Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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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
ADAMTS2_chr5_179105853_179350461	179263207	CATTATTC others(105): Show CATTATTCCCCCATGATTTGGGGAGCAGCATTATTCCCCCATGATTTGGG GAGCAGCATTATTCCCCCATGATTTGGGGAGCAGCATTATTCCCCCATGA TTTGGGGAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	274	0.0036	-112	c.688 others(17): Show c.688+9592_688+9703del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277863	CCCTGAGA others(105): Show CCCTGAGACCAAAGGCTGACCCCCCTGCGAGACCAAAGGCTGACCCCCCC CCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACCCCCTCCAA GACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0181 a0001c0004t0026g0181	1	270	0.0037	-112	c.535 others(17): Show c.535-4911_535-4800del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRD1_chr12_130948907_131146469	131037367	TACTCACT others(105): Show TACTCACTGCACTGGGGTCTCACTCACTACACCAGGTCTCAGTCACTGCA CTGGGTCTCACTGCACCAGGATCTTACTCACTGCATGGGGCCTCACTCAC TGCACCGGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00621.hp2 others(53): Show HG00140.hp1 HG00323.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG01175.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp2 HG02486.hp1 HG02602.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp1 NA18957.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA19030.hp1 NA19080.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0023 a0001c0042 a0002c0012 a0002c0040 a0003c0029 a0007c0037 a0008c0026 a0011c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0048 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 a0001c0004t0002 a0001c0004t0009 a0001c0004t0015 a0001c0004t0024 a0001c0004t0043 a0001c0005t0001 a0001c0005t0008 a0001c0008t0001 a0001c0008t0003 a0001c0009t0004 a0001c0009t0014 a0001c0010t0039 a0001c0014t0012 a0001c0023t0004 a0001c0042t0007 a0002c0012t0017 a0002c0040t0022 a0003c0029t0031 a0007c0037t0042 a0008c0026t0013 a0011c0038t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 a0001c0001t0001g0212 a0001c0001t0002g0116 a0001c0001t0002g0150 a0001c0001t0002g0217 a0001c0001t0009g0167 a0001c0001t0011g0032 a0001c0001t0011g0073 a0001c0001t0011g0081 a0001c0001t0023g0144 a0001c0002t0001g0195 a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0003g0033 a0001c0002t0003g0039 a0001c0002t0003g0068 a0001c0002t0003g0070 a0001c0002t0003g0083 a0001c0002t0005g0040 a0001c0002t0048g0152 a0001c0003t0002g0187 a0001c0003t0004g0012 a0001c0003t0004g0198 a0001c0003t0006g0015 a0001c0003t0006g0211 a0001c0003t0012g0063 a0001c0003t0012g0088 a0001c0004t0002g0004 a0001c0004t0002g0005 a0001c0004t0002g0114 a0001c0004t0002g0156 a0001c0004t0002g0196 a0001c0004t0009g0169 a0001c0004t0015g0098 a0001c0004t0024g0134 a0001c0004t0043g0024 a0001c0005t0001g0044 a0001c0005t0008g0226 a0001c0008t0001g0184 a0001c0008t0003g0060 a0001c0008t0003g0067 a0001c0009t0004g0103 a0001c0009t0014g0037 a0001c0010t0039g0031 a0001c0014t0012g0069 a0001c0023t0004g0166 a0001c0042t0007g0177 a0002c0012t0017g0017 a0002c0040t0022g0096 a0003c0029t0031g0222 a0007c0037t0042g0046 a0008c0026t0013g0238 a0011c0038t0002g0163	56	240	0.2333	-112	c.147 others(21): Show c.1473+23043_1473+23154del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AFAP1_chr4_7753714_7944861	7798071	GATTGCAA others(105): Show GATTGCAACTCTATTGGCTGGCTCACGGCATTGCAACTCTATTGGCTGGC TCACAGCACTGCAACTCTATTGGCTGGCTCACGGCACTGCAACTCTACTG GCTGGCTCACGGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0033 a0002c0005t0033	a0002c0005t0033g0010 a0002c0005t0033g0010	1	257	0.0039	-112	c.126 others(19): Show c.1266+2259_1266+2370del	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	10/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7798101	TTGCAACT others(105): Show TTGCAACTCTATTGGCTGGCTCACAGCACTGCAACTCTATTGGCTGGCTC ACGGCACTGCAACTCTACTGGCTGGCTCACGGCACTGCAACTCTATTGGC TGGCTCACGGCAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01106.hp2 others(34): Show HG00140.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 NA18964.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0005 a0002c0008 a0002c0035 others(4): Show a0002c0005 a0002c0008 a0002c0035 a0002c0039 a0002c0040 a0004c0018 a0008c0042	a0002c0005t0004 a0002c0005t0033 a0002c0005t0035 others(11): Show a0002c0005t0004 a0002c0005t0033 a0002c0005t0035 a0002c0005t0063 a0002c0005t0064 a0002c0008t0004 a0002c0008t0031 a0002c0008t0054 a0002c0008t0055 a0002c0035t0001 a0002c0039t0072 a0002c0040t0073 a0004c0018t0004 a0008c0042t0004	a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 others(34): Show a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0004g0218 a0002c0005t0004g0219 a0002c0005t0004g0230 a0002c0005t0004g0244 a0002c0005t0004g0266 a0002c0005t0004g0279 a0002c0005t0004g0284 a0002c0005t0004g0285 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0005t0004g0306 a0002c0005t0004g0307 a0002c0005t0004g0308 a0002c0005t0033g0011 a0002c0005t0035g0317 a0002c0005t0035g0318 a0002c0005t0063g0015 a0002c0005t0064g0245 a0002c0008t0004g0146 a0002c0008t0004g0147 a0002c0008t0004g0149 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0031g0288 a0002c0008t0031g0289 a0002c0008t0054g0148 a0002c0008t0055g0133 a0002c0035t0001g0257 a0002c0039t0072g0314 a0002c0040t0073g0315 a0004c0018t0004g0214 a0004c0018t0004g0215 a0008c0042t0004g0231	37	261	0.1418	-112	c.126 others(19): Show c.1266+2229_1266+2340del	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	10/17			chr4	TogoVar
AGBL1_chr15_86074871_86921156	86827337	ATGTGTAT others(105): Show ATGTGTATATATATATATATATATATGTGTGTGTATATATATATATACAC ATATATATATACATATATATATGTGTATATATATATATATATACACATAT ATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02451.hp2 others(13): Show HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02735.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp1 NA18747.hp2 NA18994.hp2 NA20129.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0006 a0007 a0008 a0010 a0016	a0001c0001 a0001c0002 a0001c0007 others(12): Show a0001c0001 a0001c0002 a0001c0007 a0001c0019 a0001c0052 a0003c0011 a0003c0034 a0003c0041 a0004c0020 a0004c0031 a0006c0030 a0007c0016 a0008c0017 a0010c0014 a0016c0047	a0001c0001t0009 a0001c0002t0002 a0001c0007t0044 others(13): Show a0001c0001t0009 a0001c0002t0002 a0001c0007t0044 a0001c0019t0001 a0001c0052t0026 a0003c0011t0022 a0003c0034t0021 a0003c0041t0017 a0004c0020t0043 a0004c0031t0015 a0006c0030t0010 a0007c0016t0037 a0007c0016t0039 a0008c0017t0059 a0010c0014t0064 a0016c0047t0004	a0001c0001t0009g0103 a0001c0002t0002g0010 a0001c0007t0044g0114 others(13): Show a0001c0001t0009g0103 a0001c0002t0002g0010 a0001c0007t0044g0114 a0001c0019t0001g0058 a0001c0052t0026g0126 a0003c0011t0022g0052 a0003c0034t0021g0132 a0003c0041t0017g0117 a0004c0020t0043g0068 a0004c0031t0015g0108 a0006c0030t0010g0002 a0007c0016t0037g0049 a0007c0016t0039g0130 a0008c0017t0059g0070 a0010c0014t0064g0040 a0016c0047t0004g0087	16	117	0.1368	-112	c.315 others(21): Show c.3159-79748_3159-79637del	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALG6_chr1_63362627_63443553	63400209	ATATATAT others(105): Show ATATATATATATACGTATATATATATATATATATACGTATATATATGTAT ATATATATACGTATATATATATACGTATATATATATACGTATATATATGT ATATATATATACG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	386	0.0026	-112	c.168 others(17): Show c.168-2032_168-1921del	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG6_chr1_63362627_63443553	63400237	ATATATAC others(105): Show ATATATACGTATATATATGTATATATATATACGTATATATATATACGTAT ATATATATACGTATATATATGTATATATATATACGTATATATATATATAC GTATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18978.hp2 NA18986.hp2 NA18957.hp1 NA18978.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0101	3	385	0.0078	-112	c.168 others(17): Show c.168-2010_168-1899del	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56397933	AATATATA others(105): Show AATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATA TAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATG TATCATTTATAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02135.hp1 HG04199.hp1 HG00423.hp1 HG02135.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0203 a0001c0001t0010g0205 a0001c0001t0010g0208 a0001c0001t0010g0203 a0001c0001t0010g0205 a0001c0001t0010g0208	3	354	0.0085	-112	c.108 others(19): Show c.1085+3688_1085+3799del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9277706	GAGGTGGG others(105): Show GAGGTGGGAAACTGTTAGACAAAAACATTAAGAAATTTCTGATAAGATTT AAAATAGATGAAAACATATTGGTAATCAAATACAGCAGAGTTGAGGAATG CCCAGTATCATAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01884.hp1 others(37): Show HG00140.hp1 HG00639.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02132.hp2 HG02135.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03654.hp2 NA18955.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18997.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19055.hp2 NA19064.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19090.hp1	a0004 a0006 a0007 a0004 a0006 a0007	a0004c0004 a0004c0028 a0006c0005 others(1): Show a0004c0004 a0004c0028 a0006c0005 a0007c0027	a0004c0004t0004 a0004c0004t0013 a0004c0004t0016 others(8): Show a0004c0004t0004 a0004c0004t0013 a0004c0004t0016 a0004c0004t0022 a0004c0004t0035 a0004c0004t0036 a0004c0004t0037 a0004c0028t0004 a0006c0005t0014 a0006c0005t0039 a0007c0027t0004	a0004c0004t0004g0281 a0004c0004t0004g0283 a0004c0004t0004g0284 others(37): Show a0004c0004t0004g0281 a0004c0004t0004g0283 a0004c0004t0004g0284 a0004c0004t0004g0285 a0004c0004t0004g0286 a0004c0004t0004g0287 a0004c0004t0004g0288 a0004c0004t0004g0290 a0004c0004t0004g0292 a0004c0004t0004g0294 a0004c0004t0004g0295 a0004c0004t0004g0296 a0004c0004t0004g0297 a0004c0004t0004g0298 a0004c0004t0004g0300 a0004c0004t0004g0301 a0004c0004t0004g0302 a0004c0004t0004g0303 a0004c0004t0004g0304 a0004c0004t0004g0305 a0004c0004t0004g0308 a0004c0004t0013g0311 a0004c0004t0013g0312 a0004c0004t0013g0313 a0004c0004t0013g0314 a0004c0004t0016g0291 a0004c0004t0016g0299 a0004c0004t0016g0306 a0004c0004t0022g0272 a0004c0004t0022g0307 a0004c0004t0035g0293 a0004c0004t0036g0289 a0004c0004t0037g0310 a0004c0028t0004g0282 a0006c0005t0014g0006 a0006c0005t0014g0007 a0006c0005t0014g0008 a0006c0005t0014g0009 a0006c0005t0039g0166 a0007c0027t0004g0309	40	316	0.1266	-112	c.590 others(19): Show c.5908-1838_5908-1727del	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANO2_chr12_5557655_5950259	5610202	TATAAATA others(105): Show TATAAATACTTATATAAATATATACTTATATAAATATATAAATGCATATA TTTATACATAAATATATAAATGCATATATTTATACATAAATATATAAATG CATATATTTATAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02273.hp2 NA18944.hp1 HG01978.hp2 HG02273.hp2 NA18944.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0013 a0001c0002 a0006c0013	a0001c0002t0002 a0006c0013t0001 a0001c0002t0002 a0006c0013t0001	a0001c0002t0002g0126 a0006c0013t0001g0094 a0006c0013t0001g0123 a0001c0002t0002g0126 a0006c0013t0001g0094 a0006c0013t0001g0123	3	156	0.0192	-112	c.208 others(19): Show c.2087+2342_2087+2453del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26529128	TATAATAT others(105): Show TATAATATATATTATATAATAATATATATTATATATAATATATATTATTA ATAATATATATTATATATAATTATATAATATATATTATATAATATAATAT ATAATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(93): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG01952.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02735.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18977.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0014 a0001c0015 a0002c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0027 a0001c0002t0028 a0001c0003t0002 a0001c0003t0007 a0001c0004t0003 a0001c0004t0004 a0001c0004t0017 a0001c0005t0005 a0001c0005t0025 a0001c0006t0005 a0001c0006t0006 a0001c0006t0010 a0001c0006t0012 a0001c0006t0024 a0001c0006t0029 a0001c0009t0004 a0001c0013t0004 a0001c0014t0006 a0001c0015t0001 a0002c0016t0004	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 others(93): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0003g0084 a0001c0001t0003g0132 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0160 a0001c0001t0005g0029 a0001c0001t0015g0014 a0001c0001t0020g0080 a0001c0001t0026g0054 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0043 a0001c0002t0002g0049 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0072 a0001c0002t0002g0088 a0001c0002t0002g0097 a0001c0002t0002g0103 a0001c0002t0002g0119 a0001c0002t0002g0181 a0001c0002t0002g0188 a0001c0002t0007g0083 a0001c0002t0007g0137 a0001c0002t0011g0108 a0001c0002t0011g0112 a0001c0002t0011g0114 a0001c0002t0011g0140 a0001c0002t0011g0141 a0001c0002t0027g0154 a0001c0002t0028g0113 a0001c0003t0002g0105 a0001c0003t0007g0186 a0001c0004t0003g0001 a0001c0004t0003g0002 a0001c0004t0003g0017 a0001c0004t0003g0018 a0001c0004t0003g0024 a0001c0004t0003g0025 a0001c0004t0003g0075 a0001c0004t0003g0102 a0001c0004t0003g0124 a0001c0004t0003g0166 a0001c0004t0004g0052 a0001c0004t0004g0059 a0001c0004t0004g0090 a0001c0004t0004g0107 a0001c0004t0004g0116 a0001c0004t0004g0118 a0001c0004t0004g0125 a0001c0004t0004g0162 a0001c0004t0017g0069 a0001c0005t0005g0019 a0001c0005t0005g0170 a0001c0005t0025g0161 a0001c0006t0005g0042 a0001c0006t0005g0096 a0001c0006t0005g0136 a0001c0006t0006g0065 a0001c0006t0006g0086 a0001c0006t0006g0106 a0001c0006t0006g0135 a0001c0006t0006g0164 a0001c0006t0010g0066 a0001c0006t0010g0179 a0001c0006t0012g0180 a0001c0006t0024g0060 a0001c0006t0029g0176 a0001c0009t0004g0035 a0001c0013t0004g0098 a0001c0014t0006g0126 a0001c0015t0001g0163 a0002c0016t0004g0053	96	188	0.5106	-112	c.738 others(17): Show c.738-2076_738-1965del	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26			chr11	TogoVar
AP2A1_chr19_49762001_49812114	49792210	GGGGCTCC others(105): Show GGGGCTCCCACCTCAGCCCTCACGCCCCCGGATACCCAGGGCTCCCACCT CAGCCCTCACGCCCCCTGGATGCCCAGGGCTCCCACCTCAGCCCTCACGC CCCCGGATACCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp1 NA20300.hp1 HG02055.hp2 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0001t0001g0211	3	340	0.0088	-112	c.603 others(15): Show c.603+220_603+331del	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
APELA_chr4_164872178_164902527	164902065	CCCTCATG others(105): Show CCCTCATGTGACTTCTCTCACTGTGCCTCAGTGCAGCCCCTACCCCTGAC CCCAGGGCAGCCCTTGCTCCCTCCTGGCTCCCAGGGCCATGAACAATCCC AGCCCCTGCTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00733.hp2 others(31): Show HG00280.hp2 HG00597.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02109.hp2 HG02257.hp2 HG02698.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2 NA18965.hp1 NA18978.hp2 NA18982.hp1 NA18991.hp1 NA19001.hp2 NA19057.hp2 NA19062.hp2 NA19072.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0003t0017	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0053 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0003g0221 a0001c0001t0014g0022 a0001c0001t0014g0225 a0001c0001t0018g0060 a0001c0001t0019g0223 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0041 a0001c0002t0001g0162 a0001c0003t0017g0169	34	432	0.0787	-112	c.66 others(11): Show c.6652_*6763del	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		4539		chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1888220	TGCGAGGA others(105): Show TGCGAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGG GCTGTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGA GTGGGATGTTGAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0002 a0002c0074t0002	a0002c0074t0002g0057 a0002c0074t0002g0057	1	362	0.0028	-112	c.118 others(19): Show c.1182+2514_1182+2625del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28			chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221138	CATATATA others(105): Show CATATATATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	270	0.0037	-112	c.670 others(17): Show c.670+3263_670+3374del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221143	ATATATAG others(105): Show ATATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp1 HG03486.hp2 others(1): Show HG01891.hp1 HG03471.hp1 HG03486.hp2 NA19057.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0012 a0004c0010t0001 a0001c0001t0001 a0001c0001t0012 a0004c0010t0001	a0001c0001t0001g0091 a0001c0001t0001g0214 a0001c0001t0012g0001 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0214 a0001c0001t0012g0001 a0004c0010t0001g0090	4	174	0.0230	-112	c.670 others(17): Show c.670+3326_670+3437del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARMC8_chr3_138182301_138303373	138194293	GCGGCCTC others(105): Show GCGGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCT	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19079.hp1 NA18986.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	244	0.0082	-112	c.45+ others(15): Show c.45+6698_45+6809del	ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP2_chr2_9201812_9410678	9406031	GTGTCACT others(105): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG02735.hp2 HG03225.hp1 others(3): Show HG01358.hp2 HG02735.hp2 HG03225.hp1 HG03239.hp2 HG03654.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0001 a0001c0003t0006 a0002c0001t0001 others(1): Show a0001c0003t0001 a0001c0003t0006 a0002c0001t0001 a0002c0005t0001	a0001c0003t0001g0190 a0001c0003t0006g0006 a0002c0001t0001g0036 others(3): Show a0001c0003t0001g0190 a0001c0003t0006g0006 a0002c0001t0001g0036 a0002c0001t0001g0089 a0002c0001t0001g0140 a0002c0005t0001g0131	6	127	0.0472	-112	c.27 others(11): Show c.2705_*2816del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406228	CGTCTTCC others(105): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01346.hp1 HG01891.hp1 others(7): Show HG00741.hp2 HG01346.hp1 HG01891.hp1 HG02165.hp1 HG02280.hp2 HG02698.hp1 HG03041.hp1 HG03225.hp1 NA19065.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0002c0001t0001	a0001c0002t0002g0137 a0001c0002t0006g0183 a0001c0003t0001g0190 others(7): Show a0001c0002t0002g0137 a0001c0002t0006g0183 a0001c0003t0001g0190 a0002c0001t0001g0062 a0002c0001t0001g0075 a0002c0001t0001g0083 a0002c0001t0001g0090 a0002c0001t0001g0110 a0002c0001t0001g0121 a0002c0001t0001g0146	10	181	0.0552	-112	c.29 others(11): Show c.2902_*3013del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		551		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406449	TCTAGTCT others(105): Show TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG04199.hp1 NA20905.hp2 HG01256.hp1 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0129 a0001c0002t0002g0177 a0001c0002t0002g0026 a0001c0002t0002g0129 a0001c0002t0002g0177	3	209	0.0144	-112	c.31 others(11): Show c.3123_*3234del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		772		chr2	TogoVar
ASCC3_chr6_100503194_100886329	100608462	CTTTATAT others(105): Show CTTTATATATATATACTTTATATATATACTTTATATATATATACTTTATA TATATACTTTATATATATATACTTTATATATATACTTTATATATATATAC TTTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	154	0.0065	-112	c.478 others(19): Show c.4786-1486_4786-1375del	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASTN1_chr1_176856067_177169712	177149662	TATAGTAA others(105): Show TATAGTAAATATATATACACTGTATATACATAGTAAATATATATACACTG TATATACATAGTAAATATATATACACTGTATATACATAGTAAATATATAT ACACTGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02922.hp1 others(1): Show HG02647.hp1 HG02809.hp1 HG02922.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 a0001c0002t0020	a0001c0001t0002g0022 a0001c0002t0001g0008 a0001c0002t0011g0009 others(1): Show a0001c0001t0002g0022 a0001c0002t0001g0008 a0001c0002t0011g0009 a0001c0002t0020g0007	4	97	0.0412	-112	c.283 others(19): Show c.283+14620_283+14731del	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ATP10A_chr15_25673712_25868327	25757928	CCACCTGC others(105): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCT AACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	249	0.0040	-112	c.655 others(19): Show c.655-21899_655-21788del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757984	TCACCTGC others(105): Show TCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0232 a0017c0023t0001g0232	1	170	0.0059	-112	c.655 others(19): Show c.655-21955_655-21844del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758348	CCACCTGA others(105): Show CCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	237	0.0042	-112	c.655 others(19): Show c.655-22319_655-22208del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112804043	CCCTCCTT others(105): Show CCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0220 a0001c0001t0066g0220	1	248	0.0040	-112	c.163 others(15): Show c.163-911_163-800del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BBS4_chr15_72681207_72743473	72725819	CCCCCTTT others(105): Show CCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTT CCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCC CCCTTCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp2 others(15): Show HG00544.hp1 HG00544.hp2 HG00597.hp2 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG03491.hp1 NA18612.hp2 NA18939.hp2 NA18951.hp2 NA18959.hp2 NA18978.hp2 NA18981.hp2 NA18991.hp2 NA19064.hp2 NA19081.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0162 others(15): Show a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0309 a0001c0001t0002g0393 a0001c0001t0002g0394	18	396	0.0455	-112	c.587 others(17): Show c.587+1171_587+1282del	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BOLA2_chr16_29448593_29459351	29449170	AATATTAT others(105): Show AATATTATTTCTTATAATAATACCGGCGCAGGAGGGCAGCACCAGAGGCC AGTGGCACTCCCAGCTCGGTGAGAGGGCTGGGAAGCCAGGGAATAAAACT GGGAGGGTGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01255.hp2 HG02738.hp1 others(8): Show HG00639.hp2 HG01255.hp2 HG02738.hp1 HG04184.hp1 NA18946.hp2 NA18995.hp2 NA19055.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	174	0.0632	-112	c.43 others(11): Show c.4351_*4462del	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		4422		chr16	TogoVar
BRSK2_chr11_1384934_1467689	1410207	ACAGAGTC others(105): Show ACAGAGTCCGTGTTTGGGGGGGTTTGTGACGTCGGCCTCGCAGAGCGGTG ACAGTTGCAGAGTCCGTGTTTGGGGGGGTTTGTGACGTCGGCCTCGCAGA GCGGTGACAGTTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0327 a0002c0002t0015g0327	1	333	0.0030	-112	c.91+ others(17): Show c.91+19884_91+19995del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1410262	TGCAGAGT others(105): Show TGCAGAGTCCGTGTTTGGGGGGGTTTGTGACGTCGGCCTCGCAGAGCGGT GACAGTTGCAGAGTCCGTGTTTGGGGGGGTTTGTGACGTCGGCCTCGCAG AGCGGTGACGGTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0070 a0001c0001t0032 a0001c0001t0070	a0001c0001t0032g0202 a0001c0001t0070g0203 a0001c0001t0032g0202 a0001c0001t0070g0203	2	358	0.0056	-112	c.91+ others(17): Show c.91+19964_91+20075del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C7orf50_chr7_992006_1143247	1032454	ACCCACAC others(105): Show ACCCACACCGCCAGGCACCCCCAGGTGACAGTGGCCCTCAGAGGCCGCAG CCACCCGCCCACACCGCCAGGCACCCCCAGGTGACAGTGGCCCTCAGAGG CCGCAGCCACCCG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0291	1	312	0.0032	-112	c.130 others(19): Show c.130-22423_130-22312del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1041246	ACCTGGGC others(105): Show ACCTGGGCTCCGCGCTGCGGGGAAGGGGACCTGGGCTCCGCGCTGCGGGG AAGGGGACCTGGGGTCCGCGCTGCGGGGAAGGGGGCCTGGGGTCCGCGCT GCGGGGAAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(3): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01433.hp2 HG03927.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0003 a0001c0001 a0006c0003	a0001c0001t0006 a0001c0001t0011 a0006c0003t0011 a0001c0001t0006 a0001c0001t0011 a0006c0003t0011	a0001c0001t0006g0030 a0001c0001t0006g0059 a0001c0001t0011g0252 others(3): Show a0001c0001t0006g0030 a0001c0001t0006g0059 a0001c0001t0011g0252 a0001c0001t0011g0273 a0001c0001t0011g0274 a0006c0003t0011g0270	6	324	0.0185	-112	c.130 others(19): Show c.130-31215_130-31104del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1E_chr1_181478517_181813084	181515066	TGACTTTT others(105): Show TGACTTTTCCCCATACTGGCAGTTACTTCACAACCCCAAGGGCCCCATGG TTCTAAGGCTCTGTGGTTGCAGGTTCCTTTAGTCCCCGTGAGGCAGTGTG GGATGAGCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	204	0.0049	-112	c.512 others(17): Show c.512+3559_512+3670del	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNB2_chr10_18135424_18548557	18442909	AATATATA others(105): Show AATATATATATATATATGTATATATATATATATGTGTATATATATATATG TATATATATATGTGTATATATATATATGTATATATATATGTGTATATATA TATATGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0124 a0001c0001t0021g0124	1	163	0.0061	-112	c.333 others(19): Show c.333+40882_333+40993del	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442909	AATATATA others(105): Show AATATATATATATATATGTATATATATATATATGTGTATATATATATATG TATATATATATGTGTATATATATATATGTATATATATATGTGTATATATA TATATGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	244	0.0041	-112	c.171 others(19): Show c.171+40882_171+40993del	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227600	GGTGTGGG others(105): Show GGTGTGGGGGACAGAGGGAGTGTGGGGGACAGAGGAGGGTCTGGAGGACA GAGGGAGAGTGTAGGGAACAGAGGGGGTGTGGGGGACAGAAAAGGGCGTG AAGGGACCAAGGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02615.hp1 others(5): Show HG01070.hp1 HG01071.hp1 HG02615.hp1 HG02818.hp1 HG03209.hp2 NA19043.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0002c0005t0007	a0001c0001t0001g0093 a0001c0001t0002g0022 a0001c0001t0002g0076 others(4): Show a0001c0001t0001g0093 a0001c0001t0002g0022 a0001c0001t0002g0076 a0001c0001t0002g0156 a0001c0001t0011g0005 a0001c0002t0001g0111 a0002c0005t0007g0135	8	237	0.0338	-112	c.146 others(18): Show c.1469-1068_1469-957del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC102B_chr18_68793080_69060189	68956458	ATTTTATA others(105): Show ATTTTATATATATATTATATATATATAATATATATATAAAATATATAATA TATATATCGCATATTATATATATTATATATTTTATATATATAAATATTAT ATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(54): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01106.hp2 HG01243.hp2 HG01258.hp2 HG01496.hp1 HG01943.hp1 HG02071.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02486.hp1 HG02559.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18956.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19002.hp2 NA19004.hp1 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013	a0001c0001 a0001c0007 a0001c0030 others(9): Show a0001c0001 a0001c0007 a0001c0030 a0002c0002 a0002c0005 a0002c0009 a0003c0004 a0003c0011 a0004c0006 a0006c0012 a0007c0010 a0013c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0007t0001 a0001c0030t0001 a0002c0002t0001 a0002c0005t0001 a0002c0005t0005 a0002c0009t0001 a0003c0004t0001 a0003c0004t0009 a0003c0011t0001 a0004c0006t0001 a0006c0012t0001 a0007c0010t0001 a0013c0016t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 others(54): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0004g0150 a0001c0001t0007g0196 a0001c0007t0001g0185 a0001c0007t0001g0200 a0001c0007t0001g0214 a0001c0030t0001g0024 a0002c0002t0001g0010 a0002c0002t0001g0043 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0067 a0002c0002t0001g0192 a0002c0005t0001g0040 a0002c0005t0001g0042 a0002c0005t0001g0131 a0002c0005t0005g0035 a0002c0009t0001g0152 a0003c0004t0001g0030 a0003c0004t0001g0176 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0184 a0003c0004t0009g0174 a0003c0011t0001g0115 a0003c0011t0001g0117 a0004c0006t0001g0083 a0004c0006t0001g0084 a0004c0006t0001g0130 a0006c0012t0001g0034 a0006c0012t0001g0070 a0007c0010t0001g0146 a0013c0016t0001g0020	57	214	0.2664	-112	c.126 others(21): Show c.1264-54472_1264-54361del	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDC34_chr19_526760_547087	540194	CCCCCCGG others(105): Show CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGC CGGGGTGGCCAGG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	326	0.0031	-112	c.498 others(17): Show c.498-1139_498-1028del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDCP1_chr3_45077277_45151378	45108693	GTGCATGT others(105): Show GTGCATGTATACATATATATATGCATGTATACATATATATATGCATGTAT ACATATATATGCATGTATATATATATATGCATGTATACATATATATGCAT GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	381	0.0026	-112	c.102 others(19): Show c.1024+1668_1024+1779del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45108776	TATACATA others(105): Show TATACATATATATGCATGTATATATATATATGCATGTATACATATATATG CATGTATATATATATATGCATGTATACATATATATGCATGTATATATATA TATGCATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01258.hp2 others(10): Show HG01069.hp1 HG01256.hp1 HG01258.hp2 HG02132.hp1 HG02145.hp1 HG02622.hp2 HG02809.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp1 HG03516.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0006 a0004c0010	a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 others(6): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 a0001c0007t0008 a0002c0002t0002 a0002c0002t0016 a0003c0006t0011 a0004c0010t0007 a0004c0010t0011	a0001c0001t0003g0204 a0001c0001t0009g0372 a0001c0001t0024g0323 others(10): Show a0001c0001t0003g0204 a0001c0001t0009g0372 a0001c0001t0024g0323 a0001c0001t0024g0324 a0001c0007t0008g0142 a0001c0007t0008g0314 a0001c0007t0008g0315 a0001c0007t0008g0359 a0002c0002t0002g0338 a0002c0002t0016g0155 a0003c0006t0011g0380 a0004c0010t0007g0267 a0004c0010t0011g0259	13	382	0.0340	-112	c.102 others(19): Show c.1024+1585_1024+1696del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDH7_chr18_65746012_65895337	65782016	CTCTCTCT others(105): Show CTCTCTCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03831.hp1 HG03098.hp1 HG03225.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0007 a0001c0006t0060 a0002c0004t0094 a0001c0001t0007 a0001c0006t0060 a0002c0004t0094	a0001c0001t0007g0029 a0001c0006t0060g0096 a0002c0004t0094g0095 a0001c0001t0007g0029 a0001c0006t0060g0096 a0002c0004t0094g0095	3	172	0.0174	-112	c.210 others(19): Show c.210+18968_210+19079del	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CENPE_chr4_103100811_103203343	103112757	TATATATA others(105): Show TATATATACTTATAAGTATATAAGTGTATATATATACTTATAAGTATATA AGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTTATAAG TATATAAGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	318	0.0031	-112	c.754 others(19): Show c.7540+1586_7540+1697del	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112813	TATATATA others(105): Show TATATATACTTATAAGTATATAAGTGTATATATATACTTATAAGTATATA AGTGTACATATATACTTATAAGTATATAAGTGTACATATATACTTATAAG TATATAAGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG02976.hp1 HG02723.hp1 HG02818.hp2 HG02976.hp1	a0004 a0006 a0009 a0004 a0006 a0009	a0004c0005 a0006c0008 a0009c0011 a0004c0005 a0006c0008 a0009c0011	a0004c0005t0001 a0006c0008t0001 a0009c0011t0001 a0004c0005t0001 a0006c0008t0001 a0009c0011t0001	a0004c0005t0001g0076 a0006c0008t0001g0294 a0009c0011t0001g0013 a0004c0005t0001g0076 a0006c0008t0001g0294 a0009c0011t0001g0013	3	305	0.0098	-112	c.754 others(19): Show c.7540+1530_7540+1641del	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPVL3_chrX_51612020_51623912	51621578	CTTCTTCT others(105): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	294	0.0034	-112	c.-28 others(11): Show c.-2817_-2706del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2667		chrX	TogoVar
CEP72_chr5_607340_658553	610812	TTGCACAC others(105): Show TTGCACACACCTCCTGCACACACCTCCTGCACACACTGTTGCACACACCC CCACACATAGCCCCTACACACACCTCTGCACATACTGTTGCACACACCCC CACACATAGCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	89	0.0112	-112	c.-15 others(11): Show c.-1549_-1438del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding		1527		chr5	TogoVar
CLSTN2_chr3_139930185_140582397	140490013	TGTGTGTG others(105): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA TATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03486.hp2 HG01109.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0026 a0002c0010t0003 a0002c0002t0026 a0002c0010t0003	a0002c0002t0026g0094 a0002c0010t0003g0109 a0002c0002t0026g0094 a0002c0010t0003g0109	2	92	0.0217	-112	c.134 others(21): Show c.1344+23283_1344+23394del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16			chr3	TogoVar
CNMD_chr13_52698264_52744820	52707298	GCACCTCG others(105): Show GCACCTCGTGTCATCCTCACAAACATCACTTTTCAGTGTTTCAGCCTAAA GCGTTTTACATCTAAGTGTGGGTCTATCCTCTAACTGAAGTGAGAGCCCC TGAGGGCAGATGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(55): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18968.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18993.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19055.hp2 NA19083.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0034 others(40): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0002g0015 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0156 a0001c0001t0002g0175 a0001c0001t0002g0200	58	328	0.1768	-112	c.789 others(17): Show c.789+1126_789+1237del	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding	6/6			chr13	TogoVar
CNTRL_chr9_121069955_121182610	121092443	GATAATAT others(105): Show GATAATATATATCTATATATATATAATATATATCTATATATATAATATAT ATCTATATATATAATATATATCTATATATATAATATATATCTATATATAT TATATATATCTAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18522.hp1 HG01109.hp2 NA18522.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0030 a0002c0006t0001g0031 a0002c0006t0001g0030 a0002c0006t0001g0031	2	327	0.0061	-112	c.348 others(17): Show c.348+2042_348+2153del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTRL_chr9_121069955_121182610	121092535	ATATATAT others(105): Show ATATATATTATATATATCTATATATATAATATATATCTATATATATAATA TATATCTATATATATAATATATATCTATATATATTATATATATCTATATA TATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	320	0.0063	-112	c.348 others(17): Show c.348+2138_349-2234del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar

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