Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AGMO_chr7_15195317_15567015	15322587	TATATAAA others(111): Show TATATAAATATATATAAATATATATAAATATATAAATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATGTATATATA AATATATGAATATGTATAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02809.hp2 others(2): Show HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02976.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0005 a0010c0021 a0001c0001 a0001c0005 a0010c0021	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0010c0021t0001	a0001c0001t0001g0198 a0001c0001t0003g0043 a0001c0001t0003g0215 others(2): Show a0001c0001t0001g0198 a0001c0001t0003g0043 a0001c0001t0003g0215 a0001c0005t0003g0001 a0010c0021t0001g0042	5	236	0.0212	-118	c.126 others(21): Show c.1263+42809_1263+42926del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGPAT4_chr6_161124967_161279061	161265121	TGCTGGAC others(111): Show TGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGGGTGCTGATT AGTACCCACCGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGG GTGCTGATTAGTACCCACC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG02280.hp1 others(11): Show HG01934.hp1 HG02257.hp1 HG02280.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp2 NA18949.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0041 a0001c0001t0047 a0001c0001t0080	a0001c0001t0002g0247 a0001c0001t0005g0133 a0001c0001t0005g0257 others(11): Show a0001c0001t0002g0247 a0001c0001t0005g0133 a0001c0001t0005g0257 a0001c0001t0010g0195 a0001c0001t0015g0248 a0001c0001t0018g0193 a0001c0001t0018g0194 a0001c0001t0018g0198 a0001c0001t0019g0003 a0001c0001t0019g0199 a0001c0001t0025g0249 a0001c0001t0041g0136 a0001c0001t0047g0197 a0001c0001t0080g0196	14	264	0.0530	-118	c.-90 others(17): Show c.-90+8699_-90+8816del	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
ANOS1_chrX_8523874_8737137	8725581	GATATATA others(111): Show GATATATATATACAGATATATATATACAGATATATATATATACAGATATA TATATACAGATATATATACAGATATATATATATACAGATATATATATACA GATATATATATATACAGAT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	231	0.0043	-118	c.207 others(17): Show c.207+6131_207+6248del	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
ANXA2_chr15_60342151_60402986	60366820	GCCAGCCG others(111): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	334	0.0030	-118	c.149 others(17): Show c.149-2415_149-2298del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(111): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18998.hp2 HG01884.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0103 a0001c0004t0002g0239 a0001c0001t0002g0103 a0001c0004t0002g0239	2	406	0.0049	-118	c.806 others(15): Show c.806+530_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144531564	GGGCTAGA others(111): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18943.hp2 HG02027.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0001g0173 a0001c0001t0001g0205	2	246	0.0081	-118	c.298 others(17): Show c.2980+623_2981-694del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874613	GGTGGAGG others(111): Show GGTGGAGGTTCTAAGACAGGCTGGAGGAACAGTGCAGACACACACCAGGG TGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGAGGGAGAGTGCAGACAC ACACCGGGGTGTGTAAGCA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0050 a0001c0006t0050	a0001c0006t0050g0094 a0001c0006t0050g0094	1	363	0.0028	-118	c.680 others(17): Show c.680-1924_680-1807del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874850	GTAGAGGT others(111): Show GTAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACCCGGGGCC GTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACA CACGGGGCTGTGTCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00673.hp2 others(29): Show HG00597.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG02486.hp1 HG02922.hp1 HG03017.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18983.hp2 NA19009.hp2 NA19058.hp1 NA19065.hp2 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0023	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0016 a0001c0018 a0001c0020 a0001c0021 a0001c0023 a0001c0085 a0001c0094 a0001c0098 a0001c0113 a0001c0145 a0002c0074 a0004c0050 a0005c0136 a0023c0144	a0001c0001t0019 a0001c0001t0043 a0001c0002t0001 others(23): Show a0001c0001t0019 a0001c0001t0043 a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0050 a0001c0008t0002 a0001c0009t0002 a0001c0016t0004 a0001c0018t0008 a0001c0018t0025 a0001c0020t0008 a0001c0020t0016 a0001c0021t0005 a0001c0023t0001 a0001c0085t0001 a0001c0094t0009 a0001c0098t0033 a0001c0113t0047 a0001c0145t0001 a0002c0074t0002 a0004c0050t0005 a0005c0136t0005 a0023c0144t0007	a0001c0001t0019g0278 a0001c0001t0043g0145 a0001c0002t0001g0037 others(29): Show a0001c0001t0019g0278 a0001c0001t0043g0145 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0068 a0001c0002t0001g0341 a0001c0002t0010g0212 a0001c0003t0001g0081 a0001c0003t0001g0183 a0001c0004t0002g0251 a0001c0005t0001g0078 a0001c0006t0050g0094 a0001c0008t0002g0027 a0001c0009t0002g0080 a0001c0016t0004g0176 a0001c0018t0008g0290 a0001c0018t0025g0296 a0001c0020t0008g0291 a0001c0020t0008g0315 a0001c0020t0016g0092 a0001c0021t0005g0312 a0001c0023t0001g0034 a0001c0085t0001g0231 a0001c0094t0009g0186 a0001c0098t0033g0175 a0001c0113t0047g0123 a0001c0145t0001g0079 a0002c0074t0002g0052 a0004c0050t0005g0289 a0005c0136t0005g0316 a0023c0144t0007g0096	32	363	0.0882	-118	c.680 others(17): Show c.680-1679_680-1562del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
BANP_chr16_87946434_88082316	87989592	TGACGGGG others(111): Show TGACGGGGGATGCAGGCCCGCGTGGCTGCGCGCATCCAGGACACAGGACA CAGGGCGGGTGATGGGGGATGCAGGCCCGCGTGGCTGCGCATATCCAGGA CACAGGACACAGGGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(108): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18982.hp2 NA18985.hp1 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0009 others(5): Show a0001c0001 a0001c0007 a0001c0009 a0001c0014 a0001c0023 a0001c0033 a0001c0034 a0002c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0007t0002 a0001c0009t0001 a0001c0009t0005 a0001c0014t0019 a0001c0023t0005 a0001c0033t0005 a0001c0034t0001 a0002c0030t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(108): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0181 a0001c0001t0005g0253 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0013g0205 a0001c0001t0014g0193 a0001c0001t0020g0264 a0001c0007t0002g0211 a0001c0007t0002g0215 a0001c0009t0001g0189 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0014t0019g0199 a0001c0023t0005g0289 a0001c0033t0005g0107 a0001c0034t0001g0178 a0002c0030t0001g0173	111	352	0.3153	-118	c.362 others(17): Show c.362+5395_362+5512del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87989828	TGATGGGG others(111): Show TGATGGGGGATGCAGGCCCGCGTGGCTGCGTGCATCCAGGACACAGGACA CAGGGTGGGTGACGGGGGATGCAGGCCCGCGTGGCTGCGCACATCCAGGA CACAGGACACAGGGCGGGC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0146 a0001c0008t0004g0146	1	352	0.0028	-118	c.362 others(17): Show c.362+5572_362+5689del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
C7orf50_chr7_992006_1143247	1078921	CCAGCGGG others(111): Show CCAGCGGGTCAGGGCTCCATCAAGACTGCTGGTGAATGGCCGGCTGAGGA GGCAGCGAGGCAGCGGGTCAGGGCTCTGTCAAGACTGCTGGTGAATGGCC GGCTGAGGAGGCAGCGAGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0163 a0001c0001t0007g0163	1	326	0.0031	-118	c.129 others(19): Show c.129+48218_129+48335del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531174	TGAAGGGC others(111): Show TGAAGGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0010 a0002c0004t0003g0010	1	398	0.0025	-118	c.-23 others(11): Show c.-2376_-2259del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2064		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	AGAGCAGC others(111): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	-118	c.-23 others(11): Show c.-2393_-2276del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531210	GGGCTAGA others(111): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	-118	c.-24 others(11): Show c.-2412_-2295del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2100		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531564	GGGCTAGA others(111): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03834.hp2 NA18943.hp2 others(1): Show HG03239.hp2 HG03834.hp2 NA18943.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0002t0002g0001 a0001c0002t0002g0008 others(1): Show a0001c0001t0001g0002 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0019	4	398	0.0101	-118	c.-27 others(11): Show c.-2766_-2649del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2454		chr8	TogoVar
CADM2_chr3_84953989_86079429	85719619	ATCCTCAT others(111): Show ATCCTCATCTTCTTCACATTGATTAGGCTGAAAAGGAGGAGGAAAAGAAG GAACTGGTTATTCTATCTCAGGGATGGCAGAGGCAGGAGAAAATTTGCTT GTAAGTGGACTCATGCAGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	146	0.0069	-118	c.62- others(15): Show c.62-6900_62-6783del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79004336	GGAGGGGA others(111): Show GGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAG GGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTA GGGAGAGGAGTTAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG02622.hp1 others(1): Show HG01074.hp1 HG01255.hp1 HG02622.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0019 a0001c0002t0003 a0001c0002t0019	a0001c0002t0003g0045 a0001c0002t0003g0226 a0001c0002t0019g0203 a0001c0002t0003g0045 a0001c0002t0003g0226 a0001c0002t0019g0203	4	394	0.0102	-118	c.-14 others(19): Show c.-147+5210_-147+5327del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CARD10_chr22_37485362_37524415	37509877	CCCCCCAC others(111): Show CCCCCCACCCCCGTGCCCATGGGCCCCAGCCCTGGTACCTGCTGCAGGCC CTCCTGACCTCCTGCCAGCCTGTGCCCACAAGCCCCAGCCCTGGTACCTA CCGCAGGCCCTCCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04184.hp1 HG02602.hp2 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0005 a0001c0006 a0003c0005	a0001c0006t0001 a0003c0005t0001 a0001c0006t0001 a0003c0005t0001	a0001c0006t0001g0024 a0003c0005t0001g0215 a0001c0006t0001g0024 a0003c0005t0001g0215	2	276	0.0073	-118	c.909 others(15): Show c.909+217_909+334del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19			chr22	TogoVar
CATSPERE_chr1_244456273_244645504	244486458	TGTAGTCA others(111): Show TGTAGTCACCTGGTGGGTGGTCCAGCATGTGGGGTACTCGTGGGCCAGGT GTAGACCCTCGTAGTCACCTGGTGGGTGGTCCAGCATGTGGAGTACTCGT GGGCCAGGTGTAGACCCTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02723.hp1 others(1): Show HG02280.hp2 HG02615.hp1 HG02723.hp1 HG02895.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0001c0007 a0009c0017 a0001c0003 a0001c0007 a0009c0017	a0001c0003t0001 a0001c0007t0001 a0009c0017t0001 a0001c0003t0001 a0001c0007t0001 a0009c0017t0001	a0001c0003t0001g0147 a0001c0007t0001g0144 a0001c0007t0001g0146 others(1): Show a0001c0003t0001g0147 a0001c0007t0001g0144 a0001c0007t0001g0146 a0009c0017t0001g0145	4	206	0.0194	-118	c.327 others(17): Show c.327-3957_327-3840del	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894145	TTACACAC others(111): Show TTACACACATGCACGCACACATGCACACACACATGCATACATATACACAT GCACACAATGTACACACATGCACGCACACATGCACACACACATGCATACA TATACACATGCACACAATG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	284	0.0035	-118	c.380 others(17): Show c.380-1778_380-1661del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CDK12_chr17_39456486_39539544	39499071	CTTTCTTT others(111): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	260	0.0039	-118	c.242 others(19): Show c.2420-2177_2420-2060del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPVL3_chrX_51612020_51623912	51621572	CTTCTTCT others(111): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02559.hp1 others(5): Show HG01891.hp1 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 a0001c0001t0001 a0001c0001t0012 a0002c0002t0002	a0001c0001t0001g0000 a0001c0001t0012g0000 a0002c0002t0002g0000 a0001c0001t0001g0000 a0001c0001t0012g0000 a0002c0002t0002g0000	8	298	0.0269	-118	c.-28 others(11): Show c.-2817_-2700del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2661		chrX	TogoVar
CEP72_chr5_607340_658553	616839	AGTGGGGG others(111): Show AGTGGGGGTTTGCTTGCAGGAGGGCTGATGATGTGAAGAGAGTCTGTCCT GCAAGGCCCCTCCTGGTGCCAAGTGGACGAGGGGTGTGTGCGTGTGTGTA TGTGTTGTTGTGTGTGTGG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	91	0.0220	-118	c.83- others(15): Show c.83-2114_83-1997del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP83_chr12_94302698_94464867	94450242	ATATGCAA others(111): Show ATATGCAAAAATTGGTTGCATTTTTTTTTAGACAGATTCTCGCTCTGTCT TCTAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0061	1	364	0.0028	-118	c.-15 others(19): Show c.-155+9197_-155+9314del	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16			chr12	TogoVar
CFAP46_chr10_132803392_132947570	132820774	CGCTGATG others(111): Show CGCTGATGCGTGCTGTGTGAGCACTGATGTGTGCTGTGTGTGCTGATGTG TGCTGAGTGCTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGC TGATGTGTGCTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	246	0.0041	-118	c.711 others(19): Show c.7118-5978_7118-5861del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357337	AGGGGAAG others(111): Show AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACAGTGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0118 a0002c0002t0003g0118	1	236	0.0042	-118	c.351 others(19): Show c.3514-2871_3514-2754del	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP77_chr9_132405211_132578319	132453317	GAGTTCGA others(111): Show GAGTTCGAGACCAGCCTGGGCAACACGGTGAAACTCCGTCTCTGCTAAAA TACAAAAAAATTAGCTGGGCAAGACGGCATGCGCCTGTAATCCCAGTTAC TTGGGAGGCTGAGGCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0246 a0001c0005t0002g0157 a0001c0001t0001g0246 a0001c0005t0002g0157	2	322	0.0062	-118	c.195 others(19): Show c.195+42852_195+42969del	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5			chr9	TogoVar
CMTM7_chr3_32386853_32460528	32416325	AGCTGGGA others(111): Show AGCTGGGATTACAGACGTGCGCCACCATCCGGGCTAATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCCCCCAG GCCGGACTGCGGACTGACT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA20300.hp1 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0331 a0001c0001t0013g0332 a0001c0001t0008g0331 a0001c0001t0013g0332	2	368	0.0054	-118	c.159 others(19): Show c.159+24263_159+24380del	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL18A1_chr21_45400165_45518720	45437814	GCACACAC others(111): Show GCACACACTCACACTCAGACAAGCACTCTCCTGCACACACTCACACTCAC ACTCAGACACACAGGCACTCTCCTGCACACACACACTCACTCAGACACAG GCACTCTCCTGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0023 a0023	a0023c0103 a0023c0103	a0023c0103t0015 a0023c0103t0015	a0023c0103t0015g0045 a0023c0103t0015g0045	1	292	0.0034	-118	c.107 others(19): Show c.107-30420_107-30303del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A3_chr2_227159624_227319792	227203214	CACATATA others(111): Show CACATATATGTGTATATATGTGTATATATACATATATGTATATATACATA TATGTGTATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATGTGTATACAT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18999.hp2 NA19056.hp1 NA18975.hp1 NA18999.hp2 NA19056.hp1	a0002 a0008 a0002 a0008	a0002c0007 a0008c0009 a0002c0007 a0008c0009	a0002c0007t0001 a0008c0009t0001 a0002c0007t0001 a0008c0009t0001	a0002c0007t0001g0019 a0002c0007t0001g0310 a0008c0009t0001g0309 a0002c0007t0001g0019 a0002c0007t0001g0310 a0008c0009t0001g0309	3	344	0.0087	-118	c.88- others(17): Show c.88-34715_88-34598del	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPLX1_chr4_779957_831129	826359	GGGCGGGG others(111): Show GGGCGGGGGGCGGACCCGGGGCGGGGGCGGGGGGTGGACCCGGGGCGGGG GCGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGGGCGGGGG GTGGACCCGGGGCGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0126 a0001c0001t0017g0126	1	416	0.0024	-118	c.-51 others(9): Show c.-511_-394del	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		231		chr4	TogoVar
CTNND2_chr5_10966836_11909446	11120546	CATACTGT others(111): Show CATACTGTCCGCAGGGGTGATGAGGCTCAGTATACACATAGACTTCAAGA GGGGGTTATCATGCTGTCTGCAGGGGTGATGAGGCTCAGTTTACATATAG ACTTCAAGAGGGGGTTATT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02647.hp2 others(4): Show HG02258.hp1 HG02258.hp2 HG02647.hp2 HG03130.hp2 HG03471.hp2 NA19043.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0002	a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0006 others(4): Show a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0006t0002g0025	7	26	0.2692	-118	c.216 others(19): Show c.2160-3097_2160-2980del	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CYP4F12_chr19_15668087_15702174	15677815	CGCTCACT others(111): Show CGCTCACTCACTCATTCCTCTGCTCACTCTTATTCTTCTCCTCACTCATT CCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTACCCA TGCACTCATTCCTCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0001 a0020c0016t0001	a0020c0016t0001g0056 a0020c0016t0001g0056	1	410	0.0024	-118	c.199 others(15): Show c.199-445_199-328del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYP4F2_chr19_15873023_15903074	15882463	AATGTTCT others(111): Show AATGTTCTCAACATAAAAATGATAAATATATGAAGTGATGGATTTGTTCA TTACCTTGATTTAATAATTTCAGGTTGTATACATACATCATAACATCACA TTGTACCTCTAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0006 others(15): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0016 a0001c0020 a0001c0023 a0002c0003 a0003c0004 a0004c0007 a0004c0008 a0004c0010 a0005c0005 a0006c0009 a0007c0017 a0009c0014 a0010c0018 a0012c0015	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 others(20): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0006t0001 a0001c0012t0001 a0001c0016t0003 a0001c0020t0005 a0001c0023t0003 a0002c0003t0001 a0002c0003t0010 a0003c0004t0001 a0004c0007t0001 a0004c0007t0003 a0004c0008t0001 a0004c0008t0007 a0004c0010t0001 a0005c0005t0005 a0006c0009t0001 a0006c0009t0008 a0007c0017t0003 a0009c0014t0012 a0010c0018t0001 a0012c0015t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0002t0003g0001 others(103): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0002t0003g0001 a0001c0002t0003g0007 a0001c0002t0003g0012 a0001c0002t0003g0029 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0097 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0006g0043 a0001c0002t0006g0070 a0001c0002t0006g0117 a0001c0006t0001g0010 a0001c0006t0001g0033 a0001c0006t0001g0065 a0001c0006t0001g0066 a0001c0006t0001g0067 a0001c0006t0001g0068 a0001c0012t0001g0034 a0001c0016t0003g0148 a0001c0020t0005g0123 a0001c0023t0003g0145 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0048 a0002c0003t0001g0107 a0002c0003t0001g0124 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0147 a0002c0003t0010g0132 a0003c0004t0001g0005 a0003c0004t0001g0009 a0003c0004t0001g0014 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0004c0007t0001g0053 a0004c0007t0001g0172 a0004c0007t0001g0173 a0004c0007t0001g0175 a0004c0007t0001g0177 a0004c0007t0001g0178 a0004c0007t0001g0179 a0004c0007t0003g0171 a0004c0007t0003g0174 a0004c0008t0001g0019 a0004c0008t0001g0032 a0004c0008t0001g0063 a0004c0008t0007g0054 a0004c0008t0007g0181 a0004c0010t0001g0176 a0004c0010t0001g0180 a0005c0005t0005g0017 a0005c0005t0005g0027 a0005c0005t0005g0125 a0005c0005t0005g0138 a0005c0005t0005g0139 a0005c0005t0005g0140 a0005c0005t0005g0141 a0005c0005t0005g0144 a0005c0005t0005g0146 a0006c0009t0001g0099 a0006c0009t0001g0100 a0006c0009t0001g0101 a0006c0009t0001g0102 a0006c0009t0001g0118 a0006c0009t0008g0046 a0007c0017t0003g0069 a0009c0014t0012g0064 a0010c0018t0001g0134 a0012c0015t0001g0062	225	380	0.5921	-118	c.111 others(19): Show c.1116-2684_1116-2567del	CYP4F2	ENSG00000186115.13	transcript	ENST00000221700.11	protein_coding	9/12			chr19	TogoVar
DACH1_chr13_71432966_71872204	71735430	CGTATACG others(111): Show CGTATACGGATATACGTGTATATGGGATATACACGTATACGGGATATACG TGTATATGGGATATACACGTATACGGGATATACGTGTATATGGGATATAC ACGTATATGGGATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0098 a0005c0008t0001g0098	1	102	0.0098	-118	c.849 others(19): Show c.849-53638_849-53521del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DCDC2C_chr2_3698575_3853008	3837622	AAGAAATC others(111): Show AAGAAATCAGCCTTTGGCTCCCCCTTTCTGTCACACCTACATACCTAGTC TAGCAACAATTTTGCTAGACCAGGGTTTCTCAAGCGCAACACCATTGAAA TTTTGGGCTGGATGATTCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(160): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0003c0008 a0003c0009 a0004c0007 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0014 a0001c0002t0020 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0010 a0001c0006t0010 a0001c0006t0024 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0011 a0002c0003t0017 a0002c0004t0002 a0002c0004t0003 a0002c0004t0018 a0003c0008t0001 a0003c0008t0005 a0003c0009t0004 a0004c0007t0002 a0005c0010t0019	a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0001g0111 others(160): Show a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0001g0249 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0072 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0245 a0001c0001t0002g0297 a0001c0001t0002g0307 a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0109 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0165 a0001c0001t0003g0317 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0275 a0001c0001t0004g0316 a0001c0001t0004g0321 a0001c0001t0005g0049 a0001c0001t0005g0054 a0001c0001t0005g0059 a0001c0001t0005g0120 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0259 a0001c0001t0005g0271 a0001c0001t0005g0280 a0001c0001t0005g0288 a0001c0001t0005g0322 a0001c0001t0006g0051 a0001c0001t0006g0116 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0022g0073 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0066 a0001c0002t0001g0145 a0001c0002t0002g0003 a0001c0002t0002g0021 a0001c0002t0002g0042 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0096 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0146 a0001c0002t0002g0150 a0001c0002t0002g0244 a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0003g0063 a0001c0002t0003g0107 a0001c0002t0003g0124 a0001c0002t0003g0129 a0001c0002t0004g0012 a0001c0002t0004g0250 a0001c0002t0004g0256 a0001c0002t0004g0262 a0001c0002t0004g0279 a0001c0002t0004g0281 a0001c0002t0004g0283 a0001c0002t0004g0291 a0001c0002t0005g0013 a0001c0002t0005g0274 a0001c0002t0005g0276 a0001c0002t0005g0289 a0001c0002t0005g0292 a0001c0002t0005g0319 a0001c0002t0006g0284 a0001c0002t0007g0130 a0001c0002t0010g0222 a0001c0002t0014g0065 a0001c0002t0014g0068 a0001c0002t0020g0169 a0001c0005t0001g0248 a0001c0005t0002g0149 a0001c0005t0002g0152 a0001c0005t0002g0308 a0001c0005t0005g0263 a0001c0005t0010g0304 a0001c0006t0010g0159 a0001c0006t0010g0198 a0001c0006t0010g0228 a0001c0006t0024g0014 a0002c0003t0001g0179 a0002c0003t0001g0200 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0238 a0002c0003t0001g0240 a0002c0003t0002g0201 a0002c0003t0002g0209 a0002c0003t0002g0217 a0002c0003t0002g0221 a0002c0003t0003g0189 a0002c0003t0003g0191 a0002c0003t0003g0208 a0002c0003t0003g0211 a0002c0003t0003g0214 a0002c0003t0005g0010 a0002c0003t0011g0234 a0002c0003t0017g0237 a0002c0004t0002g0178 a0002c0004t0002g0182 a0002c0004t0002g0184 a0002c0004t0002g0192 a0002c0004t0003g0181 a0002c0004t0003g0183 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0193 a0002c0004t0003g0197 a0002c0004t0003g0199 a0002c0004t0003g0202 a0002c0004t0003g0203 a0002c0004t0003g0207 a0002c0004t0003g0318 a0002c0004t0018g0233 a0003c0008t0001g0064 a0003c0008t0005g0257 a0003c0009t0004g0295 a0004c0007t0002g0028 a0004c0007t0002g0041 a0005c0010t0019g0242	163	324	0.5031	-118	c.106 others(19): Show c.1066-9531_1066-9414del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10			chr2	TogoVar
DDA1_chr19_17304563_17328298	17315123	ATATATAC others(111): Show ATATATACACACATATATATACACACACGTATATATACACACGTGTATAT ACACACACGTGTATACACACACGTGTATACACACGTGTATATACACACAC GTGTATACACACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0184 a0001c0001t0007g0184	1	388	0.0026	-118	c.136 others(15): Show c.136+747_137-681del	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDIAS_chr11_82896736_82939659	82935857	AGCCTGGG others(111): Show AGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAGTTGAAAGA ATAGCACAATGATACGGAATGATACGGTATCTGTACATACCATTTAGATT CAATCATTTTAAACATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0176 a0004c0004t0003g0176	1	368	0.0027	-118	c.15 others(11): Show c.1523_*1640del	DDIAS	ENSG00000165490.13	transcript	ENST00000533655.6	protein_coding		1199		chr11	TogoVar
DLC1_chr8_13078361_13519851	13453397	TATATGTG others(111): Show TATATGTGTATATATATATATATATATGTGTATATATATATGTATATATA TACATATATATATGTATATATATACATATATATGTATATATATACATATA TATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02976.hp2 HG01891.hp1 HG02280.hp1 HG02976.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0006 a0008c0010 a0001c0001 a0002c0006 a0008c0010	a0001c0001t0009 a0002c0006t0007 a0008c0010t0007 a0001c0001t0009 a0002c0006t0007 a0008c0010t0007	a0001c0001t0009g0009 a0002c0006t0007g0017 a0008c0010t0007g0193 a0001c0001t0009g0009 a0002c0006t0007g0017 a0008c0010t0007g0193	3	212	0.0142	-118	c.102 others(21): Show c.1023+45534_1023+45651del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DMD_chrX_31114222_33216549	32452381	GGGAAAGG others(111): Show GGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01167.hp1 others(18): Show HG00280.hp1 HG01099.hp1 HG01167.hp1 HG01256.hp1 HG01358.hp1 HG01928.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02486.hp1 HG03195.hp2 NA18945.hp1 NA18952.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18982.hp1 NA18990.hp1 NA18995.hp1 NA19004.hp1 NA20805.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0011 a0016 a0031 a0032 a0034 a0035	a0001c0001 a0001c0002 a0001c0022 others(12): Show a0001c0001 a0001c0002 a0001c0022 a0002c0005 a0002c0009 a0002c0016 a0003c0003 a0004c0011 a0008c0010 a0011c0040 a0016c0043 a0031c0021 a0032c0039 a0034c0050 a0035c0037	a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 a0001c0022t0001 a0002c0005t0001 a0002c0009t0010 a0002c0016t0009 a0003c0003t0001 a0003c0003t0002 a0004c0011t0001 a0008c0010t0001 a0011c0040t0001 a0016c0043t0001 a0031c0021t0017 a0032c0039t0003 a0034c0050t0001 a0035c0037t0005	a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0026g0039 others(18): Show a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0026g0039 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0104 a0001c0022t0001g0036 a0002c0005t0001g0040 a0002c0009t0010g0023 a0002c0016t0009g0014 a0003c0003t0001g0033 a0003c0003t0001g0050 a0003c0003t0002g0043 a0004c0011t0001g0034 a0008c0010t0001g0044 a0011c0040t0001g0048 a0016c0043t0001g0112 a0031c0021t0017g0009 a0032c0039t0003g0075 a0034c0050t0001g0119 a0035c0037t0005g0082	21	126	0.1667	-118	c.360 others(19): Show c.3603+2163_3603+2280del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DNAH9_chr17_11593470_11974748	11694647	TCGCTTTC others(111): Show TCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTC GCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTT TCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02132.hp2 HG02257.hp2 others(3): Show HG02109.hp2 HG02132.hp2 HG02257.hp2 HG03453.hp2 HG03834.hp1 HG06807.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0032 a0035 a0071	a0001c0003 a0003c0013 a0004c0051 others(3): Show a0001c0003 a0003c0013 a0004c0051 a0032c0027 a0035c0038 a0071c0080	a0001c0003t0001 a0003c0013t0001 a0004c0051t0001 others(3): Show a0001c0003t0001 a0003c0013t0001 a0004c0051t0001 a0032c0027t0001 a0035c0038t0001 a0071c0080t0001	a0001c0003t0001g0087 a0003c0013t0001g0033 a0004c0051t0001g0074 others(3): Show a0001c0003t0001g0087 a0003c0013t0001g0033 a0004c0051t0001g0074 a0032c0027t0001g0075 a0035c0038t0001g0072 a0071c0080t0001g0022	6	178	0.0337	-118	c.487 others(17): Show c.4872+201_4872+318del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694655	TCGCTTTC others(111): Show TCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01978.hp2 others(9): Show HG01071.hp1 HG01071.hp2 HG01978.hp2 HG02071.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG03098.hp1 HG04115.hp2 NA18968.hp1 NA19030.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0011 a0023 a0024 a0041	a0001c0001 a0001c0003 a0001c0050 others(8): Show a0001c0001 a0001c0003 a0001c0050 a0002c0008 a0002c0010 a0002c0015 a0005c0131 a0011c0034 a0023c0030 a0024c0065 a0041c0146	a0001c0001t0001 a0001c0003t0001 a0001c0050t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0050t0001 a0002c0008t0001 a0002c0010t0001 a0002c0015t0001 a0005c0131t0001 a0011c0034t0001 a0023c0030t0001 a0024c0065t0001 a0041c0146t0001	a0001c0001t0001g0032 a0001c0001t0001g0155 a0001c0003t0001g0174 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0155 a0001c0003t0001g0174 a0001c0050t0001g0131 a0002c0008t0001g0039 a0002c0010t0001g0059 a0002c0015t0001g0055 a0005c0131t0001g0177 a0011c0034t0001g0069 a0023c0030t0001g0154 a0024c0065t0001g0047 a0041c0146t0001g0010	12	178	0.0674	-118	c.487 others(17): Show c.4872+209_4872+326del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DPH7_chr9_137549444_137583925	137565278	ACTCTGTC others(111): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04228.hp2 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0164 a0001c0001t0001g0224	2	340	0.0059	-118	c.641 others(15): Show c.641-242_641-125del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565722	TCTGTCTG others(111): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01106.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0169 a0001c0001t0001g0035 a0001c0001t0001g0169	2	340	0.0059	-118	c.641 others(15): Show c.641-686_641-569del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566072	ACTGTCTG others(111): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	340	0.0029	-118	c.641 others(16): Show c.641-1036_641-919del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567042	GGGGTGAC others(111): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	340	0.0029	-118	c.641 others(17): Show c.641-2006_641-1889del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567108	TCTGTCTG others(111): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	340	0.0029	-118	c.641 others(17): Show c.641-2072_641-1955del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567166	ACTCTGTC others(111): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19007.hp2 NA19080.hp2 NA18951.hp1 NA19007.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0285 a0001c0001t0002g0003 a0001c0001t0002g0285	3	340	0.0088	-118	c.641 others(17): Show c.641-2130_641-2013del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567430	ACTCTGTC others(111): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02818.hp2 others(1): Show HG01884.hp2 HG01891.hp1 HG02818.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0016 a0001c0001t0003g0245 a0002c0002t0001g0234 a0001c0001t0003g0016 a0001c0001t0003g0245 a0002c0002t0001g0234	4	340	0.0118	-118	c.641 others(17): Show c.641-2394_641-2277del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567584	TGTGAGGA others(111): Show TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCT CCCCGGGGTGACTCTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	340	0.0029	-118	c.641 others(17): Show c.641-2548_641-2431del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar

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