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
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(21): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00609.hp1 others(22): Show HG00280.hp2 HG00423.hp1 HG00609.hp1 HG00733.hp2 HG01516.hp2 HG02280.hp2 HG02602.hp2 HG02738.hp1 HG03491.hp2 HG04228.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18973.hp2 NA18978.hp2 NA18982.hp2 NA18999.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0129 a0001c0001t0002g0157 a0001c0001t0002g0158 others(22): Show a0001c0001t0002g0129 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0002g0306 a0001c0001t0002g0313 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0330 a0001c0001t0008g0136	25	44	0.5682	28	c.25 others(39): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG01975.hp2 others(7): Show HG00642.hp2 HG01891.hp1 HG01975.hp2 HG02132.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0031 a0001c0001t0001g0271 a0001c0001t0001g0282 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0003g0004 a0001c0001t0003g0257 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0005g0128 a0001c0001t0007g0242	10	29	0.3448	28	c.25 others(39): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(21): Show GCGCGCGCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	362	0.0028	28	c.-89 others(37): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGCGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0231 a0001c0001t0093g0231	1	24	0.0417	28	c.29 others(39): Show c.2928_*2929insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0204 a0001c0007t0002g0204	1	13	0.0769	28	c.995 others(43): Show c.995-649_995-648insAAAATATATATATATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02738.hp2 HG02109.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0197 a0001c0001t0004g0207 a0001c0001t0002g0197 a0001c0001t0004g0207	2	14	0.1429	28	c.995 others(43): Show c.995-649_995-648insAAAAAAAAAAAAAATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03239.hp2 HG02071.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0085 a0001c0001t0004g0209 a0001c0001t0002g0085 a0001c0001t0004g0209	2	14	0.1429	28	c.995 others(43): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(21): Show ATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19075.hp2 NA19067.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0158 a0001c0001t0002g0122 a0001c0001t0002g0158	2	14	0.1429	28	c.995 others(43): Show c.995-649_995-648insAAAAAAAAAAAAAAAAAAAATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668991	T T	TCTCCCCT others(21): Show TCTCCCCTTACCCTCCCTCTCCCCTCATC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0172 a0001c0016t0002g0172	1	260	0.0038	28	c.249 others(47): Show c.2495+1592_2495+1593insGATGAGGGGAGAGGGAGGGTAAGGGG AG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726368	A A	ATAATAAT others(21): Show ATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0002 a0003c0037t0002	a0003c0037t0002g0126 a0003c0037t0002g0126	1	144	0.0069	28	c.915 others(45): Show c.915+3396_915+3397insATTATTATTATTATTATTATTATTATTA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01978.hp1 HG02071.hp2 others(3): Show HG01074.hp1 HG01978.hp1 HG02071.hp2 HG03669.hp1 NA18612.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0240 a0001c0001t0001g0242 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0241	6	23	0.2609	28	c.137 others(45): Show c.137-4689_137-4688insTATATATATATATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(21): Show GTGCGCACGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01928.hp1 HG02273.hp2 others(2): Show HG01243.hp2 HG01928.hp1 HG02273.hp2 NA18747.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0003 a0002c0002t0019 a0001c0001t0009 a0002c0002t0003 a0002c0002t0019	a0001c0001t0009g0166 a0002c0002t0003g0119 a0002c0002t0003g0120 others(2): Show a0001c0001t0009g0166 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0319 a0002c0002t0019g0145	5	245	0.0204	28	c.157 others(47): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(21): Show GTGCGCACGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	241	0.0041	28	c.157 others(47): Show c.157-21366_157-21365insTGCGCACGCGCACACACACACACACA CA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02027.hp2 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0299 a0002c0002t0003g0019 a0002c0002t0001g0299 a0002c0002t0003g0019	2	120	0.0167	28	c.157 others(45): Show c.157-2469_157-2442dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148417582	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp1 HG02647.hp2 others(7): Show HG02015.hp1 HG02523.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0015 others(2): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0003t0012 a0001c0015t0007 others(3): Show a0001c0001t0001 a0001c0003t0012 a0001c0015t0007 a0002c0002t0008 a0002c0002t0015 a0003c0008t0004	a0001c0001t0001g0178 a0001c0003t0012g0052 a0001c0003t0012g0100 others(7): Show a0001c0001t0001g0178 a0001c0003t0012g0052 a0001c0003t0012g0100 a0001c0003t0012g0102 a0001c0003t0012g0214 a0001c0015t0007g0090 a0002c0002t0008g0268 a0002c0002t0008g0287 a0002c0002t0015g0312 a0003c0008t0004g0081	10	140	0.0714	28	c.286 others(47): Show c.286-22575_286-22574insTAAATAAATAAATAAATAAATAAATA AA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421146	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0134 a0002c0005t0006g0134	1	204	0.0049	28	c.286 others(47): Show c.286-19035_286-19034insGAAGGAAGGAAGAAAGAAAGAAAGAA AG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(21): Show CTTTTTCTTTTTTTTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02040.hp1 HG02895.hp2 HG01243.hp2 HG02040.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0002c0002t0029 a0001c0001t0005 a0001c0001t0009 a0002c0002t0029	a0001c0001t0005g0317 a0001c0001t0009g0166 a0002c0002t0029g0179 a0001c0001t0005g0317 a0001c0001t0009g0166 a0002c0002t0029g0179	3	120	0.0250	28	c.386 others(45): Show c.386+8676_386+8677insCTTTTTTTTTTTCTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18906.hp2 NA19011.hp2 HG03017.hp2 NA18906.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0005 a0002c0002t0003 a0002c0004t0011 a0001c0001t0005 a0002c0002t0003 a0002c0004t0011	a0001c0001t0005g0224 a0002c0002t0003g0180 a0002c0004t0011g0281 a0001c0001t0005g0224 a0002c0002t0003g0180 a0002c0004t0011g0281	3	120	0.0250	28	c.386 others(45): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02015.hp1 HG02523.hp1 others(7): Show HG00544.hp1 HG02015.hp1 HG02523.hp1 HG02738.hp1 HG02809.hp2 HG03688.hp1 NA18942.hp1 NA18961.hp1 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0101 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0039 a0001c0001t0002g0064	10	218	0.0459	28	c.300 others(43): Show c.300+531_300+532insGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19057.hp2 HG00642.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0003g0001 a0001c0001t0001g0009 a0001c0001t0003g0001	2	93	0.0215	28	c.300 others(43): Show c.300+562_300+589dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAAGAGA others(21): Show AAAAGAGAAAGAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp1 HG01243.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	93	0.0215	28	c.300 others(43): Show c.300+537_300+538insGAAAGAAAGAAAGAAAAAGAAAGAAAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(21): Show ATATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	105	0.0095	28	c.-28 others(39): Show c.-2850_-2849insTATATATATATATAATATATATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SBF2_chr11_9773668_10299219	9989052	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0194 a0001c0012t0005g0194	1	221	0.0045	28	c.139 others(45): Show c.1395+444_1395+445insCATATATATATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG02004.hp2 others(6): Show HG00558.hp1 HG00639.hp2 HG02004.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG03540.hp1 HG04115.hp2 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0003t0004 a0003c0004t0003	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0003g0026 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0003g0026 a0001c0001t0003g0038 a0001c0001t0003g0149 a0001c0001t0005g0192 a0001c0001t0007g0208 a0001c0003t0004g0205 a0003c0004t0003g0136	9	147	0.0612	28	c.976 others(43): Show c.976-580_976-579insATATATATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10063858	C C	CACAGAGA others(21): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	78	0.0128	28	c.142 others(47): Show c.142-20878_142-20877insCTCTCTCTCTCTCTCTCTCTCTCTCT GT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0157 a0001c0003t0004g0157	1	12	0.0833	28	c.56- others(43): Show c.56-2880_56-2879insAAAAAAAAAATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(21): Show TTTGGAATGCTATGGGGGAGTCCATAGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00673.hp1 others(44): Show HG00280.hp1 HG00423.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02135.hp2 HG02280.hp2 HG02602.hp2 HG02622.hp1 HG02738.hp1 HG03130.hp1 HG03139.hp2 HG03490.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18966.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19030.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19085.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0017 a0001c0020 others(4): Show a0001c0001 a0001c0017 a0001c0020 a0002c0002 a0003c0004 a0004c0006 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0017t0006 a0001c0020t0005 a0002c0002t0001 a0002c0002t0002 a0003c0004t0003 a0004c0006t0002 a0011c0016t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 others(44): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0002g0032 a0001c0001t0002g0050 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0003g0191 a0001c0001t0004g0061 a0001c0001t0004g0116 a0001c0001t0004g0144 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0006g0138 a0001c0001t0010g0115 a0001c0001t0012g0001 a0001c0001t0014g0043 a0001c0017t0006g0080 a0001c0020t0005g0152 a0002c0002t0001g0070 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0124 a0002c0002t0002g0135 a0002c0002t0002g0139 a0003c0004t0003g0008 a0003c0004t0003g0111 a0003c0004t0003g0131 a0003c0004t0003g0136 a0004c0006t0002g0016 a0011c0016t0001g0127	47	107	0.4393	28	c.55+ others(45): Show c.55+44295_55+44322dupTGCTATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBSN_chr19_35518367_35533311	35520373	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	1	382	0.0026	28	c.31 others(39): Show c.3136_*3137insGTATATATATATATATATATATATATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2993		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(21): Show TACACACACACACATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	150	0.0067	28	c.15 others(39): Show c.1585_*1586insACACACACACACATACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(21): Show TACACACACACACATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03654.hp2 HG03130.hp1 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0031 a0001c0002t0002g0009 a0001c0002t0002g0031	2	151	0.0132	28	c.15 others(39): Show c.1585_*1586insACACACACACACATATACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(21): Show TACACACACACACATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0036 a0001c0004t0002g0036	1	150	0.0067	28	c.15 others(39): Show c.1585_*1586insACACACACACACATATATACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	63	0.0159	28	c.606 others(45): Show c.606+1253_606+1254insCTCTCTCTCTCTCTCTCTCTGTCTGTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	124959487	C C	CACACATA others(21): Show CACACATATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0068 a0001c0003t0004g0068	1	303	0.0033	28	c.167 others(47): Show c.1675-6535_1675-6534insATATATATATATGTGTATATATATGT GT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	17/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042615	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0284 a0001c0001t0043g0284	1	293	0.0034	28	c.231 others(47): Show c.231-12877_231-12876insCACACACACACACACACACACACACA CA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0138 a0001c0001t0040g0138	1	69	0.0145	28	c.231 others(47): Show c.231-12896_231-12895insGTGTGTGTGTGTGTGTACACACACAC AC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0302 a0001c0001t0044g0302	1	69	0.0145	28	c.231 others(47): Show c.231-12896_231-12895insGTGTGTACACACACACACACACACAC AC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01123.hp1 HG01123.hp2 others(11): Show HG00438.hp2 HG01123.hp1 HG01123.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG02129.hp2 NA18939.hp2 NA18949.hp2 NA18966.hp2 NA18970.hp2 NA18989.hp2 NA19003.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0035 a0001c0007t0022	a0001c0001t0001g0300 a0001c0001t0002g0084 a0001c0001t0002g0282 others(11): Show a0001c0001t0001g0300 a0001c0001t0002g0084 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0005g0024 a0001c0001t0005g0283 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0011g0288 a0001c0001t0022g0303 a0001c0001t0023g0305 a0001c0001t0035g0292 a0001c0007t0022g0304	14	82	0.1707	28	c.231 others(47): Show c.231-12896_231-12895insGTACACACACACACACACACACACAC AC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0141 a0001c0001t0020g0141	1	49	0.0204	28	c.98+ others(45): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	49	0.0204	28	c.98+ others(45): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0275 a0002c0002t0008g0275	1	49	0.0204	28	c.98+ others(45): Show c.98+36510_98+36511insATATATATATATATATATTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0281 a0002c0002t0007g0281	1	49	0.0204	28	c.98+ others(45): Show c.98+36510_98+36511insATATATATATATATATATATATTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78404453	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0168 a0002c0003t0007g0168	1	110	0.0091	28	c.136 others(47): Show c.136-11047_136-11046insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19079.hp1 NA19004.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0235 a0001c0001t0001g0195 a0001c0001t0001g0235	2	252	0.0079	28	c.852 others(45): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTTCTTTCTTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	220	0.0045	28	c.852 others(45): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	291	0.0034	28	c.35 others(39): Show c.3582_*3583insTATATATATATATATATATATATATACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155265592	A A	AATAAATA others(21): Show AATAAATAAATAAATAAATAAATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01884.hp2 HG01891.hp2 others(7): Show HG00280.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02615.hp1 HG03041.hp2 HG03486.hp1 HG03654.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016	10	209	0.0478	28	c.-34 others(39): Show c.-3442_-3441insATATTTATTTATTTATTTATTTATTTAT	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3233		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	132	0.0076	28	c.-42 others(45): Show c.-42+1450_-42+1451insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01975.hp2 others(1): Show HG01257.hp1 HG01258.hp2 HG01975.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0040 a0001c0001t0001g0155 a0001c0001t0001g0159	4	197	0.0203	28	c.-47 others(39): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTTTCTTT others(21): Show CTTTCTTTCTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	194	0.0052	28	c.-47 others(39): Show c.-4728_-4727insTTTCTTTCTTCTTTCTTTCTTTCTTTCT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp2 HG02071.hp2 others(6): Show HG01433.hp2 HG01993.hp2 HG02071.hp2 HG03130.hp1 HG04204.hp1 NA18939.hp2 NA18965.hp2 NA19068.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0011 a0001c0004 a0002c0002 a0002c0011	a0001c0004t0001 a0002c0002t0002 a0002c0011t0002 a0001c0004t0001 a0002c0002t0002 a0002c0011t0002	a0001c0004t0001g0129 a0002c0002t0002g0190 a0002c0002t0002g0223 others(6): Show a0001c0004t0001g0129 a0002c0002t0002g0190 a0002c0002t0002g0223 a0002c0002t0002g0234 a0002c0002t0002g0251 a0002c0002t0002g0257 a0002c0002t0002g0275 a0002c0002t0002g0281 a0002c0011t0002g0225	9	84	0.1071	28	c.331 others(47): Show c.3311+5184_3311+5211dupTATATATATATATATATATATATATA TA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar

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