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
COL5A1_chr9_134636803_134849843	134656889	A A	ATTATAGA others(368): Show ATTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATA TGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGG CAGGGGGTTCACTTTATAGATAATATGGGGGGGTGAGACAGGGGGTGCAG TTTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATA TGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGG CAGGGGGTGCACTTTATAGATAATATGGGGGGGTGAGACAGGGGGTGCAG TTTATAGATAATATGGGGGACGGGGCAGGGGGTTCACTTTATAGATAATA TGGGGGGGTGAGACAGGGGGTGCAGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02109.hp1 HG02723.hp1 others(1): Show HG01071.hp2 HG02109.hp1 HG02723.hp1 HG03579.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0001c0006 a0001c0024 others(1): Show a0001c0003 a0001c0006 a0001c0024 a0010c0038	a0001c0003t0010 a0001c0006t0001 a0001c0024t0015 others(1): Show a0001c0003t0010 a0001c0006t0001 a0001c0024t0015 a0010c0038t0012	a0001c0003t0010g0039 a0001c0006t0001g0108 a0001c0024t0015g0007 others(1): Show a0001c0003t0010g0039 a0001c0006t0001g0108 a0001c0024t0015g0007 a0010c0038t0012g0008	4	272	0.0147	375	c.109 others(394): Show c.109+14700_109+14701insTCACTTTATAGATAATATGGGGGGGT GAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGGCAGGGGGTG CACTTTATAGATAATATGGGGGGGTGAGACAGGGGGTGCAGTTTATAGAT AATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATATGGGGGGGT GAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGGCAGGGGGTT CACTTTATAGATAATATGGGGGGGTGAGACAGGGGGTGCAGTTTATAGAT AATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATATGGGGGGGT GAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGGCAGGGGGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45988284	G G	GTCCAGAT others(368): Show GTCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGG AGGGGATGTCGGGGCTCCAGATGTAGGGGACGGCGGGGTCCAGATGGAGG GGATGGCGGGGTCCAGATGGAAGGGACGGCGGGGCTCCAGATGGAGGGGA CGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACG GCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGATGTCGGGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0025 a0025	a0025c0034 a0025c0034	a0025c0034t0002 a0025c0034t0002	a0025c0034t0002g0116 a0025c0034t0002g0116	1	128	0.0078	375	c.804 others(390): Show c.804+645_804+646insTGTCGGGGCTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGATGTCGGGGCTCCAGATGTAGGGGACGGCGGGGTCCAGATG GAGGGGATGGCGGGGTCCAGATGGAAGGGACGGCGGGGCTCCAGATGGAG GGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGG GACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACG GCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(368): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGG GACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAG GATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0075 a0001c0010t0005g0075	1	128	0.0078	375	c.177 others(392): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGA CGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGG GTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(368): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGG GACGTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAG GATTGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0112 a0002c0008t0001g0112	1	128	0.0078	375	c.177 others(392): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGA CGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCGTGAGG GTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(368): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGG GAGGGGGGAGGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0105 a0002c0002t0003g0105	1	216	0.0046	375	c.923 others(394): Show c.923-33077_923-33076insTCCCCTCCCCCTCCCCCTCCCCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCC CCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCA TTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX53_chrX_22994960_23008589	23002080	A A	AAACTTTC others(368): Show AAACTTTCAATATTGTGTATGCTCCTTAATTTTAAAAAAGTCTCAAAAAT GAGAGAGTGAGAGACTGTGTGAAGAGAAAGTGAATGTTACGTGTTGATTA AAGTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATG TGAAGGTTTGTTAAAGAAACACGTGCCATGGGGGTTTATCAACTTTCAAT ATTGTGTATGTTCCTTAATTTTAGAAAAAGTCTCAAAAATGAGAGAGAGA CTATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAGTTTAATTTCTC CTAAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGAAGGTTTGTTAA AGAAACACGTGTCATGGGGGTTTATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0000 a0001c0001t0014g0000	1	358	0.0028	375	c.22 others(384): Show c.222_*223insATTAAAGTTTAATTTCTCTTAAAAATACTTTTATTT TAGGTTTGGGGGTATATGTGAAGGTTTGTTAAAGAAACACGTGCCATGGG GGTTTATCAACTTTCAATATTGTGTATGTTCCTTAATTTTAGAAAAAGTC TCAAAAATGAGAGAGAGACTATGTGAAGAGAAGGTAAATGTTATGTGTTG GTTAAAGTTTAATTTCTCCTAAAAATACTTTTATTTTAGGTTTGGGGGTA TTTGTGAAGGTTTGTTAAAGAAACACGTGTCATGGGGGTTTATCAACTTT CAATATTGTGTATGCTCCTTAATTTTAAAAAAGTCTCAAAAATGAGAGAG TGAGAGACTGTGTGAAGAGAAAGTGAATGTTACGTGTTG	DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1	223	INFO_REALIGN_3_PRIME	chrX	TogoVar
DDX53_chrX_22994960_23008589	23002080	A A	AAACTTTC others(368): Show AAACTTTCAATATTGTGTATGCTCCTTAATTTTAAAAAAGTCTCAAAAAT GAGAGAGTGAGAGACTGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTA AAGTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATG TGAAGGTTTGTTAAAGAAACACGTGCCATGGGGGTTTATCAACTTTCAAT ATTGTGTATGTTCCTTAATTTTAGAAAAAGTCTCAAAAATGAGAGAGAGA CTATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAGTTTAATTTCTC CTAAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGAAGGTTTGTTAA AGAAACACGTGTCATGGGGGTTTATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(150): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0009 a0001c0010 others(5): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0002c0002 a0003c0003 a0007c0007 a0009c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0002c0002t0010 a0003c0003t0001 a0007c0007t0001 a0009c0015t0001	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0025g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0025g0000 a0001c0009t0001g0000 a0001c0010t0001g0000 a0001c0013t0001g0000 a0002c0002t0010g0000 a0003c0003t0001g0000 a0007c0007t0001g0000 a0009c0015t0001g0000	153	358	0.4274	375	c.19 others(384): Show c.193_*567dupGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTAAA GTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATGTG AAGGTTTGTTAAAGAAACACGTGCCATGGGGGTTTATCAACTTTCAATAT TGTGTATGTTCCTTAATTTTAGAAAAAGTCTCAAAAATGAGAGAGAGACT ATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAGTTTAATTTCTCCT AAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGAAGGTTTGTTAAAG AAACACGTGTCATGGGGGTTTATCAACTTTCAATATTGTGTATGCTCCTT AATTTTAAAAAAGTCTCAAAAATGAGAGAGTGAGAGACT	DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1	568	INFO_REALIGN_3_PRIME	chrX	TogoVar
DDX53_chrX_22994960_23008589	23002080	A A	AAACTTTC others(368): Show AAACTTTCAATATTGTGTATGCTCCTTAATTTTAAAAAAGTCTCAAAAAT GAGAGAGTGAGAGACTGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTA AAGTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATG TGAAGGTTTGTTAAAGAAACACGTGCCATGGGGGTTTATCAACTTTCGAT ATTGTGTATGTTCCTTAATTTTAGAAAAAGTCTCAAAAATGAGAGAGAGA CTATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAGTTTAATTTCTC CTAAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGAAGGTTTGTTAA AGAAACACGTGTCATGGGGGTTTATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0000 a0001c0001t0023g0000	1	358	0.0028	375	c.32 others(384): Show c.323_*324insGATATTGTGTATGTTCCTTAATTTTAGAAAAAGTCT CAAAAATGAGAGAGAGACTATGTGAAGAGAAGGTAAATGTTATGTGTTGG TTAAAGTTTAATTTCTCCTAAAAATACTTTTATTTTAGGTTTGGGGGTAT TTGTGAAGGTTTGTTAAAGAAACACGTGTCATGGGGGTTTATCAACTTTC AATATTGTGTATGCTCCTTAATTTTAAAAAAGTCTCAAAAATGAGAGAGT GAGAGACTGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTAAAGTTTAA TTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATGTGAAGGTT TGTTAAAGAAACACGTGCCATGGGGGTTTATCAACTTTC	DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1	324	INFO_REALIGN_3_PRIME	chrX	TogoVar
DDX53_chrX_22994960_23008589	23002476	C C	CTCCTTAA others(368): Show CTCCTTAATTTTAAAAAAGTCTCAAAAATGAGAGAGTGAGAGACTGTGTG AAGAGAAAGTGAATGTTACGTGTTGGTTAAAGTTTAATTTCTCTTAAAAA TACTTTTATTTTAGGTTTGGGGGTATATGTGAAGGTTTGTTAAAGAAACA CGTGCCATGGGGGTTTATCAACTTTCAATATTGTGTATGTTCCTTAATTT TAGAAAAAGTCTCAAAAATGAGAGAGAGACTATGTGAAGAGAAGGTAAAT GTTATGTGTTGGTTAAAGTTTAATTTCTCCTAAAAATACTTTTATTTTAG GTTTGGGGGTATTTGTGAAGGTTTGTTAAAGAAACACGTGTCATGGGGGT TTATCAACTTTCAATATTGTGTATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(119): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG01070.hp2 HG01106.hp1 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18997.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19065.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19082.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0010c0012	a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 others(10): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0003c0003t0002 a0003c0003t0008 a0003c0003t0011 a0004c0004t0004 a0004c0004t0012 a0004c0004t0015 a0005c0005t0002 a0005c0005t0007 a0010c0012t0002	a0001c0001t0002g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 others(10): Show a0001c0001t0002g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0013g0000 a0003c0003t0002g0000 a0003c0003t0008g0000 a0003c0003t0011g0000 a0004c0004t0004g0000 a0004c0004t0012g0000 a0004c0004t0015g0000 a0005c0005t0002g0000 a0005c0005t0007g0000 a0010c0012t0002g0000	122	358	0.3408	375	c.56 others(384): Show c.567_*568insGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTAAA GTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATGTG AAGGTTTGTTAAAGAAACACGTGCCATGGGGGTTTATCAACTTTCAATAT TGTGTATGTTCCTTAATTTTAGAAAAAGTCTCAAAAATGAGAGAGAGACT ATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAGTTTAATTTCTCCT AAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGAAGGTTTGTTAAAG AAACACGTGTCATGGGGGTTTATCAACTTTCAATATTGTGTATGTTCCTT AATTTTAAAAAAGTCTCAAAAATGAGAGAGTGAGAGACT	DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1	568	INFO_REALIGN_3_PRIME	chrX	TogoVar
DDX53_chrX_22994960_23008589	23002476	C C	CTCCTTAA others(368): Show CTCCTTAATTTTAAAAAAGTCTCAAAAATGAGAGAGTGAGAGACTGTGTG AAGAGAAAGTGAATGTTACGTGTTGGTTAAAGTTTAATTTCTCTTAAAAA TACTTTTATTTTAGGTTTGGGGGTATATGTGAAGGTTTGTTAAAGAAACA CGTGTCATGGGGGTTTATCAACTTTCAATATTGTGTATGTTCCTTAATTT TAGAAAAAGTCTCAAAAATGAGAGAGAGACTATGTGAAGAGAAGGTAAAT GTTATGTGTTGGTTAAAGTTTAATTTCTCCTAAAAATACTTTTATTTTAG GTTTGGGGGTATTTGTGAAGGTTTGTTAAAGAAACACGTGTCATGGGGGT TTATCAACTTTCAATATTGTGTATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0000 a0002c0002t0020g0000	1	358	0.0028	375	c.56 others(384): Show c.567_*568insGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTAAA GTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATGTG AAGGTTTGTTAAAGAAACACGTGTCATGGGGGTTTATCAACTTTCAATAT TGTGTATGTTCCTTAATTTTAGAAAAAGTCTCAAAAATGAGAGAGAGACT ATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAGTTTAATTTCTCCT AAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGAAGGTTTGTTAAAG AAACACGTGTCATGGGGGTTTATCAACTTTCAATATTGTGTATGTTCCTT AATTTTAAAAAAGTCTCAAAAATGAGAGAGTGAGAGACT	DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1	568	INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2C_chr10_269201_694668	321701	G G	GCTGTTAG others(368): Show GCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCAGTG TTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAG ACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCA GCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGG GCTCCAGTGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG TGCGGGGCTCCGGCGAGAGACCGGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0046 a0001c0006t0002g0046	1	88	0.0114	375	c.392 others(394): Show c.3924+5304_3924+5305insTGCCGGTCTCTCGCCGGAGCCCCGCA CCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCTCTCGCTGGAG CCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGTCTCTCACTGGAGC CCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCTCTCG CTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGTCTCTCGC TGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGT CTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAA CACTGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1450197	C C	CGAGGTGG others(368): Show CGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGA GGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGT GGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGG CGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCT CGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGTCTCGG TGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGG CTGAGGCGGAGCTGTGAGGGTGAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG03710.hp1 others(1): Show HG01496.hp1 HG02698.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 a0001c0002 a0002c0001 a0002c0004	a0001c0002t0010 a0002c0001t0003 a0002c0004t0003 others(1): Show a0001c0002t0010 a0002c0001t0003 a0002c0004t0003 a0002c0004t0018	a0001c0002t0010g0008 a0002c0001t0003g0022 a0002c0004t0003g0009 others(1): Show a0001c0002t0010g0008 a0002c0001t0003g0022 a0002c0004t0003g0009 a0002c0004t0018g0010	4	40	0.1000	375	c.107 others(394): Show c.107-51169_107-51168insGAGGTGGGCGGCCTCGGTGGCTGAGG CGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGG AGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGC TGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGT GAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAG GGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGT GAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAA GACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450197	C C	CGAGGTGG others(368): Show CGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGA GGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGT GGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGG CGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCT CGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGG TGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGG CTGAGGCGGAGCTGTGAGGGTGAAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	375	c.107 others(394): Show c.107-51169_107-51168insGAGGTGGGCGGCCTCGGTGGCTGAGG CGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTG AGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGC TGTGAGGGTGAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCTGAGCTGT GAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAG GGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGT GAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAA GACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DMD_chrX_31114222_33216549	32554832	G G	GAGAAGGT others(368): Show GAGAAGGTAAGAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAA AGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0030 a0030	a0030c0029 a0030c0029	a0030c0029t0001 a0030c0029t0001	a0030c0029t0001g0071 a0030c0029t0001g0071	1	126	0.0079	375	c.199 others(394): Show c.1993-9499_1993-9498insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTCTTACCTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMKN_chr19_35492220_35518649	35500156	T T	TCACGTGT others(368): Show TCACGTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0185 a0003c0003t0001g0185	1	442	0.0023	375	c.128 others(392): Show c.1288-128_1288-127insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACACGTG	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	12/15			chr19	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAC others(368): Show TCCACCACCTCCACCATCACCATCACCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCATCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0053 a0053	a0053c0082 a0053c0082	a0053c0082t0001 a0053c0082t0001	a0053c0082t0001g0228 a0053c0082t0001g0228	1	256	0.0039	375	c.323 others(392): Show c.3234+759_3234+760insTCACCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400382	T T	TCACCACC others(368): Show TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCAC CACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCA CCTCCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACC ATCACCATCACCTCCACCTCCACCATCACCACCACCACCTCCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCTTCACCA TCACCATCACCTCCACCTCCACCATCACCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp2 NA19074.hp2 HG02083.hp2 HG02129.hp2 NA19074.hp2	a0002 a0011 a0002 a0011	a0002c0104 a0011c0165 a0011c0166 a0002c0104 a0011c0165 a0011c0166	a0002c0104t0005 a0011c0165t0001 a0011c0166t0005 a0002c0104t0005 a0011c0165t0001 a0011c0166t0005	a0002c0104t0005g0045 a0011c0165t0001g0215 a0011c0166t0005g0017 a0002c0104t0005g0045 a0011c0165t0001g0215 a0011c0166t0005g0017	3	256	0.0117	375	c.323 others(394): Show c.3234+1128_3234+1129insCCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCTCCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCATCACCACCACCTCCACCATCACCACCACCACCACCTCCACC ATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400619	A A	ACCATCAC others(368): Show ACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACC ACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTC CACCATCATCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCAT CACCACCACCTCCACCACCACCACCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0001 a0015 a0001 a0015	a0001c0033 a0015c0034 a0001c0033 a0015c0034	a0001c0033t0004 a0015c0034t0004 a0001c0033t0004 a0015c0034t0004	a0001c0033t0004g0125 a0015c0034t0004g0128 a0001c0033t0004g0125 a0015c0034t0004g0128	2	256	0.0078	375	c.323 others(394): Show c.3234+1363_3234+1364insTCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCATCACCACCTCCTTCACCATCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCTCCTCCATCACCA CCACCATCTTCACCATCACCACCTCCTTCACCATCACCATCACCACCACC TCCACTATCACCACCACCTCCACCATCATCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCC TTCACCATCACCATCACCATCACCACCACCTCCACCACCACCACCTCCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(368): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGT ATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGT ATATATATATAGTATATATATAGTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	316	0.0032	375	c.355 others(394): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(368): Show ATATATACTATATATATATAGTATATATATACTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATA GTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0191 a0001c0002t0006g0191	1	316	0.0032	375	c.355 others(394): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATACTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(368): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGT ATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGT ATATATATATAGTATATATATAGTAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0181 a0001c0002t0004g0181	1	316	0.0032	375	c.355 others(394): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(368): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGT ATATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTAT ATATAGTATATATGTATATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	316	0.0032	375	c.355 others(394): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DYNC2I1_chr7_158851558_158951189	158916934	G G	GTCGCTGG others(368): Show GTCGCTGGTTGACATTAAGGATGACTGTGAAACATCGACAGGCTGGTTGA CATTAAGGATGATTGTGAAACCTCGACATGCTGGTTGAGATTAAGGATGA TTGTGAAACCTCGACACAGTGGTTGATATTAAGGATGATTGTGAAACCTC TACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GAGATCAAGGATGATTGTGAAACCTCGACACGCTGGTTGACATTAAGGAT GATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACG TCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCTACACGCTGG TTGACGTTAAGGATGATTGTGAAACC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	274	0.0037	375	c.179 others(394): Show c.1792-1804_1792-1803insGCTGGTTGACATTAAGGATGACTGTG AAACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACAT GCTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATAT TAAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCGAC ACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAC ATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGAT TGTGAAACGTCTACACGCTGGTTGACGTTAAGGATGATTGTGAAACCTC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCC CACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0187 a0001c0001t0031g0187	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGCCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0111 a0001c0002t0019g0111	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGCCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp2 others(47): Show HG00140.hp2 HG00423.hp1 HG00438.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02004.hp2 HG02071.hp2 HG02273.hp2 HG02523.hp2 HG02698.hp1 HG03130.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18974.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA19002.hp2 NA19009.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0014 a0001c0002t0019 others(6): Show a0001c0002t0002 a0001c0002t0014 a0001c0002t0019 a0001c0002t0020 a0001c0002t0032 a0001c0002t0034 a0001c0002t0035 a0001c0002t0038 a0001c0003t0005	a0001c0002t0002g0004 a0001c0002t0002g0012 a0001c0002t0002g0015 others(31): Show a0001c0002t0002g0004 a0001c0002t0002g0012 a0001c0002t0002g0015 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0190 a0001c0002t0014g0004 a0001c0002t0014g0012 a0001c0002t0014g0036 a0001c0002t0019g0123 a0001c0002t0020g0030 a0001c0002t0020g0104 a0001c0002t0032g0035 a0001c0002t0034g0004 a0001c0002t0035g0004 a0001c0002t0038g0035 a0001c0003t0005g0144 a0001c0003t0005g0145	50	422	0.1185	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02523.hp1 HG04115.hp1 others(2): Show HG02135.hp2 HG02523.hp1 HG04115.hp1 HG04199.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0062 a0001c0001t0004 a0001c0001t0009 a0001c0001t0062	a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0096 others(2): Show a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0096 a0001c0001t0009g0077 a0001c0001t0062g0071	5	422	0.0119	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0193 a0001c0002t0014g0193	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGAGCTGACCCCCC CACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGAGCTGACCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0139 a0001c0003t0005g0139	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(77): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02683.hp2 HG03017.hp1 HG03239.hp1 HG03688.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp2 NA19084.hp1 NA19085.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0030 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0066 a0001c0002t0002 a0001c0006t0007 a0002c0005t0001 a0003c0004t0007	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0051 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0260 a0001c0001t0004g0070 a0001c0001t0004g0097 a0001c0001t0007g0001 a0001c0001t0007g0007 a0001c0001t0007g0205 a0001c0001t0007g0239 a0001c0001t0012g0098 a0001c0001t0017g0017 a0001c0001t0017g0258 a0001c0001t0023g0001 a0001c0001t0023g0236 a0001c0001t0030g0215 a0001c0001t0040g0017 a0001c0001t0045g0001 a0001c0001t0046g0007 a0001c0001t0047g0235 a0001c0001t0054g0001 a0001c0001t0058g0017 a0001c0001t0059g0053 a0001c0001t0060g0237 a0001c0001t0066g0229 a0001c0002t0002g0021 a0001c0006t0007g0212 a0002c0005t0001g0051 a0003c0004t0007g0233	80	422	0.1896	375	c.145 others(392): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01175.hp2 others(25): Show HG00642.hp1 HG00738.hp1 HG01175.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG02080.hp2 HG02300.hp1 HG02922.hp1 HG03490.hp2 NA18939.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18973.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA18999.hp1 NA19007.hp1 NA19011.hp1 NA19063.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0056 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0007g0019 a0001c0001t0007g0220 a0001c0001t0007g0261	28	422	0.0664	375	c.145 others(392): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407982	G G	GCTGACCC others(368): Show GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTT CCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCG GAAGGGGTGGCTGGCTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	422	0.0024	375	c.145 others(392): Show c.145+3466_145+3467insTGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGG CGGCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCTGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCGGAAGGGGTG GCTGGCTGGGCGGGGGACTGACCCCCCCACCTCCCTCCCGGACGGGG	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408025	C C	CGGGGGGC others(368): Show CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCACCTC CCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTCC CTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0137 a0001c0003t0005g0137	1	422	0.0024	375	c.145 others(392): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCAC CTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408042	C C	CCCACCTC others(368): Show CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGG GCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGC GGCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCTGGACGGGGCG GCTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCGGAAGGGGTGG CTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0055 a0001c0001t0013 a0001c0001t0055	a0001c0001t0013g0083 a0001c0001t0055g0084 a0001c0001t0013g0083 a0001c0001t0055g0084	2	422	0.0047	375	c.145 others(392): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCG	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2			chr10	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(368): Show AGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0194 a0003c0002t0001g0194	1	288	0.0035	375	c.190 others(394): Show c.1909+7088_1909+7089insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTG GTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM234A_chr16_229821_271096	267528	A A	ACACACAC others(368): Show ACACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTACAC ACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTA CACATGCCTCATACACATGACACGTGCACACACCACATATGCATGCCTCA GTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCGTACAC ACCACACGTGTGCCTCACAGTGCTACACATGCATCCTACACGACACGTGC ACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGCACTAC ACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTA CACATGCCTCATACACACGACACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0373 a0002c0003t0001g0373	1	408	0.0025	375	c.25 others(386): Show c.2506_*2507insCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTACACACAATCACACGTGCTATGCATACACACCACACGTG TGCCTCACAGTGCTACACATGCCTCATACACATGACACGTGCACACACCA CATATGCATGCCTCAGTACACCTGCACACGTGCACTAAACACAATCACAC ATGCTATGCGTACACACCACACGTGTGCCTCACAGTGCTACACATGCATC CTACACGACACGTGCACACACACCACACATGCATGCCTCACAGTACACCT GCACACGTGCACTACACACAATCACACATGCTATGTGTACACACCACACG TGTGCCTCAGTGCTACACATGCCTCATACACACGACACGTG	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1433		chr16	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(368): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATGCATGCCTCAGTACACCTGCAC ACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTGTG CCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCACA CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC ATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTCAT ACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00673.hp2 others(15): Show HG00099.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01106.hp2 HG01109.hp2 HG02056.hp2 HG02080.hp2 HG02523.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG03239.hp2 NA18939.hp1 NA18952.hp2 NA18966.hp1 NA18972.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0022 a0010c0025	a0001c0001t0003 a0001c0002t0002 a0001c0009t0003 others(2): Show a0001c0001t0003 a0001c0002t0002 a0001c0009t0003 a0001c0022t0003 a0010c0025t0003	a0001c0001t0003g0078 a0001c0001t0003g0096 a0001c0001t0003g0213 others(15): Show a0001c0001t0003g0078 a0001c0001t0003g0096 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0253 a0001c0001t0003g0275 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0355 a0001c0002t0002g0255 a0001c0002t0002g0330 a0001c0009t0003g0257 a0001c0009t0003g0292 a0001c0022t0003g0216 a0010c0025t0003g0291	18	408	0.0441	375	c.25 others(386): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATGCATGCC TCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCGTA CACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTACACGACACG TGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAGTG CTACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FAM234A_chr16_229821_271096	267552	A A	ACAGTACA others(368): Show ACAGTACACCTGCACACGTGCACTACACACAATCACACGTGCTATGCATA CACACCACACGTGTGCCTCACAGTGCTACACATGCCTCATACACATGACA CGTGCACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTA AACACAATCACACATGCTATGCGTACACACCACACGTGTGCCTCACAGTG CTACACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCC TCACAGTACACCTGCACACGTGCACTACACACAATCACACATGCTATGTG TACACACCACACGTGTGCCTCAGTGCTACACATGCCTCATACACACGACA CGTGCACACACCACATATGCATGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0248 a0001c0001t0010g0250 a0001c0001t0010g0248 a0001c0001t0010g0250	2	408	0.0049	375	c.25 others(386): Show c.2530_*2531insCAGTACACCTGCACACGTGCACTACACACAATCA CACGTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGC CTCATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACC TGCACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACAC GTGTGCCTCACAGTGCTACACATGCATCCTACACGACACGTGCACACACA CCACACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAAT CACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGC CTCATACACACGACACGTGCACACACCACATATGCATGCCT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1457		chr16	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(368): Show GGGGAGAGGGAGAGGGAGAGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGAGAACGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGGGAGAGGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	370	0.0027	375	c.39 others(386): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCGCC TCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCCTCTCC CTCTCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCTCTCCCTCTCCCTCTCCCGTTCTCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCC CGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCCGTCTCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FOXJ3_chr1_42171548_42340235	42222046	G G	GAGAAGGA others(368): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGCA GGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGA AGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAG AAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCA GAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGA AGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGCAG AAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAA GAAGAAGCAGAAGAAGAAGAAGCAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	332	0.0030	375	c.528 others(392): Show c.528+5836_528+5837insTCTGCTTCTTCTTCTTCTGCTTCTTCTT CTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCT GCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTC TCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTG CTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42222046	G G	GAGAAGGA others(368): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	332	0.0030	375	c.528 others(392): Show c.528+5836_528+5837insTCTTCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(368): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCCGCC CACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCT CCTCCCGCCTCCCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTC CCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCT CCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTC CAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCT CCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	375	c.33 others(386): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTC CCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCCAGCCTACCCCCTCCCC CCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCAC CCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCAC TCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCC CCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(368): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCT CCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCCTCC CGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCTCCCGCCT CCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTC CAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCT CCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	406	0.0025	375	c.33 others(386): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTC CCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCC GCCCACCCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC CCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCAC TCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCC CCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46145773	T T	TCCCCCCC others(368): Show TCCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCC TCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCC CTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGC GCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCA CCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCACCCTCCCC TTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGTG CCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGTTCCCCCTC CCCGCCCTCCCCCCAACAGCGCCCTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	230	0.0044	375	c.109 others(390): Show c.1098+44_1098+45insGAGGGCGCTGTTGGGGGGAGGGCGGGGAGG GGGAACGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACA GTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGG AGGGTGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGG GGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAG TTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGA GGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GALNT17_chr7_71127144_71718599	71680082	T T	TCCCTCCC others(368): Show TCCCTCCCTCTCTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCT CCTGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	76	0.0132	375	c.150 others(394): Show c.1500+2778_1500+2779insCTCCCTCTCTCCTTCCTCCCTCCCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCGCTCTCTCTTCCTCCCTCCTGCTCTCTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(368): Show CCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	290	0.0035	375	c.427 others(392): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCC CCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653220	T T	TCCTCCCC others(368): Show TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCC CCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCT CCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCC TCCTCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0038 a0001c0001t0007g0038	1	290	0.0035	375	c.427 others(392): Show c.427-1053_427-1052insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC CCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCC CCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCC CCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results