Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DCC_chr18_52335197_53540899	53085986	CTTCTCCT others(580): Show CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCT TTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19057.hp1 HG02572.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0020 a0001c0002 a0002c0020	a0001c0002t0005 a0002c0020t0007 a0001c0002t0005 a0002c0020t0007	a0001c0002t0005g0028 a0002c0020t0007g0113 a0001c0002t0005g0028 a0002c0020t0007g0113	2	113	0.0177	-587	c.126 others(21): Show c.1261+19825_1261+20411del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DMRT1_chr9_836697_974090	871681	AGCCAGGA others(580): Show AGCCAGGATGGTCTCAATCTCCTGACCTCGTGATTCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCAACCGTGCCTGGCCGGCCTAG TCTTTGAACTCTTAAAGCTGCATTTCTTTTGGAAGATGGCCCAGCATTTT TGTCTGATTCTTCAAGGAGTCTGTGACCTAAAAAGTATTAAGAACCACTG CTTTGAGTTTAAAACGATGGCCCTTTTCCAACAACTACCATTTCTTGTTA TATTTTCTTCATCTCTCTATATACCTATTTACATTTTTCTATTGATTTCT GAGTAAATAGGAAGCAGACTTTATATTATTTGAGACCCTTCTAAAAATAA CTTACTGAGGTATAATTTACATGCCATAAAACTCACCATCTTTTTTTTTG TGATGGCATCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCTTGATTTC GGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTGAG CCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGGCTAATT TTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01891.hp1 others(4): Show HG00741.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02976.hp1 HG03139.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0002c0002t0003 a0002c0005t0005 a0002c0005t0020	a0001c0001t0004g0116 a0001c0001t0007g0255 a0001c0001t0016g0267 others(4): Show a0001c0001t0004g0116 a0001c0001t0007g0255 a0001c0001t0016g0267 a0002c0002t0003g0254 a0002c0005t0005g0018 a0002c0005t0005g0019 a0002c0005t0020g0020	7	304	0.0230	-587	c.539 others(19): Show c.539-22224_539-21638del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC5_chr20_63890126_63941011	63919381	CGCACCCG others(580): Show CGCACCCGGCTGTGTGGACATGTGCCCAGGGCCCAGGACAGCGCCACGGA AGAGGACACACCCGGCTGTGTGGACATGTGCCCAGGGCCCGGGACAGCGC CACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCCCGGGA CAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGC CCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCC CAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGGACA TGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACAGGACAGCG CCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCCCGGG ACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGG CCCGGGACAGCGCCATGGAAGAGGACGCACCCGGCTGTGTGCACATGTGC CCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCAC ATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	370	0.0027	-587	c.-11 others(17): Show c.-11-8920_-11-8334del	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64011987	TCTTTCTT others(580): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGG AAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAG GAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00673.hp1 others(27): Show HG00140.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02523.hp2 HG02738.hp1 HG03239.hp1 HG03491.hp1 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA19005.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0001 a0002c0006t0001 a0001c0001t0001 a0001c0003t0001 a0002c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0003t0001g0002 a0002c0006t0001g0022	30	292	0.1027	-587	c.152 others(18): Show c.1524+774_1524+1360del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
VGLL4_chr3_11551069_11648915	11604396	CTAAGACT others(580): Show CTAAGACTGTGCAGCCTCACACAAGGCTTACAGCAAAGGAAAAGAATCCG CACATAAGGTCAGGGACAGGTCCGTTCAGTTATGTGCCTTTATGCATCTT TGGGGCCCCTCCCTAGATGGCCTTAACCCAACACTTGTATGTTAGACAAG AGTGGTAACTGTTGTATGTGTGGTGGGGTTAAAATTATTTTTGTAAAACT GAAGCAGACATTTGTTCTGGGAGATAAGACACTTGCATTGCAATCTTGAC TCCTCCTTTATTTAGGATGGGGTGAATTTGGGCACGTGCTTCCCCTCTCT GGGCCTCCCTCCATACAACAAGGGGCTGGACTAGCTAATGTGTCATGTTC TTTCCAGCTCTTAGAATTACTGATGCAATTCTATGATCAACAAGTGACCA ACCAACTAACCAACATTTACAAAGAAATTGCTACTTGTGTAATGGTGAAC TAAGACAGCAAAACTCAAGGTATGTACCTCAGATGTTATTCATCGAAAAA AACAAGGGTGACCCTGGGGTCAAATAAATTTGGAAACCGTGAGATTGAAC AACTTTTACAGGAGTTTAACTACAGGCCTTTCTGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	386	0.0026	-587	c.83- others(15): Show c.83-2961_83-2375del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
ZNF516_chr18_76352682_76500242	76393475	CGGGTGGT others(580): Show CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0268 a0001c0001t0015g0268	1	344	0.0029	-587	c.181 others(21): Show c.1811-13759_1811-13173del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BABAM2_chr2_27885729_28343901	28136896	ATGAGTAA others(579): Show ATGAGTAAGGATATTACATTCGGATAAATTGGATCAAATACGTTTTTTAA AAGCAATAAGCAAGTTAAATATATTGGTATATGTGATTTTATTTACCACC AAATTTGATATCTTAACAGAATGGAAAATTTTTATTTTAGATGCTTAAAA TATTTTTAAAACAATGAGAAAAATTGTATAACTAACAGGTATAGATTTTA AAGAAAAAAATTCTTGCCTTGAAAAAAAATCCGTATCAGTCTTCTCAAAA AAGAGACCTTCCAGATCTCTTAGGCTGATTTTGTGTCAGGATTTAAGTAA TAGAACGTAATAGTAAACATGGTTTAATTTAGCCTTACTCATGTTTTCTC GAGTCACTGAGATAATCCTATAATAAATATTGTGCTCCTGGAGAGTTTTT TTCTTTAGTCCTTTGATAAATAGATGGTCCTGAGTATGCTAAGACAGCCA GCTCTCAGGAGAAGATATGTATTTGATTTTGGTAGAGAGAGCTGTCTTAT CCTCTAGGGACTTGAGATGTTCGTTTTACTAGTCTGGGAGCAGGGCCAAA AGGGTTCTTCATGACTTAGAATGGAATTCTGAAAAGT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	156	0.0064	-586	c.680 others(17): Show c.680+7517_680+8102del	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15933360	GTGAGGAG others(579): Show GTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAG GAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGA GTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA GAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGA GTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAA GAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGA GTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAA GAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGA GTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAA GAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGA GTGAGCAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGTGGGCAGAG GAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0287 a0001c0002t0005g0287	1	384	0.0026	-586	c.198 others(15): Show c.198+265_198+850del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
GRIA4_chr11_105605073_105987090	105891942	TATTGTAA others(579): Show TATTGTAATTGTTTTTGTTATTATAATTGCTTTAATTTGGCCTTGAAAAA GATTTTTAATAGATACAAAAATGAGGTTCAGTGTAATTTACCCAAGATCT CGCAGATCTGAATTCTCAAAGAAAAGTTTGAAGCTCTGGCCTGTCTGATT GCAAAGAATAAATACACAAAAAAATAAATAACTTAGGGAATAATGCCACC AAGTGACCATTTACTTAATCATCTCCCACAGCACCCGTCAGGGGGACCTA ATATTAAACACATTGCTCTGTATTGATATTCACTCCTCTACCAGTCAAAT AATTTAAATATGGCCACCAATAGCAAAAAGGAACAGTTGACATTTGTCCC ATTACCAAGACAAATTCTTAGAATCTTGTTCTCCTTTAGATTTTTTATTT AAAAAGTATTATTTAATTTACATCTAGGAGAACACCTGGCTCAATCATTA AAAAGATATAAAATTACAAAATGTTCTGGATATATAATTAAAGATGAACT GAACCTATTTCTTACCTATCCTCCACCATGTCACACACATATACCACTCA CGCCTCATTCAGAACATAAAGGAAATTAAACATTAGG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0004 a0001c0001t0046g0004	1	182	0.0055	-586	c.726 others(17): Show c.726+4373_726+4958del	GRIA4	ENSG00000152578.15	transcript	ENST00000282499.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRORP_chr14_35117552_35282622	35233086	ACTTCAGT others(579): Show ACTTCAGTTTCCCCTTTTCTTTTCATTCGTCAACCCATTCGGCAAATACT TATTGATCATCATAAGCATCAGGCCCTGTTTTTTGCGCCAGGGATACACC AATGAATTAAGTAGAGAAAACTCCCTTCACTCATGGAGCTAACATTGTTT CTGATAGGTACTTACCATCGGCTACGGCATTGCATAACTCTAGAGTATTA TTTTTCTACATCTCTCTTCCTAATAAATATATGAATTGTAACTTTGTCTC TAGAATTGTTGTAGAGACAATGAATATTGCCTCTAGAGTTGTTCAGTGCA CAGCCAGCTTAGTTCTATACAGTAGTCTTATCTACTGTGCTTAATTAGGA TGTCTGTCAAAACTAATTTCCTATAGTAAAATCAGTCAGCTTCCACATTC TAACAATTGCCAACGTGCAATCCCTTCGTTTAAGAAAAGCATGCAGTCCT CTCCATGGTGCAAGGGTGGAAGAGGATTTTGTGGAGAAATCATCCTTTGT ATTTCCTCAGATTACCTGTGTTAGGCCACCCTAAAATTTGCTTGTTGCTT CTTTCTTTACCTTCTACAGTATTGAAGGATTTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01346.hp2 others(12): Show HG00639.hp2 HG01074.hp1 HG01346.hp2 HG01361.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02148.hp1 HG02273.hp1 HG02451.hp2 HG02572.hp2 HG03516.hp1 HG03942.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0003 a0001c0001t0030 a0005c0011t0037 a0001c0001t0003 a0001c0001t0030 a0005c0011t0037	a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0003g0082 others(12): Show a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0313 a0001c0001t0030g0073 a0005c0011t0037g0129	15	312	0.0481	-586	c.127 others(21): Show c.1276-33637_1276-33052del	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC39B_chr9_15158622_15312216	15285165	GGGCTGAG others(579): Show GGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGA GCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCG TCTCAAAAAGAAAAAAAAAAAAAAGATCCTTTCATGCCCAGTGTATTTGT TTGTTTACTTTCAGTCTCTAGACAACTTTTTAAAAACTTTTTATTTAGAA ATAAGTTCAAACTTACCAAAAAGTTGCCAGAATAAGAATATACACACAAC GAAATGATAAATGCTTGAAGTAATAGATACCCCAATTACCCTGATGTGAT TACTACACATTGTATGCCTGTAGCAAAATATCACATGTACCGTATAAATG TATACGCCTATTATGTACCCATAATTAAGAATTGTTTTAATTTTTAAAAG AATATACAGGCCGGGAGCGGTGGCTCACGCCTGTAATCCCTGCACTTCGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGC TAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CTTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp2 NA18968.hp2 others(1): Show HG00621.hp1 HG02027.hp2 NA18968.hp2 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0011 a0002c0002t0104 a0001c0001t0001 a0002c0002t0011 a0002c0002t0104	a0001c0001t0001g0144 a0002c0002t0011g0166 a0002c0002t0011g0176 others(1): Show a0001c0001t0001g0144 a0002c0002t0011g0166 a0002c0002t0011g0176 a0002c0002t0104g0169	4	255	0.0157	-586	c.43- others(17): Show c.43-17803_43-17218del	TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	1/19			chr9	TogoVar
BPHL_chr6_3113711_3158578	3145400	TCCGAGTG others(578): Show TCCGAGTGCTGGTTCGGGTGGAGTGCTGGTTCAGGGTGGAGCGCTGGTTC GGGGTGGAGTGCTGGTTTGGGTTTGAATGCTGATTCGGGGTGGAGTGCTG GTTCGGGGTGGAGTGCTGGTTCAGGGTGGAGTGCTGGTTCCGGTTGGAGT GCTGGTGTGGGTTGGAGTGCTGGTGTGGGTCGGAGTGCTGGTTTGGGTCG GAGTGCTGGTTTGGGTCGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCGGG GTGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGTCGAGTGCTGGTTC AGGTTGGAGTGCTGGTTCCAGCTGGAGTGCTGGTTTGGGTCGAGTGCTGG TTTGGGTCGAGTGCTGGTTCAGGTTGGAGTGCTGGTTCCGGCTAGAGTGC TGGTTTGGGTCGAGTGCTGGTTTGGGTCGAGTGCTGGTTCAGGTTGGAGT GCTGGTTCCGGCTGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGTCG AGTGCTGGTTTGGGTTGGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCCAG CTGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 NA19240.hp2 HG00639.hp2 HG02809.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0197 a0001c0001t0004g0036 a0001c0001t0004g0197	3	348	0.0086	-585	c.788 others(17): Show c.788+4892_788+5476del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6			chr6	TogoVar
CACNA1C_chr12_2047987_2702950	2105709	GCTGGGCA others(578): Show GCTGGGCATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACC TCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCC ACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCACCCTGGGGAGGGTT TCCACCTCAGCTGGGCATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGG GTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGG AGGGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCC GGGGAGGGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCA CCCTGGAGAAGGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGC CCACCCTGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGG CGCCCACCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACT GGGTGCCCACCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCC ACTGGGCGCCCACCCCGGGGAGGATTTCTACCTCAT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03209.hp2 HG02886.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0024 a0001c0022t0014 a0001c0001t0024 a0001c0022t0014	a0001c0001t0024g0079 a0001c0022t0014g0050 a0001c0001t0024g0079 a0001c0022t0014g0050	2	104	0.0192	-585	c.50- others(15): Show c.50-9509_50-8925del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNR2_chr1_23865515_23918362	23897126	CAGCCTCC others(578): Show CAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGCACCCTGCCA GGAGTGGTTTTTTGATGAGATCTCAAAAGGTCCTTCAAACATGGCAGTTA TGCAATTAATCACATGGGGCAGAAAACAGGGGTGTTGTCAGATTGCAAAA GAGCTGGCGAGAGAAAGGCAGATCACGAAAGCCTGGGGCAGAAGTTCTCA AACTTCGTGGTCTCAGCGACCCTTTACCGTCTTAAAAGTTACCTTGGCAA TAAATAGCTTTTGTTGATGTAGGTTACACCTATTAGTACTTGCTGTATTA GAGACTAAAACTGAGAACTTAAAAAAAATTAATAATCCTATTGCATGTTA ATAGAATTTTTTTTTTTGAGACCGAGTCTCAGTCTGTCACCCAAGCTGGA GTGCAGTGGTGCGATCTCGGTTCAATGCAAACTCTGCCTCCCGGTTTCAA GCAATTCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACCACACCTGGC TAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCT GGTCTTGAACTCCTGACCTTGTGATCCACCCGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 NA18959.hp1 others(2): Show HG00544.hp2 HG00597.hp2 NA18959.hp1 NA19000.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0061	a0001c0001t0001g0077 a0002c0002t0002g0144 a0002c0002t0007g0016 others(2): Show a0001c0001t0001g0077 a0002c0002t0002g0144 a0002c0002t0007g0016 a0002c0002t0007g0034 a0002c0002t0061g0060	5	266	0.0188	-585	c.-46 others(19): Show c.-46+15535_-46+16119del	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CROCC2_chr2_240901336_240998311	240976151	TCTCTGGG others(578): Show TCTCTGGGGTAGGAGCCTCAGAAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTTATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG01109.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0139 a0002c0002t0002g0309 a0002c0002t0001g0139 a0002c0002t0002g0309	2	348	0.0057	-585	c.440 others(19): Show c.4402-6708_4402-6124del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240976984	TCCCAGGC others(578): Show TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp2 HG02897.hp1 others(3): Show HG01243.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03486.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0035 a0001c0001 a0026c0035	a0001c0001t0003 a0001c0001t0004 a0026c0035t0003 a0001c0001t0003 a0001c0001t0004 a0026c0035t0003	a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 others(3): Show a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0004g0307 a0001c0001t0004g0314 a0026c0035t0003g0233	6	299	0.0201	-585	c.440 others(19): Show c.4402-5875_4402-5291del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
EDIL3_chr5_83935554_84389880	84054868	AAAATGGC others(578): Show AAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCAT CAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGT TCATATGGAACCAAAAAATAGCCTGCATTGCAAATCAATCCTAAGCCAAA AGAACAAAGCTGGAGACATCACGCTACCTGACTTCAAACTGTACTACAAG GCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATACCGA CCAATGGAACAGAACAGAGCCCTCAGAAATAATAACACACATCTACAACT ATCTGATCTTTGACAAACCTGGCAAAAACAAGAAATGGGGAAAGGATTCC CTGTTTAACAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCT GAAACTGGATCCCTTCCTCGCACCTTATAAAAAATTAATTCAAGATGGAT TAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCGAGAAGAAAACC TAGGCTATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAA ACACCAAAAGCAATGGCAATAAAAGCCAAAATTGAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00639.hp2 others(20): Show HG00438.hp2 HG00558.hp1 HG00639.hp2 HG01168.hp1 HG01243.hp2 HG02015.hp2 HG02451.hp1 HG02523.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 NA18957.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 a0001c0007t0001	a0001c0001t0002g0053 a0001c0002t0001g0011 a0001c0002t0001g0064 others(20): Show a0001c0001t0002g0053 a0001c0002t0001g0011 a0001c0002t0001g0064 a0001c0002t0001g0079 a0001c0002t0001g0109 a0001c0002t0001g0128 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0002g0082 a0001c0002t0002g0101 a0001c0002t0003g0051 a0001c0002t0003g0070 a0001c0002t0003g0084 a0001c0002t0004g0062 a0001c0002t0004g0110 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0007g0057 a0001c0002t0008g0005 a0001c0002t0011g0001 a0001c0002t0014g0066 a0001c0007t0001g0134	23	156	0.1474	-585	c.113 others(19): Show c.1137+4847_1137+5431del	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
GALNT9_chr12_132191372_132334589	132241709	ACCCTTCC others(578): Show ACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCT TCCCGGGGCCCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCG GGGCCCTCCCTATACCCATTAAACACACAACACACCCCCTTCCAGGGGCC GTCCCTATCCCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCC TATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACA CACGCCACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGC CACACCCCCTTCCCGGGGCCTTCCCTGTACCCATTACACACACAACACAC ACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCCG GGGCCCTCCCTATACCCATTACACACACACCATACC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0175 a0001c0009t0002g0175	1	146	0.0068	-585	c.107 others(19): Show c.1077+5616_1077+6200del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132290770	ACCACAGC others(578): Show ACCACAGCACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCAC AGCACCCACGTCCACAGCGCACACGTCCACAGCACCCACAACCACAGCGC CCACGTCCACATCACCCACATCCACAGCACCCACGTCCACAGCACCCACA TCCAGAGCACCCACGTCCACACCACCCACATCCACAGCGCCCACATCCAC AGCACCCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCAC CCACATCCACAGCGCCCACGTCCACAGCGCCCACATCCTCAGCACCCACA ACCACAGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCAC AGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCACAGCAC CCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCACCCACA TCCACAGCGCCCACGTCCACAGCGCCCACGTCCTCAGCGCCCACAACCAC AGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCACAGCAC CCACATCCACAGCACCCACAACCACAGCACCCACGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(68): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00733.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18980.hp1 NA18999.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0026 a0001c0029 a0001c0034 a0001c0036 a0001c0038 a0002c0032	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0010 a0001c0008t0002 a0001c0009t0002 a0001c0010t0001 a0001c0011t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0003 a0001c0026t0014 a0001c0029t0003 a0001c0034t0004 a0001c0036t0003 a0001c0038t0001 a0002c0032t0002	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 others(68): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0150 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0100 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0005g0066 a0001c0002t0013g0021 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0005t0001g0088 a0001c0006t0001g0013 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0097 a0001c0006t0001g0142 a0001c0007t0001g0061 a0001c0007t0001g0103 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0007t0010g0108 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0011t0001g0058 a0001c0011t0001g0065 a0001c0015t0001g0067 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0148 a0001c0018t0001g0047 a0001c0019t0003g0077 a0001c0019t0003g0145 a0001c0026t0014g0052 a0001c0029t0003g0107 a0001c0034t0004g0158 a0001c0036t0003g0055 a0001c0038t0001g0046 a0002c0032t0002g0167	71	164	0.4329	-585	c.239 others(17): Show c.239-4925_239-4341del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132290845	TCCACAGC others(578): Show TCCACAGCACCCACAACCACAGCGCCCACGTCCACATCACCCACATCCAC AGCACCCACGTCCACAGCACCCACATCCAGAGCACCCACGTCCACACCAC CCACATCCACAGCGCCCACATCCACAGCACCCACAACCACAGCACCCACA ACCACAGTGCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCCAC AGCGCCCACATCCTCAGCACCCACAACCACAGCACCCACGTCCACATCAC CCACGTCCATAGCACCCACATCCACAGCACCCACATCCACAGCACCCACA ACCACAGCACCCACGTCCACAGCACCCACAACCACAGCACCCACAACCAC AGTGCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCCACAGCGC CCACGTCCTCAGCGCCCACAACCACAGCACCCACGTCCACATCACCCACG TCCATAGCACCCACATCCACAGCACCCACATCCACAGCACCCACAACCAC AGCACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCACAGCAC CCACGTCCACAGCGCACACGTCCACAGCACCCACAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0009 a0001c0035t0009	a0001c0035t0009g0140 a0001c0035t0009g0140	1	182	0.0055	-585	c.239 others(17): Show c.239-5000_239-4416del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GDF2_chr10_47317454_47332588	47328219	ATGAGTGA others(578): Show ATGAGTGATGTGTGTGCACACTGGGGTGAGTGATGTGTGTGCACCCTGGG GTGAGTGATGTGGTGTGTGCACATTGGGGTGAATGATGTGTGTGCACACT GGGGTGAGTGATGCAGTGTGTGCACACTGGGGTAATGTGTGTGCACACTG GGGTGAGTGATGTGTGTGCACACTGGGGTGAGTGATGTGGTGTGTGCACA CTGGGGTGAGTGATGTGTGCACACTGGAGTGAGTCATGTGTGCACACATT GGGGTGAGTGATGTGATGTGCACGCTGGTATGAGTGATGTGATGTGCACG CTGGGGTGAGTGATGTGTGTGCACACTGGGATGAGTGATCTGTGTGCACG CTGGGGTGAGTGATGTGTGTGCACACTGGGGTAAGTGATGTGTGTACACC CTGGGGTGAGTGATGTGTGTGCACACTGGGGCGAGTGATGTGTGTGCACC CTGGGGTGAGTGATGTGTGTGCACCCTGGGGTGAGTGATGTGATGTGCAC ACTGGGGTGAGTGATGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGTG CACACTGGAGTGAGTGATGTGATGTGCACACTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	380	0.0026	-585	c.24 others(11): Show c.2436_*3020del	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		632		chr10	TogoVar
IDI1_chr10_1034419_1054119	1047014	TCTACACC others(578): Show TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCT GGTCCTTTGTCTACACCACACAGCCCAGCTGCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	436	0.0046	-585	c.140 others(17): Show c.140+1265_140+1849del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63503903	TTGGTTAC others(578): Show TTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCGTGATGCC TCTGGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCGATGCAGGCTCTTT TTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAA GTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGG CAGTATGGCCATTTTCACAATATTGATTCTTCCTACCCATGAGCATGGAA TGTTCTTCCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTG TAGTTCTCCTTAAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAG GTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTCATGATTT GGCTCTGTTTGTCTGTTATTGGTGTATAAGAATGCTTGTGATTTTTGTAC ATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCCTATCAGCTTAAGGA GATTTTGGGCTGAGACGATGGGGTTTTCTAGATATACAATCATGTCATCT GCAAACAGGGACAGTTTGACTTCCTTTTTTCCTAAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02886.hp2 others(3): Show HG02572.hp1 HG02622.hp1 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 others(3): Show a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0003c0006t0001g0247	6	372	0.0161	-585	c.48+ others(15): Show c.48+4040_48+4624del	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	2/8			chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	6272529	GATTCAAC others(578): Show GATTCAACTAGGACTGAATATAAGGAACACAGAAGAGTTCTGACAGCCCC ACTGCATTAAACTGGTGGTTCTACAGAGCGGCGCCTTCAGGAGCACGGGG AAAGGGGGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGA ACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTG CCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTG AATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGT GGTTCTACAGAGTGGTGCCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGC AGATTCAACTAGGACTGAATATAAGGAATACAGAAGAGTTCTGACAGCCC CACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGG GAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAG AACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGT GCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	39	0.0256	-585	c.128 others(17): Show c.128-9076_128-8492del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272563	GAGTTCTG others(578): Show GAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGCGC CTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAAATTCAACTAGGACTGA ATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTG GTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCA AATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCC ACTGCATTAAACTGGTGGTTCTACAGAGTGGTGCCTTCAGGAGCATGGGG AAAGGGGGAGTTGTGCAGATTCAACTAGGACTGAATATAAGGAATACAGA AGAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTG CCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTG AATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGT GGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGC AAATTCAACTAGGACTGAATATAAGGAATACAGAAC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02809.hp2 NA18975.hp1 others(2): Show HG00558.hp2 HG02809.hp2 NA18975.hp1 NA19002.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0020 a0001c0001t0002g0045 a0002c0002t0001g0021 others(2): Show a0001c0001t0002g0020 a0001c0001t0002g0045 a0002c0002t0001g0021 a0002c0002t0001g0068 a0002c0002t0001g0091	5	35	0.1429	-585	c.128 others(17): Show c.128-9110_128-8526del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
MUC4_chr3_195741771_195816929	195777254	CCCATACC others(578): Show CCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTT CCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19043.hp2 HG01361.hp2 NA19043.hp2	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0002 a0015c0011t0002	a0015c0011t0002g0194 a0015c0011t0002g0195 a0015c0011t0002g0194 a0015c0011t0002g0195	2	208	0.0096	-585	c.129 others(20): Show c.12943+464_12943+1048del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
POLE_chr12_132618762_132692342	132688273	CGGGGCGC others(578): Show CGGGGCGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGG TGAAGACAGGGCCAGGGGAGCGGGTCCTCATGGAGCGTGTGGAGACAGGG CCAAGGGAGCGAGTCTGCGGGGCGCGGGTGAAGACAGCGCCAGGGGAGCG GGTCTTGGGGGCGCGGGTAAAGACAGGGCCAGGGGAGCGGGTCCTCATGG CGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAG ACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGGCGAGG GGAGCGGGTCTGCGGGGCACGGGTAAAGACAGGGCCAAGGGAGCGGGTCT GCGTGGTGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGG GTGAAGACAGGGCGAGGGGAGCGGGTCTTGGGGGCGCGGGTGAAGACAGG GCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCGAGGGGAGC GGGTCTTGGGGGCGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGG GCACGGGTGAAGACAGGGCGAGGGGAGCGGGTCTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA20905.hp2 HG02145.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0039 a0003c0003 a0001c0039 a0003c0003	a0001c0039t0010 a0003c0003t0001 a0001c0039t0010 a0003c0003t0001	a0001c0039t0010g0016 a0003c0003t0001g0044 a0001c0039t0010g0016 a0003c0003t0001g0044	2	290	0.0069	-585	c.-15 others(10): Show c.-1543_-959del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		932		chr12	TogoVar
PXMP2_chr12_132682587_132709985	132688273	CGGGGCGC others(578): Show CGGGGCGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGG TGAAGACAGGGCCAGGGGAGCGGGTCCTCATGGAGCGTGTGGAGACAGGG CCAAGGGAGCGAGTCTGCGGGGCGCGGGTGAAGACAGCGCCAGGGGAGCG GGTCTTGGGGGCGCGGGTAAAGACAGGGCCAGGGGAGCGGGTCCTCATGG CGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAG ACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGGCGAGG GGAGCGGGTCTGCGGGGCACGGGTAAAGACAGGGCCAAGGGAGCGGGTCT GCGTGGTGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGG GTGAAGACAGGGCGAGGGGAGCGGGTCTTGGGGGCGCGGGTGAAGACAGG GCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAGACAGGGCGAGGGGAGC GGGTCTTGGGGGCGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGG GCACGGGTGAAGACAGGGCGAGGGGAGCGGGTCTTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02145.hp1 NA20905.hp2 HG00323.hp1 HG02145.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0096	3	348	0.0086	-585	c.122 others(16): Show c.122+869_123-1018del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
SERPINF2_chr17_1737871_1760265	1740507	CGGACAGT others(578): Show CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0042 a0003c0003t0004g0042	1	329	0.0030	-585	c.-24 others(11): Show c.-2405_-1821del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2363		chr17	TogoVar
SLIT3_chr5_168656740_169306139	168746328	TGTGTGAG others(578): Show TGTGTGAGTGTGGTGGTGTGGGTGTGTGGTGGTGTGTGGTGTGTGAGTGT GGTGGTGTGGGTGTGTGGTGTCTGGTGGTGTGTAGTGTGTGAGTGTGGTG GTGTGTGGTGGTGTGGGTGTGGCAGTGTGTGGTGGTGTGCGGTGGTGTGG GTGTGGTGGTGTGTGGTGGTGTGTGGTGTGTGAGTGTGGTGGCGTGGGTG TGGCGGTGTGTGGTGGTGTGCGGTGGTGTGGGTGTGGTGGTGTGTGGTGG TGTGTGGTGTGTGAGTGTGGTGGTGTGGGTGTGGTGTGTAGTATGGTGGT GTGGTGGTGTGTAGTGGTGTGGGTGTGTGGTGTGTGAGTGTGGTGGTATG GTGGTGTGTGGTGGTGTGGGTGTGGTGGTGTGTGGTGTGGGTGTGGCGGT GTGTGGTGGTGTGCGGTGGTGTGGGTGTGGCGGTGTGTGGTGGTGTGTGG TGTGTGAGTGTGGTGGTGTGGGTGTGGCGGTGTGTGGTGTGTGAGTGTGG TGGTGTGGGTGTGGTGGTGTGTGGTGTGTGAGTGTGGTGGTGTGGGTGTG GCGGTGTGTGGTGGTGTGTGGTGTGTGAGTGTGGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0035 a0001c0010t0035	a0001c0010t0035g0103 a0001c0010t0035g0103	1	107	0.0093	-585	c.227 others(19): Show c.2270+1389_2270+1973del	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
TACC2_chr10_121984163_122259542	122200491	GCACCTCA others(578): Show GCACCTCACCTGCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTTACC TCACCTGCCCACAGTGGCTGCGTTCACATGGGGAGGACGGCCACCTCACC TGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCTGCCC ACAGTGGCCACATTTACAGTGAGAGGATGGCCACCTCACCTGCCCACAGT GGCCATGTTCACATGGGGAGGACGGCGACCTCACCTGCCCACAGTGGCCG TGTTCACATGGGGAGGACGGCCACCTCACCTGCCCACAGTGGCCATGTTC ACATGGGGAGGACGGCGACCTCACCTGCCCACAGTGGCCACATCTACACT GAGAGGATGGCGACCTCACCTGCCCACAGTGGCCACATCTACACTGAGAG GACGACCACCTCACCTGCGCACAGTGGCTGTGTTCACACGGGGAGGACAG CGACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACC TCACCCGCCCAGAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACC CGCCCACAGTGGCCACATCTACAGTGAGAGGACGGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02622.hp1 others(7): Show HG01109.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 NA19043.hp2	a0008 a0011 a0022 others(6): Show a0008 a0011 a0022 a0027 a0031 a0032 a0040 a0056 a0062	a0008c0009 a0011c0013 a0022c0015 others(6): Show a0008c0009 a0011c0013 a0022c0015 a0027c0038 a0031c0123 a0032c0070 a0040c0067 a0056c0091 a0062c0054	a0008c0009t0002 a0008c0009t0003 a0011c0013t0002 others(7): Show a0008c0009t0002 a0008c0009t0003 a0011c0013t0002 a0022c0015t0007 a0027c0038t0003 a0031c0123t0006 a0032c0070t0005 a0040c0067t0011 a0056c0091t0006 a0062c0054t0005	a0008c0009t0002g0160 a0008c0009t0003g0226 a0011c0013t0002g0169 others(7): Show a0008c0009t0002g0160 a0008c0009t0003g0226 a0011c0013t0002g0169 a0022c0015t0007g0009 a0027c0038t0003g0245 a0031c0123t0006g0293 a0032c0070t0005g0116 a0040c0067t0011g0075 a0056c0091t0006g0262 a0062c0054t0005g0167	10	295	0.0339	-585	c.597 others(19): Show c.5971+5338_5971+5922del	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131228194	CGAGTCTC others(578): Show CGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCC TCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGC ATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAG GTCTCTGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCACGAGT CTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAG ACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTC CTCAAGGTCTCTGGAGTCTCCACTCCAGAAAGGCATTTCCTCAAGGCCTC ACGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCC CTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGG CATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAA GGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAG TCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCCG	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	316	0.0032	-585	c.856 others(19): Show c.856+31480_856+32064del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131228311	GGAGTCTT others(578): Show GGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCTGGAGTCTCCCC TCCAGACAGGCATTTCCTCAAGGCCTCACGAGTCTCCCCTCCAGACAGGC ATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAG GCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCTGGAGT CTCCACTCCAGAAAGGCATTTCCTCAAGGCCTCACGAGTCTCCCCTCCAG ACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTC CTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTC CGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCC CTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGG CATTTCCTCAAGGTCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAA GGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCCGGAG TCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG06807.hp2 HG02451.hp1 HG02717.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0001 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0087 a0001c0001t0004g0092 a0001c0001t0022g0287 a0001c0001t0001g0087 a0001c0001t0004g0092 a0001c0001t0022g0287	3	322	0.0093	-585	c.856 others(19): Show c.856+31363_856+31947del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
DCC_chr18_52335197_53540899	53085989	CTCCTTCT others(577): Show CTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTT CTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCT TCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG00673.hp2 others(9): Show HG00597.hp1 HG00642.hp2 HG00673.hp2 HG01257.hp1 HG01433.hp2 HG02622.hp1 HG02717.hp2 HG03098.hp2 HG03831.hp1 NA18948.hp2 NA18971.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0001c0023 a0002c0001	a0001c0002t0003 a0001c0002t0008 a0001c0002t0014 others(5): Show a0001c0002t0003 a0001c0002t0008 a0001c0002t0014 a0001c0003t0004 a0001c0003t0020 a0001c0010t0003 a0001c0023t0001 a0002c0001t0007	a0001c0002t0003g0059 a0001c0002t0008g0039 a0001c0002t0014g0051 others(9): Show a0001c0002t0003g0059 a0001c0002t0008g0039 a0001c0002t0014g0051 a0001c0003t0004g0052 a0001c0003t0004g0057 a0001c0003t0004g0061 a0001c0003t0004g0077 a0001c0003t0004g0092 a0001c0003t0020g0102 a0001c0010t0003g0096 a0001c0023t0001g0106 a0002c0001t0007g0074	12	110	0.1091	-584	c.126 others(21): Show c.1261+19825_1261+20408del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
FUT8_chr14_65407730_65749121	65690943	CTCAAACT others(577): Show CTCAAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCACGCCCAGCCACATTTGACTTTTGTAT ATCAACCTTGTATCCTACAACCTTGATATAGTTACTTATTAGTTCCAGCA GGGGTTTTTTGCTGGTTTTTTTGGGGGGTGGAGGGGCAGGGGCAAGTTGC CAACTCTTGGGATTTCCTACATAAATGACCATGTCATCTGTGAACAAAGA TAGTTTTATGTCTTCCTTCCCAATCTGTATACCTTTTCTTTCTTTCTTTT GTCTTATTCCATTGACTTCTGCTACTGACTGATTCCTTTTATTTTTAGTG TTACGTAGGAATGGTGAGAGGGGCCATCCTTGTGTTGTTCCCAACTTAGG AAGAAGGTATCAAGTTTCTCACCATTATGCAGTTTGCTAGCTGTAGGCTG TTTGTAGATGTTCTTTCTTGCTGAGAGTTTTTAATCATGAATAGGTGTTG GATTTGGTGGACTACTTTTCTTGCATCTATTGATATTATTAAATTATTTA TCTCCTTTAGCCTGTTGATTTGATGGACTATCTTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02615.hp1 others(8): Show HG01891.hp2 HG02258.hp1 HG02615.hp1 HG02647.hp2 HG02896.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021	a0001c0001t0002g0161 a0001c0001t0006g0147 a0001c0001t0006g0148 others(8): Show a0001c0001t0002g0161 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0021g0163	11	372	0.0296	-584	c.835 others(19): Show c.835+21464_835+22047del	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10			chr14	TogoVar
LMF1_chr16_848634_975984	953401	CCACCCCA others(577): Show CCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCAC GTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCC CAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAG ACACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02040.hp2 HG02132.hp2 others(6): Show HG01192.hp1 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG03139.hp2 HG03516.hp2 HG04199.hp1 NA19012.hp2 NA19077.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0007 others(1): Show a0001c0001 a0001c0003 a0002c0007 a0011c0056	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0007t0001 a0011c0056t0009	a0001c0001t0001g0122 a0001c0001t0001g0194 a0001c0001t0001g0215 others(6): Show a0001c0001t0001g0122 a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0002g0136 a0001c0003t0001g0190 a0001c0003t0001g0237 a0002c0007t0001g0192 a0011c0056t0009g0137	9	259	0.0347	-584	c.503 others(15): Show c.503+372_503+955del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LPP_chr3_188149157_188895671	188784444	CCATCATA others(577): Show CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATTCCATCATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATATTCCATCATATATATATTCCATCATATATATATATTCCATCA TATATATATATTCCATCATATATATATATTTCCATCATATATATATTCCA TCATATATATATTCCATCATATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATTCCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0037 a0004c0010t0037	a0004c0010t0037g0044 a0004c0010t0037g0044	1	74	0.0135	-584	c.141 others(21): Show c.1410+24177_1410+24760del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED29_chr19_39386378_39405641	39396176	TGTGCCTG others(577): Show TGTGCCTGTAACTCCAGCATTTTGGGAGCCTGAGGCGGGCAGATCACAAG GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTAC TAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCACCTGAAATCCCAG CTACTTGGATGAGACAAGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGC AGTGAACCAAGATGGCGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGA CTGTCTCCAAAAAAAAAGGGGCCGGGCACAAGTGGCTCATGCCTGTAATC CCAACACTTTGGGATGCCAAGGCGGGTAGATCACGAGGTTAGGAGTTCGA GACCAGCCTGGCCAATATGGTGAAATCCCGTCTCTACTAAAAATACAAAA ATTAGCCAGGCTTGGTGGCATGCACCTGAAGTGCCAGCTCCTCTGGAGGC TGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCA AGATCGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGATTCCACCTC AAAAGAAAAAAAAAAAAGCCTGGGCGCGGTGGCTC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	386	0.0026	-584	c.361 others(16): Show c.361-1280_361-697del	MED29	ENSG00000063322.15	transcript	ENST00000315588.11	protein_coding	3/3			chr19	TogoVar
P2RX5_chr17_3668227_3701155	3687006	GCACAGCT others(577): Show GCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02523.hp2 HG00558.hp1 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0121 a0002c0002t0002g0097 a0002c0002t0002g0121	2	348	0.0057	-584	c.981 others(16): Show c.981+422_981+1005del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
TTLL7_chr1_83860024_84004132	83922658	ATGCAAGA others(577): Show ATGCAAGAAACTCAGCTTCTCACATGGACTTGAATACTAGGTTATTGAGC CTCAAATTTAACTTTACACAATGAAGGAGAACATAAATTTTTAAAAGAGG GCATAATTATATTTGTATATGTTAAAGATTATGCTCTTGGCAGTATATAC AGTGGCTTAGAAGTAGATGAGAAAAGAAGCAGAAAGTTAAGATGAGATGC TATTTCATTAACAAATATAAAGTATGAGGGCTTGGAACAGGGGAGCAACA AAGGGATTAGAGAAAAAAGGTAAGTTTAGAGTAATATTTTGGAGGAAGAA TGGATATGCTCTGGTGACTAATTCAATATGAAGAATAAGAAAGAGAGATG AACTTGTGATGACACCAAGAGTTCTGATTTTAGTGAGTCCACTGGCATTT TCAATGATGAATACAAATTTGGCTCTGAGTTTCCCCTAATTAAGGGTAAA GGAAATGCCATGGTTTAGGTAACTCTTTAACTTTTGAATTTTTTCATTTT ATTATATCTAGAGCAATCATTTTATCATTCTATCATATACCAATGAATAT ATTATCATACATCCATTTAAAATGGATAAAATTTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01257.hp1 others(6): Show HG00280.hp1 HG00639.hp1 HG01257.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 others(6): Show a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131	9	300	0.0300	-584	c.114 others(19): Show c.1143-1848_1143-1265del	TTLL7	ENSG00000137941.17	transcript	ENST00000260505.13	protein_coding	10/20			chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291330	CACCGTCC others(577): Show CACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTC CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT CCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGT CCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCA TGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCC TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTG TCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA20752.hp2 HG03942.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0170 a0001c0001t0001g0132 a0001c0001t0001g0170	2	282	0.0071	-584	c.121 others(18): Show c.1214+585_1214+1168del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF99_chr19_22747183_22789151	22756178	GAAAGCTT others(577): Show GAAAGCTTTGACACATTCTTCACATTTTTAGGGCTTCTCCCCAGTATGAA TTATCTTATGTTTAGTAAGGGCTGAAAGATGGTTAAAAGCTTTGCCACAT TCTTCACATTTGTAGGTTTTCCCTCCAGTATGAATTGTTTTATGTTGAGT AAGGTGTGAGGACTGGTTAAAGGCTTTGCCACATTCTTCACATTTGTAGG GTTTCTCTCCAGAATGAATTATCTTATGTTTAGTAAGGTTTGAGGACTAA ATGCTTTACCACACTCTTCACATTTGTAGGGTTTCTTTCCAGTATGAATT ATCCTATGTTTAGTAAGGCGTGAGAAATGGCTAAAAGCTTTGCCACGTTC TTCACATTTGTAGGGTTTCTCTCCAGTATGAATTGATTTATGTTTAGTAA GGTGTGAGGATTGCTTAAAAGCTTTGCCACATTCTTCACATTTGTACGGT TTCTCCCCAGTATGAATTATCTTATGTTTCATAAGGGTCGAGAAATTGTT AAAACCTTTGCCACATTCTTCACATTTGTACGGTTTCTCCCCAGTATGAA TTATCTTATGTTTCATAAGGGTTGAGGAATTGTTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01074.hp1 others(57): Show HG00597.hp1 HG00609.hp2 HG01074.hp1 HG01081.hp2 HG01884.hp2 HG01891.hp2 HG02080.hp1 HG02109.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18973.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19003.hp2 NA19006.hp1 NA19012.hp1 NA19043.hp1 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19090.hp2 NA20300.hp2	a0003 a0005 a0014 others(2): Show a0003 a0005 a0014 a0017 a0018	a0003c0003 a0005c0005 a0014c0013 others(2): Show a0003c0003 a0005c0005 a0014c0013 a0017c0012 a0018c0011	a0003c0003t0004 a0003c0003t0006 a0003c0003t0008 others(11): Show a0003c0003t0004 a0003c0003t0006 a0003c0003t0008 a0003c0003t0009 a0003c0003t0010 a0003c0003t0011 a0003c0003t0013 a0003c0003t0021 a0003c0003t0022 a0003c0003t0023 a0005c0005t0007 a0014c0013t0006 a0017c0012t0004 a0018c0011t0004	a0003c0003t0004g0003 a0003c0003t0004g0010 a0003c0003t0004g0028 others(53): Show a0003c0003t0004g0003 a0003c0003t0004g0010 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0031 a0003c0003t0004g0032 a0003c0003t0004g0033 a0003c0003t0004g0034 a0003c0003t0004g0035 a0003c0003t0004g0036 a0003c0003t0004g0037 a0003c0003t0004g0041 a0003c0003t0004g0042 a0003c0003t0004g0043 a0003c0003t0004g0047 a0003c0003t0004g0049 a0003c0003t0004g0051 a0003c0003t0004g0053 a0003c0003t0004g0054 a0003c0003t0004g0068 a0003c0003t0004g0070 a0003c0003t0006g0030 a0003c0003t0006g0059 a0003c0003t0006g0060 a0003c0003t0006g0061 a0003c0003t0006g0062 a0003c0003t0006g0063 a0003c0003t0006g0064 a0003c0003t0006g0065 a0003c0003t0006g0067 a0003c0003t0008g0026 a0003c0003t0008g0038 a0003c0003t0008g0044 a0003c0003t0008g0048 a0003c0003t0009g0009 a0003c0003t0009g0021 a0003c0003t0010g0019 a0003c0003t0010g0022 a0003c0003t0010g0023 a0003c0003t0011g0027 a0003c0003t0011g0039 a0003c0003t0011g0040 a0003c0003t0013g0024 a0003c0003t0013g0025 a0003c0003t0021g0020 a0003c0003t0022g0052 a0003c0003t0023g0045 a0005c0005t0007g0055 a0005c0005t0007g0056 a0005c0005t0007g0057 a0005c0005t0007g0058 a0005c0005t0007g0069 a0005c0005t0007g0071 a0014c0013t0006g0066 a0017c0012t0004g0050 a0018c0011t0004g0046	60	342	0.1754	-584	c.55 others(10): Show c.552_*1135del	ZNF99	ENSG00000213973.10	transcript	ENST00000596209.4	protein_coding	4/4	552		chr19	TogoVar
BRF1_chr14_105204286_105306001	105276925	CGAGAGGG others(576): Show CGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAG GCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAG GAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGG GAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCT GGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGA GCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCACTAG AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp2 HG02280.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0056 a0001c0001t0011g0025 a0001c0001t0001g0056 a0001c0001t0011g0025	2	67	0.0299	-583	c.266 others(17): Show c.266-4614_266-4032del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
CUX2_chr12_111029165_111355554	111325795	GGTGGGGG others(576): Show GGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGT GTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGG GTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTG TTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGG GGTGGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTA TAGTGTTGGGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGATGGGG AGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTT TATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTG GGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTTGGTT TTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTG TGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	97	0.0103	-583	c.292 others(19): Show c.2926+3280_2926+3862del	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1016191	CGGCGCCT others(576): Show CGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGA CGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGAT GCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACC AGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTC CACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGAGACCAGG ACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACA GACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGT GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	40	0.0250	-583	c.73+ others(19): Show c.73+108227_73+108809del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTMR1_chrX_150688396_150770108	150759423	GAACATTA others(576): Show GAACATTAGCAGAAAATCCAACAGAACCATGCCTGATCTGGAGTGCCTTT GGCTAAACAGAGCCTCTCGATTACTGCAGGAGACCCCCGTACCCCTGCCA CGCTCCCCCTTGTGCAGCAGGTTGCAGAGGTGAAGAAATGCTGAACCAGC AGAGAGGGTTAGAGTGGTGTCCCACAGGGGTGCACCCAGGCTCAGATTCT TGCCCGCCGCGTGAGGCAGGTAACAGACCTTTCCTAAAACCTACAAACTG CGCGACAGATCTGTTCCCAGATGTGGTCAGGTTCTCACTCATGTAGGCGA AGCCACCTGCAACATCATGATGATGATGGAAACCACAGCGACAGCGCCTA TAACCTGCAGTCCTCTTGTGTGCCAGTGGGTTCTGTACACACATGATCCC AGTTAACGCTCCCAGCAATTCCACGACGTAGAGAATGAGGGAAGGGTCAG AGAAGCAGTGACTTGGTTGAAATCTTGCTGCCCAGTGCGTGTAGTTGTGG AAGGATGCCCCCGACAGGGCCAGATCCCGTCTCTGGCAGTGACTCACCGC CTGATCTGCAGCAGGGTCCTGAGCCTCACGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	268	0.0037	-583	c.185 others(19): Show c.1858-3141_1858-2559del	MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding	15/15			chrX	TogoVar
PCGF3_chr4_700832_775089	758814	CTCCGGAC others(576): Show CTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTG TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG CTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCT CCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGC CCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGC GGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCG CGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCC CCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTC TCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02280.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0118 a0001c0001t0026g0119 a0001c0001t0026g0118 a0001c0001t0026g0119	2	229	0.0087	-583	c.463 others(17): Show c.463-2366_463-1784del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SERPINF2_chr17_1737871_1760265	1739447	AGTGGCCT others(576): Show AGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0107 a0003c0003t0002g0107	1	412	0.0024	-583	c.-34 others(11): Show c.-3465_-2883del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3423		chr17	TogoVar
VAV2_chr9_133756894_133997324	133827629	CTGAGTGG others(576): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCAC CTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCT ACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0147 a0002c0001t0001g0147	1	184	0.0054	-583	c.449 others(17): Show c.449+6060_449+6642del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
WDR81_chr17_1719704_1743585	1739447	AGTGGCCT others(576): Show AGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19084.hp2 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	2	396	0.0051	-583	c.17 others(11): Show c.1763_*2345del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		863		chr17	TogoVar

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