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
SLIT1_chr10_96993038_97190959	97166557	A A	AGGAAGGA others(17): Show AGGAAGGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18960.hp2 NA18963.hp2 NA18943.hp2 NA18960.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0026 a0001c0001t0002g0008 a0001c0004t0001g0024 a0001c0001t0001g0026 a0001c0001t0002g0008 a0001c0004t0001g0024	3	120	0.0250	24	c.198 others(41): Show c.198-1668_198-1667insCTCTCTCTCTCTCTCTTTCCTTCC	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT1_chr10_96993038_97190959	97166557	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0004 a0001c0001t0001 a0001c0026t0004	a0001c0001t0001g0158 a0001c0026t0004g0091 a0001c0001t0001g0158 a0001c0026t0004g0091	2	119	0.0168	24	c.198 others(41): Show c.198-1668_198-1667insCTCTCTCTCTCTTTCCTTCCTTCC	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT1_chr10_96993038_97190959	97166557	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	118	0.0085	24	c.198 others(41): Show c.198-1668_198-1667insCTCTCTCTTTCCTTCCTTCCTTCC	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT1_chr10_96993038_97190959	97166569	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0147 a0001c0004t0001g0147	1	95	0.0105	24	c.198 others(41): Show c.198-1703_198-1680dupTTCTTTCTTTCTTTCTTTCTTTCT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	1/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp1 HG02132.hp2 others(6): Show HG00280.hp2 HG01496.hp1 HG02132.hp2 HG02698.hp1 HG03710.hp2 NA18941.hp2 NA18982.hp2 NA18983.hp1 NA19060.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0009 a0004c0018 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0004t0002 a0002c0009t0001 a0004c0018t0005 a0007c0015t0002	a0001c0001t0001g0036 a0001c0001t0001g0122 a0001c0001t0003g0103 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0122 a0001c0001t0003g0103 a0001c0001t0005g0119 a0001c0002t0001g0118 a0001c0004t0002g0124 a0002c0009t0001g0111 a0004c0018t0005g0136 a0007c0015t0002g0072	9	70	0.1286	24	c.395 others(43): Show c.395+38282_395+38283insCTCCCTCCTTCCTTCCTTCCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCCTCC others(17): Show CTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18964.hp2 NA18998.hp2 others(2): Show HG00423.hp1 NA18964.hp2 NA18998.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0009 a0001c0001t0072 a0001c0004t0009 others(1): Show a0001c0001t0009 a0001c0001t0072 a0001c0004t0009 a0001c0011t0080	a0001c0001t0009g0151 a0001c0001t0072g0150 a0001c0004t0009g0149 others(2): Show a0001c0001t0009g0151 a0001c0001t0072g0150 a0001c0004t0009g0149 a0001c0004t0009g0152 a0001c0011t0080g0093	5	66	0.0758	24	c.395 others(43): Show c.395+38282_395+38283insCTCCTTCCTTCCTTCCTTCCTTCC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20307160	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp2 HG02300.hp2 others(1): Show HG01167.hp1 HG01175.hp2 HG02300.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0015 a0001c0002t0010 a0001c0001t0003 a0001c0001t0015 a0001c0002t0010	a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0015g0046 others(1): Show a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0015g0046 a0001c0002t0010g0216	4	65	0.0615	24	c.395 others(43): Show c.395+38290_395+38313dupCTTCCTTCCTTCCTTCCTTCCTTC	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20307231	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18944.hp1 HG03239.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0128 a0001c0002t0007g0176 a0001c0001t0001g0128 a0001c0002t0007g0176	2	46	0.0435	24	c.395 others(43): Show c.395+38377_395+38400dupCCTTCCTTCCTTCCTTCCTTCCTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20415410	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0124 a0001c0004t0002g0124	1	99	0.0101	24	c.396 others(43): Show c.396-52319_396-52318insAAAAAAAAAAAAAAAAAAAAAAAA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20417436	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0166 a0001c0002t0013g0166	1	140	0.0071	24	c.396 others(43): Show c.396-50294_396-50293insTATATATATATATATATATATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20417436	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	141	0.0142	24	c.396 others(43): Show c.396-50315_396-50314insGTATATATATATATATATATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472250	A A	ATATATCT others(17): Show ATATATCTATATATAGATATATATC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	203	0.0049	24	c.467 others(41): Show c.467+4431_467+4432insTCTATATATAGATATATATCTATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472278	A A	ATATATCG others(17): Show ATATATCGATATATAGATATATATC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0129 a0001c0001t0006g0129	1	139	0.0072	24	c.467 others(41): Show c.467+4460_467+4461insCGATATATAGATATATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472278	A A	ATATATCT others(17): Show ATATATCTATATATAGATATATATC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	139	0.0072	24	c.467 others(41): Show c.467+4460_467+4461insCTATATATAGATATATATCTATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472297	T T	TATATATC others(17): Show TATATATCTATATATCGATATATAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00738.hp1 others(32): Show HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp1 HG03688.hp1 NA18941.hp1 NA18983.hp1 NA18983.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0022 a0001c0002t0024 a0001c0002t0030 a0001c0002t0034 a0001c0002t0044 a0001c0002t0053 a0001c0002t0059 a0001c0002t0074 a0001c0003t0009 a0001c0003t0027 a0001c0003t0028 a0001c0006t0025 a0001c0007t0069 a0001c0016t0070	a0001c0001t0001g0108 a0001c0001t0002g0087 a0001c0001t0002g0088 others(32): Show a0001c0001t0001g0108 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0004g0204 a0001c0001t0004g0213 a0001c0001t0005g0063 a0001c0001t0005g0137 a0001c0001t0007g0168 a0001c0001t0011g0019 a0001c0001t0013g0167 a0001c0001t0018g0223 a0001c0001t0030g0188 a0001c0001t0031g0225 a0001c0001t0054g0157 a0001c0002t0001g0118 a0001c0002t0002g0125 a0001c0002t0009g0148 a0001c0002t0010g0215 a0001c0002t0013g0171 a0001c0002t0022g0067 a0001c0002t0022g0120 a0001c0002t0024g0009 a0001c0002t0030g0218 a0001c0002t0034g0190 a0001c0002t0044g0003 a0001c0002t0053g0160 a0001c0002t0059g0025 a0001c0002t0074g0169 a0001c0003t0009g0154 a0001c0003t0027g0028 a0001c0003t0028g0012 a0001c0006t0025g0026 a0001c0006t0025g0027 a0001c0007t0069g0197 a0001c0016t0070g0094	35	223	0.1570	24	c.467 others(41): Show c.467+4479_467+4480insTCTATATATCGATATATAGATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472297	T T	TATATATC others(17): Show TATATATCTATTTATCGATATATAG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0177 a0001c0002t0007g0177	1	189	0.0053	24	c.467 others(41): Show c.467+4479_467+4480insTCTATTTATCGATATATAGATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518557	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20752.hp1 HG01361.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0213 a0001c0001t0004g0204 a0001c0001t0004g0213	2	167	0.0120	24	c.105 others(41): Show c.1059-824_1059-823insGTGTATATATATATATATATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518557	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	166	0.0060	24	c.105 others(41): Show c.1059-824_1059-823insGTGTGTATATATATATATATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168884549	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02145.hp2 HG02976.hp2 others(4): Show HG02027.hp1 HG02145.hp2 HG02976.hp2 HG03195.hp2 NA19007.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0009 others(4): Show a0001c0004 a0001c0006 a0001c0009 a0001c0015 a0001c0050 a0002c0002 a0002c0008	a0001c0004t0005 a0001c0006t0009 a0001c0009t0003 others(4): Show a0001c0004t0005 a0001c0006t0009 a0001c0009t0003 a0001c0015t0016 a0001c0050t0020 a0002c0002t0018 a0002c0008t0002	a0001c0004t0005g0008 a0001c0006t0009g0113 a0001c0009t0003g0117 others(4): Show a0001c0004t0005g0008 a0001c0006t0009g0113 a0001c0009t0003g0117 a0001c0015t0016g0089 a0001c0050t0020g0003 a0002c0002t0018g0107 a0002c0008t0002g0020	7	11	0.6364	24	c.414 others(41): Show c.414-1237_414-1214dupATATATATATATATATATATATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGTGCAC others(17): Show GCGTGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 NA19012.hp2 HG01255.hp2 HG01934.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0041 a0001c0001 a0001c0041	a0001c0001t0001 a0001c0041t0001 a0001c0001t0001 a0001c0041t0001	a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0041t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0041t0001g0053	3	44	0.0682	24	c.414 others(43): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGTGTGCACG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168907979	T T	TATAGAGA others(17): Show TATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	34	0.0294	24	c.414 others(43): Show c.414-24644_414-24643insCTCTCTCTCTCTCTCTCTCTCTAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168907979	T T	TATATAGA others(17): Show TATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0035 a0001c0010t0035	a0001c0010t0035g0103 a0001c0010t0035g0103	1	34	0.0294	24	c.414 others(43): Show c.414-24644_414-24643insCTCTCTCTCTCTCTCTCTCTATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02027.hp1 HG02486.hp1 others(10): Show HG01496.hp1 HG02027.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02922.hp2 HG03017.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0006 a0001c0007 others(8): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0054 a0001c0058 a0002c0008 a0002c0018 a0004c0025 a0009c0024	a0001c0001t0001 a0001c0001t0024 a0001c0006t0002 others(9): Show a0001c0001t0001 a0001c0001t0024 a0001c0006t0002 a0001c0007t0003 a0001c0009t0003 a0001c0010t0008 a0001c0054t0002 a0001c0058t0009 a0002c0008t0002 a0002c0018t0007 a0004c0025t0006 a0009c0024t0028	a0001c0001t0001g0041 a0001c0001t0024g0069 a0001c0006t0002g0039 others(10): Show a0001c0001t0001g0041 a0001c0001t0024g0069 a0001c0006t0002g0039 a0001c0006t0002g0063 a0001c0007t0003g0124 a0001c0009t0003g0117 a0001c0010t0008g0071 a0001c0054t0002g0044 a0001c0058t0009g0097 a0002c0008t0002g0020 a0002c0018t0007g0100 a0004c0025t0006g0013 a0009c0024t0028g0076	13	22	0.5909	24	c.414 others(43): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972336	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18974.hp1 HG00639.hp2 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0002c0030 a0001c0016 a0002c0030	a0001c0016t0008 a0002c0030t0002 a0001c0016t0008 a0002c0030t0002	a0001c0016t0008g0080 a0002c0030t0002g0033 a0001c0016t0008g0080 a0002c0030t0002g0033	2	130	0.0154	24	c.414 others(43): Show c.414-89001_414-89000insACACACACACACACACACACACAC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp2 HG02897.hp2 others(5): Show HG00639.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03209.hp1 HG03516.hp2 HG04115.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0001c0032 others(4): Show a0001c0001 a0001c0013 a0001c0032 a0002c0002 a0002c0011 a0002c0053 a0003c0056	a0001c0001t0001 a0001c0013t0001 a0001c0032t0001 others(4): Show a0001c0001t0001 a0001c0013t0001 a0001c0032t0001 a0002c0002t0023 a0002c0011t0005 a0002c0053t0003 a0003c0056t0001	a0001c0001t0001g0083 a0001c0013t0001g0091 a0001c0032t0001g0048 others(5): Show a0001c0001t0001g0083 a0001c0013t0001g0091 a0001c0032t0001g0048 a0002c0002t0023g0086 a0002c0011t0005g0065 a0002c0011t0005g0075 a0002c0053t0003g0123 a0003c0056t0001g0078	8	11	0.7273	24	c.414 others(43): Show c.414-89025_414-89002dupCACACACACACACACACACACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168998702	T T	TCAAAACA others(17): Show TCAAAACAAAACAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01993.hp2 others(1): Show HG00639.hp2 HG01109.hp1 HG01993.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0001c0016 others(1): Show a0001c0003 a0001c0010 a0001c0016 a0002c0005	a0001c0003t0007 a0001c0010t0008 a0001c0016t0008 others(1): Show a0001c0003t0007 a0001c0010t0008 a0001c0016t0008 a0002c0005t0003	a0001c0003t0007g0098 a0001c0010t0008g0068 a0001c0016t0008g0080 others(1): Show a0001c0003t0007g0098 a0001c0010t0008g0068 a0001c0016t0008g0080 a0002c0005t0003g0114	4	89	0.0449	24	c.414 others(45): Show c.414-115367_414-115366insTTTTGTTTTGTTTGTTTTGTTTTG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169229642	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0011 a0002c0019t0001g0011	1	52	0.0192	24	c.341 others(43): Show c.341+15039_341+15062dupGAGAGAGAGAGAGAGAGAGAGAGA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	3/35			chr5	TogoVar
SLITRK3_chr3_165181720_165201384	165196875	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp2 NA19079.hp1 NA18959.hp1 NA18959.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0010 a0002c0002t0001g0004 a0001c0001t0002g0001 a0001c0001t0002g0010 a0002c0002t0001g0004	3	412	0.0073	24	c.-13 others(35): Show c.-1318_-1317insCAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		492		chr3	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01070.hp2 others(21): Show HG00544.hp1 HG00609.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01261.hp1 HG01433.hp2 HG01978.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02273.hp2 HG02683.hp2 HG03540.hp1 HG03710.hp1 HG04204.hp2 NA18945.hp1 NA18947.hp1 NA18971.hp1 NA18981.hp2 NA18995.hp2 NA19059.hp1 NA19068.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 a0001c0003t0015 a0001c0003t0043 a0002c0002t0001 a0002c0002t0002 a0002c0010t0001	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0010 others(12): Show a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0045 a0001c0001t0004g0012 a0001c0001t0009g0023 a0001c0003t0005g0013 a0001c0003t0007g0032 a0001c0003t0007g0131 a0001c0003t0014g0034 a0001c0003t0015g0139 a0001c0003t0043g0142 a0002c0002t0001g0008 a0002c0002t0002g0024 a0002c0010t0001g0072	24	76	0.3158	24	c.-13 others(35): Show c.-1363_-1340dupGAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLMAP_chr3_57751309_57935003	57869630	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18980.hp1 NA18990.hp1 others(2): Show HG02647.hp2 NA18980.hp1 NA18990.hp1 NA18993.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0068 a0001c0002t0001g0199	5	67	0.0746	24	c.123 others(43): Show c.1238-1999_1238-1976dupTATATATATATATATATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57885771	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0112 a0001c0001t0012g0112	1	35	0.0286	24	c.130 others(43): Show c.1301-4263_1301-4240dupTTTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG03491.hp2 others(3): Show HG00639.hp2 HG01071.hp1 HG03491.hp2 HG03540.hp1 NA18961.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0001g0218 others(3): Show a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0233 a0001c0002t0001g0238	6	125	0.0480	24	c.150 others(43): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLURP2_chr8_142759338_142774828	142768155	G G	GAGGAAGG others(17): Show GAGGAAGGGAGGGAGGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	444	0.0023	24	c.52+ others(39): Show c.52+1576_52+1599dupTCCTCTCCTCCTCCCTCCCTTCCT	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding	1/2			chr8	TogoVar
SLX4IP_chr20_10430305_10633030	10540096	T T	TTCCTTTC others(17): Show TTCCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18970.hp1 HG03491.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0065 a0001c0001t0009g0109 a0001c0001t0007g0065 a0001c0001t0009g0109	2	82	0.0244	24	c.28- others(41): Show c.28-16134_28-16133insCCTTTCCTTCCTTCCTTCCTTCCT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850382	T T	TATTATAC others(17): Show TATTATACATATTATGTATAATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0002 a0001c0001t0027g0002	1	126	0.0079	24	c.784 others(39): Show c.784+891_784+892insTATATTATACATAATATGTATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850581	A A	AATATATA others(17): Show AATATATATTATGTATAATATATGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0146 a0001c0001t0152g0146	1	304	0.0033	24	c.784 others(39): Show c.784+692_784+693insACATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67113076	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	176	0.0057	24	c.206 others(43): Show c.206+46735_206+46736insATATATATATATATATATATATAT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182994	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	290	0.0034	24	c.871 others(41): Show c.871+1542_871+1543insTATATATATATATATATATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182998	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	237	0.0042	24	c.871 others(41): Show c.871+1546_871+1547insTATATATATATATATATATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD4_chr18_51025213_51090042	51042287	G G	GCCTCCCT others(17): Show GCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0031 a0001c0001t0043g0031	1	185	0.0054	24	c.-12 others(43): Show c.-127-4620_-127-4619insCTCCCTCCCTCCCTCCCTCCCTCC	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136132699	G G	GCCGGCGC others(17): Show GCCGGCGCGGAGCCCGGCGCGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03579.hp2 HG01496.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0014g0130 a0001c0001t0014g0131	2	292	0.0068	24	c.-50 others(33): Show c.-508_-507insCCGGCGCGGAGCCCGGCGCGGAGC	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding		145		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66705905	T T	TGGGTCAG others(17): Show TGGGTCAGAGGAGAGGGAGCCAGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03486.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0312 a0001c0001t0010g0310 a0001c0001t0010g0311 others(1): Show a0001c0001t0001g0312 a0001c0001t0010g0310 a0001c0001t0010g0311 a0001c0001t0010g0313	4	334	0.0120	24	c.817 others(41): Show c.817+1855_817+1878dupGGGTCAGAGGAGAGGGAGCCAGCC	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD6_chr15_66697236_66787849	66711803	C C	CAGGGCTG others(17): Show CAGGGCTGGAGGGCTGGAGGGCTGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0019 a0001c0001t0027g0019	1	305	0.0033	24	c.874 others(38): Show c.874+84_874+107dupCTGGAGGGCTGGAGGGCTGGAGGG	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp2 HG01891.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0295 a0001c0001t0001g0207 a0001c0001t0001g0295	2	85	0.0235	24	c.743 others(41): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03471.hp2 HG03540.hp2 others(1): Show HG00438.hp2 HG03471.hp2 HG03540.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0267 a0001c0001t0002g0255 a0001c0001t0003g0167 others(1): Show a0001c0001t0001g0267 a0001c0001t0002g0255 a0001c0001t0003g0167 a0001c0001t0003g0221	4	87	0.0460	24	c.743 others(41): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGTGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCAC others(17): Show TCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18957.hp2 NA18969.hp2 HG02717.hp2 NA18957.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0202 a0001c0001t0002g0240 a0001c0001t0002g0254 a0001c0001t0001g0202 a0001c0001t0002g0240 a0001c0001t0002g0254	3	86	0.0349	24	c.743 others(41): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(17): Show TCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19068.hp1 HG03688.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0220 a0001c0001t0001g0187 a0001c0001t0001g0220	2	85	0.0235	24	c.743 others(41): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGAGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAP1_chr6_70662883_70867003	70855050	T T	TCATATAC others(17): Show TCATATACATATACATATACATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp1 HG01255.hp1 others(14): Show HG00408.hp2 HG00735.hp1 HG01255.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02132.hp1 HG02523.hp1 HG03130.hp1 HG03471.hp2 HG03704.hp2 NA18967.hp2 NA18975.hp1 NA19000.hp1 NA19070.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0164 others(14): Show a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0003g0057 a0001c0001t0004g0285 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0002g0235 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0248 a0002c0002t0002g0268 a0002c0002t0002g0273 a0002c0002t0002g0299	17	60	0.2833	24	c.790 others(41): Show c.790-1771_790-1748dupATATACATATACATATACATATAC	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0313 a0002c0005t0001g0313	1	187	0.0053	24	c.425 others(43): Show c.4254-5368_4254-5367insTTTTTTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 NA19079.hp2 HG02698.hp1 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0011t0001 a0001c0003t0001 a0001c0011t0001	a0001c0003t0001g0253 a0001c0011t0001g0276 a0001c0003t0001g0253 a0001c0011t0001g0276	2	178	0.0112	24	c.28 others(35): Show c.2853_*2854insTTTTTTTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar

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