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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DHRS12_chr13_51762993_51809163	51775987	CCTACATG others(104): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATT CTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCT CCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp1 HG01943.hp1 others(6): Show HG01109.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02004.hp1 HG02273.hp2 HG02698.hp1 HG02738.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0002t0003 a0002c0010t0003 a0002c0002t0001 a0002c0002t0003 a0002c0010t0003	a0002c0002t0001g0182 a0002c0002t0003g0051 a0002c0002t0003g0209 others(5): Show a0002c0002t0001g0182 a0002c0002t0003g0051 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0235 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0010t0003g0244	9	417	0.0216	-111	c.363 others(16): Show c.363+962_363+1072del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776030	ATGTATTC others(104): Show ATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGT ATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0197 a0002c0002t0003g0197	1	414	0.0024	-111	c.363 others(16): Show c.363+919_363+1029del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DIP2C_chr10_269201_694668	425475	GTGAAATG others(104): Show GTGAAATGGATACAGCATGACCAGCGGTGACTAATATGACACAGATGATA CAGCATGACCAGTGGTGACTAATATGACACGGATGATACAGCATGACCAG CAGTGACTAATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01258.hp1 HG01515.hp1 others(10): Show HG00597.hp2 HG01258.hp1 HG01515.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG03453.hp1 HG03942.hp2 NA18962.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0005t0002 a0001c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(10): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0008 a0001c0001t0003g0075 a0001c0001t0004g0019 a0001c0001t0005g0023 a0001c0001t0010g0020 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0087 a0001c0008t0001g0017 a0001c0008t0001g0018	13	87	0.1494	-111	c.395 others(17): Show c.395-2553_395-2443del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36						chr10	TogoVar
DIP2C_chr10_269201_694668	444274	CGTTCATT others(104): Show CGTTCATTCATGAGGAGTGTTCCTTGGCACTGTTCCGTCACCCGAGACTC GTGTAGATTCTCCACCGTCACATGGAGCCCACGGCATAGTGTTCACTCAA GAGACAGCCACT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0018t0003 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 others(17): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 a0001c0002t0001g0080 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0084 a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0005 a0001c0005t0002g0006 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0018t0003g0007 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	20	88	0.2273	-111	c.269 others(17): Show c.269-3389_269-3279del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36						chr10	TogoVar
DIS3L2_chr2_231956713_232342192	232333152	TCCTCCTT others(104): Show TCCTCCTTCTCCTCCTCCGCTGTCGCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCGCTGTCGCCTCCTCCTCCTCCTCCTCCTCCT CCTCCGCTGTCG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01109.hp2 others(13): Show HG00323.hp2 HG00558.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02071.hp1 HG02080.hp2 HG02293.hp1 HG02735.hp1 NA18522.hp1 NA19043.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0017 a0001c0003t0001g0055 a0001c0003t0001g0150 others(13): Show a0001c0001t0001g0017 a0001c0003t0001g0055 a0001c0003t0001g0150 a0001c0003t0001g0160 a0001c0003t0001g0163 a0001c0003t0001g0167 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0178 a0001c0010t0001g0168 a0001c0010t0001g0176 a0002c0004t0001g0212	16	302	0.0530	-111	c.201 others(17): Show c.2011-681_2011-571del		DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
DMD_chrX_31114222_33216549	32452292	GGAAAAGG others(104): Show GGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0014 a0014	a0014c0050 a0014c0050	a0014c0050t0009 a0014c0050t0009	a0014c0050t0009g0123 a0014c0050t0009g0123	1	88	0.0114	-111	c.360 others(19): Show c.3603+2259_3603+2369del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33190883	TATAATAT others(104): Show TATAATATTATATATTATATAATATATAATATTATATATATAATATTATA TATATATATAATATATAATATTATATATATATATAATATATAATATTATA TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0112 a0002c0009t0002g0112	1	126	0.0079	-111	c.31+ others(17): Show c.31+20288_31+20398del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78						chrX	TogoVar
DNAH11_chr7_21538039_21906839	21803640	ATCATCAT others(104): Show ATCATCATTGAAGTCTGGAAAAGTGGGGAATGGGGCTATCATCATTGAAG TCTGGAAAAGTGGGGAATGGGGCTGTCATCATTGAAGTCTGGAAAAGTGG ACAATGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0102 a0102	a0102c0162 a0102c0162	a0102c0162t0009 a0102c0162t0009	a0102c0162t0009g0054 a0102c0162t0009g0054	1	296	0.0034	-111	c.101 others(21): Show c.10165+2402_10165+2512del		DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	62/81					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154656867	TGATGGGT others(104): Show TGATGGGTGGAGAAGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGA GGATGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGTGTGGGAG GAGGTGCCCAGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp1 others(19): Show HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02965.hp2 NA18747.hp1 NA18747.hp2 NA19043.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(15): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0016 a0001c0017 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0027 a0002c0002 a0002c0004 a0002c0005 a0002c0012 a0002c0013 a0002c0023	a0001c0001t0001 a0001c0003t0007 a0001c0006t0002 others(19): Show a0001c0001t0001 a0001c0003t0007 a0001c0006t0002 a0001c0006t0003 a0001c0007t0019 a0001c0011t0003 a0001c0016t0013 a0001c0017t0020 a0001c0020t0001 a0001c0021t0011 a0001c0024t0028 a0001c0025t0001 a0001c0027t0027 a0002c0002t0002 a0002c0002t0022 a0002c0002t0029 a0002c0004t0006 a0002c0005t0015 a0002c0005t0024 a0002c0012t0021 a0002c0013t0018 a0002c0023t0014	a0001c0001t0001g0019 a0001c0003t0007g0024 a0001c0006t0002g0015 others(19): Show a0001c0001t0001g0019 a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0006t0003g0014 a0001c0007t0019g0037 a0001c0011t0003g0013 a0001c0016t0013g0012 a0001c0017t0020g0033 a0001c0020t0001g0010 a0001c0021t0011g0022 a0001c0024t0028g0002 a0001c0025t0001g0018 a0001c0027t0027g0007 a0002c0002t0002g0021 a0002c0002t0022g0030 a0002c0002t0029g0003 a0002c0004t0006g0028 a0002c0005t0015g0011 a0002c0005t0024g0031 a0002c0012t0021g0035 a0002c0013t0018g0026 a0002c0023t0014g0017	22	37	0.5946	-111	c.681 others(19): Show c.681-12480_681-12370del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154657616	GCGTGGGA others(104): Show GCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGG TGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATAGGTGG GTGGAGAGGCTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	-111	c.681 others(19): Show c.681-11728_681-11618del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DSPP_chr4_87603529_87621873	87615923	CAGTGACA others(104): Show CAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCG ACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGC AGCAATAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 NA19043.hp2 HG02145.hp1 NA19043.hp2	a0020 a0020	a0020c0029 a0020c0029	a0020c0029t0001 a0020c0029t0001	a0020c0029t0001g0017 a0020c0029t0001g0017	2	447	0.0045	-111	c.326 others(9): Show c.3262_3372del	p.Ser others(15): Show p.Ser1088_Ser1124del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3382/4331	3262/3906	1088/1301			chr4	TogoVar
DTWD2_chr5_118831074_118993547	118918555	TCCCAGAA others(104): Show TCCCAGAAGCAATATCTGAAGCTACCACAGAAGGCCTGATGAAGATGATG CTTTCTTACTTTTACCATCATCCAATGCCAAGAGCCCAACTTTATTGCAA CTGCTACTGCCA	T T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	240	0.0042	-111	c.597 others(17): Show c.597+9871_597+9981del		DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	4/5						chr5	TogoVar
DYM_chr18_49031387_49465645	49354911	CATCTACT others(104): Show CATCTACTCTGTATGATATGACAATGATAGATACATTTCATCATGCATTT GTCTAATCCCATAGAATATAAATTTCTTACAAAATTAAACATATTTTAAC CATCATCCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00621.hp1 others(57): Show HG00323.hp1 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0004 a0004c0010 others(1): Show a0001c0001 a0001c0004 a0004c0010 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0034 a0001c0004t0001 a0004c0010t0023 a0006c0009t0002	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(57): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0040 a0001c0001t0002g0062 a0001c0001t0003g0031 a0001c0001t0003g0059 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0025 a0001c0001t0008g0039 a0001c0001t0014g0042 a0001c0001t0014g0069 a0001c0001t0015g0020 a0001c0001t0015g0024 a0001c0001t0032g0017 a0001c0001t0034g0061 a0001c0004t0001g0041 a0004c0010t0023g0009 a0006c0009t0002g0060	60	288	0.2083	-111	c.494 others(17): Show c.494+8139_494+8249del		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	6/17						chr18	TogoVar
EHMT1_chr9_137614005_137841127	137722870	GGGCCTGA others(104): Show GGGCCTGAGCCCGGGGTGTGTCTGTGTCTGTGGTTCTGGGCCTGAGCCCG GGGTGTGTCTGTGTCTGTGGTTCTGGGCCTGAGCCGGGGGTGTGTCTGTG TCTGTGGTTCTA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 NA19240.hp1 HG02970.hp2 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0008 a0001c0004 a0001c0006 a0001c0008	a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001	a0001c0004t0001g0157 a0001c0006t0001g0152 a0001c0008t0001g0156 a0001c0004t0001g0157 a0001c0006t0001g0152 a0001c0008t0001g0156	3	168	0.0179	-111	c.643 others(17): Show c.643-5368_643-5258del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818937	GGCGCCGT others(104): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	166	0.0060	-111	c.354 others(17): Show c.3540+801_3540+911del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819317	GGCGCCGT others(104): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0127 a0002c0010t0001g0127	1	168	0.0060	-111	c.354 others(19): Show c.3540+1181_3540+1291del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928047	GTGATGGT others(104): Show GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0019 a0001c0003t0004g0019	1	285	0.0035	-111	c.190 others(19): Show c.1909+7173_1909+7283del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML5_chr14_88607431_88797953	88789447	CACTGAGA others(104): Show CACTGAGAAAATGATGAAATGTCATGTGGCACCACCACTGGCAATCCCAG GTGATAATAAAATGGTCAAAGAACCAGTAAGCAAATGATAGACTAGTCAT GATTCAGCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(101): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19006.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0004c0007 a0008c0011 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0003t0004 a0001c0006t0003 a0002c0002t0001 a0002c0002t0003 a0004c0007t0016 a0008c0011t0008 a0009c0008t0025	a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0002g0001 others(98): Show a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0005g0192 a0001c0001t0006g0003 a0001c0001t0006g0202 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0007g0134 a0001c0001t0008g0099 a0001c0001t0008g0100 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0008g0131 a0001c0001t0025g0191 a0001c0001t0029g0157 a0001c0001t0030g0135 a0001c0003t0004g0328 a0001c0006t0003g0161 a0001c0006t0003g0162 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0004c0007t0016g0007 a0004c0007t0016g0008 a0008c0011t0008g0101 a0009c0008t0025g0190	104	315	0.3302	-111	c.197 others(17): Show c.197+2749_197+2859del		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/43						chr14	TogoVar
EPS8L1_chr19_55070869_55092923	55078223	TCTGGACT others(104): Show TCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGTCTGGACTCCTGG GTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGA GGGGCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02922.hp1 others(3): Show HG01109.hp2 HG02559.hp2 HG02922.hp1 HG03209.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0112 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0112 a0001c0001t0001g0140 a0001c0001t0001g0142	6	296	0.0203	-111	c.58+ others(13): Show c.58+132_58+242del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078260	TCTGGACT others(104): Show TCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAG GTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGA GGTGCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG02451.hp2 others(3): Show HG00735.hp2 HG01109.hp1 HG02451.hp2 HG02622.hp1 HG02818.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0123 a0001c0001t0001g0015 a0001c0001t0001g0123	6	269	0.0223	-111	c.58+ others(13): Show c.58+180_58+290del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078371	CCTGGACT others(104): Show CCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGG GTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGA GGGGCTGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	311	0.0032	-111	c.58+ others(13): Show c.58+354_59-407del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078741	TCTGGACT others(104): Show TCTGGACTCCTGGGTCAGAGGGAGGAGGGGCTGGGGGGCTGGACTCCTGG GTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGA GGGGCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01346.hp1 others(5): Show HG00733.hp2 HG01168.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG02698.hp2 HG03831.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0118 a0001c0001t0001g0119	8	272	0.0294	-111	c.59- others(13): Show c.59-235_59-125del		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
ERICH1_chr8_659200_736224	675322	TGAGGACA others(104): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	291	0.0034	-111	c.305 others(17): Show c.305-1386_305-1276del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676335	CGGCGAGG others(104): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18964.hp1 HG02683.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0290 a0001c0001t0002g0274 a0001c0001t0002g0290	2	260	0.0077	-111	c.305 others(17): Show c.305-2399_305-2289del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676365	TGAGGACA others(104): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0236 a0002c0005t0001g0236	1	254	0.0039	-111	c.305 others(17): Show c.305-2429_305-2319del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	696595	CCACTCCT others(104): Show CCACTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTCCACTC CTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCACCCTCCACTCTTC TCCTTCTCCACT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	376	0.0027	-111	c.170 others(17): Show c.170-4094_170-3984del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERVK3-1_chr19_58300377_58321812	58320354	AGAAAACC others(104): Show AGAAAACCTTCCAGGAGGCCACAACTCTTGTACTACATGAGAGGATTCCC TGGAGAGAAGCCCTTTTGAGTGTTGTGAGTGTGGCAAAGCCTTCCGCCAA AGCAGATTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-111	c.55 others(11): Show c.5572_*5682del		ERVK3-1	ENSG00000142396.11	transcript	ENST00000413518.6	protein_coding					3543		chr19	TogoVar
ESYT2_chr7_158725997_158834509	158729481	TGCTGGGG others(104): Show TGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGG AGGCGGGAGGGTTGGAGCAGGTGTGGAGGTGCTGTGGAAGAGGGGCAAGT GAGGATGTGCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	367	0.0027	-111	c.46 others(11): Show c.4615_*4725del		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding					1515		chr7	TogoVar
ETFB_chr19_51340169_51371388	51353421	AGGCCCCC others(104): Show AGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCC CTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGA CCCAGGAGTCCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02698.hp1 HG02602.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0117 a0002c0002t0001g0102 a0002c0002t0001g0117	2	359	0.0056	-111	c.217 others(15): Show c.217-242_217-132del		ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5						chr19	TogoVar
ETFB_chr19_51340169_51371388	51353689	TCCCCTCC others(104): Show TCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCT CAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAG TCCAGGTCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00733.hp2 others(61): Show HG00408.hp1 HG00423.hp2 HG00733.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02258.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 NA18522.hp2 NA18967.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18988.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0032 others(45): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0297 a0001c0001t0001g0308 a0002c0002t0001g0043 a0002c0002t0001g0314	64	280	0.2286	-111	c.216 others(15): Show c.216+350_217-400del		ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5						chr19	TogoVar
ETFB_chr19_51340169_51371388	51353735	CCCTCAGA others(104): Show CCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCA GGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCC CATCCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00609.hp2 others(58): Show HG00099.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG01123.hp1 HG01175.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp2 HG02040.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA19001.hp1 NA19056.hp1 NA19060.hp2 NA19078.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0020 others(43): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0272 a0001c0001t0001g0309 a0002c0002t0001g0044 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0105 a0002c0002t0001g0237 a0002c0002t0001g0273 a0003c0004t0001g0097 a0003c0004t0001g0106	61	421	0.1449	-111	c.216 others(15): Show c.216+304_216+414del		ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	2/5						chr19	TogoVar
EXOC2_chr6_480154_698139	639265	TCTCCTGC others(104): Show TCTCCTGCCCTTGCCACTGTGAGCAGGTGTGCAAGCCCCTCCTGCCCTTG CCACTGTGAGCAGGTGTGCAAGCCCCTCCTGCCCTTGCCACTGTGAGCAG GTGTGCAAGCCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG02486.hp2 others(8): Show HG01081.hp1 HG01109.hp2 HG02486.hp2 HG02559.hp1 HG02723.hp2 HG02818.hp2 HG03139.hp1 HG03453.hp1 HG03516.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0011	a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 others(4): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0004t0002 a0001c0008t0013 a0001c0011t0008	a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 others(8): Show a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0003t0002g0155 a0001c0003t0003g0161 a0001c0003t0003g0169 a0001c0003t0007g0157 a0001c0004t0002g0156 a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0011t0008g0154	11	208	0.0529	-111	c.-43 others(17): Show c.-43-1515_-43-1405del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
FAM174B_chr15_92612448_92660775	92631223	ATATATAA others(104): Show ATATATAATATATTATATATTATATTATATATAATATATTATATATTATA TTATATATAATATATTATATATTATATATAATATATTATATATAATATTA TATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(67): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03688.hp1 HG03831.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18971.hp1 NA18977.hp1 NA18984.hp1 NA18990.hp2 NA19003.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0009 others(2): Show a0001c0001 a0001c0006 a0001c0009 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0050 a0001c0001t0053 a0001c0001t0058 a0001c0006t0024 a0001c0009t0005 a0002c0002t0010 a0003c0004t0016 a0003c0004t0038	a0001c0001t0001g0119 a0001c0001t0001g0157 a0001c0001t0001g0158 others(66): Show a0001c0001t0001g0119 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0002g0195 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0003g0185 a0001c0001t0003g0278 a0001c0001t0003g0327 a0001c0001t0004g0048 a0001c0001t0004g0239 a0001c0001t0004g0300 a0001c0001t0005g0174 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0187 a0001c0001t0005g0218 a0001c0001t0005g0221 a0001c0001t0005g0232 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0360 a0001c0001t0006g0004 a0001c0001t0006g0190 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0249 a0001c0001t0006g0277 a0001c0001t0007g0023 a0001c0001t0007g0025 a0001c0001t0008g0198 a0001c0001t0008g0235 a0001c0001t0009g0193 a0001c0001t0010g0196 a0001c0001t0011g0024 a0001c0001t0012g0168 a0001c0001t0013g0220 a0001c0001t0013g0264 a0001c0001t0013g0266 a0001c0001t0013g0297 a0001c0001t0014g0240 a0001c0001t0014g0241 a0001c0001t0014g0243 a0001c0001t0016g0101 a0001c0001t0023g0244 a0001c0001t0025g0234 a0001c0001t0027g0335 a0001c0001t0028g0359 a0001c0001t0029g0222 a0001c0001t0050g0026 a0001c0001t0053g0138 a0001c0001t0058g0329 a0001c0006t0024g0102 a0001c0009t0005g0358 a0002c0002t0010g0378 a0003c0004t0016g0366 a0003c0004t0038g0367	70	388	0.1804	-111	c.345 others(15): Show c.345-989_345-879del		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(104): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG02109.hp2 others(7): Show HG00642.hp2 HG01496.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02965.hp2 HG03098.hp1 NA18906.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0002c0001t0001	a0001c0002t0001g0192 a0001c0002t0001g0209 a0001c0003t0001g0178 others(7): Show a0001c0002t0001g0192 a0001c0002t0001g0209 a0001c0003t0001g0178 a0001c0003t0001g0181 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0210 a0001c0004t0001g0180 a0002c0001t0001g0193	10	160	0.0625	-111	c.748 others(16): Show c.748-1048_748-938del		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52					INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXN3_chr14_89151177_89422233	89360987	TCCAGCAC others(104): Show TCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCA CCTCCAGCACCA	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	202	0.0050	-111	c.544 others(19): Show c.544-10290_544-10180del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361159	GCACTACC others(104): Show GCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTC CACCACCACCAC	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	144	0.0069	-111	c.544 others(19): Show c.544-10462_544-10352del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361836	CACTACCA others(104): Show CACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCACC ACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	217	0.0046	-111	c.544 others(19): Show c.544-11139_544-11029del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361983	CACTACCA others(104): Show CACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCT CCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACC ACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG04184.hp2 NA19065.hp1 others(1): Show HG02273.hp1 HG04184.hp2 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0073 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0073 a0001c0003t0001	a0001c0001t0001g0146 a0001c0001t0002g0093 a0001c0001t0073g0115 others(1): Show a0001c0001t0001g0146 a0001c0001t0002g0093 a0001c0001t0073g0115 a0001c0003t0001g0137	4	222	0.0180	-111	c.544 others(19): Show c.544-11286_544-11176del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GALNS_chr16_88808734_88861947	88825217	CGCCTGGG others(104): Show CGCCTGGGTGTCTGGGGCTGGGGTGTCTGGGTGGCCAGGGCTGGGGTGCC TGGGTGTTTGGGCAGCCGGGGCTGGGGTGCCTGGGTGGCCGGGGCGACTG GGTATCTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02055.hp2 others(18): Show HG00639.hp2 HG01884.hp1 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0006 a0003c0007 others(3): Show a0001c0002 a0003c0006 a0003c0007 a0003c0016 a0005c0013 a0005c0017	a0001c0002t0004 a0003c0006t0001 a0003c0006t0006 others(6): Show a0001c0002t0004 a0003c0006t0001 a0003c0006t0006 a0003c0007t0004 a0003c0016t0004 a0005c0013t0007 a0005c0013t0012 a0005c0017t0015 a0005c0017t0016	a0001c0002t0004g0012 a0001c0002t0004g0013 a0003c0006t0001g0025 others(18): Show a0001c0002t0004g0012 a0001c0002t0004g0013 a0003c0006t0001g0025 a0003c0006t0006g0389 a0003c0006t0006g0392 a0003c0006t0006g0393 a0003c0007t0004g0029 a0003c0007t0004g0069 a0003c0007t0004g0107 a0003c0007t0004g0108 a0003c0007t0004g0109 a0003c0007t0004g0110 a0003c0007t0004g0118 a0003c0016t0004g0027 a0003c0016t0004g0028 a0005c0013t0007g0383 a0005c0013t0007g0384 a0005c0013t0012g0394 a0005c0013t0012g0395 a0005c0017t0015g0134 a0005c0017t0016g0387	21	402	0.0522	-111	c.114 others(17): Show c.1140-459_1140-349del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	10/13						chr16	TogoVar
GALNT9_chr12_132191372_132334589	132281888	ACAGCAAG others(104): Show ACAGCAAGGCCAGGCCTGGGGGTCCCCGATCCCACAGAGGAGGAATCAGC TCCACTACAGCAAGCCCAGGCCTGGGGTCCCACATCCCACAGAGGAGGAA TCAGCTCCACTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	182	0.0055	-111	c.419 others(17): Show c.419+4251_419+4361del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10						chr12	TogoVar
GAS6_chr13_113815549_113869076	113826468	CGCAGGCA others(104): Show CGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCT TCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGG CCTCCCGGCGCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	126	0.0079	-111	c.147 others(17): Show c.1477+417_1477+527del		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14						chr13	TogoVar
GASK1B_chr4_158119474_158178025	158141912	TGTGGTTT others(104): Show TGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01261.hp2 others(3): Show HG00735.hp1 HG00741.hp2 HG01261.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0126	6	290	0.0207	-111	c.112 others(21): Show c.1126-11011_1126-10901del		GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4						chr4	TogoVar
GFRA1_chr10_116051925_116278206	116196560	CTATATAT others(104): Show CTATATATAATATATATAATATATAGTACTATATATAATATATATATAGT ACTATATATAATATATATAATATATAGTACTATATATAATATATATATAG TACTATATATAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00673.hp2 others(45): Show HG00408.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01993.hp1 HG02040.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18941.hp2 NA18950.hp1 NA18957.hp2 NA18959.hp1 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18984.hp1 NA18993.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19083.hp2 NA19087.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0041 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0060 a0001c0001t0066 a0001c0001t0071 a0001c0001t0087 a0001c0001t0093 a0001c0001t0098 a0001c0001t0099 a0001c0001t0102 a0001c0001t0105 a0001c0001t0120 a0001c0001t0131 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0014 a0001c0002t0026 a0001c0002t0030 a0001c0002t0067 a0001c0002t0117 a0001c0010t0107 a0001c0013t0005 a0002c0003t0005 a0002c0003t0034 a0002c0003t0076 a0002c0004t0050	a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0128 others(45): Show a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0003g0204 a0001c0001t0004g0067 a0001c0001t0004g0076 a0001c0001t0004g0123 a0001c0001t0006g0061 a0001c0001t0008g0020 a0001c0001t0008g0031 a0001c0001t0009g0028 a0001c0001t0015g0181 a0001c0001t0017g0211 a0001c0001t0020g0030 a0001c0001t0028g0065 a0001c0001t0041g0140 a0001c0001t0045g0148 a0001c0001t0047g0195 a0001c0001t0049g0203 a0001c0001t0060g0145 a0001c0001t0066g0192 a0001c0001t0071g0010 a0001c0001t0087g0017 a0001c0001t0093g0071 a0001c0001t0098g0059 a0001c0001t0099g0118 a0001c0001t0102g0104 a0001c0001t0105g0109 a0001c0001t0120g0096 a0001c0001t0131g0093 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0160 a0001c0002t0003g0212 a0001c0002t0011g0199 a0001c0002t0014g0196 a0001c0002t0026g0110 a0001c0002t0030g0081 a0001c0002t0067g0200 a0001c0002t0117g0078 a0001c0010t0107g0068 a0001c0013t0005g0062 a0002c0003t0005g0098 a0002c0003t0034g0001 a0002c0003t0034g0040 a0002c0003t0076g0018 a0002c0004t0050g0210	48	212	0.2264	-111	c.433 others(19): Show c.433+14960_433+15070del		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10						chr10	TogoVar
GLOD4_chr17_754330_787280	768338	AGAGAAAC others(104): Show AGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGAC GTAAGAGAGAGAAACAGCGCGCGCTCAGATTTTTAGAAGAAATCTGGAGA GGACATAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	418	0.0024	-111	c.831 others(17): Show c.831+1420_831+1530del		GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8						chr17	TogoVar
GNAL_chr18_11684264_11890685	11769052	ATAATATA others(104): Show ATAATATATATTATAATATAGATTATATAAATTATATGTAATATATATTA TAATATAGATTATATAAATTATATGTAATATATATTATAATATAGATTAT ATAAATTATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp2 HG02055.hp1 others(14): Show HG01891.hp2 HG01952.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0003 a0001c0001t0031 a0001c0001t0154 others(12): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0154 a0001c0001t0161 a0001c0001t0166 a0001c0001t0171 a0001c0001t0174 a0001c0001t0176 a0001c0001t0178 a0001c0001t0184 a0001c0001t0185 a0002c0002t0050 a0002c0003t0049 a0003c0004t0034 a0003c0004t0035	a0001c0001t0003g0008 a0001c0001t0003g0240 a0001c0001t0031g0013 others(14): Show a0001c0001t0003g0008 a0001c0001t0003g0240 a0001c0001t0031g0013 a0001c0001t0031g0036 a0001c0001t0154g0007 a0001c0001t0161g0021 a0001c0001t0166g0033 a0001c0001t0171g0017 a0001c0001t0174g0014 a0001c0001t0176g0042 a0001c0001t0178g0053 a0001c0001t0184g0018 a0001c0001t0185g0016 a0002c0002t0050g0228 a0002c0003t0049g0029 a0003c0004t0034g0002 a0003c0004t0035g0003	17	213	0.0798	-111	c.624 others(19): Show c.624+15144_624+15254del		GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11769052	ATAATATA others(104): Show ATAATATATATTATAATATAGATTATATAAATTATATGTAATATATATTA TAATATAGATTATATAAATTATATGTAATATATATTATAATATAGATTAT ATAAATTATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp1 HG02055.hp2 others(14): Show HG01891.hp1 HG01952.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0035 a0001c0001t0041 others(12): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0041 a0001c0001t0048 a0001c0001t0110 a0001c0001t0113 a0001c0001t0116 a0001c0001t0147 a0001c0001t0150 a0001c0001t0152 a0001c0001t0164 a0001c0001t0166 a0001c0003t0088 a0001c0003t0169 a0001c0003t0170	a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0035g0073 others(14): Show a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0035g0073 a0001c0001t0035g0075 a0001c0001t0041g0067 a0001c0001t0048g0223 a0001c0001t0110g0051 a0001c0001t0113g0276 a0001c0001t0116g0077 a0001c0001t0147g0074 a0001c0001t0150g0076 a0001c0001t0152g0258 a0001c0001t0164g0066 a0001c0001t0166g0071 a0001c0003t0088g0065 a0001c0003t0169g0063 a0001c0003t0170g0064	17	242	0.0702	-111	c.393 others(19): Show c.393+15144_393+15254del		GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GRIN1_chr9_137134154_137173756	137145137	TGGGGACC others(104): Show TGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCC AGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAG TGTCCCCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp2 NA20129.hp2 HG02965.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0016 a0001c0001t0001g0129	3	296	0.0101	-111	c.394 others(15): Show c.394-586_394-476del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
HBM_chr16_160978_171764	163319	CAGTGAGT others(104): Show CAGTGAGTAGGAGACAGTGGGGAGAGGACAGTGGAGAGGGGACAGTGAGG AGGGGACCATGGGAAGGGGACCGTGGAGTGGGGACAGTGAGGAGGGGACC ATAGGGAGGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(101): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18948.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19063.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19088.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0011 a0001c0001 a0001c0002 a0003c0011	a0001c0001t0001 a0001c0002t0001 a0003c0011t0001 a0001c0001t0001 a0001c0002t0001 a0003c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0002t0001g0001 a0003c0011t0001g0001	104	368	0.2826	-111	c.-26 others(11): Show c.-2678_-2568del		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					2658		chr16	TogoVar
HEATR6_chr17_60036008_60083921	60042366	TGGCTGTG others(104): Show TGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCA CTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCT CGCGTCCTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG02976.hp1 others(4): Show HG01109.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0141 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146	7	216	0.0324	-111	c.10 others(11): Show c.1086_*1196del		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				1086		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042588	CGGCTGTG others(104): Show CGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCA CTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCT CGCGTCCTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01891.hp1 HG02257.hp2 others(8): Show HG01346.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG02965.hp2 HG03209.hp2 HG03540.hp2 NA21309.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0015 a0001c0001 a0003c0003 a0011c0015	a0001c0001t0001 a0003c0003t0001 a0011c0015t0001 a0001c0001t0001 a0003c0003t0001 a0011c0015t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0150 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0003c0003t0001g0004 a0003c0003t0001g0151 a0011c0015t0001g0033	11	225	0.0489	-111	c.86 others(9): Show c.864_*974del		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				864		chr17	TogoVar

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