237): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATATACGTATATATATATACGTATATATATACGTATAT ATATATACGTATATATATATACGTATATATATACGTATATATATATACGT ATATATATACGTATATATATACGTATATATATATACGTATATATATATAC GTATATATATACGTATATATATATACGTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	456	0.0022	244	c.524 others(261): Show c.524+2046_524+2047insTATACGTATATATATATACGTATATATA TATACGTATATATATACGTATATATATATACGTATATATATATACGTATA TATATACGTATATATATACGTATATATATATACGTATATATATACGTATA TATATATACGTATATATATATACGTATATATATACGTATATATATATACG TATATATATATACGTATATATATATACGTATATATATACGTATATATATA TACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PXDN_chr2_1626887_1749515	1679630	G G	GTGTGTGT others(237): Show GTGTGTGTGTCTATAAATGGTGTGTGTGTAAATGGTGTGTGTGGATGGCA CATGTGTGTGGTCTGTGTCTGCATGTGTGTCTATAAATGCTGTGTGTGTG TGGATGGTGTGTGCGTGTATGTGCGTGTGTGTGGTTTGTATCTGCATGTG TGTGTCTATAAATGGTGTGTGTAAATGGTGTGTGTGTAAATGGTGTGTGT GTGGATGGTGTGTGTGTGTATGTGTGTGTGTGGTTTGTGTCTGCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19088.hp1 HG02965.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0104 a0001c0004t0004g0312 a0001c0001t0001g0104 a0001c0004t0004g0312	2	322	0.0062	244	c.730 others(259): Show c.730+562_730+563insTGCAGACACAAACCACACACACACATACAC ACACACACCATCCACACACACACCATTTACACACACACCATTTACACACA CCATTTATAGACACACACATGCAGATACAAACCACACACACGCACATACA CGCACACACCATCCACACACACACAGCATTTATAGACACACATGCAGACA CAGACCACACACATGTGCCATCCACACACACCATTTACACACACACCATT TATAGACACACACA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1679682	T T	TGTGTGTG others(237): Show TGTGTGTGGTCTGTGTCTGCATGTGTGTCTATAAATGCTGTGTGTGTGTG GATGGTGTGTGCGTGTATGTGCGTGTGTGTGGTTTGTATCTGCATGTGTG TGTCTATAAATGGTGTGTGTAAATGGTGTGTGTGTAAATGGTGTGTGTGT GGATGGTGTGTGTGTGTATGTGTGTGTGTGTGGTTTGTGTCTGCATGTGT GTGTCTATAAATGGTGTGTGTGTAAATGGTGTGTGTGGATGGCAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04228.hp1 HG03831.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0052 a0001c0002t0003g0148 a0001c0001t0001g0052 a0001c0002t0003g0148	2	322	0.0062	244	c.730 others(259): Show c.730+510_730+511insGTGCCATCCACACACACCATTTACACACAC ACCATTTATAGACACACACATGCAGACACAAACCACACACACACACATAC ACACACACACCATCCACACACACACCATTTACACACACACCATTTACACA CACCATTTATAGACACACACATGCAGATACAAACCACACACACGCACATA CACGCACACACCATCCACACACACACAGCATTTATAGACACACATGCAGA CACAGACCACACAC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1679823	T T	TGTGTGTG others(237): Show TGTGTGTGTGGATGGTGTGTGTGTGTATGTGTGTGTGTGTGGTTTGTGTC TGCATGTGTGTGTCTATAAATGGTGTGTGTGTAAATGGTGTGTGTGGATG GCACATGTGTGTGGTCTGTGTCTGCATGTGTGTCTATAAATGCTGTGTGT GTGTGGATGGTGTGTGCGTGTACGTGCGTGTGTGTGGTTTGTATCTGCAT GTGTGTGTCTATAAATGGTGTGTGTAAATGGTGTGTGTGTAAATG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0279 a0001c0002t0003g0279	1	322	0.0031	244	c.730 others(259): Show c.730+369_730+370insCATTTACACACACACCATTTACACACACCA TTTATAGACACACACATGCAGATACAAACCACACACACGCACGTACACGC ACACACCATCCACACACACACAGCATTTATAGACACACATGCAGACACAG ACCACACACATGTGCCATCCACACACACCATTTACACACACACCATTTAT AGACACACACATGCAGACACAAACCACACACACACACATACACACACACA CCATCCACACACAC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1679823	T T	TGTGTGTG others(237): Show TGTGTGTGTGGATGGTGTGTGTGTGTATGTGTGTGTGTGTGGTTTGTGTC TGCATGTGTGTGTCTATAAATGGTGTGTGTGTAAATGGTGTGTGTGGATG GCACATGTGTGTGGTCTGTGTCTGCATGTGTGTCTATAAATGCTGTGTGT GTGTGGATGGTGTGTGCGTGTATGTGCGTGTGTGTGGTTTGTATCTGCAT GTGTGTGTCTATAAATGGTGTGTGTAAATGGTGTGTGTGTAAATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp1 others(50): Show HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18955.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18986.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19062.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19090.hp1 NA19090.hp2	a0001 a0010 a0012 others(1): Show a0001 a0010 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0026 a0010c0031 a0012c0038 a0014c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0033 a0001c0002t0003 a0001c0003t0002 a0001c0026t0001 a0010c0031t0002 a0012c0038t0001 a0014c0048t0001	a0001c0001t0001g0044 a0001c0001t0001g0091 a0001c0001t0001g0093 others(50): Show a0001c0001t0001g0044 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0226 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0299 a0001c0001t0002g0031 a0001c0001t0002g0065 a0001c0001t0002g0094 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0003g0117 a0001c0001t0003g0241 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0009g0068 a0001c0001t0033g0185 a0001c0002t0003g0005 a0001c0002t0003g0020 a0001c0002t0003g0100 a0001c0002t0003g0183 a0001c0002t0003g0197 a0001c0002t0003g0296 a0001c0003t0002g0012 a0001c0003t0002g0317 a0001c0026t0001g0261 a0010c0031t0002g0120 a0012c0038t0001g0238 a0014c0048t0001g0322	53	322	0.1646	244	c.730 others(259): Show c.730+369_730+370insCATTTACACACACACCATTTACACACACCA TTTATAGACACACACATGCAGATACAAACCACACACACGCACATACACGC ACACACCATCCACACACACACAGCATTTATAGACACACATGCAGACACAG ACCACACACATGTGCCATCCACACACACCATTTACACACACACCATTTAT AGACACACACATGCAGACACAAACCACACACACACACATACACACACACA CCATCCACACACAC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1679851	G G	GTGTGTGT others(237): Show GTGTGTGTGTGTGGTTTGTGTCTGCATGTGTGTGTCTATAAATGGTGTGT GTGTAAATGGTGTGTGTGGATGGCACATGTGTGTGGTCTGTGTCTGCATG TGTGTCTATAAATGCTGTGTGTGTGTGGATGGTGTGTGCGTGTATGTGCG TGTGTGTGGTTTGTATCTGCATGTGTGTGTCTATAAATGGTGTGTGTAAA TGGTGTGTGTGTAAATGGTGTGTGTGTGGATGGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 NA20129.hp2 HG02280.hp1 HG02647.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0078 a0001c0001t0001g0292 a0001c0001t0022g0320 a0001c0001t0001g0078 a0001c0001t0001g0292 a0001c0001t0022g0320	3	322	0.0093	244	c.730 others(259): Show c.730+341_730+342insTACACACACACACCATCCACACACACACCA TTTACACACACACCATTTACACACACCATTTATAGACACACACATGCAGA TACAAACCACACACACGCACATACACGCACACACCATCCACACACACACA GCATTTATAGACACACATGCAGACACAGACCACACACATGTGCCATCCAC ACACACCATTTACACACACACCATTTATAGACACACACATGCAGACACAA ACCACACACACACA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	468053	T T	TCAGGGAG others(237): Show TCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG TGCAGGGAAGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGG GGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0039 a0001c0014t0039	a0001c0014t0039g0112 a0001c0014t0039g0112	1	295	0.0034	244	c.809 others(261): Show c.809-3242_809-3241insCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCAGGGAAGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(237): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTC ACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCAC CCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02615.hp1 others(6): Show HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0007 a0005c0017 a0001c0001 a0004c0007 a0005c0017	a0001c0001t0008 a0001c0001t0013 a0004c0007t0022 others(1): Show a0001c0001t0008 a0001c0001t0013 a0004c0007t0022 a0005c0017t0037	a0001c0001t0008g0294 a0001c0001t0013g0026 a0001c0001t0013g0027 others(6): Show a0001c0001t0008g0294 a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0033 a0001c0001t0013g0035 a0004c0007t0022g0186 a0005c0017t0037g0100	9	295	0.0305	244	c.139 others(263): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCC TCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCCTCACCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(237): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATATGCATACATATATATGCATATATATG CATATATATATGTATACATATATATGCATATATATGTATACATATATATG CATATATATATGCATACATATATATGCATACATATATGCATGCATATATA TATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	359	0.0028	244	c.351 others(261): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATATGCATACATATATATGC ATATATATGCATATATATATGTATACATATATATGCATATATATGTATAC ATATATATGCATATATATATGCATACATATATATGCATACATATATGCAT GCATATATATATGCATACATATATGCATGCATATATATATGCATACATAT ATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar

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