Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
POLRMT_chr19_612221_638537	621020	T T	TGCCGGGA others(227): Show TGCCGGGAGGGCGGGGAACGCGGGGGCCCTGGGGCAGGGGAGAAGGGAGA AGCAGGACGGGCAGGGGGCGCGGGGGAGGAGAGCGGGCGGGGGACGTGGG GGCGCCAGGGGAGGGGGAGGGGAGGAGGAAGATGGGCAGGGGGCGCCAGG GGAGGGGGAGGGGAGGAGGAAGACGGGCAGGGGGCGCGGGGGCGCCGGGG GAGGGCGCGGGGGCGCCGGGGGAGGGCGCGGGGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG04204.hp1 HG00280.hp2 HG04204.hp1	a0002 a0013 a0002 a0013	a0002c0007 a0013c0067 a0002c0007 a0013c0067	a0002c0007t0002 a0013c0067t0002 a0002c0007t0002 a0013c0067t0002	a0002c0007t0002g0219 a0013c0067t0002g0213 a0002c0007t0002g0219 a0013c0067t0002g0213	2	422	0.0047	234	c.264 others(249): Show c.2640+37_2640+38insGCCCCCGCGCCCTCCCCCGGCGCCCCCGCG CCCTCCCCCGGCGCCCCCGCGCCCCCTGCCCGTCTTCCTCCTCCCCTCCC CCTCCCCTGGCGCCCCCTGCCCATCTTCCTCCTCCCCTCCCCCTCCCCTG GCGCCCCCACGTCCCCCGCCCGCTCTCCTCCCCCGCGCCCCCTGCCCGTC CTGCTTCTCCCTTCTCCCCTGCCCCAGGGCCCCCGCGTTCCCCGCCCTCC CGGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
PRDM16_chr1_3064203_3443621	3168177	A A	ACCCCACC others(227): Show ACCCCACCCCTGCCTCCCAGCGCCTCTGTGGCATCGCCCCCGCTCCTGCC ATCCTCCCGCCCCACCCCTGCCTCCCAGCGCCTCTGTGACATTGCCCCCC TGCTCCTGCCATCCTCCCGCCCCACCCCTGCCTCCCAGTGCCTCTGTGGC ATCGCCCCCGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCAGCGCC TCTGTGGCATCGCCCCCGCTCCTGCCATCCTCCCG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	210	0.0048	234	c.38- others(251): Show c.38-17929_38-17928insCGCCTCTGTGGCATCGCCCCCGCTCCTG CCATCCTCCCGCCCCACCCCTGCCTCCCAGCGCCTCTGTGACATTGCCCC CCTGCTCCTGCCATCCTCCCGCCCCACCCCTGCCTCCCAGTGCCTCTGTG GCATCGCCCCCGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCAGCG CCTCTGTGGCATCGCCCCCGCTCCTGCCATCCTCCCGCCCCACCCCTGCC TCCCAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799577	G G	GTGGTGGT others(227): Show GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGATGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0028	1	178	0.0056	234	c.185 others(253): Show c.1855-4291_1855-4290insGTGGTGGTGGTGATGGTAATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGA TGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATGGTGGTGGTGGTGG TGATGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122595	G G	GGTCACAG others(227): Show GGTCACAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	286	0.0035	234	c.335 others(253): Show c.335-12664_335-12663insACAGCGATAGTTAGCGTCATGGTGGT GGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAG TTAGCGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122842	G G	GTCATGGC others(227): Show GTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGCATCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp1 HG00280.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0032 a0001c0003t0001g0138 a0001c0002t0002g0032 a0001c0003t0001g0138	2	286	0.0070	234	c.335 others(253): Show c.335-12419_335-12418insCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGCATCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123226	G G	GGTTAGGT others(227): Show GGTTAGGTTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	286	0.0035	234	c.335 others(253): Show c.335-12030_335-12029insTTCATGGTGGTAGTTAGGATCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124228	G G	GGTAGTTA others(227): Show GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGC ATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGCTGTAGTTAGGGTCATGGCGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	286	0.0035	234	c.335 others(253): Show c.335-11032_335-11031insAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGG CGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(227): Show AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAG CGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAG GGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02717.hp1 HG02970.hp1 others(2): Show HG00280.hp2 HG02717.hp1 HG02970.hp1 NA18956.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0162 a0001c0003t0001g0130 a0001c0003t0001g0138	5	286	0.0175	234	c.335 others(253): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCT ATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124353	C C	CTATAGTT others(227): Show CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAG TTGGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02293.hp1 HG03239.hp1 others(2): Show HG01123.hp1 HG02293.hp1 HG03239.hp1 NA19004.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0003c0005t0016	a0001c0001t0001g0050 a0001c0001t0001g0260 a0001c0002t0002g0032 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0260 a0001c0002t0002g0032 a0001c0003t0001g0196 a0003c0005t0016g0180	5	286	0.0175	234	c.335 others(253): Show c.335-10909_335-10908insTATAGTTGGGGTCATGGTGGTAGTTA GGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGC TGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTAGG GTCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(227): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTC TCCTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCC CCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCC CCTCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02965.hp1 HG03130.hp1 others(1): Show HG02723.hp2 HG02965.hp1 HG03130.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0001c0016 others(1): Show a0001c0001 a0001c0008 a0001c0016 a0004c0006	a0001c0001t0002 a0001c0008t0005 a0001c0016t0001 others(1): Show a0001c0001t0002 a0001c0008t0005 a0001c0016t0001 a0004c0006t0002	a0001c0001t0002g0093 a0001c0008t0005g0030 a0001c0016t0001g0059 others(1): Show a0001c0001t0002g0093 a0001c0008t0005g0030 a0001c0016t0001g0059 a0004c0006t0002g0081	4	94	0.0426	234	c.191 others(255): Show c.191-103924_191-103923insCTCTCCCCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCT CCTCTCCTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCT GTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCT CCCCCCTCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCCCCTCTCCTCTC CTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(227): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTGGTGG TGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0013	1	374	0.0027	234	c.-46 others(245): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGA TGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PXDN_chr2_1626887_1749515	1703924	G G	GGGGGACA others(227): Show GGGGGACAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGTAGGGGA CAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGTAGGGGACAACTC CAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAG GGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGCAAC TCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 NA19012.hp1 others(1): Show HG00408.hp1 HG00621.hp1 NA19012.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0066 a0001c0001t0002g0065 a0001c0002t0003g0074 others(1): Show a0001c0001t0001g0066 a0001c0001t0002g0065 a0001c0002t0003g0074 a0001c0002t0003g0279	4	322	0.0124	234	c.201 others(253): Show c.201-10791_201-10790insTACCTTCACCTGGAGTTGCCCTCCCT TCACCTGGAGTTGCCCCCCTTCACCTGGAGTTGCCCTCCCTTCACCTGGA GTTGCCCCCCTTCACCTGGAGTTGCCCTCCCTTCACCTGGAGTTGCCCCC CTTCACCTGGAGTTGTCCCCTACCTTCACCTGGAGTTGCCCCCCCTTCAC CTGGAGTTGTCCCCTACCTTCACCTGGAGTTGCCCTCCCTTCACCTGGAG TTGTCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132689020	G G	GCGGGTAA others(227): Show GCGGGTAAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGA CAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCCAGGG GAGCGGGTCCTCATGGCGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTG CGGGGCGCGGGTGAAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGG TGAAGACAGGGCGAGGGGAGCGGGTCTGCGGGGCA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19009.hp2 NA19078.hp1 NA18952.hp2 NA19009.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0168	3	350	0.0086	234	c.123 others(251): Show c.123-1213_123-1212insTGCGGGGCACGGGTGAAGACAGGGCCAG GGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCCAGGGGAGCGGGTC CTCATGGCGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCG GGTGAAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAG GGCGAGGGGAGCGGGTCTGCGGGGCACGGGTAAAGACAGGGCCAGGGGAG CGGGTC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(227): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02280.hp1 HG02135.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0091 a0001c0001t0006 a0001c0002t0091	a0001c0001t0006g0280 a0001c0002t0091g0082 a0001c0001t0006g0280 a0001c0002t0091g0082	2	392	0.0051	234	c.329 others(251): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGTGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCACCAGCCTTGCTC CCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(227): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19080.hp2 NA18998.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0025 a0001c0001t0015g0025	2	392	0.0051	234	c.329 others(251): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCACCAGCCTTGCTC CCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	458462	C C	CCACAGGG others(227): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02615.hp1 others(3): Show HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 others(3): Show a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0033 a0001c0001t0013g0035	6	295	0.0203	234	c.715 others(251): Show c.715-2784_715-2783insCAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(227): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0059 a0001c0012t0059	a0001c0012t0059g0107 a0001c0012t0059g0107	1	295	0.0034	234	c.715 others(251): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCAC CGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(227): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCAC CATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCATCCCCACCAGGC CCACCATCCCCACCAGGCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	330	0.0030	234	c.397 others(247): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGCCTGGTGGGGATGG TGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGG ATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGT GGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTG GG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(227): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCAC CAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCC CCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	330	0.0030	234	c.397 others(247): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTG GG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985782	C C	CCCCACCA others(227): Show CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCTCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCC CCACCAGGCCTACCAGGCCCACCATCCCCATCAGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	330	0.0030	234	c.397 others(249): Show c.397-118_397-117insCCTGATGGGGATGGTGGGCCTGGTAGGCCT GGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGG GCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGATGGGGATGGTGGGCCTG GTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG CCTGGTGAGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGG TGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985782	C C	CCCCACCA others(227): Show CCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCA CCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC CCCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCACCAGGCCCACCAGGCCCACCATCCCCATCAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	330	0.0030	234	c.397 others(249): Show c.397-118_397-117insCCTGATGGGGATGGTGGGCCTGGTGGGCCT GGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGG GGATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTG ATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGG GATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(227): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TACATATATATGCATATATATGTATACATATATATGCATATATATGTATA CATATATATGCATATATATATGCATATATATGTATACATATATATGCATA TATATATGCATACATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	359	0.0028	234	c.351 others(251): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATACATATATATGCATATATATGTATACATATATATGCATAT ATATGTATACATATATATGCATATATATATGCATATATATGTATACATAT ATATGCATATATATATGCATACATATATATGCATACATATATGCATGCAT ATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377680	T T	TATATATG others(227): Show TATATATGTATACATATATATGCATATATATGTATACATATATATGCATA TATATGTATGCATATATATGTATACATATATATGCATATATATGCATACA TATATATGCATATATATATGCATACATATATATGCATACATATATGCATG CATATATATATGCATACATATATGCATGCATATATATATGCATACATATA TGCATGCATATATATATGCATACATATATGTATGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0241 a0001c0007t0001g0241	1	359	0.0028	234	c.351 others(251): Show c.351+2975_351+2976insGTATACATATATATGCATATATATGTAT ACATATATATGCATATATATGTATGCATATATATGTATACATATATATGC ATATATATGCATACATATATATGCATATATATATGCATACATATATATGC ATACATATATGCATGCATATATATATGCATACATATATGCATGCATATAT ATATGCATACATATATGCATGCATATATATATGCATACATATATGTATGC ATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	170864733	T T	TAAGAAGC others(227): Show TAAGAAGCAGGAAATACCAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAGTTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0013 a0013	a0013c0006 a0013c0006	a0013c0006t0001 a0013c0006t0001	a0013c0006t0001g0015 a0013c0006t0001g0015	1	192	0.0052	234	c.18+ others(249): Show c.18+2697_18+2698insCCAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAGTTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAGGA AATA	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBBP8NL_chr20_62405237_62432539	62422631	T T	TGGGGCCC others(227): Show TGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGACTGGGGTG GGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGCCCGG GGTGGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGGGC CCGGGGTGGGAATGGGGCCCGGAGTGGGGATGGGGCCCGGAGTGGGGACG GGGCCCGGGGTGGGGATGGGGACTGGGGTGGGGAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 HG03579.hp1 HG03130.hp1 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0054 a0001c0001t0013g0295 a0001c0001t0001g0054 a0001c0001t0013g0295	3	432	0.0069	234	c.-83 others(251): Show c.-83-2902_-83-2901insGTCCCCACCCCAGTCCCCATCCCCACCC CGGGCCCCGTCCCCACTCCGGGCCCCATCCCCACTCCGGGCCCCATTCCC ACCCCGGGCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGCCAT CCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCC CCGTCCCCACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCG GGCCCC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RER1_chr1_2386841_2410436	2401360	C C	CTCCCTCC others(227): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCT TCTTCCTCCCTCCTCCTCCATTCTTCCTCCTCCTCCCTCCTCCCCCTCCT CCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCTCC TCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	354	0.0028	234	c.365 others(249): Show c.365+428_365+429insCTCCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCATTCTTCCTCCTCCT CCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCT CCCTCCTTCCTCCTCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCC TTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401381	C C	CTCCCTCC others(227): Show CTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTC CCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp1 HG00597.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0221 a0001c0001t0007g0219 a0001c0001t0003g0221 a0001c0001t0007g0219	2	354	0.0057	234	c.365 others(249): Show c.365+449_365+450insCTCCTTCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTC CTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTC CTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCC TTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RFX2_chr19_5988164_6115500	6070192	T T	TGGGATGG others(227): Show TGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATAG GGTGGGATGAAACGTGGATGGGATGGAAAGGGATGTGGATGGAGTGGGAT GGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGAATAGGATGGGATGT GGATGGGGTGGGATGAAATGTGGATGGGATGGAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	308	0.0033	234	c.-8- others(251): Show c.-8-22689_-8-22688insTTTCCATCCCATCCACATTTCATCCCAC CCCATCCACATCCCATCCTATTCACATCCCATCCCATCCCATCCACATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCATCCACGTTTCA TCCCACCCTATCCACATCCCATCCCATCCACATCCCATCCCATCCCATCC CATCCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3504655	C C	CATATGGT others(227): Show CATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATA TATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATA AAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGT ATATGCTATATGGTATATATTGTATATAAAATATATATTATATGCTATAT GGTATATATTGTATATAAAATATATATTATATGCT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0098 a0001c0001t0030g0098	1	196	0.0051	234	c.-9+ others(251): Show c.-9+21091_-9+21092insAGCATATAATATATATTTTATATACAAT ATATACCATATAGCATATAATATATATTTTATATACAATATATACCATAT AGCATATACTATATATTTTATATACAATATATACCATATGGCATATACTA TATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATA TACAATATATACCATATGGCATATACTATATATTTTATATACAATATATA CCATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(227): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATATG CCATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	196	0.0051	234	c.-9+ others(251): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATGCAATATATACCATATGGCATATACTATATATT TTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGS7BP_chr5_64501015_64617319	64548673	A A	ATTTTTGT others(227): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	280	0.0036	234	c.333 others(253): Show c.333-27088_333-27087insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTT	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RHEX_chr1_206048173_206107449	206064097	G G	GGTGAGGA others(227): Show GGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCC TCCGCCCGGCAGCCGCCCCGTCTGAGAAGTTAGGAGCCCCTCCGCCCGGC AGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCT GAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGTTAG GAGCCTCTCCGCCCGGCAGCCGCCCCGTCTGGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	334	0.0060	234	c.-97 others(253): Show c.-97+10919_-97+10920insCCTCCGCCCGGCAGCCGCCCCGTCTG GGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGA CCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGTTAGGAGCCTCTCCGCCC GGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCCG TCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGT TAGGAGCC	RHEX	ENSG00000263961.8	transcript	ENST00000331555.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPOR3_chr20_50581108_50696542	50666181	C C	CCTTTTCT others(227): Show CCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	280	0.0036	234	c.3+2 others(249): Show c.3+24944_3+24945insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGA AAAG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(227): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01517.hp1 NA18943.hp1 HG00733.hp2 HG01517.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024	a0001c0001t0010g0027 a0001c0001t0012g0012 a0001c0001t0024g0076 a0001c0001t0010g0027 a0001c0001t0012g0012 a0001c0001t0024g0076	3	396	0.0076	234	c.-76 others(243): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(227): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02735.hp1 NA18952.hp1 others(3): Show HG02135.hp1 HG02735.hp1 NA18952.hp1 NA18956.hp1 NA19057.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0167 a0001c0001t0003g0003 a0001c0001t0007g0137 others(3): Show a0001c0001t0001g0167 a0001c0001t0003g0003 a0001c0001t0007g0137 a0001c0001t0008g0003 a0001c0001t0017g0038 a0001c0001t0018g0047	6	396	0.0152	234	c.-76 others(243): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(227): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATACCAATATATATATTTTTAATATATATATTTTTAAATATATAT ATTTATATATATATTTTTATATATATATTTATATATATATTTTTATATAT ATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0161 a0001c0002t0003g0161	1	408	0.0025	234	c.182 others(251): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATACCAATATATATATTTTTAATA TATATATTTTTAAATATATATATTTATATATATATTTTTATATATATATT TATATATATATTTTTATATATATATATTTATATATATATTTTTAAATATA TATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATACTG others(227): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	118	0.0085	234	c.167 others(255): Show c.167-137630_167-137397dupTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816614	C C	CAGTATAT others(227): Show CAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTA AACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTG TAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATATAC TGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTATAT ACTGTAAACAGTATATGTATTTATATACTGTAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	118	0.0085	234	c.167 others(255): Show c.167-137929_167-137928insATTTACAGTATATAAATACATATA CTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATA TACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACA TATACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATA CATATACTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAA TACATATACT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60984938	T T	TAGAAGAT others(227): Show TAGAAGATCTATGCTGCAGCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGAAAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGCCACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0021 a0001c0001t0049 a0001c0002t0021	a0001c0001t0049g0003 a0001c0002t0021g0018 a0001c0001t0049g0003 a0001c0002t0021g0018	2	118	0.0170	234	c.166 others(255): Show c.166+244114_166+244115insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTGGCCCAGGCGGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTTTCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCATCACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGCTGCAGCA TAGATCTTCT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPTOR_chr17_80539838_80971368	80743975	T T	TAGCACAG others(227): Show TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGTGCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0033 a0001c0014t0002g0033	1	196	0.0051	234	c.655 others(253): Show c.655-10030_655-10029insAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGTTACGAGCACTGTGCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTT ACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744055	C C	CCCTGGTT others(227): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG TTACGAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0070 a0001c0073t0002g0070	1	196	0.0051	234	c.655 others(251): Show c.655-9950_655-9949insTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTG TCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744083	G G	GAGCACAG others(227): Show GAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0006 a0001c0072t0006	a0001c0072t0006g0108 a0001c0072t0006g0108	1	196	0.0051	234	c.655 others(251): Show c.655-9910_655-9909insGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744091	C C	CCCTGGCT others(227): Show CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0031 a0001c0017t0005g0031	1	196	0.0051	234	c.655 others(251): Show c.655-9914_655-9913insCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTG TCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744169	T T	TTACTAGC others(227): Show TTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0063 a0001c0035t0010g0063	1	196	0.0051	234	c.655 others(251): Show c.655-9832_655-9831insAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744205	T T	TTACTAGC others(227): Show TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0055 a0001c0014t0002g0055	1	196	0.0051	234	c.655 others(251): Show c.655-9796_655-9795insAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTAC TAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744223	C C	CTACTAGC others(227): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTCTC CTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCAGAGCCCTGGTTACTAGCAGAGCCCTGGCTTCTAGCAGAGCCCTGGTT ACTAGCACAGCCTTGGTTACTAGCACAGCCCTGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0025 a0001c0068t0025	a0001c0068t0025g0104 a0001c0068t0025g0104	1	196	0.0051	234	c.655 others(251): Show c.655-9778_655-9777insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCAGAGCCCTGGTTACTAGCAGAGCCCTGGCTTCTAGC AGAGCCCTGGTTACTAGCACAGCCTTGGTTACTAGCACAGCCCTGGTTAC TAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744433	C C	CCCTGGCT others(227): Show CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAGTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0063 a0001c0035t0010g0063	1	196	0.0051	234	c.655 others(251): Show c.655-9536_655-9535insCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTAGTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744785	T T	TAGCACTG others(227): Show TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0009 a0001c0061t0009	a0001c0061t0009g0040 a0001c0061t0009g0040	1	196	0.0051	234	c.655 others(251): Show c.655-9220_655-9219insTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC GAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSU1_chr10_16585611_16822424	16645969	T T	TATACATA others(227): Show TATACATATATGTATATATACATATACGTATATATACATATATGTATATA TACATATACGTATATATACATATATGTATATATACATATACGTATATATA CATATATGTATATATACATATACGTATATATACATATATGTATATATACA TATACGTATATATACATATATGTATATATACATATACGTATATATACATA TGTGTATATATACATATATATGTGTGTGTATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02976.hp2 others(1): Show HG01243.hp1 HG02559.hp1 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 others(1): Show a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0002t0021	a0001c0001t0018g0015 a0001c0001t0023g0110 a0001c0001t0026g0187 others(1): Show a0001c0001t0018g0015 a0001c0001t0023g0110 a0001c0001t0026g0187 a0001c0002t0021g0059	4	190	0.0211	234	c.731 others(253): Show c.731+49053_731+49054insGTATATACACACACATATATATGTAT ATATACACATATGTATATATACGTATATGTATATATACATATATGTATAT ATACGTATATGTATATATACATATATGTATATATACGTATATGTATATAT ACATATATGTATATATACGTATATGTATATATACATATATGTATATATAC GTATATGTATATATACATATATGTATATATACGTATATGTATATATACAT ATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16645969	T T	TATACATA others(227): Show TATACATATATGTATATATACATATACGTATATATACATATATGTATATA TACATATACGTATATATACATATATGTATATATACATATACGTATATATA CATATATGTATATATACATATACGTATATATACATATGTGTATATATACA TATACGTATATATACATATGTGTATATATACATATACGTATATATACATA TGTGTATATATACATATATATGTGTGTGTATATAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	190	0.0053	234	c.731 others(253): Show c.731+49053_731+49054insGTATATACACACACATATATATGTAT ATATACACATATGTATATATACGTATATGTATATATACACATATGTATAT ATACGTATATGTATATATACACATATGTATATATACGTATATGTATATAT ACATATATGTATATATACGTATATGTATATATACATATATGTATATATAC GTATATGTATATATACATATATGTATATATACGTATATGTATATATACAT ATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar

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