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
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0105 a0002c0001t0001g0105	1	53	0.0189	25	c.-28 others(36): Show c.-2803_-2802insTATATATATATATATATTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03139.hp1 HG02717.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0042 a0001c0002t0004g0042	2	54	0.0370	25	c.-28 others(36): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02896.hp2 NA18992.hp2 others(1): Show HG02148.hp1 HG02896.hp2 NA18992.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0064 others(1): Show a0001c0003 a0001c0006 a0001c0064 a0002c0033	a0001c0003t0001 a0001c0006t0001 a0001c0064t0001 others(1): Show a0001c0003t0001 a0001c0006t0001 a0001c0064t0001 a0002c0033t0001	a0001c0003t0001g0035 a0001c0006t0001g0328 a0001c0064t0001g0341 others(1): Show a0001c0003t0001g0035 a0001c0006t0001g0328 a0001c0064t0001g0341 a0002c0033t0001g0312	4	124	0.0323	25	c.20+ others(42): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAMD11_chr1_918923_949574	933988	C C	CTGCTCCG others(18): Show CTGCTCCGTTACAGGTGGGCAGGGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0307 a0001c0009t0010g0307	1	432	0.0023	25	c.843 others(42): Show c.843-1784_843-1783insTGCTCCGTTACAGGTGGGCAGGGGA	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SAMD11_chr1_918923_949574	934125	A A	AGGCGGCT others(18): Show AGGCGGCTGCGTTACAGGTGGGCAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02523.hp2 NA19067.hp1 HG00609.hp1 HG02523.hp2 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0248 a0002c0003t0004g0249 a0002c0003t0004g0252 a0002c0003t0004g0248 a0002c0003t0004g0249 a0002c0003t0004g0252	3	400	0.0075	25	c.843 others(42): Show c.843-1644_843-1620dupCGGCTGCGTTACAGGTGGGCAGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934176	A A	AGGGGCGG others(18): Show AGGGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0230 a0002c0003t0004g0230	1	297	0.0034	25	c.843 others(42): Show c.843-1592_843-1591insCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934515	G G	GGGGGCGG others(18): Show GGGGGCGGCTCCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0016 a0016	a0016c0050 a0016c0050	a0016c0050t0004 a0016c0050t0004	a0016c0050t0004g0231 a0016c0050t0004g0231	1	429	0.0023	25	c.843 others(42): Show c.843-1248_843-1247insCCGTTACAGGTGGGCAGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934713	A A	AGGCGGCT others(18): Show AGGCGGCTGCGTTACAGGTGGGCAGG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0223 a0002c0018t0004g0223	1	375	0.0027	25	c.843 others(42): Show c.843-1037_843-1036insAGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934853	A A	AGGCGGCT others(18): Show AGGCGGCTGCGTTACAGGTGGGCAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0287 a0001c0011t0002g0287	1	361	0.0028	25	c.843 others(40): Show c.843-897_843-896insAGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD8_chr10_75106656_75187123	75109811	G G	GTGTTTTG others(18): Show GTGTTTTGTTTTGTTTTGTTTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	315	0.0032	25	c.-19 others(36): Show c.-1927_-1926insTGTTTTGTTTTGTTTTGTTTTGTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding		1844		chr10	TogoVar
SARDH_chr9_133658560_133743352	133668405	A A	ACCTCCCT others(18): Show ACCTCCCTCTCCCTTACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0081 a0005c0019t0001g0081	1	256	0.0039	25	c.249 others(44): Show c.2496-1536_2496-1535insAGAGGGAGGGTAAGGGAGAGGGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTTCTTTC others(18): Show CTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0045	1	119	0.0084	25	c.157 others(42): Show c.157-2567_157-2566insTCTTTCTTTCTTTCTTTCTTTCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387616	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0099 a0002c0004t0008g0099	1	317	0.0032	25	c.157 others(42): Show c.157-2516_157-2515insCCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387620	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0070 a0003c0008t0003g0070	1	317	0.0032	25	c.157 others(42): Show c.157-2512_157-2511insCCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387624	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0231 a0007c0030t0001g0231	1	314	0.0032	25	c.157 others(42): Show c.157-2508_157-2507insCCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387628	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0127 a0001c0003t0018g0127	1	314	0.0032	25	c.157 others(42): Show c.157-2504_157-2503insCCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387632	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0105 a0002c0002t0003g0105	1	315	0.0032	25	c.157 others(42): Show c.157-2500_157-2499insCCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	309	0.0032	25	c.157 others(42): Show c.157-2496_157-2495insCCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387640	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA20129.hp1 NA18993.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0024 a0002c0002 a0001c0024 a0002c0002	a0001c0024t0010 a0002c0002t0004 a0001c0024t0010 a0002c0002t0004	a0001c0024t0010g0107 a0002c0002t0004g0009 a0001c0024t0010g0107 a0002c0002t0004g0009	2	301	0.0066	25	c.157 others(42): Show c.157-2492_157-2491insCCTTCCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02074.hp2 NA19004.hp1 HG00280.hp2 HG02074.hp2 NA19004.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0018 a0002c0002 a0003c0018	a0002c0002t0001 a0002c0002t0009 a0003c0018t0004 a0002c0002t0001 a0002c0002t0009 a0003c0018t0004	a0002c0002t0001g0176 a0002c0002t0009g0236 a0003c0018t0004g0064 a0002c0002t0001g0176 a0002c0002t0009g0236 a0003c0018t0004g0064	3	120	0.0250	25	c.386 others(42): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148524121	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0015 a0002c0005t0006g0015	1	57	0.0175	25	c.121 others(44): Show c.1210-1169_1210-1168insATATATATATATATATATATTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01361.hp1 HG01361.hp2 others(2): Show HG00738.hp1 HG01361.hp1 HG01361.hp2 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0033 a0001c0001t0098 others(2): Show a0001c0001t0009 a0001c0001t0033 a0001c0001t0098 a0001c0001t0104 a0001c0002t0003	a0001c0001t0009g0053 a0001c0001t0033g0298 a0001c0001t0098g0234 others(2): Show a0001c0001t0009g0053 a0001c0001t0033g0298 a0001c0001t0098g0234 a0001c0001t0104g0294 a0001c0002t0003g0014	5	67	0.0746	25	c.47 others(36): Show c.4787_*4811dupAAAAAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02735.hp1 HG01255.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0204 a0001c0001t0001g0099 a0001c0001t0001g0204	2	135	0.0148	25	c.-31 others(44): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	12	0.0833	25	c.56- others(40): Show c.56-2880_56-2879insAAAAAAAAATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK3_chr19_55535656_55550543	55548880	G G	GTTCTGCC others(18): Show GTTCTGCCTCAGCCTCTTGAGTAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	25	c.-33 others(36): Show c.-3338_-3337insAGCTACTCAAGAGGCTGAGGCAGAA	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3338		chr19	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01981.hp1 HG03195.hp2 HG00280.hp1 HG01981.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0006 a0001c0001t0004 a0001c0008t0006	a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0008t0006g0094 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0008t0006g0094	3	98	0.0306	25	c.403 others(42): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1157408	G G	GGCCCCGA others(18): Show GGCCCCGAAGACGCTCTCCCCACGCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(17): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01081.hp2 HG01255.hp2 HG02056.hp2 HG02129.hp2 HG02602.hp2 HG03209.hp1 HG04184.hp1 NA18983.hp1 NA19005.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0001c0007 others(6): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0023 a0002c0003 a0003c0009 a0003c0014 a0005c0022	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0023t0001 a0002c0003t0001 a0003c0009t0001 a0003c0014t0001 a0005c0022t0001	a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 others(17): Show a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0138 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0007t0001g0146 a0001c0007t0001g0182 a0001c0010t0001g0188 a0001c0023t0001g0139 a0002c0003t0001g0041 a0002c0003t0001g0132 a0002c0003t0001g0140 a0003c0009t0001g0141 a0003c0014t0001g0003 a0003c0014t0001g0133 a0005c0022t0001g0128	20	202	0.0990	25	c.-12 others(44): Show c.-126-3007_-126-3006insTGCGTGGGGAGAGCGTCTTCGGGGC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1158701	C C	CATTACCT others(18): Show CATTACCTCAGCCGAGGTTCTCCGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	202	0.0050	25	c.-12 others(44): Show c.-126-4324_-126-4300dupCCCGGAGAACCTCGGCTGAGGTAAT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1167011	A A	AAATGTCA others(18): Show AAATGTCACAAGGACCTGCATCCGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0005 a0004c0012t0002g0005	1	202	0.0050	25	c.-12 others(44): Show c.-127+7136_-127+7160dupCTCGGATGCAGGTCCTTGTGACATT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAF1_chr19_49637209_49663642	49660027	A A	ACACACAC others(18): Show ACACACACACACCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0073 a0005c0011t0003g0073	1	370	0.0027	25	c.16 others(36): Show c.1628_*1629insCACACACACACCCCCCCCCCCCCCC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1386		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	246	0.0041	25	c.16 others(36): Show c.1629_*1630insACACACACACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0159 a0001c0001t0020g0159	1	49	0.0204	25	c.98+ others(42): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18983.hp2 NA18949.hp1 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0244 a0002c0002t0001g0228 a0002c0002t0001g0244	2	50	0.0400	25	c.98+ others(42): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18979.hp2 NA18939.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0062 a0001c0001t0002 a0001c0001t0062	a0001c0001t0002g0106 a0001c0001t0062g0129 a0001c0001t0002g0106 a0001c0001t0062g0129	2	50	0.0400	25	c.98+ others(42): Show c.98+36510_98+36511insATATATATATATATATATATTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0105 a0001c0001t0051g0105	1	49	0.0204	25	c.98+ others(42): Show c.98+36510_98+36511insATATATATATATATATATATATTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78404453	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG02559.hp1 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0167 a0002c0003t0007g0170 a0002c0003t0007g0167 a0002c0003t0007g0170	2	111	0.0180	25	c.136 others(44): Show c.136-11047_136-11046insTTTTTTTTTTTTTTTTTTTTTTTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78447848	T T	TCCCTCCT others(18): Show TCCCTCCTCCCCTCCCTCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0141 a0001c0001t0025g0141	1	122	0.0082	25	c.633 others(42): Show c.633-2073_633-2072insCCCTCCTCCCCTCCCCTCCTCCCCT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74873423	T T	TCGCTCCG others(18): Show TCGCTCCGCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0300	1	384	0.0026	25	c.-16 others(34): Show c.-169_-168insGGGGGGGGGGGGGGGGGGCGGAGCG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		59		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03041.hp2 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	162	0.0123	25	c.35 others(36): Show c.3550_*3551insAAAAAAAAATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(18): Show TTTTTTTCTCTTTCTCTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01361.hp1 HG00099.hp1 HG01081.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0130	3	340	0.0088	25	c.-47 others(36): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(18): Show TTTTTTTCTCTTTCTCTCTTTGTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	338	0.0030	25	c.-47 others(36): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTGTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990980	T T	TTCTTTCT others(18): Show TTCTTTCTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	316	0.0032	25	c.-47 others(36): Show c.-4742_-4741insTCTTTCTTCTTTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4582		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76352674	T T	TCCTGACC others(18): Show TCCTGACCTCAAGTGATCTGCTCACC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	310	0.0032	25	c.404 others(44): Show c.4047+1250_4047+1274dupGGTGAGCAGATCACTTGAGGTCAGG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	30/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428894	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	308	0.0032	25	c.331 others(44): Show c.3311+5183_3311+5184insATATATATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	8	0.1250	25	c.295 others(46): Show c.2954+16120_2954+16144dupAAAAAAAAAAAAAAAAAAAAAAAA A	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667625	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG00323.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	2	39	0.0513	25	c.250 others(44): Show c.2509-1861_2509-1837dupTTTTTTTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01069.hp2 others(6): Show HG00099.hp1 HG00140.hp1 HG01069.hp2 HG01256.hp2 HG01515.hp1 HG02698.hp1 HG03704.hp1 HG03942.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0009 a0006c0013 a0001c0001 a0001c0009 a0006c0013	a0001c0001t0002 a0001c0009t0001 a0006c0013t0001 a0001c0001t0002 a0001c0009t0001 a0006c0013t0001	a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 others(6): Show a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0009t0001g0266 a0006c0013t0001g0265	9	35	0.2571	25	c.-99 others(42): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp1 HG01981.hp2 others(10): Show HG00621.hp1 HG01243.hp1 HG01981.hp2 HG02074.hp1 HG02723.hp1 NA18747.hp2 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18989.hp1 NA18991.hp1 NA19083.hp2 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0005 a0001c0004 a0002c0001 a0003c0005	a0001c0004t0002 a0002c0001t0001 a0003c0005t0002 a0001c0004t0002 a0002c0001t0001 a0003c0005t0002	a0001c0004t0002g0256 a0002c0001t0001g0296 a0002c0001t0001g0301 others(10): Show a0001c0004t0002g0256 a0002c0001t0001g0296 a0002c0001t0001g0301 a0002c0001t0001g0304 a0002c0001t0001g0307 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0313 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0318 a0003c0005t0002g0016 a0003c0005t0002g0018	13	114	0.1140	25	c.169 others(42): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0001 a0004c0010t0001g0001	1	48	0.0208	25	c.156 others(46): Show c.1562-86436_1562-86435insTCTCTCTCTCTCTCTCTCTCTCTC T	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(18): Show CTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG02970.hp1 others(1): Show HG01884.hp1 HG02723.hp1 HG02970.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	4	204	0.0196	25	c.16 others(36): Show c.1663_*1664insTGGTGAGGGGACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1539		chr11	TogoVar

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