Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(304): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCC CCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0131 a0011c0022t0001g0131	1	324	0.0031	311	c.101 others(328): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924153	C C	CCCACACT others(304): Show CCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTAATCCGG CCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCG GCCCCTCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTAAT CCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACT AACCCGGCCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0203 a0009c0010t0001g0203	1	350	0.0029	311	c.488 others(328): Show c.488+1509_488+1510insCACACTAACCCGGCCCCCCACACTGACC CGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTAAT CCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACT AACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCAC ACTAATCCGGCCCCCACACTAACCCGGCCCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924481	C C	CCCCACAC others(304): Show CCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCG GCCCCCCACACTACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACC CGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACAC TGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCAC ACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCA CACTAACCCAGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19065.hp1 NA19082.hp2 NA19064.hp1 NA19065.hp1 NA19082.hp2	a0001 a0002 a0065 a0001 a0002 a0065	a0001c0002 a0002c0001 a0065c0101 a0001c0002 a0002c0001 a0065c0101	a0001c0002t0001 a0002c0001t0001 a0065c0101t0001 a0001c0002t0001 a0002c0001t0001 a0065c0101t0001	a0001c0002t0001g0083 a0002c0001t0001g0082 a0065c0101t0001g0084 a0001c0002t0001g0083 a0002c0001t0001g0082 a0065c0101t0001g0084	3	350	0.0086	311	c.489 others(328): Show c.489-1240_489-1239insACACTAACCCAGTCCCCACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTACCCCGGCCCCCACACTGAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCCACACT AACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACA CTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCAC ACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCC ACACTGACCCAGCCCCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924879	C C	CCCCCCAC others(304): Show CCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACT AACCCGGCCCCTCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCA CACTGACCCAGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0222 a0009c0010t0001g0222	1	350	0.0029	311	c.489 others(326): Show c.489-841_489-840insCACACTAACCCGGCCCCCACACTAACCCGG CCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAATCCG GCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGA CCCAGCCCCCACACTAACCCGGCCCCTCACACTGACCCGGCCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCACACTGACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNND2_chr5_10966836_11909446	11136505	T T	TTGAGGGT others(304): Show TTGAGGGTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA CTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0018 a0001c0001t0001g0022	2	26	0.0769	311	c.216 others(332): Show c.2160-18939_2160-18938insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAGAAAACCCTCA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CYP3A5_chr7_99643194_99684996	99675643	T T	TCTCCTCC others(304): Show TCTCCTCCCCACTCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTC CCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCC CTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCCCTC CTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTC CCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTC CTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCC CCTCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	292	0.0034	311	c.165 others(326): Show c.165+471_165+472insGAGGAGGGGAGGGGAGGGGGAGGAGGGGAG GGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAG GGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGG GGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGG GGAGGGGGAGGGGGAGAGGAGTGGGGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(304): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAACACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp2 HG02572.hp2 others(3): Show HG01192.hp2 HG01891.hp2 HG02572.hp2 HG02630.hp1 HG03453.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0005 a0001c0001t0011 a0003c0007t0008 a0001c0001t0005 a0001c0001t0011 a0003c0007t0008	a0001c0001t0005g0095 a0001c0001t0005g0155 a0001c0001t0011g0045 others(3): Show a0001c0001t0005g0095 a0001c0001t0005g0155 a0001c0001t0011g0045 a0003c0007t0008g0273 a0003c0007t0008g0294 a0003c0007t0008g0295	6	416	0.0144	311	c.500 others(328): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(304): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18999.hp2 NA18959.hp2 NA18999.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0017 a0001c0001t0001 a0005c0009t0017	a0001c0001t0001g0235 a0005c0009t0017g0193 a0001c0001t0001g0235 a0005c0009t0017g0193	2	416	0.0048	311	c.500 others(328): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DDR2_chr1_162627464_162792405	162791518	G G	GCATTTGG others(304): Show GCATTTGGCATTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACC ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03710.hp2 NA18949.hp1 others(1): Show HG03486.hp1 HG03710.hp2 NA18949.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0045 a0001c0001t0002 a0001c0001t0003 a0001c0001t0045	a0001c0001t0002g0060 a0001c0001t0003g0153 a0001c0001t0003g0161 others(1): Show a0001c0001t0002g0060 a0001c0001t0003g0153 a0001c0001t0003g0161 a0001c0001t0045g0297	4	302	0.0133	311	c.11 others(324): Show c.11272_*11273insCATTTGGCATTTTTTTTTTTTTTTTTTGGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		4114		chr1	TogoVar
DLGAP2_chr8_732628_1713476	1643766	C C	CAACCCGC others(304): Show CAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACC TGTGTCACCCTCGAACCCGCCGGCCCCCACCTGTGTCACCCTCGACCCCG CCGGTCCTCACCTGTGTCACCCCTCGACCCCGCCGGCCCTCACCTGTGTC ACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCC CTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCC AACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCT GTGTCACCCTGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	311	c.181 others(332): Show c.1810+10730_1810+10731insCCCTCACCTGTGTCACCCTCCAAC CCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCCCACCTGTG TCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCCTCGACCCCGCCG GCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCC TCCAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCA CCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACC CGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(304): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTACAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0004 a0004c0023t0004	a0004c0023t0004g0357 a0004c0023t0004g0357	1	362	0.0028	311	c.287 others(330): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTG TAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(304): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02486.hp2 HG02572.hp2 others(10): Show HG00408.hp1 HG02486.hp2 HG02572.hp2 HG02895.hp1 HG03225.hp2 NA18906.hp1 NA18944.hp1 NA18979.hp2 NA18981.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19067.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0022 a0001c0003 a0001c0006 a0001c0022	a0001c0003t0006 a0001c0003t0013 a0001c0006t0008 others(2): Show a0001c0003t0006 a0001c0003t0013 a0001c0006t0008 a0001c0006t0025 a0001c0022t0024	a0001c0003t0006g0008 a0001c0003t0006g0009 a0001c0003t0006g0348 others(10): Show a0001c0003t0006g0008 a0001c0003t0006g0009 a0001c0003t0006g0348 a0001c0003t0006g0349 a0001c0003t0006g0351 a0001c0003t0013g0360 a0001c0003t0013g0362 a0001c0006t0008g0352 a0001c0006t0008g0353 a0001c0006t0008g0354 a0001c0006t0008g0356 a0001c0006t0025g0355 a0001c0022t0024g0067	13	362	0.0359	311	c.287 others(330): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(304): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(55): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01256.hp2 HG01433.hp2 HG01891.hp2 HG01943.hp2 HG02015.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03516.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18983.hp1 NA18985.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp2 NA19064.hp1 NA19068.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA20129.hp1 NA20805.hp2	a0001 a0009 a0011 others(1): Show a0001 a0009 a0011 a0012	a0001c0003 a0001c0006 a0009c0021 others(2): Show a0001c0003 a0001c0006 a0009c0021 a0011c0025 a0012c0024	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 others(7): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0012 a0001c0003t0022 a0001c0003t0038 a0001c0006t0023 a0009c0021t0005 a0011c0025t0005 a0012c0024t0005	a0001c0003t0004g0007 a0001c0003t0004g0011 a0001c0003t0004g0013 others(55): Show a0001c0003t0004g0007 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0023 a0001c0003t0004g0024 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0027 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0032 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0005g0019 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0028 a0001c0003t0005g0066 a0001c0003t0005g0323 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0330 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0339 a0001c0003t0005g0340 a0001c0003t0005g0358 a0001c0003t0009g0044 a0001c0003t0009g0045 a0001c0003t0009g0059 a0001c0003t0009g0060 a0001c0003t0012g0033 a0001c0003t0022g0012 a0001c0003t0038g0359 a0001c0006t0023g0004 a0009c0021t0005g0020 a0011c0025t0005g0329 a0012c0024t0005g0018	58	362	0.1602	311	c.287 others(330): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(304): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0050 a0001c0003t0004g0050	1	362	0.0028	311	c.287 others(330): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(304): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02451.hp1 others(7): Show HG01243.hp1 HG02145.hp2 HG02451.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 others(7): Show a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0055 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0058	10	362	0.0276	311	c.287 others(330): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAH11_chr7_21538039_21906839	21584948	T T	TAAAAAAA others(304): Show TAAAAAAAATGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp2 HG02818.hp1 HG03540.hp2	a0028 a0164 a0028 a0164	a0028c0013 a0164c0093 a0028c0013 a0164c0093	a0028c0013t0001 a0164c0093t0027 a0028c0013t0001 a0164c0093t0027	a0028c0013t0001g0089 a0164c0093t0027g0100 a0028c0013t0001g0089 a0164c0093t0027g0100	2	298	0.0067	311	c.171 others(330): Show c.1710+2940_1710+2941insTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCC GGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTAG	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	9/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH17_chr17_78418697_78582396	78541155	G G	GGGGTGGG others(304): Show GGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAG CGGGATGGGGGGGTGAGCGGGATGGGGGGGTGAGCGGGGTGGGGGGATGA GCAGGTGGGGGGGTGAGCAGGGTGGGGGGATGAGCAGATGGGTGGGTGAG CGGGGTGGGGGGGGTGAGCGGATGGGTGGGTGGGGGGGTGAGCGGGGTGG GGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTG GGGGGGTGAGCGGGATGGGGGGGTGAGTGGGGTGGGGGGATGAGCAGGTG GGGGGGTGAGCA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0108 a0108	a0108c0148 a0108c0148	a0108c0148t0001 a0108c0148t0001	a0108c0148t0001g0131 a0108c0148t0001g0131	1	252	0.0040	311	c.253 others(330): Show c.2533-1276_2533-1275insTGCTCACCCCCCCACCTGCTCATCCC CCCACCCCACTCACCCCCCCATCCCGCTCACCCCCCCACCCCGCTCACCC CCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCACCCATCCGCTCACCCCCCCCACCCCGCTCACCCACCCATC TGCTCATCCCCCCACCCTGCTCACCCCCCCACCTGCTCATCCCCCCACCC CGCTCACCCCCCCATCCCGCTCACCCCCCCATCCCGCTCACCCCCCCACC CCGCTCACCCCCCCACCCCGCTCACCCCCCCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7777128	C C	CAAAAAAA others(304): Show CAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0035 a0035	a0035c0102 a0035c0102	a0035c0102t0002 a0035c0102t0002	a0035c0102t0002g0259 a0035c0102t0002g0259	1	316	0.0032	311	c.505 others(328): Show c.5058+255_5058+256insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	32/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(304): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATGATATATATATC CCATATATATGATATATATATGATATATATGATATATATGGGATATATAT ATCATATATATATCATATATATGGGATATATATATCATATATATCATATA TATGGGATATATATATCATATATATCATATATATGGGATATATATATCAT ATATATCATATATATGGGATATATATATCATATATATCATATATATGGGA TATATATATCAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02602.hp1 HG01515.hp1 HG01517.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0112 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0112	3	336	0.0089	311	c.22- others(328): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATATCCCATATATATGATATATATGA TATATATATCCCATATATATGATATATATATGATATATATATCCCATATA TATCATATATATCATATATATATCATATATATGGGATATATATATCATAT ATATATCATATATATATCATATATATGGGATATATATATCATATATATAT CATATATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DPH6_chr15_35365880_35551165	35457361	T T	TCAATAAT others(304): Show TCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp2 NA18944.hp2 others(5): Show HG00609.hp1 HG01358.hp2 NA18944.hp2 NA18946.hp2 NA18977.hp1 NA18991.hp2 NA19079.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0002g0001 a0001c0001t0002g0013	8	228	0.0351	311	c.313 others(328): Show c.313-2542_313-2541insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAATTATTG	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
ECHDC2_chr1_52890910_52926740	52923161	T T	TAAAAAAA others(304): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	314	0.0032	311	c.-14 others(322): Show c.-1489_-1488insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCCTTTTTTTTTTTTTT	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		1422		chr1	TogoVar
ECM2_chr9_92490315_92540990	92520052	A A	AGGGAAGA others(304): Show AGGGAAGATTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0078 a0001c0002t0002g0079	2	400	0.0050	311	c.293 others(328): Show c.293-2178_293-2177insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAGAAATCTTCCC	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	2/9			chr9	TogoVar
EFNA5_chr5_107371894_107675937	107400303	G G	GTCAAATA others(304): Show GTCAAATATCAAATATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0054 a0001c0001t0086g0054	1	190	0.0053	311	c.419 others(330): Show c.419-12533_419-12532insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAATATTTGATATTTGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EHMT1_chr9_137614005_137841127	137716477	T T	TTGGTGTC others(304): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	170	0.0059	311	c.86- others(322): Show c.86-67_86-66insTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44889536	T T	TAAAACAA others(304): Show TAAAACAAAAAAAAATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	322	0.0031	311	c.657 others(328): Show c.657-7798_657-7797insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCAATTTTTTTTTGTTTT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	6/11			chr1	TogoVar
ENPP3_chr6_131632302_131752410	131692861	A A	ATATATAT others(304): Show ATATATATGATATATAGTTATATATTATACACTATATATCATATATAGTT ATATATTATACACTATATATGATATATAGTTATATATTATACAACTATAT ATGATATATAGTTATATATTATACACTATATATGATATATAGTTATATAT TATACACTATATATGATATATAGTTATATATTATACACTATATATGATAT ATAGTTATATATTATACACTATATATGATATATAGTTATATATTATACAC TATATATGATATATAGTTATATATTATACACTATATATGATATATAGTTA TATATTATACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	278	0.0036	311	c.128 others(328): Show c.1285-598_1285-597insCATATATAGTTATATATTATACACTATA TATGATATATAGTTATATATTATACAACTATATATGATATATAGTTATAT ATTATACACTATATATGATATATAGTTATATATTATACACTATATATGAT ATATAGTTATATATTATACACTATATATGATATATAGTTATATATTATAC ACTATATATGATATATAGTTATATATTATACACTATATATGATATATAGT TATATATTATACACTATATATGATATATAGTTATATATTATACACTATAT ATGATATATAGTTATATATTATACACTATATAT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131692861	A A	ATATATAT others(304): Show ATATATATGATATATAGTTATATATTATACACTATATATGATATATAGTT ATATATTATACACTATATATGATATATAGTTATATATTATACAACTATAT ATGATATATAGTTATATATTATACACTATATATGATATATAGTTATATAT TATACACTATATATGATATATAGTTATATATTATACACTATATATGATAT ATAGTTATATATTATACACTATATATCATATATAGTTATATATTATACAC TATATATGATATATAGTTATATATTATACACTATATATGATATATAGTTA TATATTATACAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	278	0.0036	311	c.128 others(328): Show c.1285-544_1285-543insACTATATATGATATATAGTTATATATTA TACACTATATATGATATATAGTTATATATTATACACTATATATGATATAT AGTTATATATTATACACTATATATGATATATAGTTATATATTATACACTA TATATCATATATAGTTATATATTATACACTATATATGATATATAGTTATA TATTATACACTATATATGATATATAGTTATATATTATACACTATATATGA TATATAGTTATATATTATACACTATATATGATATATAGTTATATATTATA CACTATATATGATATATAGTTATATATTATACA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131692861	A A	ATATATAT others(304): Show ATATATATGATATATAGTTATATATTATACACTATATATGATATATAGTT ATATATTATACACTATATATGATATATAGTTATATATTATACAACTATAT ATGATATATAGTTATATATTATACACTATATATGATATATAGTTATATAT TATACACTATATATGATATATAGTTATATATTATACACTATATATGATAT ATAGTTATATATTATACACTATATATGATATATAGTTATATATTATACAC TATATATGATATATAGTTATATATTATACACTATATATGATATATAGTTA TATATTATACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00639.hp2 others(37): Show HG00423.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG01169.hp1 HG01978.hp2 HG01993.hp1 HG02056.hp1 HG02083.hp2 HG02273.hp1 HG02683.hp2 HG02735.hp2 HG03239.hp2 HG03669.hp1 HG04199.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18964.hp2 NA18968.hp1 NA18980.hp1 NA18981.hp1 NA18989.hp1 NA18990.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp2 NA19054.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp2 NA19080.hp2 NA19088.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0002 a0001c0010 a0002c0006 others(1): Show a0001c0002 a0001c0010 a0002c0006 a0015c0025	a0001c0002t0001 a0001c0002t0003 a0001c0010t0001 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0010t0001 a0002c0006t0002 a0015c0025t0001	a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 others(37): Show a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0069 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0182 a0001c0002t0001g0190 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0230 a0001c0002t0001g0251 a0001c0002t0003g0169 a0001c0010t0001g0068 a0002c0006t0002g0218 a0002c0006t0002g0225 a0015c0025t0001g0054	40	278	0.1439	311	c.128 others(328): Show c.1285-544_1285-543insACTATATATGATATATAGTTATATATTA TACACTATATATGATATATAGTTATATATTATACACTATATATGATATAT AGTTATATATTATACACTATATATGATATATAGTTATATATTATACACTA TATATGATATATAGTTATATATTATACACTATATATGATATATAGTTATA TATTATACACTATATATGATATATAGTTATATATTATACACTATATATGA TATATAGTTATATATTATACACTATATATGATATATAGTTATATATTATA CACTATATATGATATATAGTTATATATTATACA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(304): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02004.hp1 HG06807.hp1 HG01192.hp1 HG02004.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080	3	428	0.0070	311	c.83+ others(324): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41_chr1_28909569_29125041	28994950	G G	GCACCCAG others(304): Show GCACCCAGCCTTATTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	312	0.0032	311	c.681 others(328): Show c.681+1426_681+1427insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCACCCAGCCTTATTTCTT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29055652	T T	TAGAAAAT others(304): Show TAGAAAATAACTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG02896.hp2 others(6): Show HG02257.hp2 HG02717.hp1 HG02896.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 others(6): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139	9	312	0.0289	311	c.184 others(330): Show c.1845+2355_1845+2356insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAGAAAATAACTATGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(304): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	312	0.0032	311	c.231 others(330): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX1_chr1_225805124_225850563	225808718	T T	TAAGAGTA others(304): Show TAAGAGTAACGAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG03098.hp1 others(16): Show HG00438.hp1 HG00735.hp1 HG03098.hp1 NA18939.hp1 NA18945.hp1 NA18952.hp1 NA18956.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18983.hp2 NA18989.hp1 NA19003.hp1 NA19056.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0001 a0001c0011 a0002c0002 others(4): Show a0001c0001 a0001c0011 a0002c0002 a0002c0006 a0002c0009 a0004c0010 a0016c0041	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0002c0006t0001 a0002c0009t0001 a0004c0010t0004 a0016c0041t0001	a0001c0001t0001g0019 a0001c0001t0001g0297 a0001c0001t0001g0394 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0297 a0001c0001t0001g0394 a0001c0011t0001g0370 a0001c0011t0001g0373 a0002c0002t0001g0364 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0006t0001g0003 a0002c0006t0001g0369 a0002c0006t0001g0371 a0002c0006t0001g0372 a0002c0009t0001g0360 a0002c0009t0001g0361 a0002c0009t0001g0362 a0004c0010t0004g0363 a0016c0041t0001g0368	19	422	0.0450	311	c.-14 others(322): Show c.-1457_-1456insAAGAGTAACGAATGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAA	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding		1405		chr1	TogoVar
ERC2_chr3_55503311_56473467	56359820	G G	GCCAGGCT others(304): Show GCCAGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT GGCCCAGGCGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACCATCACGCCCGGCTAATTTGTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG03540.hp1 HG02630.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042	3	74	0.0405	311	c.658 others(330): Show c.658-63386_658-63385insGCCGGGCGCGGTGGCTCACGCTTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAACAAATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGCCACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCCTGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERP44_chr9_99974185_100104000	100087012	T T	TAAAAAAA others(304): Show TAAAAAAAAAAACTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01109.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0077 a0001c0001t0010g0088 a0001c0001t0003g0077 a0001c0001t0010g0088	2	220	0.0091	311	c.57+ others(328): Show c.57+11771_57+11772insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAAAGTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100093166	T T	TAAAGGCC others(304): Show TAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC AGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0071 a0001c0001t0013g0071	1	220	0.0046	311	c.57+ others(326): Show c.57+5617_57+5618insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ETFB_chr19_51340169_51371388	51345934	C C	CCCTATAG others(304): Show CCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGAT GCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCCTAT AGGCTGAGATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTG AACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGA GATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTC CCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATG CGCTGAACCCTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	436	0.0023	311	c.598 others(326): Show c.598-554_598-553insCAGGGTTCAGCGCATCATCTCAGCCTATAG GGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCAT CTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGT TCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCC TATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCG CATCATCTCAGCCTATAGGGAGGGTTCAGGGCATCATCTCAGCCTATAGG GAGGGTTCAGCGCATCATCTCAGCCTATAGG	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345965	C C	CCCTATAG others(304): Show CCCTATAGGCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGAT GCGCTGAACCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTAT AGGCTGAGATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTG AACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGA GATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTC CCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATG CGCTGAACCCTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02486.hp1 HG02922.hp2 others(1): Show HG01099.hp1 HG02486.hp1 HG02922.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 others(1): Show a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0309	4	436	0.0092	311	c.598 others(326): Show c.598-585_598-584insCAGGGTTCAGCGCATCATCTCAGCCTATAG GGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCAT CTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGT TCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCC TATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGC ATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATAGG GAGGGTTCAGGGCATCATCTCAGCCTATAGG	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345973	G G	GCTGAGAT others(304): Show GCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAA CCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGACTGAG ATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGC GCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGG CTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAAC CCTGCCTATAGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18986.hp2 NA19009.hp2 others(1): Show NA18957.hp1 NA18986.hp2 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0196 a0001c0001t0001g0256 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0196 a0001c0001t0001g0256 a0001c0001t0001g0257	4	436	0.0092	311	c.598 others(326): Show c.598-593_598-592insTCTATAGGCAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAG CGCATCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGTCTATA GGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGTCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAG CCTATAGGGAGGGTTCAGGGCATCATCTCAG	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345973	G G	GCTGAGAT others(304): Show GCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAA CCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAG ATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGC GCAGAACCCTCCCTATAGGCTGAGATGATGCACTGAACCCTCCCTATAGG CTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAAC CCTGCCTATAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18983.hp2 NA19080.hp2 NA18941.hp1 NA18983.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	3	436	0.0069	311	c.598 others(326): Show c.598-593_598-592insTCTATAGGCAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAG TGCATCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATA GGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAG CCTATAGGGAGGGTTCAGGGCATCATCTCAG	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345973	G G	GCTGAGAT others(304): Show GCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAA CCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAG ATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGC GCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGG CTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAAC CCTACCTATAGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	436	0.0023	311	c.598 others(326): Show c.598-593_598-592insTCTATAGGTAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAG CGCATCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATA GGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAG CCTATAGGGAGGGTTCAGGGCATCATCTCAG	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
ETFB_chr19_51340169_51371388	51345973	G G	GCTGAGAT others(304): Show GCTGAGATGATGCCCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAA CCCTCCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAG ATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCC CTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGC GCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGG CTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAAC CCTGCCTATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(98): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18978.hp2 NA18987.hp2 NA18992.hp1 NA18994.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19068.hp2 NA19078.hp1 NA19081.hp1 NA19086.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(70): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0022 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0056 a0002c0002t0001g0066 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0093 a0002c0002t0001g0108 a0002c0002t0001g0127 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0167 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0206 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0237 a0002c0002t0001g0252 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0330 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0339 a0004c0005t0001g0311	101	436	0.2317	311	c.598 others(326): Show c.598-593_598-592insTCTATAGGCAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAG CGCATCATCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATA GGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCTGCGCATCATCTCAGCCTATAGGGAGGG TTCAGCGCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAG CCTATAGGGAGGGTTCAGGGCATCATCTCAG	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	5/5			chr19	TogoVar
FAF1_chr1_50432028_50965267	50564278	A A	AGGACTCT others(304): Show AGGACTCTCTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0091 a0002c0004t0001g0091	1	190	0.0053	311	c.126 others(330): Show c.1268+2798_1268+2799insACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATTTAGAGAGTCC	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAM219B_chr15_74894992_74911851	74910712	T T	TAAAAGGG others(304): Show TAAAAGGGATGGAGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCATGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA19079.hp1 NA18975.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	2	432	0.0046	311	c.-39 others(322): Show c.-3913_-3912insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCCTCCATCCCTTTT	FAM219B	ENSG00000178761.15	transcript	ENST00000357635.10	protein_coding		3862		chr15	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(304): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03471.hp2 HG06807.hp2 others(1): Show HG02683.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp1	a0002 a0044 a0002 a0044	a0002c0002 a0002c0013 a0044c0058 a0002c0002 a0002c0013 a0044c0058	a0002c0002t0003 a0002c0013t0004 a0002c0013t0051 others(1): Show a0002c0002t0003 a0002c0013t0004 a0002c0013t0051 a0044c0058t0032	a0002c0002t0003g0037 a0002c0013t0004g0059 a0002c0013t0051g0083 others(1): Show a0002c0002t0003g0037 a0002c0013t0004g0059 a0002c0013t0051g0083 a0044c0058t0032g0094	4	118	0.0339	311	c.121 others(332): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(304): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATATATATCATATCATTATC ATATATCACATATATCATATATCACATATATCACATATATCATATATCAC ATATATCACATATATCATATATATCATATATCACATATATCATATATATC ATATATCACATATATCATATATCACATATATCATATATATCATATATCAT ATATATCATATATATCATATATATCATATATATCATATATATCATATATA TCATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0005 a0001c0032t0005	a0001c0032t0005g0037 a0001c0032t0005g0037	1	236	0.0042	311	c.-22 others(322): Show c.-2234_-2233insTGATATATATGATATATATGATATATATGATATA TATGATATATATGATATATATGATATATATGATATATGATATATATGATA TATGTGATATATGATATATGTGATATATGATATATATGATATATGTGATA TATGATATATATGATATATGTGATATATGTGATATATGATATATGTGATA TATGTGATATATGATATATGTGATATATGATAATGATATGATATATATAT GATATATATGATAGATCATATATGATCTCATATATATGATATATATGATA TAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(304): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0036 a0002c0002t0003g0036	1	334	0.0030	311	c.-10 others(330): Show c.-10-21228_-10-21227insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FCHO2_chr5_72951041_73095522	73083440	T T	TAAGAAAC others(304): Show TAAGAAACTACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0167 a0001c0001t0015g0167	1	286	0.0035	311	c.224 others(328): Show c.2245+624_2245+625insCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAAACTA	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER1L6_chr8_123846987_124125061	124034159	A A	AGAAGAAG others(304): Show AGAAGAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC CTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0019 a0019	a0019c0057 a0019c0057	a0019c0057t0001 a0019c0057t0001	a0019c0057t0001g0145 a0019c0057t0001g0145	1	196	0.0051	311	c.228 others(330): Show c.2287-1118_2287-1117insGAAGAAGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCCTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAG	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	18/40			chr8	TogoVar
FHAD1_chr1_15242223_15403328	15301127	G G	GCCCCTAC others(304): Show GCCCCTACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG03471.hp1 others(2): Show HG02559.hp1 HG02970.hp2 HG03471.hp1 HG06807.hp1 NA21309.hp1	a0019 a0028 a0044 others(2): Show a0019 a0028 a0044 a0051 a0061	a0019c0021 a0028c0130 a0044c0106 others(2): Show a0019c0021 a0028c0130 a0044c0106 a0051c0123 a0061c0129	a0019c0021t0018 a0028c0130t0019 a0044c0106t0045 others(2): Show a0019c0021t0018 a0028c0130t0019 a0044c0106t0045 a0051c0123t0034 a0061c0129t0019	a0019c0021t0018g0015 a0028c0130t0019g0184 a0044c0106t0045g0014 others(2): Show a0019c0021t0018g0015 a0028c0130t0019g0184 a0044c0106t0045g0014 a0051c0123t0034g0259 a0061c0129t0019g0185	5	294	0.0170	311	c.679 others(324): Show c.679-63_679-62insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCCCCTACTTTTTTTT	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results