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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MBD3L4_chr19_7032749_7045179	7035052	ATATTATA others(110): Show ATATTATATATATTATATTATTATAATATAATATATATAATATTATATTA TATAATTATATATATTATATATATATATTATATATTATAATATTATATAT AATATATATTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA19003.hp1 NA19062.hp2 HG03491.hp2 NA19003.hp1 NA19062.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0001 a0009c0012t0001 a0002c0002t0001 a0009c0012t0001	a0002c0002t0001g0038 a0009c0012t0001g0022 a0002c0002t0001g0038 a0009c0012t0001g0022	3	262	0.0115	-117	c.26 others(11): Show c.2692_*2808del		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2696		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035052	ATATTATA others(110): Show ATATTATATATATTATATTATTATAATATAATATATATAATATTATATTA TATAATTATATATATTATATATATATATTATATATTATAATATTATATAT AATATATATTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA19003.hp1 HG03491.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0034 a0001c0016t0002g0038 a0001c0001t0002g0034 a0001c0016t0002g0038	2	249	0.0080	-117	c.21 others(11): Show c.2159_*2275del		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					2042		chr19	TogoVar
MED1_chr17_39399285_39456263	39428039	AGACTCCA others(110): Show AGACTCCACCTCTAAAAATAATAATAATAGGCCGGGCGCGATGGCTAATG CCTGTAATCCTAGCACTTTGGGAGGTAAAGATGGTGAATCACCTGAGGAG AGAAGTTCAAGACCAGCC	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18989.hp1 NA18964.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0083 a0001c0001t0001g0084	2	280	0.0071	-117	c.650 others(15): Show c.650-366_650-250del		MED1	ENSG00000125686.12	transcript	ENST00000300651.11	protein_coding	9/16						chr17	TogoVar
MELTF_chr3_196996740_197034817	197032523	AGCACCTG others(110): Show AGCACCTGCAGTCGTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGG TTGTGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACCCTCT TGCTGACTTGTTGGGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(173): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0010 a0014 a0015 a0017 a0019 a0020 a0021 a0022 a0024	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0019 a0001c0021 a0002c0004 a0003c0006 a0003c0040 a0004c0015 a0005c0010 a0010c0036 a0014c0025 a0015c0020 a0017c0030 a0019c0029 a0020c0022 a0021c0034 a0022c0018 a0024c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0053 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0026 a0001c0002t0055 a0001c0003t0001 a0001c0014t0003 a0001c0019t0001 a0001c0021t0001 a0002c0004t0007 a0003c0006t0020 a0003c0040t0001 a0004c0015t0010 a0005c0010t0001 a0010c0036t0001 a0014c0025t0001 a0015c0020t0001 a0017c0030t0002 a0019c0029t0001 a0020c0022t0005 a0021c0034t0031 a0022c0018t0003 a0024c0042t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0002g0059 a0001c0001t0002g0105 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0230 a0001c0001t0002g0240 a0001c0001t0002g0259 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0202 a0001c0001t0005g0003 a0001c0001t0005g0228 a0001c0001t0005g0258 a0001c0001t0005g0263 a0001c0001t0008g0172 a0001c0001t0008g0189 a0001c0001t0008g0195 a0001c0001t0008g0215 a0001c0001t0008g0222 a0001c0001t0010g0190 a0001c0001t0011g0045 a0001c0001t0011g0165 a0001c0001t0011g0237 a0001c0001t0012g0020 a0001c0001t0012g0055 a0001c0001t0012g0265 a0001c0001t0015g0058 a0001c0001t0015g0270 a0001c0001t0016g0226 a0001c0001t0016g0285 a0001c0001t0018g0242 a0001c0001t0018g0306 a0001c0001t0020g0256 a0001c0001t0022g0071 a0001c0001t0023g0056 a0001c0001t0023g0268 a0001c0001t0024g0227 a0001c0001t0024g0267 a0001c0001t0029g0057 a0001c0001t0030g0046 a0001c0001t0037g0204 a0001c0001t0038g0203 a0001c0001t0039g0277 a0001c0001t0053g0191 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0098 a0001c0002t0001g0126 a0001c0002t0001g0241 a0001c0002t0001g0286 a0001c0002t0004g0051 a0001c0002t0004g0200 a0001c0002t0004g0251 a0001c0002t0004g0287 a0001c0002t0008g0159 a0001c0002t0009g0034 a0001c0002t0009g0223 a0001c0002t0026g0160 a0001c0002t0055g0248 a0001c0003t0001g0015 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0014t0003g0304 a0001c0019t0001g0218 a0001c0021t0001g0219 a0002c0004t0007g0177 a0002c0004t0007g0235 a0003c0006t0020g0211 a0003c0040t0001g0275 a0004c0015t0010g0216 a0004c0015t0010g0217 a0005c0010t0001g0182 a0005c0010t0001g0183 a0010c0036t0001g0231 a0014c0025t0001g0186 a0015c0020t0001g0168 a0017c0030t0002g0197 a0019c0029t0001g0192 a0020c0022t0005g0257 a0021c0034t0031g0233 a0022c0018t0003g0291 a0024c0042t0001g0244	176	420	0.4191	-117	c.-29 others(11): Show c.-2938_-2822del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					2707		chr3	TogoVar
MLPH_chr2_237482251_237560322	237543809	AGTGGTGA others(110): Show AGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGG ACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGA GGACAGTGGTGAGTGGGG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19058.hp1 NA19079.hp1 NA19005.hp2 NA19058.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279	3	286	0.0105	-117	c.153 others(19): Show c.1539+1151_1539+1267del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543925	GGACAGTG others(110): Show GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGT GGGAGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG01884.hp2 HG02970.hp2	a0003 a0024 a0003 a0024	a0003c0003 a0024c0052 a0003c0003 a0024c0052	a0003c0003t0001 a0024c0052t0005 a0003c0003t0001 a0024c0052t0005	a0003c0003t0001g0229 a0024c0052t0005g0114 a0003c0003t0001g0229 a0024c0052t0005g0114	2	286	0.0070	-117	c.153 others(19): Show c.1539+1268_1539+1384del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544351	GGGACAGT others(110): Show GGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAGT GGGGACAGTGGTGAGTCGGGGGACAGTGGTGAATGGGCACGGTAGTGAGT GGGGGGACAGTAGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0030 a0030	a0030c0028 a0030c0028	a0030c0028t0001 a0030c0028t0001	a0030c0028t0001g0128 a0030c0028t0001g0128	1	286	0.0035	-117	c.153 others(19): Show c.1539+1695_1539+1811del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43496004	ATGGTGGT others(110): Show ATGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGT GATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGG AGATGGTGGTGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	250	0.0040	-117	c.633 others(17): Show c.633-2104_633-1988del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496760	GTGATGGT others(110): Show GTGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGCGGAGGTGGT GGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGTGGTGG AGGTAGTGGTGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0237 a0001c0008t0010g0237	1	250	0.0040	-117	c.633 others(17): Show c.633-1472_633-1356del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL23_chr11_1942332_1961600	1950571	CTGTTGTG others(110): Show CTGTTGTGAGTGGACACGCGGGGGTCTGCAGGGTTAGCTACCCTGTTTCC CGCCCACCCCTGTTGTGAGTGGACACGCGGGGGTCTGCAGGGTTAGCTAC CCTGTTTCCCGCCCACCA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	401	0.0025	-117	c.18- others(13): Show c.18-327_18-211del		MRPL23	ENSG00000214026.11	transcript	ENST00000397298.8	protein_coding	1/4						chr11	TogoVar
MRPL23_chr11_1942332_1961600	1950586	ACGCGGGG others(110): Show ACGCGGGGGTCTGCAGGGTTAGCTACCCTGTTTCCCGCCCACCCCTGTTG TGAGTGGACACGCGGGGGTCTGCAGGGTTAGCTACCCTGTTTCCCGCCCA CCACTGTTGGGAGTGGAC	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0139 a0012c0013t0001g0139	1	401	0.0025	-117	c.18- others(13): Show c.18-312_18-196del		MRPL23	ENSG00000214026.11	transcript	ENST00000397298.8	protein_coding	1/4						chr11	TogoVar
MRPL23_chr11_1942332_1961600	1950686	CCACTGTT others(110): Show CCACTGTTGGGAGTGGACACGCGGGGGTCTGCAGGGTTAGCTACCCCGTT TCCCGCCCACCACTGTTGGGAGTGGACACTCAGGGATCCGCAGTGTTAGC TACCCCCTTTTCTGCCCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0085 a0006c0012t0002g0085	1	401	0.0025	-117	c.18- others(12): Show c.18-211_18-95del		MRPL23	ENSG00000214026.11	transcript	ENST00000397298.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
MSH4_chr1_75791882_75918242	75886230	GTATATAT others(110): Show GTATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTAT ATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTAT ATATGATGTATTATATAT	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18968.hp1 HG03492.hp1 NA18968.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0265 a0005c0007t0001g0175 a0001c0001t0001g0265 a0005c0007t0001g0175	2	332	0.0060	-117	c.210 others(19): Show c.2107+2418_2107+2534del		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MUC5B_chr11_1218066_1267172	1255809	CCCCGGGC others(110): Show CCCCGGGCCCCCCAGACCCCTCGGCCTCTCTGAGTGTCCTGTGCGGTGAG TGGGGGCGGCCCCGGGCCCCCCAGACCCCTCGGCCTCTCTGAGTGTCCTG TGCGGTGAGTGGGGGCGG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0152 a0152	a0152c0065 a0152c0065	a0152c0065t0001 a0152c0065t0001	a0152c0065t0001g0109 a0152c0065t0001g0109	1	350	0.0029	-117	c.160 others(19): Show c.16066+255_16067-227del		MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	37/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5B_chr11_1218066_1267172	1255868	CCCCGGGC others(110): Show CCCCGGGCCCCCCAGACCCCTCGGCCTCTCTGAGTGTCCTGTGCGGTGAG TGGGGGCGGCCCCGGGCCCCCCAGACCCCTCGGCCTCTCTGAGTGTCCTG TGCGGTGAGTGGGGGCGG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0065 a0065	a0065c0123 a0065c0123	a0065c0123t0001 a0065c0123t0001	a0065c0123t0001g0093 a0065c0123t0001g0093	1	350	0.0029	-117	c.160 others(19): Show c.16067-284_16067-168del		MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	37/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO1F_chr19_8515778_8582442	8543684	GTGGTGGT others(110): Show GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGG TGCTGGTGGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	342	0.0029	-117	c.152 others(17): Show c.1524+496_1524+612del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
NCOR2_chr12_124319415_124572612	124431087	GCACACAC others(110): Show GCACACACATACAGTCAGACAGATATACACAGGCACACACAAGTCACACA GGCAGACACACATGCAGTCACAGACACACACAGATACACAAAGTCACACA GACATGCACACACAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp1 others(9): Show HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02630.hp2 HG02818.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp1 NA18522.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0012 a0024	a0001c0025 a0002c0111 a0003c0002 others(7): Show a0001c0025 a0002c0111 a0003c0002 a0003c0073 a0007c0004 a0008c0033 a0008c0034 a0008c0134 a0012c0107 a0024c0122	a0001c0025t0033 a0002c0111t0014 a0003c0002t0066 others(9): Show a0001c0025t0033 a0002c0111t0014 a0003c0002t0066 a0003c0073t0062 a0007c0004t0001 a0007c0004t0025 a0008c0033t0007 a0008c0033t0010 a0008c0034t0015 a0008c0134t0001 a0012c0107t0007 a0024c0122t0001	a0001c0025t0033g0137 a0002c0111t0014g0203 a0003c0002t0066g0111 others(9): Show a0001c0025t0033g0137 a0002c0111t0014g0203 a0003c0002t0066g0111 a0003c0073t0062g0136 a0007c0004t0001g0116 a0007c0004t0025g0145 a0008c0033t0007g0224 a0008c0033t0010g0225 a0008c0034t0015g0175 a0008c0134t0001g0107 a0012c0107t0007g0176 a0024c0122t0001g0133	12	234	0.0513	-117	c.883 others(15): Show c.883-417_883-301del		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	10/48						chr12	TogoVar
NEU4_chr2_241804193_241822413	241807290	CCACCTTC others(110): Show CCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACG CCAGGGACCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA21309.hp2 HG02723.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0194 a0001c0001t0004g0125 a0001c0001t0003g0194 a0001c0001t0004g0125	2	319	0.0063	-117	c.-19 others(11): Show c.-1987_-1871del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1902		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807356	AACCTCCG others(110): Show AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	319	0.0031	-117	c.-19 others(11): Show c.-1921_-1805del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1836		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79482673	TCCTGGGG others(110): Show TCCTGGGGTGTAATTCCAGCATGACCTGGTTCCTGGGGTGTAATTCCAGC GTGACCTGCTCCTGAGGTGTCACTCCAGCGTGACCTCGTTCCTGGGGTGT AATTCCAGCGTGACCTGG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0024 a0003c0007t0024	a0003c0007t0024g0146 a0003c0007t0024g0146	1	322	0.0031	-117	c.209 others(19): Show c.2093-3574_2093-3458del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9						chr18	TogoVar
NFE2L3_chr7_26147198_26192137	26183440	CCGGAGGC others(110): Show CCGGAGGCTAAGGCAGGAGAATCCTTTGAACCTGGGAGGCAGAGGGTGTA GTGAGCCGAGATTGCACCACTGCACTCCATTCTGGGCCAGAGTGAGATCC GTCTCAAAATATAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01517.hp2 HG02451.hp2 others(2): Show HG01099.hp2 HG01517.hp2 HG02451.hp2 HG03017.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0028 a0001c0002t0008g0064 a0001c0002t0008g0065 others(1): Show a0001c0002t0008g0028 a0001c0002t0008g0064 a0001c0002t0008g0065 a0001c0002t0008g0066	5	400	0.0125	-117	c.751 others(15): Show c.751-260_751-144del		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	2/3						chr7	TogoVar
NPIPB11_chr16_29376310_29411711	29383507	TGTCTTGA others(110): Show TGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCT CGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0122 a0122	a0122c0097 a0122c0097	a0122c0097t0027 a0122c0097t0027	a0122c0097t0027g0316 a0122c0097t0027g0316	1	428	0.0023	-117	c.130 others(9): Show c.1308_1424del	p.Arg others(13): Show p.Arg437_Thr475del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4171/6369	1308/3486	436/1161			chr16	TogoVar
NSMF_chr9_137442570_137464334	137460085	TTCACAGG others(110): Show TTCACAGGGCTTCGGGGGGCCTCACAGGGCTTCGGGGGGCCTCACAGGGC TGCAGGGGGTTCACAGAGCTTCAGGGGCCTCACAGAGCTTCAGGGGCCTC ACAGGACTGCAGGGGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02109.hp2 HG02723.hp2 HG01123.hp2 HG02109.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0057 a0001c0001t0006g0031 a0001c0001t0006g0057	3	414	0.0073	-117	c.-11 others(10): Show c.-1100_-984del		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding					752		chr9	TogoVar
NT5M_chr17_17298373_17352663	17307478	GCCTGTAA others(110): Show GCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATTGCCTGAGG TCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCTGCCTCAGCC AGGTACGGTGGTTCACGC	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0272 a0007c0004t0001g0272	1	348	0.0029	-117	c.368 others(15): Show c.368+837_368+953del		NT5M	ENSG00000205309.14	transcript	ENST00000389022.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTM_chr11_131365615_132341822	131789409	TTAAAAGA others(110): Show TTAAAAGAAAAAAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	86	0.0116	-117	c.83- others(19): Show c.83-122154_83-122038del		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8						chr11	TogoVar
NTN1_chr17_9016510_9249000	9161898	CGGGCAGG others(110): Show CGGGCAGGTGACTCTGGGTTCAAGTGGAGACCCCAGACCTGAAGCTGGAA ATACTGATTTGGGAGTTGGGAGCACAGAGATGATGAGTGGTGAAGGAGAC AGATGGGGAGGGTGTGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01069.hp1 others(23): Show HG00099.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01943.hp1 HG01981.hp2 HG02145.hp1 HG02280.hp2 HG02683.hp1 HG02683.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03490.hp1 HG03831.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0042 a0001c0001t0047	a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0001g0093 others(23): Show a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0001g0093 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0225 a0001c0001t0003g0022 a0001c0001t0003g0059 a0001c0001t0003g0109 a0001c0001t0004g0172 a0001c0001t0004g0256 a0001c0001t0005g0206 a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0008g0179 a0001c0001t0009g0029 a0001c0001t0012g0212 a0001c0001t0013g0252 a0001c0001t0018g0211 a0001c0001t0042g0253 a0001c0001t0047g0040	26	258	0.1008	-117	c.101 others(17): Show c.1019-912_1019-796del		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
OPCML_chr11_132409981_133537501	133140871	CGAAGAAG others(110): Show CGAAGAAGACGACGACGACGACGAAGACGACGACGACGAAGAAGAAGAAG ACGACGACGACGAAGAAGAAGAAGACGACGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp2 HG02965.hp2 others(3): Show HG01109.hp2 HG02809.hp2 HG02965.hp2 HG03041.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0049 a0001c0001t0003g0050 a0001c0001t0004g0007 others(3): Show a0001c0001t0001g0049 a0001c0001t0003g0050 a0001c0001t0004g0007 a0001c0001t0010g0066 a0001c0001t0012g0063 a0001c0001t0012g0068	6	68	0.0882	-117	c.62- others(19): Show c.62-197978_62-197862del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140910	AGAAGAAG others(110): Show AGAAGAAGAAGACGACGACGACGAAGAAGAAGAAGACGACGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGACGACGACGAC GACGACGACGACGACGAC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0053 a0001c0001t0026g0053	1	68	0.0147	-117	c.62- others(19): Show c.62-198017_62-197901del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR2V2_chr5_181142586_181164285	181160724	GTCACTGG others(110): Show GTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAG GACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGG GTGGGGCCAGGACGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02451.hp1 HG02572.hp1 others(9): Show HG00735.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG03139.hp1 HG03209.hp2 HG03669.hp2 HG03688.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0050 others(3): Show a0001c0001t0013 a0001c0001t0017 a0001c0001t0050 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068	a0001c0001t0013g0013 a0001c0001t0013g0033 a0001c0001t0013g0070 others(7): Show a0001c0001t0013g0013 a0001c0001t0013g0033 a0001c0001t0013g0070 a0001c0001t0017g0004 a0001c0001t0017g0010 a0001c0001t0017g0039 a0001c0001t0050g0086 a0001c0001t0066g0013 a0001c0001t0067g0033 a0001c0001t0068g0013	12	424	0.0283	-117	c.48 others(11): Show c.4835_*4951del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1440		chr5	TogoVar
ORC1_chr1_52367829_52409423	52407327	AATAAAGC others(110): Show AATAAAGCATTAACAGCTAGAAAATACCTAACTTTTGTTAGGCACTTACT GTGTGCTCTGTGCTATACTTAGCACTTTCAATGCATTTCTTGTTTATATA CCAAGCCATAAATTAGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	304	0.0033	-117	c.-32 others(11): Show c.-3204_-3088del		ORC1	ENSG00000085840.13	transcript	ENST00000371568.8	protein_coding					2905		chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31510809	TACATATG others(110): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0016 a0001c0002t0034g0016	1	244	0.0041	-117	c.894 others(17): Show c.894-7108_894-6992del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PCBP3_chr21_45638725_45947450	45852347	CAGCCACC others(110): Show CAGCCACCCTGACTTTTGTTCAGAAGGAACACAGCCCTGTAGCCACCCTG ACTTTTGTTCAGAAGGAACACAGCCCTGCAGCCACCCTGACTTCTGTTCG GAAGGAACACAGCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02630.hp2 others(7): Show HG01891.hp2 HG02486.hp2 HG02630.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0009 a0001c0001t0002 a0001c0001t0004 a0001c0002t0009	a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 others(7): Show a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0002t0009g0215 a0001c0002t0009g0285	10	292	0.0343	-117	c.10+ others(15): Show c.10+2345_10+2461del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977699	GCAACCCC others(110): Show GCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTC CCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGA ACTGCCTCCCACCCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG03579.hp2 HG02280.hp2 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0035 a0001c0001 a0001c0035	a0001c0001t0003 a0001c0001t0014 a0001c0035t0001 a0001c0001t0003 a0001c0001t0014 a0001c0035t0001	a0001c0001t0003g0113 a0001c0001t0014g0117 a0001c0035t0001g0098 a0001c0001t0003g0113 a0001c0001t0014g0117 a0001c0035t0001g0098	3	408	0.0074	-117	c.214 others(19): Show c.2149+1065_2150-1076del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	977838	AATCCCCC others(110): Show AATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCA ACCCCGGGAACCGCCTGC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0199 a0004c0004t0002g0199	1	408	0.0025	-117	c.214 others(18): Show c.2149+926_2149+1042del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PLEKHN1_chr1_961482_980865	977699	GCAACCCC others(110): Show GCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTC CCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGA ACTGCCTCCCACCCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02965.hp1 HG02280.hp1 HG02717.hp2 HG02965.hp1	a0001 a0009 a0001 a0009	a0001c0010 a0001c0012 a0009c0020 a0001c0010 a0001c0012 a0009c0020	a0001c0010t0003 a0001c0012t0040 a0009c0020t0003 a0001c0010t0003 a0001c0012t0040 a0009c0020t0003	a0001c0010t0003g0071 a0001c0012t0040g0102 a0009c0020t0003g0002 a0001c0010t0003g0071 a0001c0012t0040g0102 a0009c0020t0003g0002	3	422	0.0071	-117	c.31 others(11): Show c.3125_*3241del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1835		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137460085	TTCACAGG others(110): Show TTCACAGGGCTTCGGGGGGCCTCACAGGGCTTCGGGGGGCCTCACAGGGC TGCAGGGGGTTCACAGAGCTTCAGGGGCCTCACAGAGCTTCAGGGGCCTC ACAGGACTGCAGGGGGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02723.hp1 HG01123.hp1 HG02109.hp2 HG02723.hp1	a0019 a0023 a0030 a0019 a0023 a0030	a0019c0053 a0023c0060 a0030c0042 a0019c0053 a0023c0060 a0030c0042	a0019c0053t0004 a0023c0060t0004 a0030c0042t0004 a0019c0053t0004 a0023c0060t0004 a0030c0042t0004	a0019c0053t0004g0135 a0023c0060t0004g0096 a0030c0042t0004g0053 a0019c0053t0004g0135 a0023c0060t0004g0096 a0030c0042t0004g0053	3	188	0.0160	-117	c.19 others(9): Show c.191_*307del		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	35/35				191		chr9	TogoVar
PRDM16_chr1_3064203_3443621	3433482	GCTGCCTG others(110): Show GCTGCCTGTCTGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCT GGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCTGGGATGGCCCG CCCTGCCCACGCGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(14): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG01069.hp1 HG01070.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02698.hp2 HG03669.hp1 HG03669.hp2 NA18950.hp1 NA19004.hp1 NA19004.hp2 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0020 a0002c0003 a0003c0011 a0008c0027	a0001c0001t0005 a0001c0001t0030 a0001c0001t0076 others(10): Show a0001c0001t0005 a0001c0001t0030 a0001c0001t0076 a0001c0002t0005 a0001c0002t0079 a0001c0002t0080 a0001c0009t0005 a0001c0009t0074 a0001c0014t0030 a0001c0020t0005 a0002c0003t0075 a0003c0011t0001 a0008c0027t0078	a0001c0001t0005g0184 a0001c0001t0030g0162 a0001c0001t0076g0170 others(14): Show a0001c0001t0005g0184 a0001c0001t0030g0162 a0001c0001t0076g0170 a0001c0002t0005g0081 a0001c0002t0005g0141 a0001c0002t0005g0152 a0001c0002t0005g0186 a0001c0002t0079g0188 a0001c0002t0080g0076 a0001c0009t0005g0200 a0001c0009t0074g0117 a0001c0014t0030g0178 a0001c0020t0005g0196 a0002c0003t0075g0084 a0003c0011t0001g0056 a0003c0011t0001g0057 a0008c0027t0078g0082	17	210	0.0810	-117	c.369 others(16): Show c.3697-146_3697-30del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF38A_chr1_52399602_52425836	52407327	AATAAAGC others(110): Show AATAAAGCATTAACAGCTAGAAAATACCTAACTTTTGTTAGGCACTTACT GTGTGCTCTGTGCTATACTTAGCACTTTCAATGCATTTCTTGTTTATATA CCAAGCCATAAATTAGGT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0092 a0001c0001t0015g0092	1	308	0.0033	-117	c.291 others(17): Show c.291-1240_291-1124del		PRPF38A	ENSG00000134748.13	transcript	ENST00000257181.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGER4_chr5_40674915_40698735	40697034	GGAAAGAA others(110): Show GGAAAGAAAGGAAGGAAGGAAAGAAAGAAAAGAAAGAAAGGAAGGAAGGA AGGAAAGAAAGAGAAAAGAAAGAAAGGAAAGAAAAAAGAAAGAAAGGAAG GAAGGAAGGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	406	0.0025	-117	c.46 others(11): Show c.4657_*4773del		PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding					3300		chr5	TogoVar
PTPN21_chr14_88460778_88560007	88509084	CATAGCCG others(110): Show CATAGCCGGCTAACAGCAGCTCTTATCAATCACGTACTTGAAGCCACTCA CTTCTCCATTTTGATAAAGCTCTAGAGTGAAGATTTACTACTTCCTTTTA TTTATTTTCTCAACAGGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 NA20129.hp1 HG02970.hp1 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167	3	348	0.0086	-117	c.351 others(17): Show c.351-1181_351-1065del		PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	3/18						chr14	TogoVar
PUS7L_chr12_43713992_43763790	43754073	ATAGGCTA others(110): Show ATAGGCTAATATAAATGCCTAGGTTATCAGTAAGGCTAATTTTTAAATTC AGTGTAATTTAAAAGGTTTTATCATCTTCTAGTAAGTAACAGAATAAATA AGAATTCCTAGAGTTGCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0222 a0008c0010t0001g0222	1	306	0.0033	-117	c.910 others(15): Show c.910+146_910+262del		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding	2/8						chr12	TogoVar
RASA3_chr13_113972783_114137623	114104067	GGACACCC others(110): Show GGACACCCACCCCCGATGCGTCCACGCTGTCACGGCCACGGACACCCACC CCTGATGCGTCCACACTGCCACGGCCACGGACACCCACCCCTGATGCGTC CACACTGCCCTGGCCACA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18522.hp2 HG02723.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0005g0023 a0001c0001t0001g0009 a0001c0001t0005g0023	2	67	0.0299	-117	c.55+ others(17): Show c.55+28251_55+28367del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114104174	CCCTGGCC others(110): Show CCCTGGCCACAGACACCCACCCCCGATGCGTCCACGCTGCCACGGCCACG GACACCCACCCCTGATGCGTCCACACTGCCACGGCCACGGACACCCACCC CTGATGCGTCCACGCTGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	6	67	0.0896	-117	c.55+ others(17): Show c.55+28144_55+28260del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RIMS1_chr6_71881550_72408145	72152948	ATATGTAT others(110): Show ATATGTATATATATGGAATATATGTATATATATGTATATATGGAATATAT GTTTATATATGTATATATATGTGTGTGTGTATATATGTGTGTGTGTGTAT ATATATGTATATATTCCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0073 a0001c0006t0002g0073	1	140	0.0071	-117	c.472 others(19): Show c.472-26596_472-26480del		RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF212_chr4_1066478_1118564	1095277	CCCACAGC others(110): Show CCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACCA AGCACACCTCCCACAGCTCCATGGTCTCAGCATAGCGCACCTGGCTCATC ACAGAACCAAGCACAACT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	406	0.0025	-117	c.246 others(17): Show c.246+1371_246+1487del		RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9						chr4	TogoVar
RNF213_chr17_80255852_80403794	80314049	GTGGTGGA others(110): Show GTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGT ACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGTAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0079 a0001c0001t0029g0079	1	292	0.0034	-117	c.281 others(18): Show c.2811+893_2811+1009del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	209582	TGGGAGGC others(110): Show TGGGAGGCTGAGACAGATGGACCACAAGGTCAGAAGTTAGAGACCATCCT GGCCAACACGGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCTGG GCATGGTGGCACATGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	133	0.0075	-117	c.41 others(11): Show c.4153_*4269del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding					2806		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3177700	ATCGGGCT others(110): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-117	c.-10 others(10): Show c.-1092_-976del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					1068		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177778	ATCGGGCT others(110): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA18962.hp2 NA19240.hp2 HG00642.hp1 NA18962.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0000 a0001c0013t0001g0000 a0001c0001t0001g0000 a0001c0013t0001g0000	3	418	0.0072	-117	c.-10 others(10): Show c.-1014_-898del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					990		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178012	ATCGGGCT others(110): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	-117	c.-78 others(9): Show c.-780_-664del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					756		chr19	TogoVar

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