Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAN1B1_chr9_137081985_137114183	137102318	C C	CACACATT others(370): Show CACACATTCATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGT TGCAGGCGTGCAGGTCGGTGGTTACATTCACACTGTTGCAGGCGTGCAGG TTGGTGTTACACACATTCACAGTTGCAGGCGTGCAGGTCAGTGGTGTTAC ACACTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTT GCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGC AGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGG TGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGC TGTTGCAGGCGTGCAGGTTGGTGGTGTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18961.hp1 HG00558.hp2 NA18961.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0014 a0001c0002 a0009c0014	a0001c0002t0002 a0009c0014t0002 a0001c0002t0002 a0009c0014t0002	a0001c0002t0002g0091 a0009c0014t0002g0089 a0001c0002t0002g0091 a0009c0014t0002g0089	2	404	0.0050	377	c.125 others(394): Show c.1254+649_1254+650insCATTCATGCTGTTGCAGGAGTACAGGTC GGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTTACATTCACA CTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACAGTTGCAGGCGT GCAGGTCAGTGGTGTTACACACTCACACTTGCAGGCGTGCAGGTCGGTGG TGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACAT TCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGC AGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGT CAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACA	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MLPH_chr2_237482251_237560322	237544923	T T	TGGAGGGG others(370): Show TGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGG GACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTG GGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTTAGTGGGGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0126 a0006c0006t0003g0126	1	286	0.0035	377	c.154 others(396): Show c.1540-1681_1540-1680insAGGGGACAGTGGTTAGTGGGGGGACA GTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GGGACAGTGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGA GTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACA GTGGTGAGTGGAGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAG G	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH1_chr8_144143016_144266926	144203090	G G	GGGGGGAG others(370): Show GGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGC TGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCCCGCTCTCTGTGGAGGGGC GGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGTCTGTGGAGG GGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCG CCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGC GGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCGCT GTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGAAGCGCCCGCTGTCTGTGGAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0036 a0002c0008t0001g0036	1	140	0.0071	377	c.114 others(396): Show c.1141+2554_1141+2555insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCC CGCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAG GGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGC GCCCGCTGTCTGTGGAGCGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCG GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCG CTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGATGGGG G	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(370): Show ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTAT ATATATAAAATCTTATTTTATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0080 a0001c0001t0044g0080	1	330	0.0030	377	c.-5+ others(392): Show c.-5+3122_-5+3123insAATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAA GATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATA AAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2103341	C C	CATATGTG others(370): Show CATATGTGTATGTATGGATGGGTGTATGGATAAATGAGTGGGAGAGCGTG CATGTGTTATGTGTTTATGTGTATGTATGTATAGGTATATGGATAAATGA GTGGGAGAGTGTGCATGTGTTATGTGTATATGTGTATGTATGGATGGGTA TATGAATAAATGAGTGGGAGAGTGTGCATGTATTCTGTGTATATGTGTAT GTATGGATGGGTGTATGGATAAATGAGTGGGAGAGTGTGCATGTATTATG TGTATATGTGTATATATGTAGAGGTGTATGGATAAATGAGTGGGAGAGCG TGCATGTATTATGTGTATATGTGTATGTATGTAGAGGTATATGGATAAAT GAGTGGGAGAGTGTGCATGTATTAGTGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0078 a0078	a0078c0205 a0078c0205	a0078c0205t0001 a0078c0205t0001	a0078c0205t0001g0166 a0078c0205t0001g0166	1	403	0.0025	377	c.273 others(394): Show c.2734+607_2734+983dupGTGCATGTGTTATGTGTTTATGTGTATG TATGTATAGGTATATGGATAAATGAGTGGGAGAGTGTGCATGTGTTATGT GTATATGTGTATGTATGGATGGGTATATGAATAAATGAGTGGGAGAGTGT GCATGTATTCTGTGTATATGTGTATGTATGGATGGGTGTATGGATAAATG AGTGGGAGAGTGTGCATGTATTATGTGTATATGTGTATATATGTAGAGGT GTATGGATAAATGAGTGGGAGAGCGTGCATGTATTATGTGTATATGTGTA TGTATGTAGAGGTATATGGATAAATGAGTGGGAGAGTGTGCATGTATTAG TGTATATGTGTATGTATGGATGGGTGTATGGATAAATGAGTGGGAGAGC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	21/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(370): Show TCCCCTTTCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCCT CTTCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCT CCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCC CCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	223	0.0045	377	c.289 others(394): Show c.2897+879_2897+880insCCTTTCCTCCTCCCCTCTTCCCTCCCTC TCTCTCCTCCCCCTCCCCTCTTCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCTCCCTCCCCTTCCCCT CCCCTCTCCCTCCCCTTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(370): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATAAAATTTCTGG GGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTG ATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAG GTTGATGTAATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	364	0.0055	377	c.84 others(386): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTG ATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAATAATTT CTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTT GATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATA ATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NEU4_chr2_241804193_241822413	241806532	A A	ACCCTCCC others(370): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCT CCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	319	0.0031	377	c.-27 others(388): Show c.-2746_-2745insCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCTCCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2660		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(370): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACTGTGTATGCAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATG TATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0223 a0001c0004t0004g0223	1	362	0.0028	377	c.-75 others(396): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATAGTGTATATATACAGTATACATACTGCATACACAGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACATACAGTATACATACATACA GTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACAC A	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCCCTCC others(370): Show TCCCCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0284 a0001c0001t0099g0284	1	326	0.0031	377	c.433 others(394): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAAGGG GGAGGGGAGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(370): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCC TCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTT CCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	326	0.0031	377	c.433 others(394): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGG AAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGA GGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808471	C C	CTATATAA others(370): Show CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0270 a0001c0003t0002g0270	1	378	0.0027	377	c.489 others(394): Show c.489+2843_489+2844insTAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(370): Show TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	242	0.0041	377	c.360 others(396): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG G	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(370): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACGGGCGCCTGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	438	0.0023	377	c.-29 others(392): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCCGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(370): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	400	0.0025	377	c.70 others(388): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(370): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	400	0.0025	377	c.70 others(388): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(370): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA19054.hp1 NA18955.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0010g0001 a0001c0001t0001g0001 a0001c0001t0010g0001	2	400	0.0050	377	c.70 others(388): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(370): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	400	0.0025	377	c.70 others(388): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(370): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATG TATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	400	0.0025	377	c.70 others(388): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CCCCTCAC others(370): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG02155.hp1 others(2): Show HG00621.hp1 HG00673.hp2 HG02155.hp1 HG04184.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0176 a0001c0003t0001g0051 a0001c0005t0001g0198 others(2): Show a0001c0001t0001g0176 a0001c0003t0001g0051 a0001c0005t0001g0198 a0001c0005t0001g0285 a0001c0009t0001g0236	5	336	0.0149	377	c.269 others(396): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG G	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311962	C C	CCCCTCAC others(370): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0268 a0001c0009t0001g0268	1	336	0.0030	377	c.269 others(396): Show c.2699+1413_2699+1414insTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTG TGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG G	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDXK_chr21_43714129_43767299	43741174	C C	CGCGGGGG others(370): Show CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	358	0.0028	377	c.143 others(392): Show c.143-437_143-436insGGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCG CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHRF1_chr11_571470_617222	579718	G G	GAAGAAAG others(370): Show GAAGAAAGGTTAATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGCCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0201 a0001c0001t0007g0201	1	279	0.0036	377	c.-21 others(394): Show c.-21-1757_-21-1756insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGCCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGTTAATTACT	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(370): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGG GAAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	312	0.0032	377	c.53 others(388): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGGAAGAGGGGA GGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(370): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGG GAAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02165.hp2 HG03239.hp2 others(1): Show HG02083.hp1 HG02165.hp2 HG03239.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0013g0011 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0013g0011	4	312	0.0128	377	c.53 others(388): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGG GGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455726	A A	AGGGGAGG others(370): Show AGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGA AGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAA GAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAA GGGGGAAGAGGGGATGGGAGGGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	312	0.0032	377	c.53 others(388): Show c.5379_*5380insGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAG GGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGG GAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGA GGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGA GGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAAGAG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4258		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(370): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGG GAAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0011 a0007c0026t0011	a0007c0026t0011g0184 a0007c0026t0011g0184	1	218	0.0046	377	c.262 others(392): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCC TCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC CCATCTCCTCCCCTCCCCTCTTCCCCCCTCCCCTCCCCTCCCCTCTTCCC CCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(370): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGG GAAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18980.hp1 HG02165.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0180 a0001c0001t0005g0092 a0001c0001t0001g0180 a0001c0001t0005g0092	2	218	0.0092	377	c.262 others(392): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCTCC TCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(370): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0038 a0038	a0038c0059 a0038c0059	a0038c0059t0008 a0038c0059t0008	a0038c0059t0008g0001 a0038c0059t0008g0001	1	134	0.0075	377	c.575 others(398): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(370): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0005 a0011c0017t0005	a0011c0017t0005g0080 a0011c0017t0005g0080	1	134	0.0075	377	c.575 others(398): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(370): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGAAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0009 a0009	a0009c0086 a0009c0086	a0009c0086t0001 a0009c0086t0001	a0009c0086t0001g0111 a0009c0086t0001g0111	1	134	0.0075	377	c.575 others(398): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(370): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0022 a0022	a0022c0087 a0022c0087	a0022c0087t0006 a0022c0087t0006	a0022c0087t0006g0114 a0022c0087t0006g0114	1	134	0.0075	377	c.575 others(398): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(370): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19090.hp2 HG01106.hp1 NA19090.hp2	a0002 a0005 a0002 a0005	a0002c0004 a0005c0038 a0002c0004 a0005c0038	a0002c0004t0004 a0005c0038t0001 a0002c0004t0004 a0005c0038t0001	a0002c0004t0004g0115 a0005c0038t0001g0038 a0002c0004t0004g0115 a0005c0038t0001g0038	2	134	0.0149	377	c.575 others(398): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(370): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0103 a0001c0009t0001g0103	1	134	0.0075	377	c.575 others(398): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	398208	G G	GTACACCC others(370): Show GTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT CTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCGC ACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	216	0.0046	377	c.106 others(394): Show c.1068+549_1068+550insACCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCA CCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC GTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCA TCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCATACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398642	C C	CTACCCCC others(370): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCATACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	216	0.0046	377	c.106 others(394): Show c.1069-333_1069-332insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCATACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401916	G G	GCTCACCC others(370): Show GCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTC ACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCC AGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGAC CCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCG CTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCA CACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCC CGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCC CCGCTCACCCGGGACCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	216	0.0046	377	c.173 others(396): Show c.1738-1162_1738-1161insCTCACCCCGGGCCCCGCTCACACCCG CCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCG CTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCAC CCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACAC CCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	402115	C C	CCGCTCAC others(370): Show CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACC CCCGACCCGCTCACCCCAGCCCCCGCTCACCCCCGACCCGCTCACCCCGG ACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGC TCACACCCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCA CACCCGACCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACCCGGGACCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	216	0.0046	377	c.173 others(394): Show c.1738-962_1738-961insGCTCACCCCCGACCCGCTCACCCCGGGC CCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCCGCTCAC CCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGAC CCGCTCACCCCGGGCCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977844	C C	CCCGCAAC others(370): Show CCCGCAACCCCGGGAACCGCCTCCCACTCCCCGCGCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCC GCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	377	c.32 others(388): Show c.3269_*3270insCCGCAACCCCGGGAACCGCCTCCCACTCCCCGCG CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1980		chr1	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(370): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGG GGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCG GCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGC GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGG GGGGAGGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02922.hp1 HG03041.hp1 HG02109.hp1 HG02922.hp1 HG03041.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0007c0013t0008 a0001c0001t0001 a0007c0013t0008	a0001c0001t0001g0186 a0001c0001t0001g0187 a0007c0013t0008g0093 a0001c0001t0001g0186 a0001c0001t0001g0187 a0007c0013t0008g0093	3	354	0.0085	377	c.-27 others(386): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCC GCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCC CCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCC GCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(370): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	354	0.0028	377	c.-27 others(386): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCTCC CCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTA ACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCC GTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCT CCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCC CGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTC CCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCC GCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(370): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGGAAGAAGAAGGA AGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAAGAAAGAAG AAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAAGAAGAAGG AAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAG AAGAAGGAAGAAGGAAGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0095 a0004c0004t0001g0095	1	188	0.0053	377	c.147 others(396): Show c.1473+1827_1473+1828insTCCTTCTTCTTCTTCCTTCTTCCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTC TTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTC TTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTT CTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTT CCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCT TCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTT CTTCCTTCTTCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTT T	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATATA others(370): Show TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACACGTA TGTATATATTATATACATACACGTATGTATATATTATATACATACGTGTA TGTATATATTATATACATACACGTGTATGTATATATTATATACATACACG TATGTATATATTATATACATACACGTGTATGTATATATTATATACATACA CGTGTATGTATATATTATATACATACAC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	168	0.0060	377	c.303 others(396): Show c.303+34087_303+34088insGTGTATGTATATAATATATACATACA CGTGTATGTATATAATATATACATACACGTGTATGTATATAATATATACA TACGTGTATGTATATAATATATACATACACGTGTATGTATATAATATATA CATACACGTATGTATATAATATATACATACGTGTATGTATATAATATATA CATACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATA CATACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATA CATACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATA CATACGTGTATGTATATAATATATACATACGTGTATGTATATAATATATA C	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PRSS57_chr19_680546_700452	694405	T T	TAAAAATG others(370): Show TAAAAATGCAAAAATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	442	0.0023	377	c.233 others(392): Show c.233+408_233+409insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCAATTTTTGCATTTTT	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	2/4			chr19	TogoVar
PTPRE_chr10_127902103_128090855	128035258	T T	TAAAAACA others(370): Show TAAAAACATATATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0239 a0001c0001t0011g0239	1	304	0.0033	377	c.-7- others(392): Show c.-7-5605_-7-5604insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATATAT	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(370): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAATAGATATATATATTATT ATATATATCTAATAGATATATATATTATTATATATATCTAATAGATATAT ATATTATTATATATATCTAATAGATATATATATTATTATATATATCTAAT AGATATATATATTATTATATATATCTAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	344	0.0029	377	c.38- others(392): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTATTAGATATATATAATAATA TATATATCTATTAGATATATATAATAATATATATATCTATTAGATATATA TAATAATATATATATCTAATAGATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	504509	A A	ACCCCCCT others(370): Show ACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACC CCCTTACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCC CTCACCTCCTCCTGTACCCCCTCACCTCTTCCTGTACCCCCTCACCTCCT CCTGTACCCCCCTCACCTCCTCCTGTAC	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 a0011 a0001 a0011	a0001c0001 a0011c0024 a0001c0001 a0011c0024	a0001c0001t0013 a0011c0024t0013 a0001c0001t0013 a0011c0024t0013	a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 others(3): Show a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0035 a0011c0024t0013g0033	6	295	0.0203	377	c.139 others(396): Show c.1396-1010_1396-1009insCTCACCTCCTCCTGTACCCCCCTCAC CTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACT CCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCCCTCACCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCTTCC TGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCC C	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASGRF1_chr15_78954906_79095780	79092054	C C	CACACCAC others(370): Show CACACCACACACGCACACACACACGCCACACACACCGCATACACAAACAC CACACACCACACACACACACCATACACCACACACCAACACACCACACACA CACCACACACCCAAACACCACACACACCAAACACACACCACACACCCTAC ACACACACCACTCCCCACACCCCCCCACACCCCACCACACACACGCCACA CACACCACACACAGACACCACACACATGCCACACACCACACACACACCAC ACACACACCACACACCACACACACACCACACACATGCCACACACCACACA CATACCACATGCCACATACACACCCCCCACACTCCCCCACACCCCCCGCC ACACACACACACAACCCACACCATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	314	0.0032	377	c.-15 others(388): Show c.-1557_-1556insTTGTATGGTGTGGGTTGTGTGTGTGTGTGGCGGG GGGTGTGGGGGAGTGTGGGGGGTGTGTATGTGGCATGTGGTATGTGTGTG GTGTGTGGCATGTGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGTGGTG TGTGTGTGGTGTGTGGCATGTGTGTGGTGTCTGTGTGTGGTGTGTGTGGC GTGTGTGTGGTGGGGTGTGGGGGGGTGTGGGGAGTGGTGTGTGTGTAGGG TGTGTGGTGTGTGTTTGGTGTGTGTGGTGTTTGGGTGTGTGGTGTGTGTG TGGTGTGTTGGTGTGTGGTGTATGGTGTGTGTGTGTGGTGTGTGGTGTTT GTGTATGCGGTGTGTGTGGCGTGTGTGTGTGCGTGTGTGGTGT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding		1275		chr15	TogoVar
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCACAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01361.hp2 HG02015.hp1 others(22): Show HG00621.hp2 HG01361.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp2 HG03486.hp1 HG06807.hp2 NA18943.hp2 NA18959.hp1 NA18960.hp2 NA18969.hp1 NA18982.hp1 NA18988.hp1 NA18993.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19064.hp2 NA19076.hp2 NA19078.hp2 NA19089.hp1 NA19089.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0018 a0023 a0025	a0001c0010 a0003c0004 a0003c0029 others(5): Show a0001c0010 a0003c0004 a0003c0029 a0004c0006 a0004c0011 a0018c0036 a0023c0030 a0025c0028	a0001c0010t0003 a0003c0004t0002 a0003c0029t0003 others(5): Show a0001c0010t0003 a0003c0004t0002 a0003c0029t0003 a0004c0006t0003 a0004c0011t0003 a0018c0036t0012 a0023c0030t0003 a0025c0028t0003	a0001c0010t0003g0124 a0003c0004t0002g0113 a0003c0029t0003g0123 others(9): Show a0001c0010t0003g0124 a0003c0004t0002g0113 a0003c0029t0003g0123 a0004c0006t0003g0005 a0004c0006t0003g0042 a0004c0006t0003g0127 a0004c0011t0003g0071 a0004c0011t0003g0081 a0004c0011t0003g0145 a0018c0036t0012g0094 a0023c0030t0003g0125 a0025c0028t0003g0121	25	456	0.0548	377	c.17 others(388): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATT GTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGT GTGTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGTGAGGCACACGTG TGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGT GTACTGAGGCATGCATATGTGGTGTGTGCACGTGTCATGTGTATGAGGCA TGTGTAGCACTGTGAGGCACACGTGTGGTGTGTATGCATAGCACGTGTGA TTGTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACACGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02886.hp1 HG02717.hp2 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0089 a0003c0004t0008g0090 a0003c0004t0008g0089 a0003c0004t0008g0090	2	456	0.0044	377	c.17 others(388): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATT GTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGT GTGTGCACGTGTCGTGTAGGATGCGTGTGTAGCACTGAGAGGCACACGTG TGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGT GTACTGAGGCATGCATATGTGGTGTGTGCACGTGTCATGTGTATGAGGCA TGTGTAGCACTGTGAGGCACACGTGTGGTGTGTATGCATAGCACGTGTGA TTGTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar

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