Joint Open Genome and Omics Platform (JoGo)

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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
ARHGEF18_chr19_7343937_7477478	7362035	GAGAAGGA others(128): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp2 HG02572.hp1 others(4): Show HG01123.hp1 HG01891.hp2 HG02572.hp1 HG02723.hp1 HG02809.hp2 HG03139.hp1 NA18944.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0034 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0034 a0003c0003t0001 a0003c0003t0002	a0001c0001t0002g0047 a0001c0001t0005g0291 a0001c0001t0005g0292 others(4): Show a0001c0001t0002g0047 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0295 a0001c0001t0034g0294 a0003c0003t0001g0263 a0003c0003t0002g0207	7	298	0.0235	-135	c.-11 others(17): Show c.-110-734_-110-600del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP1B3_chr3_141871643_141931549	141890581	GCGTGAGC others(128): Show GCGTGAGCCACCACGCCCACCTAATTTTTGTATTTTTAGTAGAGACTGGG TTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCTTGACCTCAAGTGATCT GCCCACCTCTGCCTCCCACAGTGCTGGGATTACAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG01891.hp2 others(23): Show HG00735.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0004t0001	a0001c0001t0001g0079 a0001c0001t0001g0330 a0001c0001t0001g0331 others(23): Show a0001c0001t0001g0079 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0002g0307 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0003g0106 a0001c0001t0003g0302 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0007g0308 a0001c0001t0007g0314 a0001c0001t0007g0317 a0001c0001t0008g0303 a0001c0001t0009g0076 a0001c0001t0009g0077 a0001c0001t0009g0078 a0001c0004t0001g0304	26	408	0.0637	-135	c.110 others(19): Show c.110-12962_110-12828del	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCL11A_chr2_60452194_60558654	60467519	GTGGTGAT others(128): Show GTGGTGATGGTGATGGTGATGGTACTGGTGATGGTGGTGGTGGTAGTGAT GGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGG TGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0068 a0001c0001t0037g0068	1	262	0.0038	-135	c.487 others(17): Show c.487+1078_487+1212del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BMP1_chr8_22160372_22206482	22206195	TGTCTCTA others(128): Show TGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCTCCTGAGGTCGGG AGTTTGAGACTAGCCTGGCCAACATGGCGAAACCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	418	0.0024	-135	c.49 others(11): Show c.4993_*5127del	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding		4714		chr8	TogoVar
BMP1_chr8_22160372_22217326	22206195	TGTCTCTA others(128): Show TGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCTCCTGAGGTCGGG AGTTTGAGACTAGCCTGGCCAACATGGCGAAACCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	408	0.0025	-135	c.223 others(17): Show c.2234-628_2234-494del	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
C10orf90_chr10_126419997_126675693	126564837	TATATATT others(128): Show TATATATTATATATTATATAAAATATATATTATATATAATATATAAAATA TATTATATATAATATATAAAATATATATTATATATAATATATAAAATATA AAATATATATAATATATAAAATATAAAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18522.hp1 HG02630.hp2 NA18522.hp1	a0003 a0003	a0003c0002 a0003c0013 a0003c0002 a0003c0013	a0003c0002t0005 a0003c0013t0002 a0003c0002t0005 a0003c0013t0002	a0003c0002t0005g0025 a0003c0013t0002g0151 a0003c0002t0005g0025 a0003c0013t0002g0151	2	218	0.0092	-135	c.314 others(19): Show c.314-51033_314-50899del	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf56_chr12_64259762_64395758	64366734	CATACAGT others(128): Show CATACAGTTTATATATATTATATATAACATACAGTTTATATATATTATAT ATAACATACAGTTTATATATATTATATATAACATACAGTTTATATATATT ATATATAACATACAGTTTATATATATTATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	312	0.0032	-135	c.253 others(19): Show c.253-13813_253-13679del	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
CAB39L_chr13_49303650_49449064	49318496	GGGAAAGG others(128): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG02896.hp1 HG02280.hp1 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0135 a0001c0001t0006g0260 a0001c0001t0006g0104 a0001c0001t0006g0135 a0001c0001t0006g0260	3	324	0.0093	-135	c.835 others(17): Show c.835-7638_835-7504del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNG7_chr19_53904278_53948950	53921552	GCCCCAGG others(128): Show GCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTCGTCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATT GGTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	364	0.0028	-135	c.424 others(17): Show c.424+6048_424+6182del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CADM2_chr3_84953989_86079429	85769028	TAGTATAT others(128): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATAGTATATATACACATATATACATATATGTATATATACACATATAT ACATATATAGTATATATACACATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02615.hp1 HG02683.hp2 others(8): Show HG02015.hp1 HG02615.hp1 HG02683.hp2 HG03492.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18989.hp2 NA19043.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0018 a0001c0001t0037 a0001c0001t0043 a0002c0005t0004	a0001c0001t0001g0016 a0001c0001t0004g0053 a0001c0001t0004g0064 others(8): Show a0001c0001t0001g0016 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0018g0039 a0001c0001t0037g0054 a0001c0001t0043g0060 a0002c0005t0004g0058	11	146	0.0753	-135	c.89- others(17): Show c.89-33018_89-32884del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85769055	TAGTATAT others(128): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATGTATATATACACATATATACATATATAGTATATATACACATATAT ACATATATAGTATATATACACATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp1 NA19030.hp2 HG02630.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0036 a0001c0003t0026 a0001c0001t0007 a0001c0001t0036 a0001c0003t0026	a0001c0001t0007g0029 a0001c0001t0036g0106 a0001c0003t0026g0015 a0001c0001t0007g0029 a0001c0001t0036g0106 a0001c0003t0026g0015	3	146	0.0206	-135	c.89- others(17): Show c.89-32991_89-32857del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12775985	AGGTGAGA others(128): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02602.hp2 NA18522.hp2 others(1): Show HG02165.hp2 HG02602.hp2 NA18522.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0078 a0001c0001t0094 others(1): Show a0001c0001t0006 a0001c0001t0078 a0001c0001t0094 a0001c0002t0025	a0001c0001t0006g0073 a0001c0001t0078g0199 a0001c0001t0094g0094 others(1): Show a0001c0001t0006g0073 a0001c0001t0078g0199 a0001c0001t0094g0094 a0001c0002t0025g0146	4	214	0.0187	-135	c.565 others(17): Show c.565+6188_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227637	GGTCTGGA others(128): Show GGTCTGGAGGACAGAGGGAGAGTGTAGGGAACAGAGGGGGTGTGGGGGAC AGAAAAGGGCGTGAAGGGACCAAGGTGGGTGTGGGGGACAGAGGGGTATA TGGGGGACAGAGGAGGGTGTGGGGGACAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01258.hp1 HG01361.hp1 HG00140.hp2 HG01258.hp1 HG01361.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0002c0009 a0001c0003 a0002c0005 a0002c0009	a0001c0003t0004 a0002c0005t0004 a0002c0009t0004 a0001c0003t0004 a0002c0005t0004 a0002c0009t0004	a0001c0003t0004g0180 a0002c0005t0004g0171 a0002c0009t0004g0070 a0001c0003t0004g0180 a0002c0005t0004g0171 a0002c0009t0004g0070	3	242	0.0124	-135	c.146 others(18): Show c.1468+1024_1469-994del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CBL_chr11_119201339_119313149	119282106	AGCGGGCA others(128): Show AGCGGGCAGATCACCTGAGATCAGAAGTTCCATACCAGCCTGGCCAGTGT GGTGAAACCCTGTCTCTACTAAAAATACGAAAATTAGCCAGGCATGGTGG CGCATGCCTATAATCCCAGTTACTTGGGAGGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02615.hp2 HG02717.hp1 HG02922.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0029 a0006c0010t0001 a0001c0001t0001 a0001c0001t0029 a0006c0010t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(9): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0226 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0029g0153 a0001c0001t0029g0223 a0006c0010t0001g0142	12	364	0.0330	-135	c.143 others(19): Show c.1432-2860_1432-2726del	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC183_chr9_136791338_136812741	136803079	CGGGGGCC others(128): Show CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03471.hp2 NA21309.hp1 HG01192.hp2 HG03471.hp2 NA21309.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0002 a0004c0004t0001 a0005c0005t0001 a0001c0001t0002 a0004c0004t0001 a0005c0005t0001	a0001c0001t0002g0347 a0004c0004t0001g0141 a0005c0005t0001g0077 a0001c0001t0002g0347 a0004c0004t0001g0141 a0005c0005t0001g0077	3	398	0.0075	-135	c.666 others(15): Show c.666+377_666+511del	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC47_chr17_63740255_63778597	63747984	AGCTGGGA others(128): Show AGCTGGGATTACAGGCATGTGCCACCACACCCAGCTGATTTTTGTATTTT TAGCAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTG ACCTCAGGCAATTCACCGACTATGGCCTCCCAACGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02145.hp1 others(7): Show HG01099.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp2 HG02572.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0208 a0001c0001t0003g0209 others(6): Show a0001c0001t0003g0005 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229	10	352	0.0284	-135	c.137 others(19): Show c.1372-1158_1372-1024del	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	12/12			chr17	TogoVar
CDH5_chr16_66361691_66409784	66379896	CGGTGATG others(128): Show CGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTG ATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGT GGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0002c0003 a0002c0018 a0003c0006 a0005c0020 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0001c0002t0023 a0001c0004t0001 a0001c0004t0005 a0001c0005t0003 a0001c0009t0001 a0002c0003t0002 a0002c0018t0002 a0003c0006t0001 a0005c0020t0001 a0009c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0021 others(138): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0361 a0001c0001t0002g0001 a0001c0001t0002g0353 a0001c0001t0008g0040 a0001c0001t0014g0138 a0001c0001t0018g0284 a0001c0001t0020g0338 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0042 a0001c0002t0001g0061 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0180 a0001c0002t0001g0198 a0001c0002t0001g0202 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0002g0056 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0019g0057 a0001c0002t0023g0175 a0001c0004t0001g0018 a0001c0004t0001g0053 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0079 a0001c0004t0001g0084 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0266 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0339 a0001c0004t0005g0004 a0001c0005t0003g0049 a0001c0005t0003g0050 a0001c0005t0003g0229 a0001c0009t0001g0336 a0001c0009t0001g0337 a0002c0003t0002g0272 a0002c0018t0002g0134 a0003c0006t0001g0001 a0003c0006t0001g0021 a0003c0006t0001g0172 a0003c0006t0001g0216 a0003c0006t0001g0217 a0005c0020t0001g0058 a0009c0016t0001g0285	153	404	0.3787	-135	c.210 others(15): Show c.210+426_210+560del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH5_chr16_66361691_66409784	66379986	CGGTGATG others(128): Show CGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTG ATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGT GGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	404	0.0025	-135	c.210 others(15): Show c.210+471_210+605del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH5_chr16_66361691_66409784	66380018	GTGGTGGT others(128): Show GTGGTGGTGATCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGT GGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGA TCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp1 HG02965.hp1 others(2): Show HG01433.hp1 HG02257.hp1 HG02965.hp1 HG03139.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0263 a0001c0001t0001g0304 a0001c0001t0001g0346 others(2): Show a0001c0001t0001g0263 a0001c0001t0001g0304 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0002t0001g0257	5	404	0.0124	-135	c.210 others(15): Show c.210+484_210+618del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH5_chr16_66361691_66409784	66380031	TGGTGATG others(128): Show TGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTG ATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGATGGT GGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCAC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	404	0.0025	-135	c.210 others(15): Show c.210+516_210+650del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH5_chr16_66361691_66409784	66380076	CGGTGATG others(128): Show CGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTG ATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGT GGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	404	0.0025	-135	c.210 others(15): Show c.210+574_210+708del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENATAC_chr11_118993138_119020793	118999901	TAAAGTGC others(128): Show TAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTTTTGT ATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAAGTTGGTCACTAAC TCCTGACTTGAGGTGACTCACCCGCCTTGGCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	318	0.0031	-135	c.383 others(15): Show c.383+804_383+938del	CENATAC	ENSG00000186166.9	transcript	ENST00000334418.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CENPVL3_chrX_51612020_51623912	51621569	CTTCTTCT others(128): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	298	0.0034	-135	c.-28 others(11): Show c.-2831_-2697del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2658		chrX	TogoVar
CFAP300_chr11_102042437_102089554	102056480	AAATCTTG others(128): Show AAATCTTGGCAATGTAATGGATAAAAGTGGTATCTTCTGGATTTTATTTT CATTTCTTTCACTGCTCTTGAAATTGAGCATCTTTTCCTAAAGTTTATTG GCTATTTGTGGGGTTTTTTGTTTGTTTGTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	346	0.0029	-135	c.193 others(17): Show c.193-2399_193-2265del	CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding	2/6			chr11	TogoVar
CFAP54_chr12_96484577_96880555	96827127	ATTATATG others(128): Show ATTATATGTGATTATATATAATGTGCAATTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0040 a0040	a0040c0037 a0040c0037	a0040c0037t0001 a0040c0037t0001	a0040c0037t0001g0163 a0040c0037t0001g0163	1	268	0.0037	-135	c.909 others(19): Show c.9097-1867_9097-1733del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(128): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AGTGTGCAGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01192.hp1 others(12): Show HG00280.hp1 HG01081.hp1 HG01192.hp1 HG01928.hp1 HG01993.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp2 NA18522.hp1 NA19030.hp2	a0001 a0004 a0006 others(5): Show a0001 a0004 a0006 a0007 a0011 a0012 a0015 a0061	a0001c0001 a0004c0082 a0006c0010 others(5): Show a0001c0001 a0004c0082 a0006c0010 a0007c0071 a0011c0069 a0012c0097 a0015c0100 a0061c0096	a0001c0001t0001 a0004c0082t0001 a0006c0010t0001 others(5): Show a0001c0001t0001 a0004c0082t0001 a0006c0010t0001 a0007c0071t0001 a0011c0069t0001 a0012c0097t0001 a0015c0100t0001 a0061c0096t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0024 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0082 a0004c0082t0001g0167 a0006c0010t0001g0141 a0006c0010t0001g0144 a0006c0010t0001g0146 a0007c0071t0001g0180 a0011c0069t0001g0261 a0012c0097t0001g0196 a0015c0100t0001g0194 a0061c0096t0001g0252	15	268	0.0560	-135	c.909 others(19): Show c.9097-1840_9097-1706del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827174	ATGTGCAG others(128): Show ATGTGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATA TATAATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAGTGTGCAGTTATATGTGATTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp2 others(16): Show HG00408.hp1 HG00438.hp2 HG00597.hp2 HG01071.hp1 HG01106.hp1 HG02004.hp2 HG02683.hp2 NA18747.hp1 NA18944.hp1 NA18969.hp2 NA18983.hp2 NA18984.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2 NA20300.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0029 a0044 a0047 a0053	a0001c0001 a0001c0047 a0002c0003 others(5): Show a0001c0001 a0001c0047 a0002c0003 a0006c0006 a0029c0035 a0044c0040 a0047c0054 a0053c0050	a0001c0001t0001 a0001c0047t0001 a0002c0003t0001 others(5): Show a0001c0001t0001 a0001c0047t0001 a0002c0003t0001 a0006c0006t0001 a0029c0035t0001 a0044c0040t0001 a0047c0054t0001 a0053c0050t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 others(16): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0258 a0001c0047t0001g0045 a0002c0003t0001g0122 a0002c0003t0001g0131 a0002c0003t0001g0139 a0006c0006t0001g0051 a0006c0006t0001g0059 a0006c0006t0001g0065 a0006c0006t0001g0066 a0029c0035t0001g0076 a0044c0040t0001g0107 a0047c0054t0001g0105 a0053c0050t0001g0079	19	268	0.0709	-135	c.909 others(19): Show c.9097-1813_9097-1679del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827228	ATGTGCAG others(128): Show ATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATA TATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAGTGTGCAGTTATATGTGATTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01358.hp1 others(16): Show HG00544.hp2 HG01123.hp2 HG01358.hp1 HG01975.hp2 HG02148.hp1 HG03540.hp1 NA18747.hp2 NA18954.hp2 NA18966.hp2 NA18970.hp2 NA18984.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19065.hp2 NA19081.hp1 NA19084.hp2 NA19091.hp1 NA21309.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0035 a0055	a0001c0001 a0005c0004 a0005c0015 others(5): Show a0001c0001 a0005c0004 a0005c0015 a0005c0020 a0005c0041 a0007c0077 a0035c0063 a0055c0089	a0001c0001t0001 a0005c0004t0001 a0005c0015t0001 others(5): Show a0001c0001t0001 a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0005c0041t0001 a0007c0077t0001 a0035c0063t0001 a0055c0089t0001	a0001c0001t0001g0080 a0005c0004t0001g0010 a0005c0004t0001g0011 others(16): Show a0001c0001t0001g0080 a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0005c0004t0001g0115 a0005c0004t0001g0116 a0005c0015t0001g0016 a0005c0015t0001g0062 a0005c0015t0001g0102 a0005c0020t0001g0142 a0005c0020t0001g0213 a0005c0041t0001g0057 a0007c0077t0001g0183 a0035c0063t0001g0113 a0055c0089t0001g0150	19	268	0.0709	-135	c.909 others(19): Show c.9097-1536_9097-1402del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHD4_chr12_6565082_6612379	6579042	TGGTGGCT others(128): Show TGGTGGCTCATGCCTGTAATCCCAGCATCTTGGGAGACAGCAGCAGGCAG ATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAACCC CAATCTCTATTAAAAATACAAAAATTAGCTGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00733.hp1 others(54): Show HG00099.hp1 HG00323.hp1 HG00733.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0004t0006 a0001c0013t0002	a0001c0002t0001g0258 a0001c0002t0001g0267 a0001c0002t0002g0004 others(44): Show a0001c0002t0001g0258 a0001c0002t0001g0267 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0016 a0001c0002t0002g0050 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0294 a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0062 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0065 a0001c0004t0002g0066 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0070 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0073 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0004t0002g0076 a0001c0004t0002g0277 a0001c0004t0002g0295 a0001c0004t0006g0039 a0001c0013t0002g0053	57	374	0.1524	-135	c.491 others(17): Show c.4910-260_4910-126del	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	33/39			chr12	TogoVar
CHMP1A_chr16_89639435_89662708	89648670	TGCTTGAG others(128): Show TGCTTGAGGCCAGGAGTTTGAGACCAGAGCGGCCAACATAGACACCCTGT CTCTACATAAAAATGAAAAAAATCAGCTGGGCATGGTGGTGGATGCCTGT GGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGGATC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0162 a0001c0001t0006g0162	1	392	0.0026	-135	c.252 others(15): Show c.252+546_252+680del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648699	CGGCCAAC others(128): Show CGGCCAACATAGACACCCTGTCTCTACATAAAAATGAAAAAAATCAGCTG GGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00642.hp1 others(40): Show HG00099.hp1 HG00323.hp2 HG00642.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01361.hp1 HG01891.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(36): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0008g0018 a0001c0001t0008g0025 a0001c0001t0008g0210	43	392	0.1097	-135	c.252 others(15): Show c.252+517_252+651del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648739	AAATCAGC others(128): Show AAATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCC AACATAGACACCCTGTCTCTACTTAAAAATGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp2 others(76): Show HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18955.hp2 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18988.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19056.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0311 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0003g0079 a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0012g0084 a0001c0001t0012g0085 a0001c0001t0020g0043	79	392	0.2015	-135	c.252 others(15): Show c.252+477_252+611del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHRM5_chr15_33963497_34072458	34059031	AGATTACA others(128): Show AGATTACAGGCACACACCACCATGCCCAGCTAACTTTTGCATTTTTAGTA GAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTC AGGCTATCCACCCGCCTCGGCCTCCCAAAGTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG04184.hp1 others(1): Show HG01884.hp2 HG02896.hp1 HG04184.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0066 a0001c0001t0004g0209 a0001c0001t0010g0047 others(1): Show a0001c0001t0004g0066 a0001c0001t0004g0209 a0001c0001t0010g0047 a0001c0001t0010g0312	4	338	0.0118	-135	c.-75 others(17): Show c.-75-3601_-75-3467del	CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
CLN8_chr8_1758789_1791570	1785527	GCACAGGC others(128): Show GCACAGGCAGCGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGGCACA GGCGGCGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGGCACAGGCGG CGTGGGGTTAGACAGGTACCGGTCAGATTACGGTGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01346.hp2 others(5): Show HG00639.hp2 HG00733.hp2 HG01346.hp2 HG01515.hp1 HG02486.hp2 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0035 a0001c0001t0056 others(1): Show a0001c0001t0013 a0001c0001t0035 a0001c0001t0056 a0001c0001t0058	a0001c0001t0013g0055 a0001c0001t0013g0147 a0001c0001t0013g0155 others(4): Show a0001c0001t0013g0055 a0001c0001t0013g0147 a0001c0001t0013g0155 a0001c0001t0035g0137 a0001c0001t0035g0156 a0001c0001t0056g0162 a0001c0001t0058g0177	8	413	0.0194	-135	c.49 others(11): Show c.4968_*5102del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding	3/3	4968	INFO_REALIGN_3_PRIME	chr8	TogoVar
COX8A_chr11_63969620_63981543	63973946	AGCGTGAG others(128): Show AGCGTGAGCCACTGCGCCCGGCCAATTTTTGTATTTTTCGTAGAGATGGG GTTTCACCATGCTGGCAAGACTGGTCTCAAACTCCTGACCTCAGATGATC TACCGGCCCCGGCCTCCCAAAGTGTTGGGATTACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	-135	c.-73 others(9): Show c.-734_-600del	COX8A	ENSG00000176340.4	transcript	ENST00000314133.4	protein_coding		673		chr11	TogoVar
CPQ_chr8_96640242_97148501	96753501	TTTGTTTA others(128): Show TTTGTTTAAGTTTTCTTCTATCTTGCATCCCTCAAGGTTTTACTTAAGAA ATTTATAGTTTGTAAGTATTATGTATTGACCTTTCCCTCATTACATTTTC TAATTATTGTTAGTATATAGAAAATTGAATCTTGAA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	126	0.0079	-135	c.-34 others(19): Show c.-34-31361_-34-31227del	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CROCC2_chr2_240901336_240998311	240976511	TCTCTGGG others(128): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTTATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(89): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(18): Show a0002 a0003 a0006 a0010 a0011 a0012 a0015 a0016 a0019 a0021 a0022 a0030 a0033 a0041 a0043 a0046 a0048 a0052 a0053 a0057 a0062	a0002c0002 a0002c0011 a0002c0012 others(23): Show a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0002c0068 a0003c0003 a0006c0007 a0006c0046 a0010c0009 a0011c0045 a0012c0013 a0015c0016 a0016c0092 a0019c0015 a0021c0019 a0022c0042 a0030c0053 a0033c0081 a0041c0058 a0043c0059 a0046c0069 a0048c0066 a0052c0072 a0053c0037 a0057c0031 a0062c0095	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(28): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0011c0045t0002 a0012c0013t0001 a0015c0016t0002 a0016c0092t0001 a0019c0015t0001 a0021c0019t0001 a0022c0042t0002 a0030c0053t0001 a0033c0081t0001 a0041c0058t0002 a0043c0059t0002 a0046c0069t0001 a0048c0066t0002 a0052c0072t0002 a0053c0037t0001 a0057c0031t0001 a0062c0095t0002	a0002c0002t0001g0083 a0002c0002t0001g0120 a0002c0002t0001g0131 others(88): Show a0002c0002t0001g0083 a0002c0002t0001g0120 a0002c0002t0001g0131 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0186 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0259 a0002c0002t0002g0268 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0316 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0011t0002g0297 a0002c0011t0002g0334 a0002c0012t0002g0250 a0002c0033t0002g0291 a0002c0068t0001g0078 a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0035 a0003c0003t0001g0037 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0158 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0258 a0003c0003t0002g0265 a0003c0003t0002g0272 a0003c0003t0002g0289 a0006c0007t0001g0094 a0006c0007t0001g0195 a0006c0007t0001g0199 a0006c0007t0001g0208 a0006c0007t0001g0212 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0001g0233 a0006c0007t0003g0209 a0006c0046t0001g0228 a0010c0009t0001g0056 a0010c0009t0001g0076 a0010c0009t0001g0087 a0010c0009t0001g0089 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0001g0213 a0010c0009t0001g0225 a0010c0009t0002g0005 a0010c0009t0005g0001 a0011c0045t0002g0320 a0012c0013t0001g0106 a0012c0013t0001g0124 a0015c0016t0002g0246 a0016c0092t0001g0113 a0019c0015t0001g0014 a0019c0015t0001g0028 a0019c0015t0001g0108 a0021c0019t0001g0220 a0021c0019t0001g0227 a0022c0042t0002g0282 a0030c0053t0001g0071 a0033c0081t0001g0048 a0041c0058t0002g0309 a0043c0059t0002g0295 a0046c0069t0001g0187 a0048c0066t0002g0269 a0052c0072t0002g0239 a0053c0037t0001g0205 a0057c0031t0001g0107 a0062c0095t0002g0298	92	350	0.2629	-135	c.440 others(19): Show c.4402-6325_4402-6191del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977366	TCTCTGGG others(128): Show TCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01070.hp2 others(8): Show HG00099.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG02723.hp1 HG03130.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18968.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0031 a0049	a0002c0002 a0003c0003 a0003c0087 others(3): Show a0002c0002 a0003c0003 a0003c0087 a0005c0005 a0031c0052 a0049c0040	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0087t0002 a0005c0005t0001 a0031c0052t0001 a0049c0040t0001	a0002c0002t0001g0168 a0002c0002t0002g0283 a0002c0002t0002g0318 others(8): Show a0002c0002t0001g0168 a0002c0002t0002g0283 a0002c0002t0002g0318 a0003c0003t0001g0029 a0003c0003t0001g0047 a0003c0087t0002g0346 a0005c0005t0001g0036 a0005c0005t0001g0116 a0005c0005t0001g0117 a0031c0052t0001g0169 a0049c0040t0001g0096	11	350	0.0314	-135	c.440 others(19): Show c.4402-5495_4402-5361del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977620	GCTCATCC others(128): Show GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCA TCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18994.hp2 NA19012.hp1 HG02027.hp1 NA18994.hp2 NA19012.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0002 a0009c0010t0001 a0001c0001t0002 a0009c0010t0001	a0001c0001t0002g0326 a0009c0010t0001g0222 a0009c0010t0001g0230 a0001c0001t0002g0326 a0009c0010t0001g0222 a0009c0010t0001g0230	3	350	0.0086	-135	c.440 others(19): Show c.4402-5245_4402-5111del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977884	GCCCAGGC others(128): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(78): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0002 a0003 a0006 others(16): Show a0002 a0003 a0006 a0010 a0011 a0012 a0015 a0016 a0019 a0021 a0022 a0030 a0033 a0041 a0046 a0048 a0052 a0053 a0057	a0002c0002 a0002c0011 a0002c0012 others(21): Show a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0002c0068 a0003c0003 a0006c0007 a0006c0046 a0010c0009 a0011c0045 a0012c0013 a0015c0016 a0016c0092 a0019c0015 a0021c0019 a0022c0042 a0030c0053 a0033c0081 a0041c0058 a0046c0069 a0048c0066 a0052c0072 a0053c0037 a0057c0031	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(26): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0011c0045t0002 a0012c0013t0001 a0015c0016t0002 a0016c0092t0001 a0019c0015t0001 a0021c0019t0001 a0022c0042t0002 a0030c0053t0001 a0033c0081t0001 a0041c0058t0002 a0046c0069t0001 a0048c0066t0002 a0052c0072t0002 a0053c0037t0001 a0057c0031t0001	a0002c0002t0001g0083 a0002c0002t0001g0131 a0002c0002t0001g0132 others(77): Show a0002c0002t0001g0083 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0260 a0002c0002t0002g0268 a0002c0002t0002g0278 a0002c0002t0002g0316 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0011t0002g0297 a0002c0011t0002g0334 a0002c0012t0002g0250 a0002c0033t0002g0291 a0002c0068t0001g0078 a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0035 a0003c0003t0001g0037 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0158 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0265 a0003c0003t0002g0272 a0003c0003t0002g0289 a0006c0007t0001g0195 a0006c0007t0001g0199 a0006c0007t0001g0208 a0006c0007t0001g0212 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0001g0233 a0006c0007t0003g0209 a0006c0046t0001g0228 a0010c0009t0001g0076 a0010c0009t0001g0087 a0010c0009t0001g0089 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0002g0005 a0010c0009t0005g0001 a0011c0045t0002g0320 a0012c0013t0001g0106 a0012c0013t0001g0124 a0015c0016t0002g0246 a0016c0092t0001g0113 a0019c0015t0001g0014 a0019c0015t0001g0028 a0019c0015t0001g0108 a0021c0019t0001g0220 a0021c0019t0001g0227 a0022c0042t0002g0282 a0030c0053t0001g0071 a0033c0081t0001g0048 a0041c0058t0002g0309 a0046c0069t0001g0187 a0048c0066t0002g0269 a0052c0072t0002g0239 a0053c0037t0001g0205 a0057c0031t0001g0107	81	350	0.2314	-135	c.440 others(19): Show c.4402-4975_4402-4841del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977906	GCTCTGGG others(128): Show GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18994.hp2 NA19012.hp1 HG02027.hp1 NA18994.hp2 NA19012.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0002 a0009c0010t0001 a0001c0001t0002 a0009c0010t0001	a0001c0001t0002g0326 a0009c0010t0001g0222 a0009c0010t0001g0230 a0001c0001t0002g0326 a0009c0010t0001g0222 a0009c0010t0001g0230	3	350	0.0086	-135	c.440 others(19): Show c.4402-4951_4402-4817del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978250	GCTCATCC others(128): Show GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA CCCCTCCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG03486.hp1 HG02965.hp1 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0004g0303 a0001c0001t0004g0319 a0001c0001t0003g0003 a0001c0001t0004g0303 a0001c0001t0004g0319	3	350	0.0086	-135	c.440 others(19): Show c.4402-4591_4402-4457del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978289	TCCCAGGC others(128): Show TCCCAGGCTCACCCCTCCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01358.hp2 others(4): Show HG01074.hp1 HG01168.hp1 HG01358.hp2 HG01884.hp1 HG01943.hp2 NA18970.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0016 others(2): Show a0002 a0003 a0016 a0043 a0059	a0002c0002 a0003c0003 a0016c0061 others(2): Show a0002c0002 a0003c0003 a0016c0061 a0043c0059 a0059c0030	a0002c0002t0002 a0003c0003t0002 a0016c0061t0002 others(2): Show a0002c0002t0002 a0003c0003t0002 a0016c0061t0002 a0043c0059t0002 a0059c0030t0001	a0002c0002t0002g0253 a0002c0002t0002g0259 a0002c0002t0002g0276 others(4): Show a0002c0002t0002g0253 a0002c0002t0002g0259 a0002c0002t0002g0276 a0003c0003t0002g0258 a0016c0061t0002g0307 a0043c0059t0002g0295 a0059c0030t0001g0025	7	350	0.0200	-135	c.440 others(19): Show c.4402-4580_4402-4446del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978632	GGGTAGGA others(128): Show GGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTA GGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGC CTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18998.hp1 NA18967.hp1 NA18998.hp1	a0006 a0021 a0006 a0021	a0006c0007 a0021c0019 a0006c0007 a0021c0019	a0006c0007t0001 a0021c0019t0001 a0006c0007t0001 a0021c0019t0001	a0006c0007t0001g0208 a0021c0019t0001g0220 a0006c0007t0001g0208 a0021c0019t0001g0220	2	350	0.0057	-135	c.440 others(19): Show c.4402-4210_4402-4076del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978694	GCCCAGGC others(128): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00735.hp2 others(3): Show HG00140.hp1 HG00323.hp2 HG00735.hp2 HG01074.hp2 HG01516.hp1 HG01517.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0001 a0002c0012t0002 a0003c0003t0001 a0002c0002t0001 a0002c0012t0002 a0003c0003t0001	a0002c0002t0001g0181 a0002c0012t0002g0292 a0002c0012t0002g0293 others(3): Show a0002c0002t0001g0181 a0002c0012t0002g0292 a0002c0012t0002g0293 a0002c0012t0002g0294 a0002c0012t0002g0338 a0003c0003t0001g0011	6	350	0.0171	-135	c.440 others(19): Show c.4402-4165_4402-4031del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978716	GCTCTGGG others(128): Show GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCT GTGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	350	0.0029	-135	c.440 others(19): Show c.4402-4141_4402-4007del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978739	TCCCAGGC others(128): Show TCCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	350	0.0029	-135	c.440 others(19): Show c.4402-4121_4402-3987del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978761	TCTCTGTG others(128): Show TCTCTGTGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(76): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp2 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(16): Show a0002 a0003 a0006 a0010 a0011 a0012 a0016 a0019 a0021 a0030 a0033 a0041 a0043 a0046 a0048 a0052 a0053 a0057 a0062	a0002c0002 a0002c0011 a0002c0012 others(22): Show a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0002c0068 a0003c0003 a0006c0007 a0006c0046 a0010c0009 a0011c0045 a0012c0013 a0016c0061 a0016c0092 a0019c0015 a0021c0019 a0030c0053 a0033c0081 a0041c0058 a0043c0059 a0046c0069 a0048c0066 a0052c0072 a0053c0037 a0057c0031 a0062c0095	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(27): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0011c0045t0002 a0012c0013t0001 a0016c0061t0002 a0016c0092t0001 a0019c0015t0001 a0021c0019t0001 a0030c0053t0001 a0033c0081t0001 a0041c0058t0002 a0043c0059t0002 a0046c0069t0001 a0048c0066t0002 a0052c0072t0002 a0053c0037t0001 a0057c0031t0001 a0062c0095t0002	a0002c0002t0001g0083 a0002c0002t0001g0120 a0002c0002t0001g0132 others(75): Show a0002c0002t0001g0083 a0002c0002t0001g0120 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0186 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0260 a0002c0002t0002g0268 a0002c0002t0002g0278 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0011t0002g0297 a0002c0011t0002g0334 a0002c0012t0002g0250 a0002c0033t0002g0291 a0002c0068t0001g0078 a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0035 a0003c0003t0001g0037 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0158 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0258 a0003c0003t0002g0265 a0003c0003t0002g0272 a0003c0003t0002g0289 a0006c0007t0001g0195 a0006c0007t0001g0199 a0006c0007t0001g0212 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0001g0233 a0006c0007t0003g0209 a0006c0046t0001g0228 a0010c0009t0001g0076 a0010c0009t0001g0087 a0010c0009t0001g0089 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0002g0005 a0010c0009t0005g0001 a0011c0045t0002g0320 a0012c0013t0001g0106 a0016c0061t0002g0307 a0016c0092t0001g0113 a0019c0015t0001g0014 a0019c0015t0001g0028 a0019c0015t0001g0108 a0021c0019t0001g0227 a0030c0053t0001g0071 a0033c0081t0001g0048 a0041c0058t0002g0309 a0043c0059t0002g0295 a0046c0069t0001g0187 a0048c0066t0002g0269 a0052c0072t0002g0239 a0053c0037t0001g0205 a0057c0031t0001g0107 a0062c0095t0002g0298	79	350	0.2257	-135	c.440 others(19): Show c.4402-4113_4402-3979del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979165	GTCTCTGG others(128): Show GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0024 a0024	a0024c0077 a0024c0077	a0024c0077t0001 a0024c0077t0001	a0024c0077t0001g0111 a0024c0077t0001g0111	1	350	0.0029	-135	c.440 others(19): Show c.4402-3714_4402-3580del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979166	TCTCTGGG others(128): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0213 a0010c0009t0001g0213	1	350	0.0029	-135	c.440 others(19): Show c.4402-3691_4402-3557del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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