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
CNTRL_chr9_121069955_121182610	121092630	ATATATAT others(105): Show ATATATATAATATATATCTATATATAATATATATCTATATATATAATATA TATCTATATATATAATATATATCTATATATATAATATATATCTATATATA TATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(37): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG02015.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02647.hp2 HG02896.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18950.hp2 NA18956.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0014 others(3): Show a0001 a0002 a0014 a0022 a0024 a0026	a0001c0001 a0002c0006 a0014c0028 others(3): Show a0001c0001 a0002c0006 a0014c0028 a0022c0021 a0024c0029 a0026c0024	a0001c0001t0001 a0002c0006t0001 a0014c0028t0001 others(3): Show a0001c0001t0001 a0002c0006t0001 a0014c0028t0001 a0022c0021t0001 a0024c0029t0001 a0026c0024t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0191 others(36): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0231 a0002c0006t0001g0032 a0002c0006t0001g0033 a0002c0006t0001g0034 a0002c0006t0001g0037 a0002c0006t0001g0038 a0002c0006t0001g0147 a0014c0028t0001g0208 a0022c0021t0001g0036 a0024c0029t0001g0220 a0026c0024t0001g0035	40	328	0.1220	-112	c.349 others(17): Show c.349-2232_349-2121del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL9A3_chr20_62812050_62846159	62824023	ACTGTGTG others(105): Show ACTGTGTGGAGTGGCCTCCTGGGGTCCTGTCACCCAGAGTGTCCCGACAC CCGCGCGGAGTGGCCTCCTGGGGCCCCGTCACCCACGCGGAGTGGCCTCC TGGGGTCCCGTCT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02257.hp1 others(19): Show HG01106.hp1 HG01884.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0018	a0001c0001 a0001c0010 a0002c0006 others(4): Show a0001c0001 a0001c0010 a0002c0006 a0003c0007 a0003c0021 a0009c0049 a0018c0052	a0001c0001t0001 a0001c0010t0002 a0002c0006t0006 others(7): Show a0001c0001t0001 a0001c0010t0002 a0002c0006t0006 a0003c0007t0001 a0003c0007t0005 a0003c0021t0002 a0003c0021t0003 a0003c0021t0004 a0009c0049t0001 a0018c0052t0005	a0001c0001t0001g0172 a0001c0010t0002g0041 a0001c0010t0002g0067 others(18): Show a0001c0001t0001g0172 a0001c0010t0002g0041 a0001c0010t0002g0067 a0002c0006t0006g0332 a0003c0007t0001g0017 a0003c0007t0001g0081 a0003c0007t0001g0082 a0003c0007t0001g0083 a0003c0007t0001g0084 a0003c0007t0001g0085 a0003c0007t0001g0087 a0003c0007t0001g0088 a0003c0007t0001g0094 a0003c0007t0001g0095 a0003c0007t0005g0062 a0003c0007t0005g0157 a0003c0021t0002g0096 a0003c0021t0003g0079 a0003c0021t0004g0097 a0009c0049t0001g0080 a0018c0052t0005g0086	22	410	0.0537	-112	c.520 others(15): Show c.520-354_520-243del	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CPXM2_chr10_123740639_123896807	123873161	CAAATAAT others(105): Show CAAATAATATGTGATTAACAAGAGTTTAGCAAGATTGCTGAATATAAAAA TCAACATTCAAAAATTAACTATACACCTGTAGTCTACCAATAAAGAGTAG AAAATTGAAATTA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01192.hp2 others(17): Show HG00597.hp2 HG00741.hp2 HG01192.hp2 HG01516.hp1 HG01934.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02738.hp1 HG03139.hp2 HG03209.hp1 NA18747.hp2 NA18943.hp2 NA18967.hp1 NA18967.hp2 NA18972.hp2 NA18987.hp1 NA18995.hp1 NA19066.hp2 NA19085.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0025 a0001c0032 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0004t0001 a0001c0005t0009 a0001c0011t0002 a0001c0025t0001 a0001c0032t0001 a0005c0012t0001	a0001c0001t0001g0135 a0001c0001t0001g0219 a0001c0001t0001g0228 others(17): Show a0001c0001t0001g0135 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0002t0003g0221 a0001c0002t0006g0237 a0001c0003t0001g0122 a0001c0003t0001g0220 a0001c0003t0001g0222 a0001c0004t0001g0189 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0005t0009g0230 a0001c0011t0002g0231 a0001c0025t0001g0094 a0001c0032t0001g0225 a0005c0012t0001g0120	20	286	0.0699	-112	c.403 others(17): Show c.403+6938_403+7049del	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	2/13			chr10	TogoVar
CSMD1_chr8_2930361_4999914	3838671	AATATTAT others(105): Show AATATTATATAGTATAATATATAATAAATATTATATAGTATAATATATAA TAAATTAATATTATATAGTATAATATATAATAAATATTATATAGTATAAT ATATAATAAATTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02559.hp2 HG02886.hp2 others(1): Show HG01123.hp1 HG02559.hp2 HG02886.hp2 NA18522.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0043 a0002c0072 a0002c0078 others(1): Show a0001c0043 a0002c0072 a0002c0078 a0006c0008	a0001c0043t0031 a0002c0072t0003 a0002c0078t0044 others(1): Show a0001c0043t0031 a0002c0072t0003 a0002c0078t0044 a0006c0008t0082	a0001c0043t0031g0044 a0002c0072t0003g0066 a0002c0078t0044g0064 others(1): Show a0001c0043t0031g0044 a0002c0072t0003g0066 a0002c0078t0044g0064 a0006c0008t0082g0126	4	126	0.0317	-112	c.819 others(19): Show c.819-84741_819-84630del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CTDP1_chr18_79674803_79759503	79745259	CCCTGCGT others(105): Show CCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCG TTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp1 others(50): Show HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01070.hp2 HG01099.hp1 HG01192.hp2 HG01943.hp1 HG01975.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18960.hp1 NA18972.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19087.hp2 NA19089.hp1 NA20129.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0009 a0010	a0001c0001 a0002c0002 a0006c0010 others(3): Show a0001c0001 a0002c0002 a0006c0010 a0007c0019 a0009c0038 a0010c0039	a0001c0001t0002 a0002c0002t0001 a0006c0010t0001 others(3): Show a0001c0001t0002 a0002c0002t0001 a0006c0010t0001 a0007c0019t0001 a0009c0038t0001 a0010c0039t0001	a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 others(48): Show a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0216 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0006c0010t0001g0253 a0006c0010t0001g0256 a0006c0010t0001g0262 a0006c0010t0001g0263 a0007c0019t0001g0295 a0007c0019t0001g0296 a0009c0038t0001g0281 a0010c0039t0001g0244	53	370	0.1432	-112	c.274 others(19): Show c.2748-8390_2748-8279del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745262	TGCGTCCC others(105): Show TGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTC TGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGC GCGTTCTGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0020 a0001c0017t0003g0020	1	339	0.0029	-112	c.274 others(19): Show c.2748-8362_2748-8251del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745539	CCCCGCGT others(105): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02615.hp2 NA20300.hp2 HG01255.hp2 HG02615.hp2 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0018 a0011c0032 a0001c0018 a0011c0032	a0001c0018t0001 a0011c0032t0001 a0001c0018t0001 a0011c0032t0001	a0001c0018t0001g0089 a0001c0018t0001g0090 a0011c0032t0001g0088 a0001c0018t0001g0089 a0001c0018t0001g0090 a0011c0032t0001g0088	3	315	0.0095	-112	c.274 others(19): Show c.2748-8085_2748-7974del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745903	CCCCGCGT others(105): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19084.hp2 NA18945.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0250 a0002c0002t0001g0243 a0002c0002t0001g0250	2	176	0.0114	-112	c.274 others(19): Show c.2748-7665_2748-7554del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746186	CGCGTCCC others(105): Show CGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTC TGACCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGC GCGTTCTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	241	0.0041	-112	c.274 others(19): Show c.2748-7449_2748-7338del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA2_chr2_79508051_80653780	80075586	ATGTATAA others(105): Show ATGTATAAATATAAATATTTATACATGTATAAATATAAATATTTATACAT GTATAAATATTATAAAAATAATATTTATACATGTATAAATATTATAAAAA TAATATTTATACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02622.hp1 HG02886.hp2 others(5): Show HG00642.hp1 HG02622.hp1 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0010 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0010t0001 a0002c0006t0001	a0001c0001t0001g0067 a0001c0002t0001g0007 a0001c0002t0001g0023 others(5): Show a0001c0001t0001g0067 a0001c0002t0001g0007 a0001c0002t0001g0023 a0001c0005t0002g0043 a0001c0009t0001g0003 a0001c0010t0001g0024 a0002c0006t0001g0020 a0002c0006t0001g0060	8	68	0.1176	-112	c.105 others(23): Show c.1056+165801_1056+165912del	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYTH3_chr7_6156779_6277624	6185315	TGGCTCAT others(105): Show TGGCTCATGCCTGTAATCCCAGCACTTTTGGGAGGCTGAGGTGGGCAGAT CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTGG GCCGGGTGCACTG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0347 a0001c0001t0006g0347	1	346	0.0029	-112	c.249 others(17): Show c.249+1623_249+1734del	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	4/12			chr7	TogoVar
DEFB1_chr8_6865592_6882936	6882751	AGATGGAA others(105): Show AGATGGAAGGAGCTGGATTTCTGGTCCTGGATGGAAGGAGCTGGATTTCT GACCCTGGATGGAAGGCGCTGGATTTCTGACCCTGGATGGAAGGCGCTGG ATTTCTGGCCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(116): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18982.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0004t0007 a0002c0002t0005 a0005c0009t0010	a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0076 others(41): Show a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0038 a0001c0001t0003g0060 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0051 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0001t0005g0072 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0010g0061 a0001c0004t0007g0042 a0001c0004t0007g0078 a0001c0004t0007g0079 a0002c0002t0005g0009 a0002c0002t0005g0017 a0005c0009t0010g0063	119	476	0.2500	-112	c.-50 others(11): Show c.-5006_-4895del	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding		4816		chr8	TogoVar
DHRS12_chr13_51762993_51809163	51775505	TCTACAGT others(105): Show TCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTC CTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp2 HG02055.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0021 a0002c0002t0003g0207 a0002c0002t0003g0021 a0002c0002t0003g0207	2	415	0.0048	-112	c.363 others(17): Show c.363+1443_364-1472del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	455273	ATGAGGAG others(105): Show ATGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGG GGAGACCGTGAGGAATAAATGAGATGAAAACACTGCAGTGAGTCCCTGCC TGAGGGGAGACCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03453.hp1 HG02602.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0003g0040 a0001c0001t0001g0010 a0001c0001t0003g0040	2	88	0.0227	-112	c.269 others(19): Show c.269-14389_269-14278del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13453390	ATATATAT others(105): Show ATATATATATATGTGTATATATATATATATATATGTGTATATATATATGT ATATATATACATATATATATGTATATATATACATATATATGTATATATAT ACATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03490.hp1 NA18983.hp1 HG03209.hp1 HG03490.hp1 NA18983.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0011 a0002c0021 a0004c0005 a0001c0011 a0002c0021 a0004c0005	a0001c0011t0003 a0002c0021t0018 a0004c0005t0002 a0001c0011t0003 a0002c0021t0018 a0004c0005t0002	a0001c0011t0003g0008 a0002c0021t0018g0012 a0004c0005t0002g0169 a0001c0011t0003g0008 a0002c0021t0018g0012 a0004c0005t0002g0169	3	209	0.0144	-112	c.102 others(21): Show c.1023+45547_1023+45658del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103430	TTTGGTTA others(105): Show TTTGGTTAACGGTGATGACTGGCGGGGCCTTGGTTAACGTTGATGACTGG CGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGAT GACTGGCGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02258.hp2 HG01891.hp1 HG01891.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0014 a0001c0003t0024 a0001c0003t0006 a0001c0003t0014 a0001c0003t0024	a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0024g0003	3	11	0.2727	-112	c.74- others(19): Show c.74-155414_74-155303del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1103469	TTGATGAC others(105): Show TTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGGCCTTGG TTGACGGTGATGACTGGCGGGGCCTTGGTTGACGGTGATGACTGGCGGGG CCTTGGTTGACGG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02698.hp1 HG01071.hp1 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0003 a0001c0003t0001 a0002c0001t0003	a0001c0003t0001g0025 a0002c0001t0003g0017 a0001c0003t0001g0025 a0002c0001t0003g0017	2	21	0.0952	-112	c.74- others(19): Show c.74-155146_74-155035del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1109974	TACGGGTC others(105): Show TACGGGTCTGTGAGGTGTGCATGGGTCTGTGACATGTGCTGGGTCTGTGA GGTGTGCACGTGCCTATGAAGTGTGCTGGGTCTGTGATGTGTGCACAGGT CTGTGAGGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-112	c.74- others(19): Show c.74-148845_74-148734del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1626394	TGTTCCCA others(105): Show TGTTCCCATCTCTACCCTGCAGCGGGTGCTCACCCTCTGGGTGTGGGTTG GACGGCTGTTCCCATCTGTACCCTGTGGTGGGTGCTCAGCCTCTGGGTGT GGGTTGGACGGTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	30	0.0333	-112	c.144 others(17): Show c.1443-323_1443-212del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC5_chr20_63890126_63941011	63919734	CGGAAGAG others(105): Show CGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCCCGGGACA GCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCCAGGGCCC GGGACAGCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-112	c.-11 others(17): Show c.-11-8489_-11-8378del	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNASE1_chr16_3649691_3663095	3656330	AGGTCCCG others(105): Show AGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTG TCGCCTGGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCC CTCCTGTCGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG03516.hp2 others(5): Show HG02717.hp1 HG02886.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA18948.hp2 NA18952.hp1 NA19064.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0010 a0002c0002 a0013c0010	a0002c0002t0001 a0013c0010t0001 a0002c0002t0001 a0013c0010t0001	a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0031 others(1): Show a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0031 a0013c0010t0001g0030	8	156	0.0513	-112	c.321 others(14): Show c.321-193_321-82del	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DSCAML1_chr11_117422772_117802216	117769266	ATATATTT others(105): Show ATATATTTATATATTATATATTTTATATATTTATATATATTTTTATATAA TATATATTTTATATATATAATATATATTTTATATATATTATATATTTTAT ATAATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(91): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18994.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0007 a0001c0008 others(38): Show a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0025 a0001c0027 a0001c0029 a0001c0030 a0001c0037 a0001c0046 a0001c0052 a0001c0055 a0001c0056 a0002c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0010 a0002c0019 a0002c0032 a0002c0033 a0002c0034 a0002c0059 a0002c0060 a0002c0067 a0002c0069 a0003c0038 a0003c0040 a0003c0041 a0003c0044 a0004c0068 a0005c0031	a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 others(52): Show a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0009t0002 a0001c0011t0002 a0001c0012t0001 a0001c0012t0002 a0001c0013t0001 a0001c0013t0002 a0001c0014t0001 a0001c0014t0002 a0001c0017t0001 a0001c0018t0001 a0001c0018t0002 a0001c0022t0001 a0001c0022t0002 a0001c0023t0001 a0001c0025t0001 a0001c0027t0001 a0001c0029t0002 a0001c0030t0002 a0001c0037t0001 a0001c0046t0001 a0001c0052t0001 a0001c0055t0001 a0001c0056t0001 a0002c0001t0001 a0002c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0002c0006t0002 a0002c0010t0001 a0002c0010t0005 a0002c0019t0001 a0002c0019t0002 a0002c0032t0001 a0002c0033t0001 a0002c0034t0002 a0002c0059t0002 a0002c0060t0002 a0002c0067t0001 a0002c0069t0002 a0003c0038t0002 a0003c0040t0002 a0003c0041t0001 a0003c0044t0002 a0004c0068t0001 a0005c0031t0002	a0001c0005t0001g0046 a0001c0005t0001g0077 a0001c0005t0001g0087 others(91): Show a0001c0005t0001g0046 a0001c0005t0001g0077 a0001c0005t0001g0087 a0001c0005t0001g0104 a0001c0005t0001g0190 a0001c0005t0002g0024 a0001c0005t0002g0079 a0001c0005t0002g0144 a0001c0007t0001g0136 a0001c0007t0001g0158 a0001c0007t0002g0140 a0001c0008t0001g0097 a0001c0008t0001g0114 a0001c0008t0001g0165 a0001c0009t0002g0019 a0001c0011t0002g0175 a0001c0012t0001g0043 a0001c0012t0001g0103 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0013t0001g0110 a0001c0013t0001g0181 a0001c0013t0002g0177 a0001c0014t0001g0071 a0001c0014t0001g0132 a0001c0014t0001g0178 a0001c0014t0002g0091 a0001c0014t0002g0143 a0001c0017t0001g0054 a0001c0017t0001g0142 a0001c0018t0001g0106 a0001c0018t0002g0134 a0001c0022t0001g0135 a0001c0022t0002g0174 a0001c0023t0001g0032 a0001c0025t0001g0192 a0001c0027t0001g0012 a0001c0027t0001g0122 a0001c0029t0002g0029 a0001c0029t0002g0095 a0001c0030t0002g0133 a0001c0037t0001g0124 a0001c0046t0001g0131 a0001c0052t0001g0123 a0001c0055t0001g0102 a0001c0056t0001g0075 a0002c0001t0001g0042 a0002c0001t0001g0072 a0002c0001t0001g0083 a0002c0001t0001g0119 a0002c0001t0001g0126 a0002c0001t0001g0179 a0002c0001t0001g0188 a0002c0001t0002g0039 a0002c0001t0002g0078 a0002c0001t0002g0176 a0002c0002t0001g0015 a0002c0002t0001g0182 a0002c0002t0001g0194 a0002c0002t0002g0020 a0002c0002t0002g0185 a0002c0003t0001g0034 a0002c0003t0001g0086 a0002c0003t0001g0108 a0002c0003t0001g0129 a0002c0003t0002g0074 a0002c0003t0002g0084 a0002c0003t0002g0130 a0002c0003t0002g0169 a0002c0003t0002g0191 a0002c0004t0001g0037 a0002c0004t0002g0088 a0002c0004t0002g0168 a0002c0006t0001g0189 a0002c0006t0002g0098 a0002c0006t0002g0149 a0002c0006t0002g0150 a0002c0010t0001g0164 a0002c0010t0005g0016 a0002c0019t0001g0120 a0002c0019t0002g0148 a0002c0032t0001g0033 a0002c0033t0001g0059 a0002c0034t0002g0171 a0002c0059t0002g0040 a0002c0060t0002g0193 a0002c0067t0001g0109 a0002c0069t0002g0186 a0003c0038t0002g0128 a0003c0040t0002g0014 a0003c0041t0001g0105 a0003c0044t0002g0030 a0004c0068t0001g0146 a0005c0031t0002g0045	94	194	0.4845	-112	c.511 others(17): Show c.511+7413_511+7524del	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
ELL2_chr5_95880098_95966851	95927401	ACACACAC others(105): Show ACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACAT ACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACAT ACACACACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02965.hp2 others(2): Show HG02280.hp2 HG02647.hp2 HG02965.hp2 HG03579.hp2 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0117 a0002c0002t0001g0123 others(2): Show a0002c0002t0001g0027 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0132 a0002c0002t0001g0268	5	302	0.0166	-112	c.196 others(17): Show c.196-7968_196-7857del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ERC1_chr12_986223_1500931	1090272	GAAAGTGC others(105): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	160	0.0063	-112	c.108 others(19): Show c.1086+6693_1086+6804del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1090662	GAAAGTGC others(105): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTGTGCC TGGCCCATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0082 a0002c0002t0036g0082	1	160	0.0063	-112	c.108 others(19): Show c.1086+7083_1086+7194del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1121725	CTCTATCT others(105): Show CTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTAT CTCTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0012 a0009c0009t0012	a0009c0009t0012g0110 a0009c0009t0012g0110	1	151	0.0066	-112	c.156 others(19): Show c.1569+5712_1569+5823del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	676116	TGAGGACA others(105): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	343	0.0029	-112	c.305 others(17): Show c.305-2181_305-2070del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696288	CCTTCACT others(105): Show CCTTCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACC CTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCACCCTC CACTCTTCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	263	0.0038	-112	c.170 others(17): Show c.170-3788_170-3677del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESPNL_chr2_238095340_238138287	238110303	TCCCATTT others(105): Show TCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGA TCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTTTCTGTCCCAGGA TATATCCACACCG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00639.hp2 others(53): Show HG00323.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02040.hp1 HG02071.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03491.hp1 HG03688.hp2 HG03831.hp1 HG06807.hp2 NA18947.hp2 NA18953.hp2 NA18977.hp1 NA18980.hp1 NA18985.hp2 NA18990.hp1 NA18997.hp1 NA19005.hp1 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19085.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013 a0020 a0022 a0028	a0001c0033 a0001c0042 a0002c0020 others(14): Show a0001c0033 a0001c0042 a0002c0020 a0002c0058 a0003c0021 a0003c0036 a0003c0041 a0004c0003 a0004c0037 a0004c0060 a0005c0014 a0006c0061 a0011c0063 a0013c0064 a0020c0062 a0022c0130 a0028c0059	a0001c0033t0004 a0001c0042t0003 a0001c0042t0006 others(15): Show a0001c0033t0004 a0001c0042t0003 a0001c0042t0006 a0002c0020t0002 a0002c0058t0005 a0003c0021t0001 a0003c0036t0006 a0003c0041t0006 a0004c0003t0005 a0004c0037t0005 a0004c0060t0005 a0005c0014t0001 a0006c0061t0003 a0011c0063t0004 a0013c0064t0001 a0020c0062t0005 a0022c0130t0002 a0028c0059t0005	a0001c0033t0004g0304 a0001c0033t0004g0315 a0001c0033t0004g0328 others(51): Show a0001c0033t0004g0304 a0001c0033t0004g0315 a0001c0033t0004g0328 a0001c0042t0003g0284 a0001c0042t0006g0314 a0002c0020t0002g0036 a0002c0020t0002g0280 a0002c0020t0002g0302 a0002c0020t0002g0308 a0002c0020t0002g0310 a0002c0058t0005g0319 a0003c0021t0001g0278 a0003c0021t0001g0285 a0003c0021t0001g0293 a0003c0021t0001g0295 a0003c0021t0001g0317 a0003c0021t0001g0329 a0003c0036t0006g0035 a0003c0036t0006g0253 a0003c0041t0006g0290 a0003c0041t0006g0298 a0004c0003t0005g0279 a0004c0003t0005g0281 a0004c0003t0005g0287 a0004c0003t0005g0288 a0004c0003t0005g0291 a0004c0003t0005g0292 a0004c0003t0005g0296 a0004c0003t0005g0300 a0004c0003t0005g0301 a0004c0003t0005g0306 a0004c0003t0005g0307 a0004c0003t0005g0309 a0004c0003t0005g0313 a0004c0003t0005g0318 a0004c0003t0005g0321 a0004c0003t0005g0322 a0004c0003t0005g0324 a0004c0003t0005g0330 a0004c0037t0005g0232 a0004c0060t0005g0286 a0005c0014t0001g0282 a0005c0014t0001g0289 a0005c0014t0001g0299 a0005c0014t0001g0303 a0005c0014t0001g0305 a0005c0014t0001g0323 a0005c0014t0001g0325 a0006c0061t0003g0294 a0011c0063t0004g0320 a0013c0064t0001g0297 a0020c0062t0005g0311 a0022c0130t0002g0316 a0028c0059t0005g0312	56	406	0.1379	-112	c.855 others(17): Show c.855+2341_855+2452del	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118351	GATGGAGG others(105): Show GATGGAGGAGGAATGGATGGAGGAGGTGGATGGAGAAGGGTGGATGGAAG AGGGTGGACGGAGGAGGGTGGATGGAGGAGGAATGGATGGAAGAGGTGGA TGGAGGAGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01081.hp1 HG02559.hp1 others(3): Show HG00558.hp2 HG01081.hp1 HG02559.hp1 NA18949.hp1 NA19058.hp2 NA19240.hp2	a0001 a0003 a0015 others(2): Show a0001 a0003 a0015 a0038 a0044	a0001c0018 a0003c0024 a0015c0120 others(3): Show a0001c0018 a0003c0024 a0015c0120 a0015c0131 a0038c0099 a0044c0094	a0001c0018t0003 a0003c0024t0001 a0015c0120t0003 others(3): Show a0001c0018t0003 a0003c0024t0001 a0015c0120t0003 a0015c0131t0003 a0038c0099t0003 a0044c0094t0003	a0001c0018t0003g0230 a0003c0024t0001g0227 a0015c0120t0003g0161 others(3): Show a0001c0018t0003g0230 a0003c0024t0001g0227 a0015c0120t0003g0161 a0015c0131t0003g0162 a0038c0099t0003g0257 a0044c0094t0003g0163	6	406	0.0148	-112	c.987 others(17): Show c.987+1328_987+1439del	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXD3_chr9_137301896_137428162	137382015	ACGCGGGG others(105): Show ACGCGGGGAGGAGGTGAGGGCGCGGGGAGGAGGTGAGGGCGCGCGGAGGA GGTGAGGGCGCGCGGTGGAGGTCAGGGCGGCGGTGGAGGTCAGGGCGGCG GTGGAGGTGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	78	0.0128	-112	c.120 others(17): Show c.120+1186_120+1297del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXOC2_chr6_480154_698139	676567	ACTCTGCG others(105): Show ACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTC TGGTGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGATAGGT TCCTCTGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(134): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0002c0005 a0006c0012 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0016 a0001c0003t0017 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0007t0002 a0001c0010t0002 a0001c0011t0008 a0001c0015t0003 a0001c0017t0005 a0002c0005t0002 a0006c0012t0001 a0007c0023t0002	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(134): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0104 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0074 a0001c0001t0003g0084 a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0004g0011 a0001c0001t0004g0050 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0101 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0075 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0091 a0001c0001t0006g0033 a0001c0001t0006g0093 a0001c0001t0006g0115 a0001c0001t0006g0129 a0001c0001t0007g0150 a0001c0001t0009g0103 a0001c0001t0009g0112 a0001c0001t0015g0019 a0001c0001t0018g0083 a0001c0001t0019g0090 a0001c0001t0026g0269 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0099 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0031 a0001c0002t0002g0041 a0001c0002t0002g0060 a0001c0002t0002g0071 a0001c0002t0002g0118 a0001c0002t0003g0054 a0001c0002t0004g0009 a0001c0002t0004g0018 a0001c0002t0004g0022 a0001c0002t0004g0070 a0001c0002t0005g0023 a0001c0002t0006g0132 a0001c0002t0010g0035 a0001c0002t0010g0053 a0001c0002t0012g0055 a0001c0002t0012g0056 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0003t0001g0062 a0001c0003t0002g0020 a0001c0003t0002g0063 a0001c0003t0002g0155 a0001c0003t0007g0157 a0001c0003t0016g0029 a0001c0003t0017g0193 a0001c0004t0002g0156 a0001c0004t0003g0116 a0001c0004t0004g0006 a0001c0007t0002g0123 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0011t0008g0154 a0001c0015t0003g0048 a0001c0017t0005g0082 a0002c0005t0002g0097 a0006c0012t0001g0094 a0007c0023t0002g0046	137	211	0.6493	-112	c.-44 others(19): Show c.-44+16340_-44+16451del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
FAM161A_chr2_61819848_61859060	61848957	TATATTTA others(105): Show TATATTTATATATATATATATTTATATATTTATATATATTTATATATATA TTTATATATTTATATATATTTATATATATATTTATATATTTATATATATT TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	398	0.0025	-112	c.183 others(17): Show c.183+4790_183+4901del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM9B_chrX_9019232_9039127	9021766	TATTATGT others(105): Show TATTATGTATAATATATAATATATATTACATTATGTATAATATATAATAT ATATTACATTATGTATAATATATAATATATATTACATTATGTATAATATA TAATATATATTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02523.hp2 others(1): Show HG02055.hp1 HG02280.hp1 HG02523.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0033	4	156	0.0256	-112	c.35 others(11): Show c.3531_*3642del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2465		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022071	TTACATTA others(105): Show TTACATTATGTATAATATATAATATATATTACATTATGTATAATATATAA TATATATTACATTATGTATAATATATAATATATATTATATTATGTATAAT ATATAATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	253	0.0040	-112	c.32 others(11): Show c.3226_*3337del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2160		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022101	ACATTATG others(105): Show ACATTATGTATAATATATAATATATATTACATTATGTATAATATATAATA TATATTATATTATGTATAATATATAATATATAATATATATTATGTATAAT ATATAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 NA18953.hp1 HG01167.hp1 HG01169.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0034	3	255	0.0118	-112	c.31 others(11): Show c.3196_*3307del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2130		chrX	TogoVar
FCHO2_chr5_72951041_73095522	73016395	TGTTTAAA others(105): Show TGTTTAAATATTAAAAAAGATTTTAAATTGTTTAAATATTAAAAAAGATT TTAAATTGTTTAAATATTAAAAAAGATTTTAAATTGTTTAAATATTAAAA AAGATTTTAAATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02630.hp1 HG02280.hp2 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0011 a0001c0003t0005 a0001c0003t0011	a0001c0003t0005g0233 a0001c0003t0005g0234 a0001c0003t0011g0231 a0001c0003t0005g0233 a0001c0003t0005g0234 a0001c0003t0011g0231	3	284	0.0106	-112	c.700 others(15): Show c.700-705_700-594del	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FCHO2_chr5_72951041_73095522	73093456	TGCAGTGA others(105): Show TGCAGTGAGCCGAGATCGCACCACTGCATTCCAGCCTGGGTGACAGAGTG AGGAAAAAAAAAAAAAAAGCATACATCTAGAGCAAAACTTTTTGCAAAAG CATTCACCAAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	284	0.0035	-112	c.53 others(11): Show c.5367_*5478del	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding		2935		chr5	TogoVar
FMN1_chr15_32760544_33199714	32949942	TATATATA others(105): Show TATATATATATATATATATATATACACACATATATATACACACACATATA TATACACATACACATATATATATACACATATATATATATATACACATATA TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0004 a0008c0021t0004	a0008c0021t0004g0113 a0008c0021t0004g0113	1	193	0.0052	-112	c.313 others(21): Show c.3138+14053_3138+14164del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FOLR1_chr11_72187140_72201299	72201186	ATACACGT others(105): Show ATACACGTATACGTATGTACACGTATACACGTATACGTATGTACACGTAT ACACGTATACGTATGTACACGTATACACGTATACGTATGTACACGTATAC ACGTATACGTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19085.hp1 NA19010.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	328	0.0061	-112	c.50 others(11): Show c.5010_*5121del	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4888		chr11	TogoVar
FOXN3_chr14_89151177_89422233	89361344	TCCAGCAC others(105): Show TCCAGCACCACCTCCACCACCACCTCCAGCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCTCCTACCACT ACCACCTCCAGCA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	191	0.0052	-112	c.544 others(19): Show c.544-10648_544-10537del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241806420	TCCCTCCC others(105): Show TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	312	0.0032	-112	c.22 others(11): Show c.2255_*2366del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2134		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132303523	ACCCGGGC others(105): Show ACCCGGGCACAGCCTCACCCGGGCACACCCTCACCCAGACACAGCCTCGC CCGGGCACACCCTCGCCCGGGCACACCCTCGCCCGGACACACCCTCACCC GGGCACAGAATCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG02080.hp1 others(17): Show HG00423.hp1 HG00639.hp2 HG02080.hp1 HG02080.hp2 HG02895.hp1 NA18747.hp2 NA18945.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA19007.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 others(4): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0018 a0001c0035	a0001c0003t0001 a0001c0004t0001 a0001c0008t0002 others(4): Show a0001c0003t0001 a0001c0004t0001 a0001c0008t0002 a0001c0009t0002 a0001c0012t0002 a0001c0018t0001 a0001c0035t0009	a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0056 others(17): Show a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0056 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0176 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0012t0002g0179 a0001c0012t0002g0183 a0001c0018t0001g0039 a0001c0035t0009g0140	20	126	0.1587	-112	c.239 others(19): Show c.239-17205_239-17094del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304835	GCCCGGGC others(105): Show GCCCGGGCACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCAC CGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCC AGACACGCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01106.hp1 others(26): Show HG00423.hp1 HG00639.hp2 HG01106.hp1 HG01167.hp1 HG02080.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03579.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA19007.hp2 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0018 a0001c0035 a0001c0036	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0012t0002 a0001c0014t0003 a0001c0018t0001 a0001c0035t0009 a0001c0036t0003	a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 others(26): Show a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0150 a0001c0002t0001g0053 a0001c0002t0001g0081 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0056 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0007t0001g0061 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0012t0002g0179 a0001c0012t0002g0183 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0018t0001g0039 a0001c0035t0009g0140 a0001c0036t0003g0055	29	178	0.1629	-112	c.239 others(19): Show c.239-18517_239-18406del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GATA5_chr20_62458497_62480995	62476924	TCTTTCTT others(105): Show TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTC TCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTT TCTTTCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0262 a0001c0004t0005g0262	1	379	0.0026	-112	c.-11 others(11): Show c.-1128_-1017del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		930		chr20	TogoVar
GHR_chr5_42418439_42726878	42564080	TATTTATT others(105): Show TATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATCTCACAAA GTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATCT CACAATGTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG01952.hp1 others(8): Show HG00733.hp2 HG01192.hp2 HG01952.hp1 HG02602.hp1 HG02818.hp2 HG02886.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0004c0007t0017	a0001c0001t0002g0173 a0001c0001t0004g0061 a0001c0001t0004g0062 others(8): Show a0001c0001t0002g0173 a0001c0001t0004g0061 a0001c0001t0004g0062 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0059 a0002c0002t0001g0172 a0002c0002t0001g0186 a0004c0007t0017g0136	11	201	0.0547	-112	c.-11 others(17): Show c.-11-1679_-11-1568del	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564213	AGTGTGAG others(105): Show AGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATC TCACAAAGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTT GAAATCTCACAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04204.hp2 HG00140.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0151 a0002c0002t0001g0036 a0002c0002t0001g0151	2	156	0.0128	-112	c.-11 others(17): Show c.-11-1623_-11-1512del	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GLT1D1_chr12_128848478_128989968	128971699	TCCTCCCT others(105): Show TCCTCCCTTCCCCCCTCCCTCCTCCCTTCCCCCCTCCATCCTCCCTTCCC CCCTCCCTCCTCCCTTCCCCCCTCCCTTCCTCCCTCCCTCCTCCCTTCCT CCCTTCTTTGCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG01891.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0161 a0002c0003t0001g0315 a0001c0001t0001g0161 a0002c0003t0001g0315	2	318	0.0063	-112	c.880 others(19): Show c.880-11219_880-11108del	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GPR146_chr7_1039546_1064261	1041246	ACCTGGGC others(105): Show ACCTGGGCTCCGCGCTGCGGGGAAGGGGACCTGGGCTCCGCGCTGCGGGG AAGGGGACCTGGGGTCCGCGCTGCGGGGAAGGGGGCCTGGGGTCCGCGCT GCGGGGAAGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp2 others(2): Show HG00733.hp2 HG01069.hp1 HG01071.hp2 HG03927.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0048 a0001c0002t0005g0070 a0001c0002t0005g0219 others(1): Show a0001c0001t0001g0048 a0001c0002t0005g0070 a0001c0002t0005g0219 a0001c0002t0005g0220	5	432	0.0116	-112	c.-34 others(11): Show c.-3436_-3325del	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		3299		chr7	TogoVar
GRIK2_chr6_101388708_102075083	101761933	TTTTCCTT others(105): Show TTTTCCTTCCTTTCCTTCCTTCCCTTCCTTTCCTTTCCCCTCCCTTCCTT TCCTTCCTTCCTCCCTTCTTTTCTTTTCTTCCTTTCTTTCCTTTGTTTGT TTCTTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp1 HG02572.hp1 others(13): Show HG00735.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0007t0002 a0001c0008t0004 a0002c0012t0003	a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0002g0012 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0090 a0001c0001t0002g0116 a0001c0001t0004g0051 a0001c0001t0018g0015 a0001c0002t0001g0028 a0001c0002t0002g0092 a0001c0002t0014g0018 a0001c0007t0002g0025 a0001c0008t0004g0105 a0002c0012t0003g0077	16	116	0.1379	-112	c.952 others(19): Show c.952-37703_952-37592del	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar

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