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
SIGIRR_chr11_400716_419999	414323	C C	CCACCTTT others(21): Show CCACCTTTCCCTGCACCCTCTCCCCTGCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0195 a0001c0001t0001g0196	2	240	0.0083	28	c.-15 others(45): Show c.-154+472_-154+499dupTGCAGGGGAGAGGGTGCAGGGAAAGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGLEC10_chr19_51405020_51422642	51405400	C C	CTTTTCTT others(21): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0043 a0004c0004t0006g0043	1	171	0.0058	28	c.56 others(39): Show c.5698_*5699insAAAAAAAAAAAAAAAAAAAAAAAGAAAA	SIGLEC10	ENSG00000142512.15	transcript	ENST00000339313.10	protein_coding		4619		chr19	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTTCT others(21): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp1 HG01192.hp1 others(10): Show HG00099.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01891.hp1 HG01952.hp1 HG02083.hp1 HG02083.hp2 HG02683.hp1 HG03017.hp2 HG03041.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0023 a0001c0001t0044	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0040 others(10): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0002g0051 a0001c0001t0002g0071 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0006g0088 a0001c0001t0010g0081 a0001c0001t0023g0197 a0001c0001t0044g0034	13	35	0.3714	28	c.316 others(45): Show c.316+8024_316+8051dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116844619	A A	ATATATAT others(21): Show ATATATATATAATATATTATATTATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0283 a0001c0002t0013g0283	1	363	0.0028	28	c.99 others(38): Show c.996_*1023dupATATATAATATAATATATTATATATATA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	25/25	1776		chr11	TogoVar
SIK3_chr11_116838402_117103428	116915124	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	171	0.0058	28	c.616 others(47): Show c.616+12067_616+12094dupCACACACACACACACACACACACACA CA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116965734	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	66	0.0152	28	c.274 others(45): Show c.274-8698_274-8671dupATATATATATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013906	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG03490.hp2 others(3): Show HG00323.hp2 HG00609.hp2 HG03490.hp2 HG03492.hp1 NA18965.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 others(3): Show a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0158 a0001c0001t0003g0167 a0001c0001t0003g0169	6	359	0.0167	28	c.274 others(47): Show c.274-56843_274-56842insTACACACACACACACACACACACACA CA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(21): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG02818.hp2 others(1): Show HG01074.hp1 HG02615.hp1 HG02818.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0011 a0001c0002t0004 a0001c0002t0011	a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0054 others(1): Show a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0054 a0001c0002t0011g0056	4	63	0.0635	28	c.274 others(47): Show c.274-59331_274-59330insTTCCTTCCTTCCTTCCCTCCCTCCCT CC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(21): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18965.hp1 NA18968.hp2 others(6): Show HG00323.hp2 NA18965.hp1 NA18968.hp2 NA18973.hp1 NA18994.hp2 NA19054.hp2 NA19056.hp2 NA19072.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0003g0131 others(6): Show a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0003g0131 a0001c0001t0003g0151 a0001c0001t0003g0156 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0281	9	68	0.1324	28	c.274 others(47): Show c.274-59331_274-59330insTTCCTTCCCTCCCTCCCTCCCTCCCT CC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02717.hp2 HG03490.hp2 others(2): Show HG02040.hp1 HG02717.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0003g0134 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0021g0136	5	233	0.0215	28	c.274 others(47): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT AT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	30	0.0333	28	c.274 others(47): Show c.274-64892_274-64865dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18960.hp1 NA18945.hp2 NA18960.hp1	a0001 a0015 a0001 a0015	a0001c0002 a0015c0023 a0001c0002 a0015c0023	a0001c0002t0002 a0015c0023t0002 a0001c0002t0002 a0015c0023t0002	a0001c0002t0002g0029 a0015c0023t0002g0015 a0001c0002t0002g0029 a0015c0023t0002g0015	2	200	0.0100	28	c.274 others(47): Show c.274-66558_274-66557insATATATATATATATATATATATATAT TT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02602.hp2 others(10): Show HG01361.hp2 HG01884.hp1 HG02602.hp2 HG03453.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG06807.hp2 NA18945.hp2 NA18946.hp2 NA18983.hp1 NA19003.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0170 a0001c0002t0001g0101 a0001c0002t0001g0104	13	129	0.1008	28	c.-10 others(47): Show c.-10-27623_-10-27596dupTCTCTCTCTCTCTCTCTCTCTCTCTC TC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIPA1L1_chr14_71315476_71746209	71491761	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	17	0.0588	28	c.-46 others(49): Show c.-464-20957_-464-20930dupACACACACACACACACACACACAC ACAC	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71742353	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0067 a0001c0006t0001g0067	1	73	0.0137	28	c.31 others(39): Show c.3192_*3193insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding		1145		chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01891.hp2 others(10): Show HG00597.hp1 HG01081.hp1 HG01891.hp2 HG01993.hp1 HG02300.hp1 HG02717.hp1 HG02965.hp2 HG02970.hp1 NA18950.hp1 NA18979.hp2 NA19009.hp1 NA19068.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0003 a0001c0005 a0001c0017 others(5): Show a0001c0003 a0001c0005 a0001c0017 a0002c0007 a0002c0008 a0003c0013 a0004c0032 a0012c0056	a0001c0003t0009 a0001c0005t0001 a0001c0017t0001 others(6): Show a0001c0003t0009 a0001c0005t0001 a0001c0017t0001 a0002c0007t0001 a0002c0007t0003 a0002c0008t0001 a0003c0013t0002 a0004c0032t0002 a0012c0056t0001	a0001c0003t0009g0165 a0001c0003t0009g0166 a0001c0005t0001g0082 others(10): Show a0001c0003t0009g0165 a0001c0003t0009g0166 a0001c0005t0001g0082 a0001c0005t0001g0087 a0001c0017t0001g0159 a0002c0007t0001g0111 a0002c0007t0001g0216 a0002c0007t0003g0235 a0002c0008t0001g0184 a0003c0013t0002g0026 a0003c0013t0002g0037 a0004c0032t0002g0056 a0012c0056t0001g0114	13	75	0.1733	28	c.-26 others(49): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA TATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG02080.hp2 others(3): Show HG00099.hp1 HG00099.hp2 HG02080.hp2 HG03492.hp2 HG03831.hp1 NA18522.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0013	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0012c0021 a0013c0036	a0001c0001t0004 a0001c0001t0005 a0001c0003t0004 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0003t0004 a0002c0002t0003 a0012c0021t0003 a0013c0036t0004	a0001c0001t0004g0021 a0001c0001t0005g0003 a0001c0003t0004g0110 others(3): Show a0001c0001t0004g0021 a0001c0001t0005g0003 a0001c0003t0004g0110 a0002c0002t0003g0116 a0012c0021t0003g0015 a0013c0036t0004g0056	6	49	0.1224	28	c.-37 others(49): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38030623	A A	AATACATA others(21): Show AATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0001 a0015c0034t0001	a0015c0034t0001g0081 a0015c0034t0001g0081	1	111	0.0090	28	c.-31 others(47): Show c.-311+1470_-311+1471insCATATATATATATATATATATATATA TA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPB1_chr20_1556385_1625009	1559135	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03490.hp1 HG03492.hp1 HG00140.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0007 a0003c0003t0005g0046 a0003c0003t0005g0007 a0003c0003t0005g0046	3	294	0.0102	28	c.63 others(39): Show c.6364_*6365insTATATATATATATATATATATATATATA	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding		2249		chr20	TogoVar
SIRPD_chr20_1529251_1562705	1559135	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG03490.hp1 HG03492.hp1 HG00140.hp2 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0042 a0001c0004t0001g0009 a0001c0004t0001g0042	3	320	0.0094	28	c.-14 others(39): Show c.-1483_-1482insTATATATATATATATATATATATATATA	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		1431		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02040.hp2 HG03927.hp2 others(2): Show HG01255.hp1 HG02040.hp2 HG03927.hp2 NA19086.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0007 a0004c0008 a0002c0002 a0003c0007 a0004c0008	a0002c0002t0003 a0003c0007t0012 a0004c0008t0003 a0002c0002t0003 a0003c0007t0012 a0004c0008t0003	a0002c0002t0003g0022 a0002c0002t0003g0111 a0003c0007t0012g0113 others(1): Show a0002c0002t0003g0022 a0002c0002t0003g0111 a0003c0007t0012g0113 a0004c0008t0003g0112	5	140	0.0357	28	c.74- others(41): Show c.74-595_74-594insTATATATATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT3_chr11_210030_241342	236370	C C	CCGGCGCC others(21): Show CCGGCGCCCCGCCCCCGGCGCCCCGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02074.hp1 NA18747.hp1 others(1): Show HG02071.hp1 HG02074.hp1 NA18747.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0109 a0001c0001t0006g0023 a0001c0001t0006g0109	4	83	0.0482	28	c.-43 others(35): Show c.-43_-42insCGGGCGGGGCGCCGGGGGCGGGGCGCCG	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding		29		chr11	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA19012.hp2 NA19087.hp1 NA18966.hp2 NA19012.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0001g0002 a0001c0001t0002g0003	3	24	0.1250	28	c.21 others(39): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp1 HG01074.hp2 others(21): Show HG00673.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02735.hp2 HG02886.hp1 HG03098.hp2 HG03834.hp1 HG04228.hp1 NA18747.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp2 NA19056.hp1 NA19062.hp2 NA19077.hp2 NA19086.hp2	a0001 a0004 a0010 others(2): Show a0001 a0004 a0010 a0015 a0019	a0001c0001 a0001c0010 a0001c0025 others(4): Show a0001c0001 a0001c0010 a0001c0025 a0004c0004 a0010c0022 a0015c0028 a0019c0023	a0001c0001t0001 a0001c0010t0001 a0001c0025t0008 others(4): Show a0001c0001t0001 a0001c0010t0001 a0001c0025t0008 a0004c0004t0004 a0010c0022t0001 a0015c0028t0004 a0019c0023t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0010t0001g0058 a0001c0025t0008g0026 a0004c0004t0004g0062 a0010c0022t0001g0011 a0015c0028t0004g0061 a0019c0023t0001g0059	24	135	0.1778	28	c.636 others(41): Show c.636-60_636-33dupATATATATATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48367536	G G	GTATATAT others(21): Show GTATATATATATATGGATATATATCCATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(27): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01981.hp2 HG02257.hp1 HG02602.hp1 HG02683.hp1 HG02922.hp1 HG03017.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 NA18747.hp2 NA18943.hp1 NA18975.hp2 NA18993.hp2 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 others(27): Show a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0004g0001 a0002c0002t0001g0248	30	130	0.2308	28	c.153 others(45): Show c.153-3750_153-3723dupTATGGATATATATCCATATATATATATA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48367561	C C	CATATATA others(21): Show CATATATATATATATGGATATATATCCAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	241	0.0041	28	c.153 others(45): Show c.153-3748_153-3747insATGGATATATATCCATATATATATATAT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	25	0.0400	28	c.796 others(45): Show c.796+7891_796+7918dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26857310	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	10	0.1000	28	c.68- others(43): Show c.68-2421_68-2420insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	1/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26864055	T T	TCACACAC others(21): Show TCACACACTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0293 a0003c0005t0002g0293	1	91	0.0110	28	c.67+ others(41): Show c.67+307_67+308insTGTGTGTGTGTGTGTGTGTGAGTGTGTG	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	1/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26867617	A A	ATATATAC others(21): Show ATATATACATATATATACATATATATACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0286 a0003c0003t0005g0286	1	294	0.0034	28	c.-31 others(39): Show c.-3189_-3188insGGTATATATATGTATATATATGTATATA	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding		3028		chr7	TogoVar
SKAP2_chr7_26662068_26869590	26867658	T T	TATATATA others(21): Show TATATATACATATATATACCTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02486.hp2 others(6): Show HG01106.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0005 a0003c0005t0002 a0003c0003t0005 a0003c0005t0002	a0003c0003t0005g0284 a0003c0003t0005g0285 a0003c0003t0005g0287 others(6): Show a0003c0003t0005g0284 a0003c0003t0005g0285 a0003c0003t0005g0287 a0003c0003t0005g0288 a0003c0003t0005g0289 a0003c0003t0005g0290 a0003c0003t0005g0291 a0003c0003t0005g0292 a0003c0005t0002g0293	9	294	0.0306	28	c.-32 others(39): Show c.-3230_-3229insGTATATATAGGTATATATATGTATATAT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding		3069		chr7	TogoVar
SKIL_chr3_170352715_170401835	170365752	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0328 a0002c0002t0006g0328	1	47	0.0213	28	c.109 others(47): Show c.1098+4344_1098+4345insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03831.hp1 NA18951.hp1 others(4): Show HG01106.hp1 HG03831.hp1 NA18951.hp1 NA18957.hp1 NA18970.hp2 NA18997.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0111 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0302 a0001c0001t0001g0327 a0001c0001t0001g0348	7	101	0.0693	28	c.46 others(39): Show c.4682_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(21): Show TACATACATACATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	95	0.0105	28	c.47 others(39): Show c.4709_*4710insGTGTGTGTGTGTGTGTATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(21): Show TACATACATACATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18941.hp2 NA18994.hp2 others(1): Show HG02622.hp1 NA18941.hp2 NA18994.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0222 a0001c0001t0001g0288 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0222 a0001c0001t0001g0288 a0001c0001t0001g0349	4	98	0.0408	28	c.47 others(39): Show c.4709_*4710insGTGTGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609256	C C	CACACACA others(21): Show CACACACACACACACACACACACACACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	342	0.0029	28	c.46 others(39): Show c.4609_*4610insTAGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3061		chr20	TogoVar
SLAMF8_chr1_159821873_159842492	159841145	G G	GTAGCTGA others(21): Show GTAGCTGAGGGGCAGTTTATGGACAAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	474	0.0021	28	c.58 others(39): Show c.5885_*5886insTAGCTGAGGGGCAGTTTATGGACAAGGT	SLAMF8	ENSG00000158714.11	transcript	ENST00000289707.10	protein_coding		3654		chr1	TogoVar
SLA_chr8_133031728_133107602	133093141	T T	TTTCTTTT others(21): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp1 HG03139.hp1 others(1): Show HG02486.hp1 HG03098.hp1 HG03139.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0074 a0002c0002t0002g0082 a0002c0002t0002g0083 others(1): Show a0002c0002t0002g0074 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0012g0330	4	203	0.0197	28	c.-31 others(47): Show c.-319+9411_-319+9412insGAAAAGAAAAGAAAAGAAAAGAAAAG AA	SLA	ENSG00000155926.14	transcript	ENST00000338087.10	protein_coding	1/8			chr8	TogoVar
SLC10A6_chr4_86818468_86854384	86837285	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAGAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	262	0.0038	28	c.378 others(45): Show c.378-3862_378-3861insCTTTTTCTCTCTTTCTTTCTTTCTTTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAGAGAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19010.hp2 HG03490.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0003 a0001c0004t0002g0246 a0001c0001t0002g0003 a0001c0004t0002g0246	2	300	0.0067	28	c.378 others(45): Show c.378-3863_378-3862insCCTTTCTTTTTCTCTCTTTCTTTCTTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(21): Show AGAAAGAAAGAGAGAAAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	299	0.0033	28	c.378 others(45): Show c.378-3863_378-3862insCCTTCCTTTCTTTTTCTCTCTTTCTTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18993.hp2 HG03490.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0001 a0001c0001t0001g0027	2	77	0.0260	28	c.377 others(45): Show c.377+5925_377+5952dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC11A1_chr2_218377273_218401894	218400921	T T	TGGCTGCC others(21): Show TGGCTGCCCCGGAACTGAGGGCAAGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	374	0.0027	28	c.58 others(39): Show c.5886_*5887insGGCTGCCCCGGAACTGAGGGCAAGGTGG	SLC11A1	ENSG00000018280.17	transcript	ENST00000233202.11	protein_coding		4028		chr2	TogoVar
SLC12A1_chr15_48201302_48309078	48277484	A A	AAAGCAAG others(21): Show AAAGCAAGAGAGGAATGGTTTACTTCTAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01496.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0255 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0255	3	264	0.0114	28	c.248 others(47): Show c.2485+2852_2485+2853insCTTCTATAAGCAAGAGAGGAATGGTT TA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48294899	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01928.hp2 HG02109.hp1 others(6): Show HG00544.hp2 HG01928.hp2 HG02109.hp1 HG02148.hp1 HG02258.hp2 NA18747.hp2 NA18945.hp2 NA18950.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0002g0135 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0199 a0001c0001t0004g0245 a0001c0002t0002g0030	9	133	0.0677	28	c.296 others(47): Show c.2960+3062_2960+3063insATTTATTTATTTATTTATTTATTTAT TT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(21): Show ATATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	74	0.0135	28	c.104 others(47): Show c.1049-4100_1049-4099insATATATATATATATATATATAATTTT TT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A6_chr15_34224784_34342781	34235431	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0008 a0001c0005t0008g0008	1	183	0.0055	28	c.322 others(45): Show c.3228-118_3228-117insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	24/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1098215	A A	AGCCCCCC others(21): Show AGCCCCCCTCTAACCCTCTGCACACCCAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	118	0.0085	28	c.125 others(45): Show c.125-3995_125-3968dupCTGGGTGTGCAGAGGGTTAGAGGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098278	C C	CTAACCCT others(21): Show CTAACCCTCTGCACACCCAGCCCCCATCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19079.hp1 HG02698.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0108 a0001c0001t0001g0113	2	37	0.0541	28	c.125 others(45): Show c.125-4031_125-4030insAGATGGGGGCTGGGTGTGCAGAGGGTTA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46632905	A A	ACAGACAG others(21): Show ACAGACAGATAGCTCTTTATCTACCCACC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01255.hp1 others(8): Show HG00280.hp1 HG00621.hp1 HG01255.hp1 HG01496.hp2 HG02015.hp2 HG02129.hp2 HG03540.hp1 NA18747.hp2 NA18959.hp1 NA18972.hp1 NA18986.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0011 a0004c0017	a0001c0001t0003 a0001c0002t0002 a0001c0003t0004 others(6): Show a0001c0001t0003 a0001c0002t0002 a0001c0003t0004 a0001c0004t0001 a0001c0004t0003 a0001c0005t0002 a0001c0007t0001 a0002c0011t0013 a0004c0017t0003	a0001c0001t0003g0278 a0001c0002t0002g0353 a0001c0003t0004g0067 others(8): Show a0001c0001t0003g0278 a0001c0002t0002g0353 a0001c0003t0004g0067 a0001c0004t0001g0081 a0001c0004t0003g0329 a0001c0005t0002g0082 a0001c0005t0002g0120 a0001c0005t0002g0190 a0001c0007t0001g0257 a0002c0011t0013g0237 a0004c0017t0003g0103	11	388	0.0284	28	c.111 others(47): Show c.111+18405_111+18406insGGTGGGTAGATAAAGAGCTATCTGTC TG	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar

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