Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SACS_chr13_23323830_23438702	23348944	TAATTAGA others(12): Show TAATTAGAACAGAAGAGGGC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0203 a0001c0006t0001g0203	1	378	0.0027	-19	c.218 others(38): Show c.2185+4822_2185+4840delGCCCTCTTCTGTTCTAATT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	9/9			chr13	TogoVar
SAFB2_chr19_5581999_5627776	5606025	AAGGAGCA others(12): Show AAGGAGCAGAGGGAACAATC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	350	0.0029	-19	c.129 others(38): Show c.1297-1108_1297-1090delGATTGTTCCCTCTGCTCCT	SAFB2	ENSG00000130254.12	transcript	ENST00000252542.9	protein_coding	9/20			chr19	TogoVar
SAMD10_chr20_63969116_63984642	63973669	AGAGAGAC others(12): Show AGAGAGACAGAGGGAGATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01358.hp2 others(6): Show HG01123.hp2 HG01167.hp1 HG01358.hp2 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG02109.hp1 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012	a0001c0002t0007g0017 a0001c0002t0007g0047 a0001c0002t0007g0049 others(5): Show a0001c0002t0007g0017 a0001c0002t0007g0047 a0001c0002t0007g0049 a0001c0002t0007g0051 a0001c0002t0008g0050 a0001c0002t0008g0052 a0001c0002t0008g0053 a0001c0002t0012g0054	9	342	0.0263	-19	c.18 others(30): Show c.1822_*1840delAAATCTCCCTCTGTCTCTC	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		446		chr20	TogoVar
SAMD14_chr17_50105040_50135160	50131534	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02004.hp1 HG02970.hp1 others(3): Show HG01257.hp2 HG02004.hp1 HG02970.hp1 NA18955.hp1 NA19003.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014	a0001c0001t0003g0119 a0001c0001t0003g0142 a0001c0001t0003g0145 others(3): Show a0001c0001t0003g0119 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0004g0001 a0001c0001t0004g0110 a0001c0001t0014g0096	6	398	0.0151	-19	c.-20 others(30): Show c.-2049_-2031delTTTTTTTTTTTTTTTTTTT	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding		1375		chr17	TogoVar
SAMD15_chr14_77372379_77397163	77372907	TATATATA others(12): Show TATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	314	0.0032	-19	c.-45 others(30): Show c.-4511_-4493delATATATATATATATATATA	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4471		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(12): Show ATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	314	0.0032	-19	c.-44 others(30): Show c.-4484_-4466delTATATATATATATATATAT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4444		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372936	ATATATAT others(12): Show ATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0032 a0003c0003t0003g0032	1	314	0.0032	-19	c.-44 others(30): Show c.-4482_-4464delTATATATATATATATATTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4442		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372938	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02818.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0029 a0002c0002t0005g0087 a0002c0002t0005g0029 a0002c0002t0005g0087	2	314	0.0064	-19	c.-44 others(30): Show c.-4480_-4462delTATATATATATATATTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4440		chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54623483	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp2 HG02055.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0069 a0001c0006t0042 a0001c0001t0069 a0001c0006t0042	a0001c0001t0069g0217 a0001c0006t0042g0023 a0001c0001t0069g0217 a0001c0006t0042g0023	2	262	0.0076	-19	c.196 others(38): Show c.196+55383_196+55401delAAAAAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54727166	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02922.hp1 NA18984.hp2 HG01433.hp2 HG02922.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0036 a0001c0001t0004g0018 a0001c0001t0004g0116 a0001c0001t0001g0036 a0001c0001t0004g0018 a0001c0001t0004g0116	3	262	0.0115	-19	c.716 others(36): Show c.716-9835_716-9817delTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD7_chr3_169906572_169944175	169939988	CCCTGTGG others(12): Show CCCTGTGGAGAGCCCCACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0001 a0011c0011t0001g0001	1	416	0.0024	-19	c.14 others(30): Show c.1483_*1501delCCTGTGGAGAGCCCCACAT	SAMD7	ENSG00000187033.9	transcript	ENST00000335556.7	protein_coding		814		chr3	TogoVar
SAMD8_chr10_75106656_75187123	75123813	GAGAGTAG others(12): Show GAGAGTAGCTACTCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18986.hp1 NA18998.hp1 others(1): Show HG02080.hp2 NA18986.hp1 NA18998.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0266 a0001c0001t0010g0267 a0001c0001t0010g0268 others(1): Show a0001c0001t0003g0266 a0001c0001t0010g0267 a0001c0001t0010g0268 a0001c0001t0010g0269	4	324	0.0124	-19	c.-16 others(38): Show c.-16+12120_-16+12138delACTCAGCCTCAGAGTAGCT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAP130_chr2_127936222_128033059	128003957	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0129	1	350	0.0029	-19	c.870 others(36): Show c.870-3522_870-3504delAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP25_chr7_100567228_100578900	100570843	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG02965.hp2 others(9): Show HG01243.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0002c0002t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0004 a0002c0002t0001g0003	12	386	0.0311	-19	c.14 others(30): Show c.1425_*1443delTTTTTTTTTTTTTTTTTTT	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		1384		chr7	TogoVar
SAR1B_chr5_134596149_134637828	134598535	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03453.hp2 HG02145.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0190 a0001c0001t0002g0042 a0001c0001t0002g0190	2	322	0.0062	-19	c.83 others(30): Show c.8396_*8414delAAAAAAAAAAAAAAAAAAA	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding		2613		chr5	TogoVar
SAR1B_chr5_134596149_134637828	134612641	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02280.hp1 others(7): Show HG01069.hp1 HG01071.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02896.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0227 a0001c0001t0001g0243 others(6): Show a0001c0001t0001g0092 a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0002g0008 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0155	10	322	0.0311	-19	c.244 others(32): Show c.244+31_244+49delTTTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SARDH_chr9_133658560_133743352	133661783	TGTAGGCA others(12): Show TGTAGGCACTTTCAAAACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0187 a0001c0016t0003g0187	1	262	0.0038	-19	c.20 others(30): Show c.2087_*2105delCTGTTTTGAAAGTGCCTAC	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding		1776		chr9	TogoVar
SARDH_chr9_133658560_133743352	133667657	TCCCTGTG others(12): Show TCCCTGTGCAATGGGTTATC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0221 a0002c0004t0004g0221	1	262	0.0038	-19	c.249 others(36): Show c.2496-806_2496-788delGATAACCCATTGCACAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109221994	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	402	0.0025	-19	c.137 others(36): Show c.137-1982_137-1964delATATATATATATATATTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109222002	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00738.hp1 others(10): Show HG00140.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01255.hp1 HG01517.hp1 HG03669.hp2 NA18960.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0279 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0355	13	402	0.0323	-19	c.137 others(36): Show c.137-1974_137-1956delATATATATTTTTTTTTTTT	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148446088	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01884.hp1 others(14): Show HG00639.hp1 HG01109.hp1 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 NA18982.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0002c0002t0004 a0002c0002t0015 a0004c0012t0002	a0001c0001t0001g0116 a0001c0001t0005g0315 a0001c0001t0005g0317 others(14): Show a0001c0001t0001g0116 a0001c0001t0005g0315 a0001c0001t0005g0317 a0001c0001t0008g0063 a0001c0003t0002g0185 a0001c0003t0005g0272 a0001c0003t0005g0274 a0001c0003t0007g0273 a0001c0003t0007g0285 a0001c0003t0012g0280 a0001c0003t0014g0087 a0002c0002t0004g0047 a0002c0002t0004g0281 a0002c0002t0004g0282 a0002c0002t0015g0312 a0004c0012t0002g0088 a0004c0012t0002g0283	17	322	0.0528	-19	c.386 others(36): Show c.386+5701_386+5719delTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789263	AATCCATC others(12): Show AATCCATCCACCTCAAAGCT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02258.hp1 others(5): Show HG01081.hp2 HG02055.hp1 HG02258.hp1 HG03041.hp1 HG03486.hp2 HG03516.hp2 NA19030.hp2 NA20300.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0002 a0001c0001 a0004c0004 a0005c0002	a0001c0001t0007 a0001c0001t0010 a0004c0004t0005 others(1): Show a0001c0001t0007 a0001c0001t0010 a0004c0004t0005 a0005c0002t0005	a0001c0001t0007g0068 a0001c0001t0007g0097 a0001c0001t0007g0104 others(5): Show a0001c0001t0007g0068 a0001c0001t0007g0097 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0172 a0001c0001t0010g0067 a0004c0004t0005g0192 a0005c0002t0005g0191	8	307	0.0261	-19	c.300 others(34): Show c.300+687_300+705delATCCATCCACCTCAAAGCT	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7			chrX	TogoVar
SAT1_chrX_23778173_23791210	23781874	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	330	0.0030	-19	c.-14 others(30): Show c.-1477_-1459delAAAAAAAAAAAAAAAAAAA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		1298		chrX	TogoVar
SATB2_chr2_199264505_199462939	199320929	GCATATTT others(12): Show GCATATTTGAACTCGGCCTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG02976.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0024 a0001c0001t0012g0023 a0001c0001t0012g0024	2	254	0.0079	-19	c.154 others(38): Show c.1542+2855_1542+2873delAAGGCCGAGTTCAAATATG	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	9/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85220644	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp1 HG01934.hp1 others(25): Show HG00280.hp1 HG01255.hp1 HG01934.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02723.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp1 NA18941.hp1 NA18950.hp1 NA18960.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA19000.hp1 NA19001.hp2 NA19060.hp1 NA19063.hp1 NA19076.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 a0005c0005t0002	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(25): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0004g0047 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0002g0027 a0002c0002t0002g0029 a0004c0004t0002g0042 a0005c0005t0002g0043 a0005c0005t0002g0044	28	232	0.1207	-19	c.-31 others(38): Show c.-313+3542_-313+3560delTTTTTTTTTTTTTTTTTTT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	9920889	ACCTACCC others(12): Show ACCTACCCTTAAGGGTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02809.hp2 others(3): Show HG01884.hp1 HG02486.hp2 HG02809.hp2 HG03139.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0012t0005	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 others(3): Show a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0005g0187 a0001c0001t0007g0188 a0001c0012t0005g0194	6	224	0.0268	-19	c.186 others(40): Show c.1861-24897_1861-24879delAGGAACCCTTAAGGGTAGG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	16/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9967974	TATATATA others(12): Show TATATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18944.hp1 NA18960.hp2 others(5): Show HG02559.hp1 NA18944.hp1 NA18960.hp2 NA18969.hp1 NA18986.hp1 NA19005.hp2 NA19066.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0019 a0001c0001 a0001c0007 a0001c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0007t0016 a0001c0019t0002	a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0003g0100 others(5): Show a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0003g0100 a0001c0001t0003g0110 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0007t0016g0180 a0001c0019t0002g0090	8	224	0.0357	-19	c.160 others(36): Show c.1600+348_1600+366delTTTATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10204539	TGAGGCAG others(12): Show TGAGGCAGGAGAATGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0001c0018 a0002c0002 a0003c0004 a0004c0006 a0005c0010 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0005t0001 a0001c0005t0009 a0001c0012t0005 a0001c0018t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0004c0006t0004 a0005c0010t0001 a0007c0009t0001	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 others(81): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0161 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0005g0187 a0001c0001t0005g0192 a0001c0001t0005g0202 a0001c0001t0007g0188 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0001t0012g0001 a0001c0001t0018g0222 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0019 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0184 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0005g0162 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0204 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0009g0198 a0001c0005t0009g0203 a0001c0012t0005g0194 a0001c0018t0001g0050 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0003g0036 a0002c0002t0004g0010 a0002c0002t0004g0014 a0002c0002t0004g0020 a0002c0002t0004g0215 a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0022 a0003c0004t0003g0026 a0003c0004t0003g0028 a0003c0004t0003g0032 a0003c0004t0003g0052 a0004c0006t0004g0213 a0004c0006t0004g0217 a0005c0010t0001g0169 a0005c0010t0001g0183 a0007c0009t0001g0197 a0007c0009t0001g0199	84	224	0.3750	-19	c.56- others(36): Show c.56-10571_56-10553delCACGCCATTCTCCTGCCTC	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28308450	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp2 NA18966.hp2 others(6): Show NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18986.hp1 NA18989.hp2 NA18995.hp2 NA19007.hp1 NA19056.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0011 a0001c0001t0025 a0001c0001t0037 others(6): Show a0001c0001t0011 a0001c0001t0025 a0001c0001t0037 a0001c0001t0078 a0001c0001t0093 a0001c0001t0102 a0001c0001t0115 a0001c0001t0121 a0001c0011t0037	a0001c0001t0011g0255 a0001c0001t0025g0004 a0001c0001t0037g0004 others(6): Show a0001c0001t0011g0255 a0001c0001t0025g0004 a0001c0001t0037g0004 a0001c0001t0078g0004 a0001c0001t0093g0254 a0001c0001t0102g0004 a0001c0001t0115g0004 a0001c0001t0121g0194 a0001c0011t0037g0004	9	384	0.0234	-19	c.-7- others(34): Show c.-7-8919_-7-8901delTTTTTTTTTTTTTTTTTTT	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322918	CGCTCTCT others(12): Show CGCTCTCTCTCTCCCTCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0164 a0001c0001t0164	a0001c0001t0164g0022 a0001c0001t0164g0022	1	384	0.0026	-19	c.19 others(30): Show c.1998_*2016delGCTCTCTCTCTCCCTCTCT	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	1998		chr16	TogoVar
SBK2_chr19_55523611_55542133	55533659	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0064 a0005c0010t0006g0064	1	434	0.0023	-19	c.254 others(36): Show c.254-2333_254-2315delTTTTTTTTTTTTTTTTTTT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1134138	CCACAGCT others(12): Show CCACAGCTCACGGGTGGACT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01099.hp2 others(34): Show HG00408.hp2 HG00438.hp2 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp2 HG03486.hp1 HG03688.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0010 a0012	a0001c0005 a0001c0006 a0001c0007 others(15): Show a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0025 a0001c0026 a0001c0033 a0001c0035 a0001c0037 a0001c0038 a0001c0041 a0003c0014 a0004c0012 a0010c0019 a0012c0034	a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 others(16): Show a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0015t0001 a0001c0022t0001 a0001c0025t0001 a0001c0026t0001 a0001c0033t0001 a0001c0035t0001 a0001c0037t0001 a0001c0038t0001 a0001c0041t0001 a0003c0014t0001 a0004c0012t0002 a0004c0012t0007 a0010c0019t0001 a0012c0034t0001	a0001c0005t0001g0024 a0001c0005t0001g0045 a0001c0005t0001g0051 others(34): Show a0001c0005t0001g0024 a0001c0005t0001g0045 a0001c0005t0001g0051 a0001c0005t0001g0068 a0001c0005t0001g0088 a0001c0005t0001g0104 a0001c0005t0001g0117 a0001c0005t0001g0123 a0001c0005t0001g0135 a0001c0005t0001g0160 a0001c0006t0001g0089 a0001c0007t0001g0182 a0001c0007t0001g0185 a0001c0009t0001g0003 a0001c0009t0001g0022 a0001c0009t0001g0035 a0001c0009t0001g0193 a0001c0011t0001g0073 a0001c0011t0001g0112 a0001c0015t0001g0017 a0001c0015t0001g0116 a0001c0022t0001g0028 a0001c0025t0001g0102 a0001c0026t0001g0179 a0001c0033t0001g0015 a0001c0035t0001g0156 a0001c0037t0001g0148 a0001c0038t0001g0158 a0001c0041t0001g0153 a0003c0014t0001g0002 a0003c0014t0001g0067 a0003c0014t0001g0098 a0004c0012t0002g0005 a0004c0012t0002g0178 a0004c0012t0007g0195 a0010c0019t0001g0099 a0012c0034t0001g0196	37	203	0.1823	-19	c.280 others(36): Show c.280-6392_280-6374delAGTCCACCCGTGAGCTGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCAF4_chr21_31666000_31737118	31735263	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA19074.hp1 NA18963.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0099 a0001c0001t0001g0059 a0001c0001t0001g0099	2	352	0.0057	-19	c.-35 others(30): Show c.-3590_-3572delTTTTTTTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding		3146		chr21	TogoVar
SCAF8_chr6_154728416_154839221	154790489	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	282	0.0036	-19	c.322 others(36): Show c.322-2313_322-2295delTTTTTTTTTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125004752	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	306	0.0033	-19	c.862 others(36): Show c.862-1201_862-1183delTATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004760	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03942.hp1 NA18942.hp1 others(2): Show HG02056.hp1 HG03942.hp1 NA18942.hp1 NA18954.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0058 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0058 a0001c0001t0061	a0001c0001t0002g0019 a0001c0001t0011g0103 a0001c0001t0011g0107 others(2): Show a0001c0001t0002g0019 a0001c0001t0011g0103 a0001c0001t0011g0107 a0001c0001t0058g0108 a0001c0001t0061g0104	5	306	0.0163	-19	c.862 others(36): Show c.862-1209_862-1191delTATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125004773	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0139 a0001c0001t0036g0139	1	306	0.0033	-19	c.862 others(36): Show c.862-1222_862-1204delAAAAAAAAAAAAATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125092131	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 HG01109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0043 a0001c0001t0027g0044 a0001c0001t0027g0043 a0001c0001t0027g0044	2	306	0.0065	-19	c.99- others(36): Show c.99-36143_99-36125delTTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106119	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG03225.hp1 HG01884.hp2 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0047 a0001c0001t0015 a0001c0001t0047	a0001c0001t0015g0200 a0001c0001t0015g0201 a0001c0001t0047g0202 a0001c0001t0015g0200 a0001c0001t0015g0201 a0001c0001t0047g0202	3	306	0.0098	-19	c.98+ others(36): Show c.98+36495_98+36513delATATATATATATATATTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106121	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0203 a0001c0001t0015g0203	1	306	0.0033	-19	c.98+ others(36): Show c.98+36493_98+36511delATATATATATATATATATT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78469917	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(56): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00609.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01192.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02155.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18973.hp2 NA18981.hp2 NA18990.hp1 NA18991.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA20129.hp2 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0003c0004t0001 a0004c0005t0020	a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0184 others(56): Show a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0073 a0001c0001t0002g0116 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0008g0179 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0008g0262 a0001c0001t0020g0328 a0001c0001t0035g0251 a0001c0001t0036g0329 a0001c0001t0037g0213 a0001c0001t0041g0224 a0003c0004t0001g0229 a0004c0005t0020g0330	59	332	0.1777	-19	c.853 others(36): Show c.853-5584_853-5566delAAAAAAAAAAAAACAACAA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874652	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01993.hp2 HG02273.hp2 others(5): Show HG01975.hp1 HG01993.hp2 HG02273.hp2 HG03831.hp2 NA18964.hp2 NA18975.hp1 NA19057.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0007 a0002c0002t0013 others(2): Show a0001c0001t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0018 a0002c0002t0021	a0001c0001t0006g0039 a0002c0002t0007g0029 a0002c0002t0007g0033 others(5): Show a0001c0001t0006g0039 a0002c0002t0007g0029 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0013g0032 a0002c0002t0018g0037 a0002c0002t0018g0038 a0002c0002t0021g0040	8	386	0.0207	-19	c.-14 others(30): Show c.-1416_-1398delATATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1288		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155258318	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	375	0.0027	-19	c.517 others(34): Show c.517+489_517+507delAAAAAAAAAAAAAAAAAAA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding	5/8			chr1	TogoVar
SCAPER_chr15_76342904_76910340	76373014	TCTTTTTC others(12): Show TCTTTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18945.hp1 NA18957.hp2 others(3): Show HG02027.hp2 NA18945.hp1 NA18957.hp2 NA18963.hp1 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 others(3): Show a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0153	6	312	0.0192	-19	c.385 others(38): Show c.3855+3129_3855+3147delGAAAGAAAGAAAGAAAAAG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	29/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667625	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02723.hp1 others(5): Show HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02896.hp1 HG03098.hp2 HG03130.hp1 HG03579.hp1 NA19043.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0011c0019 a0001c0004 a0011c0019	a0001c0004t0001 a0001c0004t0009 a0011c0019t0001 a0001c0004t0001 a0001c0004t0009 a0011c0019t0001	a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 others(5): Show a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0161 a0001c0004t0009g0119 a0011c0019t0001g0127	8	312	0.0256	-19	c.250 others(38): Show c.2509-1855_2509-1837delTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76742466	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02109.hp1 HG01243.hp1 HG01255.hp2 HG02109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169 a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169	3	312	0.0096	-19	c.186 others(38): Show c.1867-9101_1867-9083delTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	15/31			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27865578	TATATATA others(12): Show TATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0151 a0001c0001t0014g0151	1	314	0.0032	-19	c.63 others(30): Show c.6337_*6355delTATATATATATATATATAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4304		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865783	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0291 a0001c0008t0008g0291	1	314	0.0032	-19	c.61 others(30): Show c.6132_*6150delAAAAAAAAAAAAAAATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4099		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865785	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG02683.hp1 others(1): Show HG00140.hp2 HG00323.hp1 HG02683.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0005 a0001c0002t0005 a0002c0006t0005 others(1): Show a0001c0001t0005 a0001c0002t0005 a0002c0006t0005 a0002c0006t0007	a0001c0001t0005g0225 a0001c0002t0005g0202 a0002c0006t0005g0173 others(1): Show a0001c0001t0005g0225 a0001c0002t0005g0202 a0002c0006t0005g0173 a0002c0006t0007g0083	4	314	0.0127	-19	c.61 others(30): Show c.6130_*6148delAAAAAAAAAAAAAAAAATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4097		chr8	TogoVar
SCARF1_chr17_1628858_1650732	1643254	TCCGCCCC others(12): Show TCCGCCCCGCCCACCGGTGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01243.hp2 others(43): Show HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18946.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19006.hp2 NA19009.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0014 a0018 a0020 a0031	a0001c0001 a0001c0010 a0001c0032 others(11): Show a0001c0001 a0001c0010 a0001c0032 a0002c0002 a0003c0003 a0005c0005 a0006c0044 a0007c0007 a0009c0011 a0010c0009 a0014c0017 a0018c0033 a0020c0037 a0031c0026	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0001c0032t0001 a0002c0002t0002 a0002c0002t0007 a0003c0003t0002 a0005c0005t0002 a0005c0005t0003 a0006c0044t0001 a0007c0007t0004 a0009c0011t0002 a0010c0009t0002 a0014c0017t0001 a0018c0033t0001 a0020c0037t0001 a0031c0026t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0032 others(34): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0002g0119 a0001c0010t0001g0018 a0001c0032t0001g0128 a0002c0002t0002g0112 a0002c0002t0007g0108 a0003c0003t0002g0104 a0003c0003t0002g0125 a0003c0003t0002g0126 a0005c0005t0002g0106 a0005c0005t0003g0121 a0006c0044t0001g0229 a0007c0007t0004g0034 a0007c0007t0004g0221 a0007c0007t0004g0222 a0007c0007t0004g0223 a0007c0007t0004g0224 a0009c0011t0002g0124 a0010c0009t0002g0123 a0014c0017t0001g0105 a0018c0033t0001g0111 a0020c0037t0001g0129 a0031c0026t0001g0107	46	401	0.1147	-19	c.791 others(34): Show c.791+169_791+187delGCACCGGTGGGCGGGGCGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar

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