Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
XXYLT1_chr3_195063284_195276159	195272790	AAAAAAAA others(150): Show AAAAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTC GAGAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAG TGAGCCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAAC CCTGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	198	0.0051	-157	c.-18 others(11): Show c.-1889_-1733del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1632		chr3	TogoVar
ZNF723_chr19_22827291_22863667	22862463	TATGTAAT others(150): Show TATGTAATATAATATATATATTATATATATGTAATATAATATATATATTA TATATGTAATATAATATATAATATATGTAATATAATATATATTATATATG TAATATAATATATATTATATATGTAATATAATATATATTATATATGTAAT ATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	364	0.0028	-157	c.40 others(11): Show c.4031_*4187del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3797		chr19	TogoVar
ACAP2_chr3_195269745_195448020	195272791	AAAAAAAA others(149): Show AAAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCG AGAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGT GAGCCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACC CTGTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(90): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02738.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp2 NA18965.hp1 NA18974.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(90): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0320 a0001c0001t0010g0222 a0001c0001t0010g0227 a0001c0001t0010g0267 a0001c0001t0010g0273 a0001c0001t0010g0297 a0001c0001t0018g0213 a0001c0001t0018g0240 a0001c0001t0028g0298 a0001c0001t0031g0214 a0001c0001t0033g0261 a0001c0002t0001g0043	93	324	0.2870	-156	c.63 others(11): Show c.6381_*6536del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1953		chr3	TogoVar
ADGRV1_chr5_90553797_91169437	90596242	AAGAGGCG others(149): Show AAGAGGCGCTCCTCACTTCCCAGATAGGATGGCCGCCGGGCAGAGACGCT CCTCACTTTCCAGACTGGGCAACCAGGCAGAGGGGCTCCTCACATCCCAG ACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCG GCCGGGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0054 a0055 a0054 a0055	a0054c0057 a0055c0058 a0054c0057 a0055c0058	a0054c0057t0001 a0055c0058t0003 a0054c0057t0001 a0055c0058t0003	a0054c0057t0001g0145 a0055c0058t0003g0060 a0054c0057t0001g0145 a0055c0058t0003g0060	2	158	0.0127	-156	c.23- others(17): Show c.23-18586_23-18431del	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15354348	GTATATAG others(149): Show GTATATAGACGTGTGTATATAGACGTGTGTATACACGTGTGTGTATACAC GTGTGTGTACACACGTGTGTGTATACACACACGTGTGTGTATACACACGT GTGTGTATACACACGTGTGTGTATACACACGTGTGTATATACACACGTGT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	236	0.0042	-156	c.126 others(21): Show c.1263+11010_1263+11165del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGRN_chr1_1015120_1061116	1029671	ATGTGTGT others(149): Show ATGTGTGTGTGTGTGTGCAGTGCATGGTGCTGTGAGATCATGTGTGTGTG CAGTGCATGGTGCTGTGAGATCAGCGTGTGTGTGTGCAGTGCATGGTGCT GTGAGTGTGAGATCGTGTGTGTGTATGCAGTGCATGGTGCTGTGTGAGAT CAGCGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp1 HG02080.hp2 others(11): Show HG00408.hp1 HG01884.hp1 HG02080.hp2 HG02135.hp1 HG02647.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 NA18906.hp1 NA18967.hp1 NA18998.hp2 NA19056.hp2 NA20129.hp1	a0004 a0005 a0007 a0004 a0005 a0007	a0004c0025 a0004c0026 a0004c0056 others(2): Show a0004c0025 a0004c0026 a0004c0056 a0005c0003 a0007c0008	a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 others(3): Show a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 a0004c0056t0002 a0005c0003t0002 a0007c0008t0005	a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 others(11): Show a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 a0004c0026t0002g0032 a0004c0056t0002g0030 a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 a0005c0003t0002g0077 a0005c0003t0002g0147 a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 a0007c0008t0005g0191	14	210	0.0667	-156	c.464 others(17): Show c.464-5595_464-5440del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALLC_chr2_3653200_3707671	3671554	AGGTCCTC others(149): Show AGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGCTCTAGTTAGATG GGAGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCCCTGGCTCTATTTAGA TCCGAGGTCCTCTGGCTCTATTTAGATCCGAGGTCCTCTGGCTCTAGTTA GACCTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01081.hp2 others(55): Show HG00639.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01975.hp2 HG02004.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18960.hp2 NA18983.hp1 NA18995.hp2 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0002c0002 a0002c0005 others(10): Show a0001c0001 a0002c0002 a0002c0005 a0002c0013 a0002c0015 a0003c0003 a0003c0010 a0004c0004 a0005c0007 a0006c0006 a0007c0008 a0009c0016 a0010c0014	a0001c0001t0002 a0002c0002t0002 a0002c0005t0002 others(10): Show a0001c0001t0002 a0002c0002t0002 a0002c0005t0002 a0002c0013t0002 a0002c0015t0002 a0003c0003t0002 a0003c0010t0004 a0004c0004t0002 a0005c0007t0004 a0006c0006t0002 a0007c0008t0002 a0009c0016t0002 a0010c0014t0002	a0001c0001t0002g0019 a0001c0001t0002g0118 a0001c0001t0002g0143 others(54): Show a0001c0001t0002g0019 a0001c0001t0002g0118 a0001c0001t0002g0143 a0001c0001t0002g0154 a0001c0001t0002g0173 a0002c0002t0002g0002 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0119 a0002c0002t0002g0137 a0002c0002t0002g0144 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0155 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0002g0212 a0002c0002t0002g0222 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0005t0002g0012 a0002c0005t0002g0041 a0002c0013t0002g0030 a0002c0015t0002g0053 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0042 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0167 a0003c0003t0002g0171 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0209 a0003c0003t0002g0239 a0003c0010t0004g0256 a0004c0004t0002g0125 a0005c0007t0004g0253 a0005c0007t0004g0254 a0005c0007t0004g0257 a0006c0006t0002g0151 a0007c0008t0002g0207 a0009c0016t0002g0180 a0010c0014t0002g0246	58	274	0.2117	-156	c.33+ others(13): Show c.33+405_33+560del	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3671710	TGGTCCTC others(149): Show TGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGCTCTGGTTAGATC GGAGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGCTCTGGTTAGA TGGGAGGTCCTCTGGCTCTGGTTAGATTGGAGGTCCTCTGGCTCTGGTTA GATGGGA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0233	1	274	0.0037	-156	c.33+ others(13): Show c.33+569_33+724del	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO5_chr11_22188085_22288357	22269174	GAAGAGAA others(149): Show GAAGAGAAGGAAAAGGGAAGGGAAGGGAAGAGAAGGGAAGAAGGAAAGAA GAAAGGAAGGAAGGAAGGAGAAAAAAAGAAAGAGAAGGAAAAGGGAAGGG AAGGGAAGAGAAGGGAAGAAGGAAAGAAGAAAGGAAGGAAGGAAGGAGAA AAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03225.hp2 others(1): Show HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0014 a0001c0001t0059 a0007c0011t0018 a0001c0001t0014 a0001c0001t0059 a0007c0011t0018	a0001c0001t0014g0307 a0001c0001t0059g0348 a0007c0011t0018g0346 others(1): Show a0001c0001t0014g0307 a0001c0001t0059g0348 a0007c0011t0018g0346 a0007c0011t0018g0347	4	364	0.0110	-156	c.189 others(18): Show c.1899-1099_1899-944del	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP8_chr22_44747575_44867784	44801011	GTGTGTGG others(149): Show GTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCG CAGCTGTCCATGTGTGAGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGG GGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGCACCTCTCCCCGCAG CTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19003.hp1 HG02683.hp1 NA19003.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0034 a0002c0003 a0003c0034	a0002c0003t0004 a0003c0034t0002 a0002c0003t0004 a0003c0034t0002	a0002c0003t0004g0234 a0003c0034t0002g0167 a0002c0003t0004g0234 a0003c0034t0002g0167	2	390	0.0051	-156	c.80- others(14): Show c.80-1055_80-900del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44801027	TCTCCCCG others(149): Show TCTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTG AGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGCACCTCTCCCCGC AGCTGTCCATGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGG GGCGCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01109.hp1 others(5): Show HG00280.hp2 HG00741.hp2 HG01109.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0002 a0001c0001t0003 a0003c0005t0002	a0001c0001t0003g0028 a0001c0001t0003g0113 a0001c0001t0003g0137 others(5): Show a0001c0001t0003g0028 a0001c0001t0003g0113 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0344 a0003c0005t0002g0208	8	390	0.0205	-156	c.80- others(14): Show c.80-1035_80-880del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
BOK_chr2_241553745_241579131	241570446	GTGTCTGA others(149): Show GTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGG TACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGG AGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGT GAGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02486.hp1 HG01109.hp2 HG02258.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0001t0001 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0193 a0001c0001t0016g0247 a0001c0002t0001g0065 a0001c0001t0001g0193 a0001c0001t0016g0247 a0001c0002t0001g0065	3	434	0.0069	-156	c.513 others(15): Show c.513+161_513+316del	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C12orf56_chr12_64259762_64395758	64366318	TTATTATA others(149): Show TTATTATATATTATATACAGTTTATATATTATATATTATATACAGTTTAT ATATATTATATATAACATACAGTTTATATATATTATATATAACATACAGT TTATATATATTATATATAACATACAGTTTATATATATTATATATAACATA CAGTTTA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	312	0.0032	-156	c.253 others(19): Show c.253-13418_253-13263del	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C7orf50_chr7_992006_1143247	1116133	TGACATAA others(149): Show TGACATAACTACAGCTCTACGGACCGGCTTCCATCACCAACGCCCACGCA GGATGACATCACTACAGCTCTAGGGACTGGCTTCCATCACCAACGCCCAC GCAGGATGACTTCACTACAGCTCTACGGACCGGCTTCCATCACCAAGGCC CACGCAG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	326	0.0031	-156	c.129 others(19): Show c.129+10968_129+11123del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA2D4_chr12_1786963_1923652	1908655	CGGACATC others(149): Show CGGACATCCCCACGCCAACTCCCACGCCGGACTGCGTCACGGACATCCCC ACGCCAACTCCCACGCCGGACTGCGTCACGGACATCCCCACGCCAACTCC CACGCCGGACTGCCTCACGGACATCCCCACGCCAACTCCCACGCCGGACA GCGTTAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp2 NA18942.hp1 others(9): Show HG00438.hp1 HG01123.hp2 NA18942.hp1 NA18943.hp1 NA18953.hp2 NA18962.hp1 NA18969.hp2 NA18989.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0001	a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0002g0199 others(9): Show a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0003g0272 a0001c0002t0003g0275 a0001c0007t0001g0196 a0001c0007t0001g0271	12	318	0.0377	-156	c.487 others(15): Show c.487-774_487-619del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	4/37			chr12	TogoVar
CDH4_chr20_61247261_61945617	61659530	ACAGGAGG others(149): Show ACAGGAGGAGGGTGGGCCTCAGGCATCCGAGGCTTGGAGGCAGGAGGAGG GTGGGCCTCAGCCATCTGAGGCTTGGAGGCAGGAGGAGGGTGGGCCTCAG CCATCTGAGGCTTGGAGGCAGGAGGAGGGTAGGCCTCAGCCATCTGAGGC TTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp1 HG03139.hp2 others(1): Show HG00738.hp2 HG02055.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0012 a0001c0003 a0001c0006 a0001c0012	a0001c0003t0002 a0001c0003t0017 a0001c0006t0021 others(1): Show a0001c0003t0002 a0001c0003t0017 a0001c0006t0021 a0001c0012t0001	a0001c0003t0002g0002 a0001c0003t0017g0067 a0001c0006t0021g0004 others(1): Show a0001c0003t0002g0002 a0001c0003t0017g0067 a0001c0006t0021g0004 a0001c0012t0001g0008	4	106	0.0377	-156	c.170 others(19): Show c.170-83943_170-83788del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP72_chr5_607340_658553	629580	CCAGTCCT others(149): Show CCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGT GGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTC CAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGA TTTGACT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	91	0.0110	-156	c.513 others(17): Show c.513-4113_513-3958del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP299_chr4_80330730_80968750	80799795	ATTATATA others(149): Show ATTATATAATATATAAATATATATATTATATATATTTATATATTATATTA TATAATATATAAATATATATTATATATATTATATTATATAATATATAAAT TATATATTATAATATAATATATAATATATATATTTATATATTATATTATA TAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0082 a0002c0006t0001g0082	1	96	0.0104	-156	c.334 others(19): Show c.334-70196_334-70041del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44335931	ACTCAGCC others(149): Show ACTCAGCCAGTGTGCCCAGGGTGAATGCCCAGGGCCTGAGGGGAGCGGCC CTGCTCAGCCAGTGTGCCCAGGGTGAATGCCCAGGGCCTGAGGGGAGCGG CCCTGCTCAGCCAGTGTGCCCAGGGTGAATGCCCAGGGCCTGAGGGGAGC GGCCCTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0254 a0001c0002t0026g0254	1	436	0.0023	-156	c.97- others(13): Show c.97-283_97-128del	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	2/6			chr21	TogoVar
CFAP97D2_chr13_114174257_114228085	114199798	CTGAGGCG others(149): Show CTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGATGAGGGGTGA CGGCGCGTCCCCGTGCTTACGGTCCCCGATGAGGCGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGATGAGGCGTGACGGCGCGTCCCCGTGCTTACGG TCCCCGA	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	400	0.0025	-156	c.172 others(15): Show c.172-500_172-345del	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHMP3_chr2_86498430_86568443	86544987	AGACGAAG others(149): Show AGACGAAGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCGGACGAAGGGC GGCCGGGCAGAGGCGCTCCTCACCTCCCGGACGAAGGGCGGCCGGGCAGA GGCGCTCCTCACCTCCCGGACGAAGGGCGGCCGGGCAGAGGCGCTCCTCA CCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02896.hp1 others(5): Show HG02486.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0031 a0001c0001t0002 a0001c0001t0005 a0001c0001t0031	a0001c0001t0002g0017 a0001c0001t0002g0171 a0001c0001t0002g0174 others(4): Show a0001c0001t0002g0017 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0031g0172	8	336	0.0238	-156	c.46- others(15): Show c.46-2831_46-2676del	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHRM3_chr1_239381568_239920450	239732404	CTTAGATA others(149): Show CTTAGATAAGTATACCTAATATCTCACTTAGATAAGTATACCTAATATCT CACTTAGATAAGTATACCTAATATCTCACTTAGATAAGTATACCTAATAT CTCACTTAGATAAGTATACCTAATATCTCACTTAGATAAGTATACCTAAT ATCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01243.hp2 others(15): Show HG00639.hp1 HG01109.hp2 HG01243.hp2 HG01261.hp2 HG02451.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA18906.hp1 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0040 a0001c0001t0046 a0001c0001t0056 a0003c0004t0041 a0004c0003t0053	a0001c0001t0003g0039 a0001c0001t0003g0092 a0001c0001t0004g0035 others(15): Show a0001c0001t0003g0039 a0001c0001t0003g0092 a0001c0001t0004g0035 a0001c0001t0009g0045 a0001c0001t0012g0028 a0001c0001t0012g0049 a0001c0001t0015g0063 a0001c0001t0018g0042 a0001c0001t0019g0025 a0001c0001t0019g0040 a0001c0001t0020g0021 a0001c0001t0021g0093 a0001c0001t0027g0020 a0001c0001t0040g0102 a0001c0001t0046g0100 a0001c0001t0056g0079 a0003c0004t0041g0043 a0004c0003t0053g0099	18	116	0.1552	-156	c.-14 others(21): Show c.-147+54360_-147+54515del	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHST8_chr19_33616953_33778506	33630529	CACACTGG others(149): Show CACACTGGTGGGGCCAGTGCGTGGGGAAGGCAGTCTGTCTACACTGGCTG GGCCAGTGTGTGGTGCAGGCAGTCTGTCTACACTGGTGGGGCCAGTGCAT GGGGCAAGCAGTCCGTCTACGATGACGGAGCCAGCACGTGGGTCAGGCAG TCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	254	0.0039	-156	c.-16 others(19): Show c.-164+8257_-164+8412del	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLDN4_chr7_73825996_73837690	73835695	CCCTCTGC others(149): Show CCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGC CGCCATCCGACCTAGGAAGTGAGGAGCACCTCTGCCCGGCCGCCATCACA TCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATTGTCTGAGATGTG GGGAGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	372	0.0027	-156	c.38 others(11): Show c.3865_*4020del	CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding		3006		chr7	TogoVar
COL6A2_chr21_46093112_46134801	46134419	CAGGTTTA others(149): Show CAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTT TAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0266 a0001c0006t0006g0266	1	372	0.0027	-156	c.49 others(11): Show c.4929_*5084del	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4619		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134419	CAGGTTTA others(149): Show CAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTT TAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0263 a0001c0007t0003g0263	1	364	0.0028	-156	c.18 others(11): Show c.1868_*2023del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1572		chr21	TogoVar
COX7B2_chr4_46729827_46914245	46850121	TTGATTTA others(149): Show TTGATTTAAAAATGAGATACTGATTTAAAAATGATTTAAAAATAATGATT TAAAATAATTTAAAATGATTTAATTTTAAATAATTTAAATGATTTAATTT TAAATAATTTAAAATGATTTAAAATAATTTAAATGATTTAAAATGATTTA AAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02622.hp2 others(3): Show HG01167.hp1 HG02145.hp1 HG02622.hp2 HG03209.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 others(3): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0237 a0001c0001t0001g0282 a0001c0001t0002g0047	6	300	0.0200	-156	c.-10 others(19): Show c.-104-5263_-104-5108del	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587919	CACCCGCG others(149): Show CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATA CACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CCGTGTT	C C	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	348	0.0029	-156	c.928 others(15): Show c.928-751_928-596del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	2973829	ATGGTAGA others(149): Show ATGGTAGAGGATGATGGTAGAGGATGATGGTAGAGGATGGTGGTAGAGGA TGATGGTAGAGGATGATGGTAGAGGATGGTGGTAGAGGATGGTGGTAGAG GATGGTGGTAGAGGATGATGGTAGAGGATGATGGTAGAGGATGGTGGTAG AGGATGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 HG02280.hp2 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0074 a0003c0034 a0002c0074 a0003c0034	a0002c0074t0041 a0003c0034t0030 a0002c0074t0041 a0003c0034t0030	a0002c0074t0041g0031 a0003c0034t0030g0038 a0002c0074t0041g0031 a0003c0034t0030g0038	2	126	0.0159	-156	c.874 others(17): Show c.8740+466_8741-531del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	56/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4116392	ACCATGAA others(149): Show ACCATGAATGAACCCTAACGTAAGCTGTACACATCAGATGGCGACGTATG AGTGCAGGTGCCTGAATGGAACAAACGCGCCATGAATGAACCCTAACGTA AGCTGTACACATCCGACGGCGATGTATGAGTGCAGGTACCTGGATGGAAC AAACGCG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0009 a0002c0037t0009	a0002c0037t0009g0046 a0002c0037t0009g0046	1	126	0.0079	-156	c.416 others(19): Show c.416-84449_416-84294del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CYP4F12_chr19_15668087_15702174	15673951	CCACTCAC others(149): Show CCACTCACTCATTCCTCTACCCACTCACTCATTCCTCTACCCACTCACTC CTCTACCCACTCACTCACTCCTCTACCCACTCACTCACTCCTCTCCTCAC TCACTCATTCCTCTCCTCACTCACTCATTCCTCTACCCACTCACTCACTC CTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20300.hp1 HG02723.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	410	0.0049	-156	c.198 others(15): Show c.198+235_198+390del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15673962	TTCCTCTA others(149): Show TTCCTCTACCCACTCACTCATTCCTCTACCCACTCACTCCTCTACCCACT CACTCACTCCTCTACCCACTCACTCACTCCTCTCCTCACTCACTCATTCC TCTCCTCACTCACTCATTCCTCTACCCACTCACTCACTCCTTTCCTCACT CACTCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(106): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0012 a0014	a0001c0001 a0001c0008 a0001c0016 others(6): Show a0001c0001 a0001c0008 a0001c0016 a0002c0002 a0005c0007 a0007c0009 a0008c0010 a0012c0022 a0014c0021	a0001c0001t0001 a0001c0008t0002 a0001c0016t0001 others(6): Show a0001c0001t0001 a0001c0008t0002 a0001c0016t0001 a0002c0002t0001 a0005c0007t0004 a0007c0009t0001 a0008c0010t0001 a0012c0022t0007 a0014c0021t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0008t0002g0086 a0001c0008t0002g0111 a0001c0016t0001g0056 a0002c0002t0001g0009 a0002c0002t0001g0078 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0120 a0005c0007t0004g0207 a0005c0007t0004g0208 a0005c0007t0004g0209 a0005c0007t0004g0210 a0005c0007t0004g0211 a0005c0007t0004g0212 a0007c0009t0001g0007 a0008c0010t0001g0036 a0012c0022t0007g0205 a0014c0021t0004g0206	109	410	0.2659	-156	c.198 others(15): Show c.198+242_198+397del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH1_chr17_78669048_78787273	78760380	TATATACA others(149): Show TATATACACACACATACATATATATATGTGTATATATATATATATACACA TACATATATATATGTATATATATATACATACATATATATATGTATATATA TGTATGTATATATATATACATATATATGTATATATATGTATATATATATA TACATAC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18941.hp1 HG03927.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0005g0037 a0001c0001t0005g0042	2	378	0.0053	-156	c.22+ others(17): Show c.22+21666_22+21821del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051699	ACGGGCGG others(149): Show ACGGGCGGGGCCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAGGTT GGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGG GGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGC GGGCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(60): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01928.hp2 HG01975.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG04184.hp1 HG04199.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp1 NA18965.hp1 NA18971.hp1 NA18974.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19063.hp1 NA19067.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0006c0011 others(1): Show a0001c0001 a0001c0002 a0006c0011 a0009c0012	a0001c0001t0005 a0001c0001t0013 a0001c0001t0027 others(17): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0027 a0001c0001t0038 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0035 a0001c0002t0036 a0001c0002t0047 a0001c0002t0048 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0006c0011t0058 a0009c0012t0015	a0001c0001t0005g0136 a0001c0001t0005g0158 a0001c0001t0013g0039 others(59): Show a0001c0001t0005g0136 a0001c0001t0005g0158 a0001c0001t0013g0039 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0027g0035 a0001c0001t0027g0036 a0001c0001t0038g0031 a0001c0002t0001g0103 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0160 a0001c0002t0001g0166 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0005g0114 a0001c0002t0005g0148 a0001c0002t0005g0161 a0001c0002t0005g0163 a0001c0002t0005g0173 a0001c0002t0005g0179 a0001c0002t0005g0189 a0001c0002t0007g0162 a0001c0002t0007g0172 a0001c0002t0008g0139 a0001c0002t0008g0159 a0001c0002t0010g0013 a0001c0002t0010g0104 a0001c0002t0010g0107 a0001c0002t0010g0120 a0001c0002t0010g0130 a0001c0002t0010g0144 a0001c0002t0010g0151 a0001c0002t0010g0165 a0001c0002t0010g0169 a0001c0002t0015g0121 a0001c0002t0015g0168 a0001c0002t0016g0201 a0001c0002t0035g0105 a0001c0002t0035g0170 a0001c0002t0036g0180 a0001c0002t0047g0185 a0001c0002t0048g0117 a0001c0002t0051g0184 a0001c0002t0052g0150 a0001c0002t0053g0123 a0006c0011t0058g0138 a0009c0012t0015g0135	63	408	0.1544	-156	c.-60 others(9): Show c.-609_-454del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		68		chr17	TogoVar
DCBLD2_chr3_98790941_98906695	98857676	TTGGTGTA others(149): Show TTGGTGTATTTACAATCCCTTAGCTAGACATAAAGGTTCTCCACGTCCCC ACTAGAGTAGCTAGATACAGTCGATTGGTGCATTCACAAACCCTGAGCCA CACACAGGGTGCTGATTGGTGTCTTTACAAACCTTGAGCTAGATACAGAG TGCCGAC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	330	0.0030	-156	c.434 others(17): Show c.434-8234_434-8079del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DFFB_chr1_3852476_3890429	3874260	TGCTGTGG others(149): Show TGCTGTGGTCTGCAGAGCCGTGTAGCTGCACCTTTACCACACGCGTGTGG GTTTAACATGCACATACGTGGTGGCCCACGCTGTGGTCTGCAGAGCCGTG TAGCTGCACCTTTACCACACGCGTGTGGGTTTAACATGCACATACGTGGC CTCCCAC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	404	0.0025	-156	c.782 others(17): Show c.782+1915_782+2070del	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1483508	CAAGGGAA others(149): Show CAAGGGAAGGCTGAACTGCTGTGCAAGAGGCTCAGGAAGCAGGACCTGAG GGCGTCTACACAGAGCAGGGAGGCAGGCGCAGAACGTGAGGACAAGGGAA GGCTGAACTGCTGTGCAGGAGGCTCAGGGAGCAGGACCTGAGGGCGTCTA CACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-156	c.107 others(19): Show c.107-17857_107-17702del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DYNC2H1_chr11_103104426_103484863	103217199	ATGGGAGT others(149): Show ATGGGAGTTAGGATTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(229): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(32): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0035 a0036 a0037	a0001c0001 a0001c0005 a0001c0006 others(57): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0025 a0001c0028 a0001c0029 a0001c0036 a0001c0041 a0001c0051 a0001c0052 a0001c0057 a0002c0007 a0002c0009 a0002c0016 a0002c0026 a0002c0027 a0002c0045 a0002c0046 a0003c0002 a0003c0018 a0003c0023 a0003c0034 a0003c0050 a0004c0004 a0005c0011 a0006c0012 a0007c0013 a0008c0020 a0008c0048 a0009c0021 a0010c0014 a0011c0035 a0011c0065 a0012c0015 a0013c0019 a0014c0033 a0015c0031 a0016c0047 a0017c0055 a0017c0056 a0018c0030 a0019c0024 a0021c0063 a0022c0040 a0023c0038 a0024c0039 a0025c0043 a0026c0044 a0027c0058 a0028c0066 a0029c0053 a0030c0067 a0031c0042 a0032c0054 a0033c0049 a0035c0060 a0036c0062 a0037c0061	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(61): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001 a0001c0025t0001 a0001c0028t0001 a0001c0029t0001 a0001c0036t0001 a0001c0041t0001 a0001c0051t0001 a0001c0052t0001 a0001c0057t0001 a0002c0007t0001 a0002c0009t0001 a0002c0016t0001 a0002c0016t0002 a0002c0026t0001 a0002c0027t0001 a0002c0045t0001 a0002c0046t0002 a0003c0002t0001 a0003c0002t0006 a0003c0018t0001 a0003c0023t0001 a0003c0034t0001 a0003c0050t0001 a0004c0004t0001 a0005c0011t0001 a0006c0012t0001 a0007c0013t0001 a0008c0020t0001 a0008c0020t0003 a0008c0048t0001 a0009c0021t0001 a0010c0014t0001 a0011c0035t0001 a0011c0065t0002 a0012c0015t0002 a0013c0019t0001 a0014c0033t0001 a0015c0031t0001 a0016c0047t0001 a0017c0055t0001 a0017c0056t0001 a0018c0030t0001 a0019c0024t0001 a0021c0063t0001 a0022c0040t0001 a0023c0038t0001 a0024c0039t0001 a0025c0043t0001 a0026c0044t0001 a0027c0058t0003 a0028c0066t0001 a0029c0053t0001 a0030c0067t0001 a0031c0042t0001 a0032c0054t0001 a0033c0049t0001 a0035c0060t0001 a0036c0062t0001 a0037c0061t0001	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 others(229): Show a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0005t0001g0011 a0001c0005t0001g0100 a0001c0005t0001g0113 a0001c0005t0001g0120 a0001c0005t0001g0121 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0140 a0001c0005t0001g0145 a0001c0005t0001g0158 a0001c0005t0001g0159 a0001c0005t0001g0166 a0001c0005t0001g0191 a0001c0005t0001g0194 a0001c0005t0001g0201 a0001c0006t0001g0048 a0001c0006t0001g0049 a0001c0006t0001g0051 a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0054 a0001c0006t0001g0055 a0001c0006t0001g0056 a0001c0006t0001g0057 a0001c0006t0001g0058 a0001c0006t0001g0059 a0001c0006t0001g0060 a0001c0006t0001g0061 a0001c0006t0001g0063 a0001c0006t0001g0064 a0001c0008t0001g0104 a0001c0008t0001g0174 a0001c0008t0001g0177 a0001c0008t0001g0178 a0001c0008t0001g0186 a0001c0008t0001g0187 a0001c0008t0001g0188 a0001c0008t0001g0189 a0001c0008t0001g0192 a0001c0010t0001g0047 a0001c0010t0001g0171 a0001c0010t0001g0179 a0001c0010t0001g0180 a0001c0010t0001g0181 a0001c0010t0001g0182 a0001c0010t0001g0185 a0001c0025t0001g0050 a0001c0025t0001g0062 a0001c0028t0001g0172 a0001c0028t0001g0173 a0001c0029t0001g0098 a0001c0029t0001g0099 a0001c0036t0001g0161 a0001c0036t0001g0193 a0001c0041t0001g0115 a0001c0051t0001g0066 a0001c0052t0001g0133 a0001c0057t0001g0249 a0002c0007t0001g0003 a0002c0007t0001g0004 a0002c0007t0001g0005 a0002c0007t0001g0006 a0002c0007t0001g0007 a0002c0007t0001g0008 a0002c0007t0001g0009 a0002c0007t0001g0010 a0002c0007t0001g0070 a0002c0007t0001g0071 a0002c0009t0001g0251 a0002c0009t0001g0252 a0002c0009t0001g0254 a0002c0009t0001g0259 a0002c0009t0001g0260 a0002c0009t0001g0261 a0002c0009t0001g0262 a0002c0016t0001g0257 a0002c0016t0002g0255 a0002c0016t0002g0256 a0002c0026t0001g0250 a0002c0026t0001g0258 a0002c0027t0001g0222 a0002c0027t0001g0223 a0002c0045t0001g0221 a0002c0046t0002g0217 a0003c0002t0001g0012 a0003c0002t0001g0067 a0003c0002t0001g0112 a0003c0002t0001g0118 a0003c0002t0001g0119 a0003c0002t0001g0131 a0003c0002t0001g0141 a0003c0002t0001g0143 a0003c0002t0001g0147 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0152 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0157 a0003c0002t0001g0160 a0003c0002t0001g0165 a0003c0002t0001g0167 a0003c0002t0001g0197 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0006g0146 a0003c0018t0001g0175 a0003c0018t0001g0176 a0003c0018t0001g0184 a0003c0023t0001g0116 a0003c0023t0001g0162 a0003c0023t0001g0164 a0003c0034t0001g0041 a0003c0034t0001g0045 a0003c0050t0001g0142 a0004c0004t0001g0069 a0004c0004t0001g0072 a0004c0004t0001g0075 a0004c0004t0001g0076 a0004c0004t0001g0077 a0004c0004t0001g0081 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0005c0011t0001g0228 a0005c0011t0001g0229 a0005c0011t0001g0232 a0005c0011t0001g0233 a0005c0011t0001g0234 a0005c0011t0001g0235 a0006c0012t0001g0206 a0006c0012t0001g0209 a0006c0012t0001g0210 a0006c0012t0001g0211 a0006c0012t0001g0216 a0007c0013t0001g0073 a0007c0013t0001g0078 a0007c0013t0001g0082 a0007c0013t0001g0089 a0007c0013t0001g0093 a0008c0020t0001g0248 a0008c0020t0003g0169 a0008c0020t0003g0170 a0008c0048t0001g0246 a0009c0021t0001g0243 a0009c0021t0001g0244 a0009c0021t0001g0245 a0010c0014t0001g0212 a0010c0014t0001g0213 a0010c0014t0001g0215 a0011c0035t0001g0202 a0011c0035t0001g0204 a0011c0065t0002g0203 a0012c0015t0002g0225 a0012c0015t0002g0226 a0012c0015t0002g0227 a0013c0019t0001g0033 a0013c0019t0001g0034 a0013c0019t0001g0035 a0014c0033t0001g0230 a0014c0033t0001g0231 a0015c0031t0001g0029 a0015c0031t0001g0074 a0016c0047t0001g0253 a0017c0055t0001g0002 a0017c0056t0001g0001 a0018c0030t0001g0102 a0018c0030t0001g0103 a0019c0024t0001g0218 a0019c0024t0001g0220 a0021c0063t0001g0097 a0022c0040t0001g0208 a0023c0038t0001g0207 a0024c0039t0001g0214 a0025c0043t0001g0068 a0026c0044t0001g0219 a0027c0058t0003g0168 a0028c0066t0001g0205 a0029c0053t0001g0236 a0030c0067t0001g0163 a0031c0042t0001g0065 a0032c0054t0001g0117 a0033c0049t0001g0241 a0035c0060t0001g0224 a0036c0062t0001g0079 a0037c0061t0001g0080	232	262	0.8855	-156	c.883 others(19): Show c.8832+1347_8832+1502del	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	55/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
EIF4B_chr12_53001456_53047215	53030162	CAGTTAGC others(149): Show CAGTTAGCCAAGGTCTCATTTCAGCTTGGGCAACATAGTGAGACCCCATC TCTGCAAAAAATATAAAAGTTAGCTGAGCGTGGTAGCATGTGCCTGTAGT CCCCGTGTCTTAGGAGACTGAGGTAGGAGGGTCGCTTGAGCCTGGGAGGT CAAGGCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	372	0.0027	-156	c.979 others(17): Show c.979+1975_979+2130del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14			chr12	TogoVar
ELOA_chr1_23738471_23767059	23739372	TTTTTTTT others(149): Show TTTTTTTTTTTTTTTTTGAGACAGTTGTTGCCCAGGCTGGAGTGCAATGG CGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTTTC CTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACACC CGGCCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0061 a0003c0004t0003g0061	1	400	0.0025	-156	c.-41 others(11): Show c.-4131_-3976del	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		4098		chr1	TogoVar
ENOSF1_chr18_665318_717630	666897	TGATGGAG others(149): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGG TGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0313 a0001c0003t0001g0313	1	418	0.0024	-156	c.72 others(11): Show c.7252_*7407del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3420		chr18	TogoVar
ENOSF1_chr18_665318_717630	666945	TGATGGTG others(149): Show TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGAT GGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGG AGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA21309.hp2 HG03139.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0225 a0001c0001t0006g0207 a0001c0001t0006g0225	2	418	0.0048	-156	c.72 others(11): Show c.7204_*7359del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3372		chr18	TogoVar
ENOSF1_chr18_665318_717630	666957	AGATGGAG others(149): Show AGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGAT GGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGG AGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	418	0.0024	-156	c.71 others(11): Show c.7192_*7347del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3360		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43470238	GTATATAT others(149): Show GTATATATATACATATATATATACATATATATACACATATATATACATAT ATATATACACATATATATACATATATATACACATATATATATGTATATAT ATACGTATATATATATGTATATATATACGTATATATATACATATATATAC GTATATA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG02071.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0082 a0001c0002t0001g0083 a0001c0001t0002g0082 a0001c0002t0001g0083	2	188	0.0106	-156	c.-75 others(19): Show c.-75+13615_-75+13770del	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ERICH1_chr8_659200_736224	696550	CCCTCTCC others(149): Show CCCTCTCCTTCCTCCCCATCAGCCTGTACTCGCTCCTCTTACCCTCCACT CCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTCCACTCCTCTC CTTCCTCCCCATCAGCCTGCGCTCGCTCCTCACCCTCCACTCTTCTCCTT CTCCACT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(92): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01243.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0001c0003 a0006c0008 others(1): Show a0001c0001 a0001c0003 a0006c0008 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0006c0008t0001 a0011c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(88): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0254 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0003t0002g0252 a0006c0008t0001g0131 a0006c0008t0001g0179 a0011c0010t0002g0356	95	378	0.2513	-156	c.170 others(17): Show c.170-4094_170-3939del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FAM161A_chr2_61819848_61859060	61848926	TTATATAT others(149): Show TTATATATATATATTTATATATATTTATATATATATTTATATATATATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATATAAATATAT ATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19043.hp1 HG01891.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0104 a0001c0001t0001g0112	2	400	0.0050	-156	c.183 others(17): Show c.183+4777_183+4932del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM161A_chr2_61819848_61859060	61848939	TTTATATA others(149): Show TTTATATATATTTATATATATATTTATATATATATATATTTATATATTTA TATATATTTATATATATATTTATATATTTATATATATTTATATATATATT TATATATTTATATATATTTATATATATATAAATATATATATTTATATATA TATTTAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG02897.hp1 HG02280.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0277 a0001c0001t0001g0047 a0001c0001t0001g0277	3	400	0.0075	-156	c.183 others(17): Show c.183+4764_183+4919del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM171A1_chr10_15206643_15376289	15229771	CCATCATC others(149): Show CCATCATCACCATCACCACCATCACCATCATCACCATCACCACCACCATC ACCATCATCATCATCACCACCATCACCATCATCACCATCACCCCCATCAC CATCATCACCATCACCACCATCACCATCATCACCATCACCACCATCACCA ACATCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0029 a0001c0007t0029	a0001c0007t0029g0267 a0001c0007t0029g0267	1	303	0.0033	-156	c.755 others(17): Show c.755-8867_755-8712del	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FOLH1_chr11_49140092_49213602	49168182	TAATGACA others(149): Show TAATGACAGTGATGAGTGCCATGAAGACATGTCTTCCCTGAAAAAGTAAC ATTTCAAAGGAGGGTCTAAGGATAAGGATTAAACACATAAAGAGGTGTTG AAGAGCAATCTGAGTGTAGAGAACAGGAGAGCAATGGCTGGGATGTTGCA TATGGTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02559.hp2 others(1): Show HG01884.hp1 HG02055.hp1 HG02559.hp2 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0028 a0003c0005t0006g0326 a0003c0005t0006g0327 a0003c0005t0006g0028 a0003c0005t0006g0326 a0003c0005t0006g0327	4	374	0.0107	-156	c.137 others(18): Show c.1372+857_1372+1012del	FOLH1	ENSG00000086205.18	transcript	ENST00000256999.7	protein_coding	12/18			chr11	TogoVar
FOXN3_chr14_89151177_89422233	89361454	GCACCACC others(149): Show GCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCC ACCACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTA CCTCCAC	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0210 a0001c0001t0010g0210	1	230	0.0044	-156	c.544 others(19): Show c.544-10802_544-10647del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar