Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC2A2_chr3_170991347_171031720	171006248	GTATCTCA others(53): Show GTATCTCACTTTAACTAAATTAGGAACTATTTGTTATATAAGGAATTAAC CTAGGTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02572.hp1 HG02895.hp2 others(7): Show HG00673.hp1 HG02572.hp1 HG02895.hp2 HG03453.hp2 HG03540.hp2 HG03942.hp2 NA18951.hp2 NA18990.hp1 NA19060.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0177 a0001c0002t0001g0178 others(6): Show a0001c0002t0001g0046 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0186	10	328	0.0305	-60	c.613 others(75): Show c.613-203_613-144delAAAAAACCTAGGTTAATTCCTTATATAACA AATAGTTCCTAATTTAGTTAAAGTGAGATA	SLC2A2	ENSG00000163581.14	transcript	ENST00000314251.8	protein_coding	5/10			chr3	TogoVar
SLC31A2_chr9_113146007_113169140	113156462	GCTGGTGT others(53): Show GCTGGTGTTCCCTGGTGAAGAAAGCTGAAAGCCATGGGACTAAAAACTCT GAGGATACCTC	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0096 a0001c0001t0008g0096	1	458	0.0022	-60	c.7-1 others(73): Show c.7-1264_7-1205delCTGGTGTTCCCTGGTGAAGAAAGCTGAAAGCC ATGGGACTAAAAACTCTGAGGATACCTC	SLC31A2	ENSG00000136867.11	transcript	ENST00000259392.8	protein_coding	1/3			chr9	TogoVar
SLC35F1_chr6_117902264_118322671	117924113	ATATACAC others(53): Show ATATACACACATAGGTACACATGCATATGTATATATACACACATAGGTAC ACATGCATATG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0154 a0001c0001t0016g0154	1	182	0.0055	-60	c.173 others(79): Show c.173+16219_173+16278delCACACATAGGTACACATGCATATGTA TATATACACACATAGGTACACATGCATATGTATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924118	CACACATA others(53): Show CACACATAGGTACACATGCATATGTATATATACACACATAGGTACACATG CATATGTATAT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0039 a0001c0001t0013g0039	1	182	0.0055	-60	c.173 others(79): Show c.173+16225_173+16284delTAGGTACACATGCATATGTATATATA CACACATAGGTACACATGCATATGTATATACACA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	ATATATAC others(53): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0131 a0001c0001t0030g0131	1	182	0.0055	-60	c.173 others(79): Show c.173+16461_173+16520delCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F4_chr14_57558920_57871092	57652619	GAGGATAG others(53): Show GAGGATAGTAACCCCCACACAAAGATCTAACAGGATAGTAACCCCCACAC AAAGATCTAAC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	218	0.0046	-60	c.104 others(79): Show c.104-58555_104-58496delGTTAGATCTTTGTGTGGGGGTTACTA TCCTGTTAGATCTTTGTGTGGGGGTTACTATCCT	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	1/7			chr14	TogoVar
SLC49A3_chr4_676829_694151	681595	CCGCCGCC others(53): Show CCGCCGCCCCGCCCCCTCCAGCGCCGCCCCGCCCCCTCCAGCGCCGCCCC GCCCCCTCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(68): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG03139.hp2 HG03490.hp1 HG03540.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18964.hp1 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18992.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0014 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0005c0014t0001 a0009c0013t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0002t0001g0002 a0001c0002t0001g0023 a0001c0003t0001g0007 a0005c0014t0001g0081 a0009c0013t0002g0036	71	412	0.1723	-60	c.30 others(69): Show c.303_*362delCTGGAGGGGGCGGGGCGGCGCTGGAGGGGGCGGGGC GGCGCTGGAGGGGGCGGGGCGGCG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		233		chr4	TogoVar
SLC66A2_chr18_79897420_79956653	79910264	ACACCAGA others(53): Show ACACCAGAGTCCCCAACCTTCCCCACCACCTCACCAGAGTCCCCAACCTT CCCCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00621.hp2 others(9): Show HG00408.hp2 HG00438.hp2 HG00621.hp2 HG02056.hp2 HG02071.hp1 HG02523.hp2 HG03453.hp2 NA18612.hp1 NA18965.hp2 NA18969.hp1 NA18990.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0029 a0001c0001t0001 a0001c0001t0015 a0001c0001t0029	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0057 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0141 a0001c0001t0015g0277 a0001c0001t0029g0092	12	352	0.0341	-60	c.609 others(77): Show c.609-6141_609-6082delAGGTGGTGGGGAAGGTTGGGGACTCTGG TGAGGTGGTGGGGAAGGTTGGGGACTCTGGTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC6A13_chr12_215622_267836	258965	CCTTAAGA others(53): Show CCTTAAGACCACAGAACAGTTTGGTTATCAACGTCATCATCAGCAGAGCT ACTATTTATTA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03098.hp2 HG02040.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0289 a0001c0001t0001g0220 a0001c0001t0001g0289	2	442	0.0045	-60	c.202 others(75): Show c.202+826_202+885delTAATAAATAGTAGCTCTGCTGATGATGACG TTGATAACCAAACTGTTCTGTGGTCTTAAG	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	2/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	259117	GTCATCAT others(53): Show GTCATCATCAGCAGAGCTACTATTTATTACTTAAGACCACAGAACAGTTT GGTTATCAACA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	442	0.0023	-60	c.202 others(75): Show c.202+674_202+733delTGTTGATAACCAAACTGTTCTGTGGTCTTA AGTAATAAATAGTAGCTCTGCTGATGATGA	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	2/14			chr12	TogoVar
SLC6A13_chr12_215622_267836	259247	GCAGAGCT others(53): Show GCAGAGCTACTACTTATTACTTAAGACCACAGAACAGTTTGGTTATCAAC GTCATCATCAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01346.hp1 others(12): Show HG00558.hp2 HG00673.hp2 HG01346.hp1 HG02004.hp2 HG02135.hp1 HG02165.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18956.hp2 NA18984.hp1 NA18986.hp2 NA19010.hp1 NA19082.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0302 others(10): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0002t0001g0303 a0001c0002t0001g0304	15	442	0.0339	-60	c.202 others(75): Show c.202+544_202+603delTTGATGATGACGTTGATAACCAAACTGTTC TGTGGTCTTAAGTAATAAGTAGTAGCTCTG	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	2/14			chr12	TogoVar
SLC6A18_chr5_1220381_1251189	1242329	ACGTCCAC others(53): Show ACGTCCACACGATCCCAACAGGGGCAGGAGGCGTCCACACGATCCCAACA GGGGCAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(81): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18963.hp2 NA18969.hp1 NA18985.hp2 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0012 a0014 a0020	a0001c0009 a0003c0004 a0003c0010 others(8): Show a0001c0009 a0003c0004 a0003c0010 a0003c0013 a0003c0027 a0003c0037 a0005c0006 a0012c0017 a0014c0023 a0014c0035 a0020c0036	a0001c0009t0001 a0003c0004t0001 a0003c0010t0001 others(9): Show a0001c0009t0001 a0003c0004t0001 a0003c0010t0001 a0003c0013t0001 a0003c0027t0001 a0003c0037t0001 a0005c0006t0003 a0005c0006t0004 a0012c0017t0003 a0014c0023t0001 a0014c0035t0001 a0020c0036t0001	a0001c0009t0001g0137 a0003c0004t0001g0016 a0003c0004t0001g0023 others(68): Show a0001c0009t0001g0137 a0003c0004t0001g0016 a0003c0004t0001g0023 a0003c0004t0001g0041 a0003c0004t0001g0044 a0003c0004t0001g0083 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0093 a0003c0004t0001g0098 a0003c0004t0001g0104 a0003c0004t0001g0106 a0003c0004t0001g0122 a0003c0004t0001g0123 a0003c0004t0001g0126 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0170 a0003c0004t0001g0172 a0003c0004t0001g0284 a0003c0004t0001g0297 a0003c0004t0001g0304 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0319 a0003c0004t0001g0346 a0003c0004t0001g0366 a0003c0004t0001g0370 a0003c0004t0001g0371 a0003c0004t0001g0372 a0003c0004t0001g0373 a0003c0004t0001g0380 a0003c0004t0001g0381 a0003c0004t0001g0383 a0003c0004t0001g0384 a0003c0004t0001g0385 a0003c0004t0001g0387 a0003c0004t0001g0391 a0003c0010t0001g0003 a0003c0010t0001g0274 a0003c0010t0001g0275 a0003c0010t0001g0281 a0003c0010t0001g0282 a0003c0013t0001g0024 a0003c0013t0001g0128 a0003c0013t0001g0132 a0003c0013t0001g0133 a0003c0013t0001g0318 a0003c0027t0001g0277 a0003c0037t0001g0303 a0005c0006t0003g0009 a0005c0006t0003g0033 a0005c0006t0003g0034 a0005c0006t0003g0035 a0005c0006t0003g0249 a0005c0006t0003g0250 a0005c0006t0003g0258 a0005c0006t0003g0260 a0005c0006t0003g0262 a0005c0006t0003g0263 a0005c0006t0003g0265 a0005c0006t0003g0266 a0005c0006t0003g0267 a0005c0006t0003g0268 a0005c0006t0004g0269 a0012c0017t0003g0191 a0012c0017t0003g0247 a0014c0023t0001g0272 a0014c0023t0001g0273 a0014c0035t0001g0127 a0020c0036t0001g0109	84	456	0.1842	-60	c.975 others(75): Show c.975-197_975-138delCGTCCACACGATCCCAACAGGGGCAGGAGG CGTCCACACGATCCCAACAGGGGCAGGAGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1411740	GCACATAC others(53): Show GCACATACCATGCAACATACACACTCAGACACACATACCATGCAACATAC ACACTCAGACA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0361 a0001c0002t0003g0361	1	373	0.0027	-60	c.115 others(77): Show c.1157-445_1157-386delTGTCTGAGTGTGTATGTTGCATGGTATG TGTGTCTGAGTGTGTATGTTGCATGGTATGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A9_chr1_43991483_44036462	44027832	GGGCGTGG others(53): Show GGGCGTGGTGGTAGGCGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCA GGAGAATCACT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	388	0.0026	-60	c.-86 others(77): Show c.-86+3414_-85-3471delAGTGATTCTCCTGCCTCAGCCTCCCAAG TAGTTGGGATTACAGGCGCCTACCACCACGCC	SLC6A9	ENSG00000196517.13	transcript	ENST00000372310.8	protein_coding	1/13			chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29558730	GGGGGGAG others(53): Show GGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAG AATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0100 a0001c0013t0006g0100	1	330	0.0030	-60	c.-11 others(79): Show c.-114-4930_-114-4871delTCACTCACATTCTCTCCCCCTCACTC ACATTCTCTCCCCCTCACTCACATTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558989	GGGGGGAG others(53): Show GGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(89): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02083.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18971.hp2 NA18981.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19065.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0014 a0001c0016 a0001c0019 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0035 a0001c0001t0048 a0001c0003t0005 a0001c0005t0006 a0001c0006t0001 a0001c0006t0029 a0001c0014t0004 a0001c0016t0006 a0001c0019t0007 a0002c0007t0016	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(84): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0067 a0001c0001t0003g0190 a0001c0001t0003g0229 a0001c0001t0003g0299 a0001c0001t0004g0272 a0001c0001t0006g0115 a0001c0001t0006g0216 a0001c0001t0008g0045 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0059 a0001c0001t0009g0221 a0001c0001t0009g0286 a0001c0001t0013g0004 a0001c0001t0013g0024 a0001c0001t0013g0025 a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0014g0250 a0001c0001t0015g0022 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0015g0029 a0001c0001t0018g0230 a0001c0001t0018g0231 a0001c0001t0021g0030 a0001c0001t0021g0031 a0001c0001t0035g0080 a0001c0001t0048g0315 a0001c0003t0005g0282 a0001c0005t0006g0062 a0001c0005t0006g0106 a0001c0005t0006g0107 a0001c0005t0006g0108 a0001c0005t0006g0109 a0001c0005t0006g0110 a0001c0006t0001g0009 a0001c0006t0001g0244 a0001c0006t0001g0249 a0001c0006t0029g0046 a0001c0014t0004g0260 a0001c0016t0006g0258 a0001c0019t0007g0014 a0002c0007t0016g0112	92	330	0.2788	-60	c.-11 others(79): Show c.-114-5189_-114-5130delTCACTCACATTCTCTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCTCTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559070	GGCAGAGT others(53): Show GGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG02148.hp1 others(5): Show HG00621.hp2 HG00733.hp1 HG02148.hp1 HG03654.hp1 NA18984.hp2 NA18990.hp1 NA19011.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009	a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0168 others(5): Show a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0168 a0001c0002t0002g0177 a0001c0002t0007g0015 a0001c0002t0007g0035 a0001c0002t0009g0157 a0001c0002t0009g0197	8	330	0.0242	-60	c.-11 others(79): Show c.-114-5270_-114-5211delTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCTCATTCAGATTCACTCTGC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559211	GGGGGAGT others(53): Show GGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGAG AATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19011.hp2 HG03654.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0085 a0001c0002t0007g0035 a0001c0002t0002g0085 a0001c0002t0007g0035	2	330	0.0061	-60	c.-11 others(79): Show c.-114-5411_-114-5352delTCACTCACATTCTCTCCCCCCTCACT CACATTCACTCCCCGTCACTCACATTCACTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559230	ACGGGGAG others(53): Show ACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGT GAATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18966.hp1 NA18942.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0169 a0001c0001t0001g0187	2	330	0.0061	-60	c.-11 others(79): Show c.-114-5430_-114-5371delCACTCACATTCACTCCCCCTCACTCA CATTCTCTCCCCCCTCACTCACATTCACTCCCCG	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	487070	CCACCGCA others(53): Show CCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGA CACCCACCACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02809.hp2 others(4): Show HG01891.hp2 HG02486.hp1 HG02809.hp2 HG02922.hp1 HG03195.hp2 HG03209.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0010 a0002c0010t0028 a0001c0001t0001 a0001c0001t0010 a0002c0010t0028	a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106 a0002c0010t0028g0189	7	218	0.0321	-60	c.675 others(77): Show c.675+1186_675+1245delTGTGGTGGGTGTCAGTGCGGTCTGGATC ACGGTGTCAGTGTGGTGGGTGTCAGTGCGGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	492159	TGGGGACT others(53): Show TGGGGACTCGTGGGGGAGGGGAGGGATGTCGGGGCAGGGCCTGTTGGGGA GGGAGGTCAGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp2 NA18948.hp1 HG00597.hp2 HG02056.hp2 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0001c0001t0001 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0005g0180 a0002c0002t0002g0099 a0001c0001t0001g0014 a0001c0001t0005g0180 a0002c0002t0002g0099	3	218	0.0138	-60	c.212 others(74): Show c.212-148_212-89delGCTGACCTCCCTCCCCAACAGGCCCTGCCCC GACATCCCTCCCCTCCCCCACGAGTCCCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	492176	GGGGAGGG others(53): Show GGGGAGGGATGTCGGGGCAGGGCCTGTTGGGGAGGGAGGTCAGCGGGGAC TCGTGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(122): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0008 a0010	a0001c0001 a0001c0003 a0001c0007 others(19): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0031 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0011 a0002c0018 a0006c0015 a0007c0016 a0008c0023 a0010c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(36): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0003t0008 a0001c0007t0001 a0001c0007t0012 a0001c0009t0009 a0001c0019t0009 a0001c0020t0004 a0001c0021t0032 a0001c0024t0004 a0001c0026t0012 a0001c0027t0007 a0001c0028t0011 a0001c0031t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0002c0004t0006 a0002c0004t0015 a0002c0005t0006 a0002c0010t0003 a0002c0011t0002 a0002c0018t0002 a0006c0015t0007 a0007c0016t0002 a0008c0023t0007 a0010c0017t0004	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0021 others(122): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0027 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0138 a0001c0001t0005g0166 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0190 a0001c0001t0005g0205 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0007g0065 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0011g0117 a0001c0001t0012g0182 a0001c0001t0017g0003 a0001c0001t0022g0070 a0001c0001t0023g0074 a0001c0001t0024g0119 a0001c0001t0027g0144 a0001c0001t0030g0169 a0001c0001t0033g0188 a0001c0003t0008g0118 a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0012g0176 a0001c0009t0009g0081 a0001c0019t0009g0008 a0001c0020t0004g0102 a0001c0021t0032g0204 a0001c0024t0004g0140 a0001c0026t0012g0212 a0001c0027t0007g0136 a0001c0028t0011g0085 a0001c0031t0004g0159 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0015 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0023 a0002c0002t0002g0049 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0075 a0002c0002t0002g0082 a0002c0002t0002g0149 a0002c0002t0003g0163 a0002c0002t0003g0174 a0002c0002t0003g0211 a0002c0002t0003g0217 a0002c0002t0019g0018 a0002c0004t0006g0173 a0002c0004t0015g0133 a0002c0005t0006g0214 a0002c0010t0003g0201 a0002c0011t0002g0101 a0002c0018t0002g0048 a0006c0015t0007g0004 a0007c0016t0002g0017 a0008c0023t0007g0147 a0010c0017t0004g0123	125	218	0.5734	-60	c.212 others(75): Show c.212-165_212-106delTTCCTCCACGAGTCCCCGCTGACCTCCCTC CCCAACAGGCCCTGCCCCGACATCCCTCCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49834409	ATATATAT others(53): Show ATATATATACTGTATATATATACTGTATATATATATATATACTGTATATA TATATACTGTG	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	360	0.0028	-60	c.290 others(77): Show c.290-5123_290-5064delCTGTATATATATACTGTATATATATATA TATACTGTATATATATATACTGTGTATATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN12_chr17_35405922_35437500	35424370	TGTGTAAC others(53): Show TGTGTAACTTTTAAGTTAAGAAGTATGACTTAAGTTTAACTTTTTTAAAA GTGGAATTTAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 NA18906.hp1 HG02280.hp1 HG02809.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0215 a0003c0003t0001g0058 a0003c0003t0001g0215	3	426	0.0070	-60	c.-40 others(77): Show c.-40-1362_-40-1303delTTAAATTCCACTTTTAAAAAAGTTAAAC TTAAGTCATACTTCTTAACTTAAAAGTTACAC	SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding	1/3			chr17	TogoVar
SLIT1_chr10_96993038_97190959	97141711	TGTACTGT others(53): Show TGTACTGTATTGTATTGTACTGTATTGTATCGTATCGTATCGTATCGTAT CGTATTGTATC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 NA18942.hp1 others(2): Show HG02258.hp2 HG02280.hp1 NA18942.hp1 NA18990.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0004t0003 a0001c0005t0001 a0001c0001t0002 a0001c0004t0003 a0001c0005t0001	a0001c0001t0002g0113 a0001c0001t0002g0144 a0001c0001t0002g0145 others(2): Show a0001c0001t0002g0113 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0004t0003g0176 a0001c0005t0001g0052	5	256	0.0195	-60	c.413 others(79): Show c.413+16047_413+16106delGATACAATACGATACGATACGATACG ATACGATACAATACAGTACAATACAATACAGTAC	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	4/36			chr10	TogoVar
SMC5_chr9_70253978_70359873	70275516	AATGTGAA others(53): Show AATGTGAATCTGATCTTAGTTTATTTGATAGTAATCATTCTCTTTTTCTC ATTGTTTTCTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0009 a0006c0011t0009	a0006c0011t0009g0310 a0006c0011t0009g0311 a0006c0011t0009g0310 a0006c0011t0009g0311	2	366	0.0055	-60	c.381 others(77): Show c.381-1685_381-1626delCATTGTTTTCTGATGTGAATCTGATCTT AGTTTATTTGATAGTAATCATTCTCTTTTTCT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC6_chr2_17658812_17758810	17739821	AACACACA others(53): Show AACACACACACACACACACACACAGACACACACACACACACACACAGAGA ATATGGTAAAC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18957.hp1 NA18971.hp1 others(4): Show NA18945.hp1 NA18957.hp1 NA18971.hp1 NA18984.hp1 NA18992.hp1 NA19012.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0024 a0001c0001t0004g0030 others(3): Show a0001c0001t0004g0003 a0001c0001t0004g0024 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036	7	254	0.0276	-60	c.239 others(77): Show c.239-1555_239-1496delGTTTACCATATTCTCTGTGTGTGTGTGT GTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMIM10L1_chr12_11166194_11181016	11168292	GAAAGAAA others(53): Show GAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	397	0.0025	-60	c.-30 others(71): Show c.-3064_-3005delAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2901		chr12	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(53): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01167.hp1 others(28): Show HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp2 HG02165.hp2 HG02293.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02965.hp1 HG02965.hp2 HG03239.hp1 HG03669.hp1 HG03704.hp2 HG04199.hp2 NA18953.hp2 NA18957.hp1 NA18973.hp1 NA19007.hp1 NA19009.hp2 NA19064.hp2 NA19086.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0125 a0001c0001t0002g0133 a0001c0001t0003g0006 a0001c0001t0003g0058 a0001c0001t0003g0090 a0001c0001t0003g0137	31	380	0.0816	-60	c.17 others(71): Show c.1726_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMOC2_chr6_168436184_168672992	168596419	TTTCCAGG others(53): Show TTTCCAGGGTGCTGCTGGAGGGGCATGAGCAAGCGCCACGTGAACACGGC AGTGCTAAGTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02970.hp2 others(2): Show HG02559.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0170 a0001c0001t0003g0169 a0001c0002t0002g0034 others(2): Show a0001c0001t0001g0170 a0001c0001t0003g0169 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0004t0005g0049	5	180	0.0278	-60	c.638 others(77): Show c.638-2379_638-2320delGGGCATGAGCAAGCGCCACGTGAACACG GCAGTGCTAAGTCTTCCAGGGTGCTGCTGGAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168612315	GCTGGGTT others(53): Show GCTGGGTTCGTGATCTCCATCAGGGGAGAGGGTGACCCCAACCTTTACTC AAACAGCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02083.hp2 HG02738.hp2 others(5): Show HG02056.hp2 HG02083.hp2 HG02738.hp2 HG03490.hp1 HG03834.hp1 NA18941.hp1 NA18944.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0013	a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0137 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0137 a0001c0002t0002g0017 a0001c0002t0002g0056 a0001c0002t0002g0065 a0001c0002t0008g0047 a0001c0002t0013g0062	8	180	0.0444	-60	c.907 others(77): Show c.907+4116_907+4175delACCTTTACTCAAACAGCAGCACTGGGTT CGTGATCTCCATCAGGGGAGAGGGTGACCCCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615660	AGGGGGCC others(53): Show AGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACA GCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0075 a0001c0001t0001g0078	2	180	0.0111	-60	c.907 others(77): Show c.907+7425_907+7484delGGCCTCTTCACACCTACAGCCAGCACAG GGCCTCTTCACACCTACAGCCAGCACAGGGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNRNP48_chr6_7585198_7616967	7616356	CCACCTCC others(53): Show CCACCTCCACTTTTTTTTTTTTTTTTTGAGACAGAGTCACTCTGTTGCCC AGGCTGGAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	-60	c.74 others(71): Show c.7484_*7543delCACCTCCACTTTTTTTTTTTTTTTTTGAGACAGA GTCACTCTGTTGCCCAGGCTGGAGTG	SNRNP48	ENSG00000168566.13	transcript	ENST00000342415.6	protein_coding		4390		chr6	TogoVar
SNX16_chr8_81794583_81847185	81842524	GAAAGAGA others(53): Show GAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGAGAGAGA GAGAGAGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA19240.hp2 HG03710.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0165 a0001c0001t0002g0168	2	306	0.0065	-60	c.-55 others(69): Show c.-559_-500delGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCT CCCTCGCTCGTTTTCTTTCTCTTT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		340		chr8	TogoVar
SNX9_chr6_157818246_157950077	157867624	CACAAATC others(53): Show CACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGG ACTTATTTTTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(54): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01928.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02280.hp1 HG02300.hp2 HG02738.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18939.hp1 NA18941.hp2 NA18960.hp1 NA18963.hp2 NA18975.hp1 NA18977.hp2 NA18987.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19063.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 others(1): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0002c0007t0007	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(54): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0008g0022 a0002c0002t0008g0024 a0002c0002t0012g0050 a0002c0007t0007g0043 a0002c0007t0007g0054	57	302	0.1887	-60	c.99+ others(72): Show c.99+53_99+112delCAAATCCGGTAAGAGAACTGTACATTCGAGTCT GATTGTCCCATGTGGACTTATTTTTAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS7_chr17_38346844_38410593	38371489	TGAACTCC others(53): Show TGAACTCCTGACCTCAGGGGATCTGCCCACCTCAGCCTCCCAAAGTGTTG GGATTACTGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.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 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0006 a0003c0005 a0004c0007 a0005c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0020 a0001c0002t0028 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0050 a0001c0002t0051 a0001c0004t0008 a0001c0004t0030 a0001c0004t0032 a0002c0003t0006 a0002c0003t0010 a0002c0003t0039 a0002c0006t0007 a0002c0006t0029 a0003c0005t0009 a0004c0007t0001 a0005c0009t0001 a0006c0008t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0107 others(282): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0002 a0001c0001t0003g0045 a0001c0001t0003g0237 a0001c0001t0003g0244 a0001c0001t0003g0249 a0001c0001t0003g0252 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0042 a0001c0001t0007g0231 a0001c0001t0009g0179 a0001c0001t0009g0180 a0001c0001t0012g0126 a0001c0001t0012g0129 a0001c0001t0012g0130 a0001c0001t0012g0185 a0001c0001t0013g0012 a0001c0001t0013g0013 a0001c0001t0013g0015 a0001c0001t0014g0120 a0001c0001t0014g0121 a0001c0001t0014g0125 a0001c0001t0016g0014 a0001c0001t0017g0172 a0001c0001t0017g0173 a0001c0001t0019g0189 a0001c0001t0019g0193 a0001c0001t0020g0171 a0001c0001t0021g0175 a0001c0001t0021g0176 a0001c0001t0022g0132 a0001c0001t0022g0162 a0001c0001t0023g0158 a0001c0001t0023g0190 a0001c0001t0024g0232 a0001c0001t0024g0233 a0001c0001t0025g0106 a0001c0001t0025g0108 a0001c0001t0026g0145 a0001c0001t0026g0281 a0001c0001t0027g0282 a0001c0001t0031g0194 a0001c0001t0034g0234 a0001c0001t0040g0220 a0001c0001t0041g0109 a0001c0001t0042g0133 a0001c0001t0043g0270 a0001c0001t0044g0105 a0001c0001t0045g0265 a0001c0001t0046g0226 a0001c0001t0047g0258 a0001c0001t0048g0160 a0001c0001t0049g0003 a0001c0001t0052g0254 a0001c0001t0053g0039 a0001c0001t0054g0188 a0001c0002t0002g0001 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0104 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0064 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0080 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0034 a0001c0002t0005g0035 a0001c0002t0005g0036 a0001c0002t0006g0099 a0001c0002t0008g0091 a0001c0002t0008g0100 a0001c0002t0008g0285 a0001c0002t0008g0286 a0001c0002t0010g0102 a0001c0002t0011g0016 a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0019 a0001c0002t0011g0021 a0001c0002t0015g0024 a0001c0002t0015g0025 a0001c0002t0015g0026 a0001c0002t0016g0010 a0001c0002t0016g0011 a0001c0002t0018g0008 a0001c0002t0018g0009 a0001c0002t0020g0077 a0001c0002t0028g0068 a0001c0002t0033g0052 a0001c0002t0035g0057 a0001c0002t0036g0283 a0001c0002t0037g0093 a0001c0002t0038g0284 a0001c0002t0050g0103 a0001c0002t0051g0048 a0001c0004t0008g0020 a0001c0004t0030g0023 a0001c0004t0032g0022 a0002c0003t0006g0092 a0002c0003t0006g0094 a0002c0003t0006g0096 a0002c0003t0006g0097 a0002c0003t0006g0098 a0002c0003t0006g0101 a0002c0003t0010g0004 a0002c0003t0010g0005 a0002c0003t0010g0006 a0002c0003t0010g0007 a0002c0003t0039g0095 a0002c0006t0007g0040 a0002c0006t0029g0041 a0003c0005t0009g0155 a0003c0005t0009g0184 a0003c0005t0009g0198 a0004c0007t0001g0110 a0004c0007t0001g0111 a0005c0009t0001g0199 a0006c0008t0001g0200	286	289	0.9896	-60	c.155 others(79): Show c.1552+3500_1552+3559delGAACTCCTGACCTCAGGGGATCTGCC CACCTCAGCCTCCCAAAGTGTTGGGATTACTGGC	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(53): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0018 a0018	a0018c0040 a0018c0040	a0018c0040t0001 a0018c0040t0001	a0018c0040t0001g0208 a0018c0040t0001g0208	1	364	0.0028	-60	c.11 others(71): Show c.1181_*1240delACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185781543	ATTGCCTC others(53): Show ATTGCCTCCAGCCTCTCCAGCCTCCCTTCCATTGCCTCTGGCCCCTCCAG CCTCCCTTCCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 NA20300.hp2 others(1): Show HG00642.hp1 HG01346.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 others(1): Show a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0011g0297	4	312	0.0128	-60	c.-23 others(79): Show c.-236-6237_-236-6178delGGGAAGGGAGGCTGGAGGGGCCAGAG GCAATGGAAGGGAGGCTGGAGAGGCTGGAGGCAA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185781603	CTTGCCTC others(53): Show CTTGCCTCCGGCCCCTCCAGCCTCCCTTCCATTGCCTCCGGCCTCTCCAG CGTCCCTTCCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG00639.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0075 a0001c0001t0012 a0001c0001t0075	a0001c0001t0012g0075 a0001c0001t0075g0076 a0001c0001t0012g0075 a0001c0001t0075g0076	2	312	0.0064	-60	c.-23 others(79): Show c.-236-6297_-236-6238delTGGAAGGGACGCTGGAGAGGCCGGAG GCAATGGAAGGGAGGCTGGAGGGGCCGGAGGCAA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185781616	CCTCCAGC others(53): Show CCTCCAGCCTCCCTTCCATTGCCTCCGGCCTCTCCAGCGTCCCTTCCATT GCCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01106.hp2 others(21): Show HG00558.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA19010.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0034 a0001c0001 a0001c0003 a0001c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0001t0052 a0001c0001t0065 a0001c0003t0001 a0001c0034t0006	a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0001t0001g0142 others(21): Show a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0001t0001g0142 a0001c0001t0001g0240 a0001c0001t0001g0255 a0001c0001t0002g0184 a0001c0001t0002g0204 a0001c0001t0003g0165 a0001c0001t0003g0185 a0001c0001t0003g0210 a0001c0001t0004g0113 a0001c0001t0004g0162 a0001c0001t0004g0203 a0001c0001t0005g0061 a0001c0001t0006g0254 a0001c0001t0006g0264 a0001c0001t0008g0166 a0001c0001t0008g0209 a0001c0001t0011g0307 a0001c0001t0028g0168 a0001c0001t0052g0266 a0001c0001t0065g0180 a0001c0003t0001g0301 a0001c0034t0006g0101	24	312	0.0769	-60	c.-23 others(79): Show c.-236-6310_-236-6251delAGGCCGGAGGCAATGGAAGGGACGCT GGAGAGGCCGGAGGCAATGGAAGGGAGGCTGGAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7246419	ATCTCACT others(53): Show ATCTCACTCGGGGCTTAAATGAACCCACACATCTCACCTGGGGCTTAAAT GAACCCACACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG01891.hp2 others(16): Show HG01109.hp2 HG01169.hp2 HG01891.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02970.hp2 HG02976.hp1 HG03453.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0016	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0038 a0001c0048 a0003c0013 a0003c0046 a0004c0007 a0005c0045 a0006c0021 a0007c0056 a0009c0025 a0012c0039 a0016c0019	a0001c0001t0018 a0001c0001t0023 a0001c0001t0050 others(16): Show a0001c0001t0018 a0001c0001t0023 a0001c0001t0050 a0001c0003t0052 a0001c0005t0004 a0001c0005t0007 a0001c0009t0029 a0001c0016t0013 a0001c0038t0038 a0001c0048t0001 a0003c0013t0021 a0003c0046t0001 a0004c0007t0001 a0005c0045t0001 a0006c0021t0070 a0007c0056t0021 a0009c0025t0031 a0012c0039t0063 a0016c0019t0018	a0001c0001t0018g0011 a0001c0001t0023g0168 a0001c0001t0050g0106 others(16): Show a0001c0001t0018g0011 a0001c0001t0023g0168 a0001c0001t0050g0106 a0001c0003t0052g0147 a0001c0005t0004g0101 a0001c0005t0007g0154 a0001c0009t0029g0038 a0001c0016t0013g0039 a0001c0038t0038g0128 a0001c0048t0001g0146 a0003c0013t0021g0100 a0003c0046t0001g0164 a0004c0007t0001g0026 a0005c0045t0001g0148 a0006c0021t0070g0103 a0007c0056t0021g0061 a0009c0025t0031g0025 a0012c0039t0063g0064 a0016c0019t0018g0027	19	168	0.1131	-60	c.480 others(79): Show c.480+53300_480+53359delTCGGGGCTTAAATGAACCCACACATC TCACCTGGGGCTTAAATGAACCCACACGTCTCAC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7246427	CGGGGCTT others(53): Show CGGGGCTTAAATGAACCCACACATCTCACCTGGGGCTTAAATGAACCCAC ACGTCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0030 a0013c0032t0030	a0013c0032t0030g0149 a0013c0032t0030g0149	1	168	0.0060	-60	c.480 others(79): Show c.480+53352_480+53411delCGTCTCACCTGGGGCTTAAATGAACC CACACATCTCACCTGGGGCTTAAATGAACCCACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7374108	ATTCTTTC others(53): Show ATTCTTTCTTTCTTTCTTTCCCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0013 a0001c0016t0013	a0001c0016t0013g0039 a0001c0016t0013g0039	1	168	0.0060	-60	c.481 others(79): Show c.481-22160_481-22101delCCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	105091328	CTTGCTTC others(53): Show CTTGCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTT CCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	134	0.0075	-60	c.109 others(79): Show c.1093+1491_1093+1550delTGCTTCCTTCCTTCGTTCCTTCCTTC CTTCCTCCCTCCCTCCCTCCTTCCCTCCTTCCTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPADH_chr10_122667850_122684494	122681274	TTCTCATG others(53): Show TTCTCATGTATGAACCGGAGATAGAAACATCAGACCTTTTACCTCTGTCA ACCATGGTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	-60	c.22 others(71): Show c.2227_*2286delTCTCATGTATGAACCGGAGATAGAAACATCAGAC CTTTTACCTCTGTCAACCATGGTTTC	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1781		chr10	TogoVar
SPATA6_chr1_48290373_48477204	48384338	CAGGGACA others(53): Show CAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0294 a0001c0001t0022g0294	1	322	0.0031	-60	c.909 others(75): Show c.909+911_909+970delCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTGTCCCTGTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPHKAP_chr2_227974955_228186687	228092251	ATGTGTGT others(53): Show ATGTGTGTATACGTACACACACACGTGTATGTGCGTGTATACGTGCACAC ACACGTGTATG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0067 a0005c0003t0002g0067	1	322	0.0031	-60	c.246 others(79): Show c.246+16521_246+16580delCATACACGTGTGTGTGCACGTATACA CGCACATACACGTGTGTGTGTACGTATACACACA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(53): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0079 a0001c0001t0051g0079	1	231	0.0043	-60	c.-28 others(81): Show c.-282+25663_-282+25722delATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRGAP2C_chr1_121179975_121397874	121239222	ATATATAC others(53): Show ATATATACTATATATATATATATACTATATATATATATATATATACTATA TATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0254 a0002c0002t0009g0254	1	274	0.0037	-60	c.68- others(77): Show c.68-45574_68-45515delCTATATATATATATATACTATATATATA TATATATATACTATATATATATATACTATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK2_chr7_105111374_105393921	105170836	GAAGAAAG others(53): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0218 a0001c0001t0001g0027 a0001c0001t0001g0218	2	282	0.0071	-60	c.230 others(77): Show c.230-1631_230-1572delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar

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