Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIK3_chr11_116838402_117103428	117023619	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0174 a0002c0004t0005g0174	1	329	0.0030	24	c.274 others(43): Show c.274-66556_274-66555insATATATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18947.hp1 NA18944.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0016 a0001c0002t0002g0019	2	200	0.0100	24	c.274 others(43): Show c.274-66558_274-66557insATATATATATATATATATTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02074.hp1 NA18952.hp1 HG01261.hp1 HG02074.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0002 a0001c0002t0002g0017 a0001c0002t0002g0021	3	201	0.0149	24	c.274 others(43): Show c.274-66558_274-66557insATATATATATATATATATATATTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117055089	A A	AAGTAGTT others(17): Show AAGTAGTTTATTCACGGACACAGTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	364	0.0027	24	c.273 others(43): Show c.273+43030_273+43053dupGACTGTGTCCGTGAATAAACTACT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139058970	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA21309.hp1 NA18522.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0161 a0002c0003t0001g0034 a0002c0003t0001g0161	2	103	0.0194	24	c.245 others(41): Show c.245-7925_245-7924insCACACACACACACACACACACACA	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp1 others(6): Show HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01258.hp1 HG01975.hp2 HG01981.hp1 NA18960.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0167 a0001c0002t0001g0072	9	125	0.0720	24	c.-10 others(43): Show c.-10-27619_-10-27596dupTCTCTCTCTCTCTCTCTCTCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100450696	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	146	0.0068	24	c.259 others(39): Show c.259-341_259-340insTGTGTGTGTGTGTGAGAGAGAGAG	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	3/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01192.hp1 others(6): Show HG01106.hp1 HG01167.hp2 HG01192.hp1 HG01361.hp2 HG02257.hp1 HG04204.hp2 NA18956.hp2 NA19066.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0002t0016 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0016 a0001c0002t0017	a0001c0001t0004g0284 a0001c0002t0002g0058 a0001c0002t0002g0060 others(6): Show a0001c0001t0004g0284 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0110 a0001c0002t0002g0246 a0001c0002t0002g0303 a0001c0002t0016g0355 a0001c0002t0017g0082 a0001c0002t0017g0099	9	171	0.0526	24	c.851 others(41): Show c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIMC1_chr5_176233424_176350989	176304213	G G	GCTCCCTC others(17): Show GCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG01943.hp1 others(3): Show HG01361.hp1 HG01891.hp1 HG01943.hp1 HG02135.hp2 HG02148.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0001 a0002c0002t0002 a0002c0003t0001	a0002c0002t0002g0306 a0002c0002t0002g0344 a0002c0003t0001g0349 others(3): Show a0002c0002t0002g0306 a0002c0002t0002g0344 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0352	6	126	0.0476	24	c.173 others(43): Show c.1734+7897_1734+7920dupCCTCTCCCTCTCCCTCTCCCTCTC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176311847	C C	CAATTTTA others(17): Show CAATTTTATTAGCCTTGACGATGTA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0298 a0002c0002t0002g0298	1	358	0.0028	24	c.173 others(43): Show c.1735-1841_1735-1818dupTTTTATTAGCCTTGACGATGTAAA	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIN3B_chr19_16824398_16885349	16864140	A A	AAAAATTA others(17): Show AAAAATTAGCCGGGCGTGGTGGCGG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	370	0.0027	24	c.138 others(41): Show c.1383+345_1383+368dupAAAATTAGCCGGGCGTGGTGGCGG	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L1_chr14_71315476_71746209	71544131	A A	ATGTATAT others(17): Show ATGTATATACATATATGCACGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	171	0.0058	24	c.-30 others(45): Show c.-303+14769_-303+14792dupACATATATGCACGTGTGTGTATAT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG04184.hp2 HG04199.hp1 others(4): Show HG02572.hp1 HG04184.hp2 HG04199.hp1 NA18952.hp2 NA18979.hp1 NA18993.hp2 NA19057.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0005 a0002c0007 a0002c0008 others(2): Show a0001c0005 a0002c0007 a0002c0008 a0002c0053 a0010c0022	a0001c0005t0001 a0002c0007t0001 a0002c0008t0004 others(2): Show a0001c0005t0001 a0002c0007t0001 a0002c0008t0004 a0002c0053t0008 a0010c0022t0002	a0001c0005t0001g0178 a0002c0007t0001g0152 a0002c0007t0001g0153 others(4): Show a0001c0005t0001g0178 a0002c0007t0001g0152 a0002c0007t0001g0153 a0002c0008t0004g0226 a0002c0053t0008g0272 a0010c0022t0002g0054 a0010c0022t0002g0055	7	69	0.1014	24	c.-26 others(45): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232541935	A A	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0176 a0001c0005t0001g0176	1	144	0.0069	24	c.-26 others(45): Show c.-269-26328_-269-26327insGAGAGAGAGAGAGAGAGAGAGAGA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18950.hp2 NA18979.hp1 HG00642.hp1 NA18950.hp2 NA18979.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0014 a0008c0009 a0001c0001 a0002c0014 a0008c0009	a0001c0001t0002 a0002c0014t0014 a0008c0009t0007 a0001c0001t0002 a0002c0014t0014 a0008c0009t0007	a0001c0001t0002g0066 a0002c0014t0014g0035 a0008c0009t0007g0034 a0001c0001t0002g0066 a0002c0014t0014g0035 a0008c0009t0007g0034	3	46	0.0652	24	c.-37 others(45): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	37968063	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0004 a0014c0031t0004	a0014c0031t0004g0027 a0014c0031t0004g0027	1	77	0.0130	24	c.-37 others(45): Show c.-379+60707_-379+60730dupCTTTCTTTCTTTCTTTCTTTCTTT	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(17): Show AATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG02630.hp2 others(5): Show HG00639.hp1 HG02155.hp1 HG02630.hp2 NA18942.hp1 NA18947.hp2 NA19007.hp1 NA19068.hp2 NA19085.hp1	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0011	a0001c0001 a0001c0003 a0001c0025 others(3): Show a0001c0001 a0001c0003 a0001c0025 a0004c0011 a0010c0013 a0011c0016	a0001c0001t0019 a0001c0003t0001 a0001c0003t0007 others(4): Show a0001c0001t0019 a0001c0003t0001 a0001c0003t0007 a0001c0025t0005 a0004c0011t0001 a0010c0013t0001 a0011c0016t0004	a0001c0001t0019g0022 a0001c0003t0001g0092 a0001c0003t0007g0120 others(5): Show a0001c0001t0019g0022 a0001c0003t0001g0092 a0001c0003t0007g0120 a0001c0003t0007g0154 a0001c0025t0005g0151 a0004c0011t0001g0162 a0010c0013t0001g0050 a0011c0016t0004g0004	8	118	0.0678	24	c.-31 others(43): Show c.-311+1470_-311+1471insCATATATATATATATATATATATA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38030642	A A	ATATATAT others(17): Show ATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0150 a0002c0014t0001g0150	1	159	0.0063	24	c.-31 others(43): Show c.-311+1495_-311+1496insATGTATATATATATGTATATATAT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38065834	C C	CTATTTAT others(17): Show CTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0030 a0003c0005t0011g0163 a0003c0005t0011g0030 a0003c0005t0011g0163	2	63	0.0317	24	c.-31 others(45): Show c.-310-15416_-310-15393dupATTTATTTATTTATTTATTTATTT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38065915	C C	CTATCTAT others(17): Show CTATCTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp2 HG02258.hp1 others(8): Show HG00558.hp1 HG02080.hp2 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG03540.hp1 NA18906.hp1 NA18948.hp1 NA18973.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0015 a0001c0003 a0002c0002 a0002c0015	a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0020 a0002c0015t0004	a0001c0003t0001g0144 a0002c0002t0001g0074 a0002c0002t0001g0088 others(8): Show a0001c0003t0001g0144 a0002c0002t0001g0074 a0002c0002t0001g0088 a0002c0002t0002g0051 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0002t0003g0147 a0002c0002t0008g0082 a0002c0002t0020g0038 a0002c0015t0004g0076	11	28	0.3929	24	c.-31 others(45): Show c.-310-15338_-310-15337insCTATTTATTTATTTATTTATTTAT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38070191	C C	CCTATCTA others(17): Show CCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	33	0.0303	24	c.-31 others(45): Show c.-310-11056_-310-11033dupCTATCTATCTATCTATCTATCTAT	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(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03453.hp1 HG02572.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0007 a0003c0003t0005g0047 a0003c0003t0005g0007 a0003c0003t0005g0047	2	293	0.0068	24	c.63 others(35): Show c.6364_*6365insTATATATATATATATATATATATA	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding		2249		chr20	TogoVar
SIRPD_chr20_1529251_1562705	1559135	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03453.hp1 HG02572.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0148 a0001c0004t0001g0009 a0001c0004t0001g0148	2	319	0.0063	24	c.-14 others(35): Show c.-1483_-1482insTATATATATATATATATATATATA	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		1431		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp1 HG01346.hp1 others(4): Show HG00280.hp1 HG01071.hp1 HG01346.hp1 HG03654.hp1 NA18983.hp2 NA19067.hp1 NA20300.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0017 a0002c0002 a0004c0017	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0004c0017t0002	a0002c0002t0001g0105 a0002c0002t0003g0021 a0002c0002t0003g0103 others(3): Show a0002c0002t0001g0105 a0002c0002t0003g0021 a0002c0002t0003g0103 a0002c0002t0007g0251 a0002c0002t0009g0167 a0004c0017t0002g0104	7	142	0.0493	24	c.74- others(37): Show c.74-595_74-594insTATATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT4_chr12_120297321_120318249	120314479	C C	CAGCCAAA others(17): Show CAGCCAAAGAGTTAAGGTCTAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	378	0.0026	24	c.14 others(35): Show c.1443_*1444insAGCCAAAGAGTTAAGGTCTAGGCT	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding		1231		chr12	TogoVar
SIRT5_chr6_13569601_13620158	13574141	C C	CCCCCCAC others(17): Show CCCCCCACCCCCACCCCCACCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01256.hp2 others(60): Show HG00597.hp1 HG00735.hp1 HG01256.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp2 HG02818.hp1 HG02895.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18998.hp1 NA19002.hp1 NA19006.hp1 NA19009.hp2 NA19056.hp1 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0005c0006 a0007c0008	a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 others(11): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0002t0004 a0001c0005t0004 a0005c0006t0004 a0007c0008t0004	a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0011 others(43): Show a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0024 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0085 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0095 a0001c0001t0005g0003 a0001c0001t0005g0022 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0078 a0001c0001t0013g0025 a0001c0001t0014g0048 a0001c0001t0014g0269 a0001c0001t0015g0069 a0001c0001t0015g0070 a0001c0001t0015g0084 a0001c0001t0018g0011 a0001c0001t0046g0062 a0001c0001t0047g0058 a0001c0001t0048g0266 a0001c0001t0051g0006 a0001c0002t0004g0093 a0001c0005t0004g0008 a0001c0005t0004g0092 a0001c0005t0004g0097 a0005c0006t0004g0265 a0007c0008t0004g0080	63	356	0.1770	24	c.-79 others(33): Show c.-798_-797insCCCCCACCCCCACCCCCACCCCCA	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding		459		chr6	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18982.hp1 NA19004.hp1 others(3): Show NA18969.hp1 NA18982.hp1 NA19004.hp1 NA19057.hp2 NA19064.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003	6	27	0.2222	24	c.21 others(35): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SIX5_chr19_45759785_45774252	45770204	C C	CCAGCAGC others(17): Show CCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0033 a0003c0003t0014g0033	1	6	0.1667	24	c.-13 others(35): Show c.-1384_-1361dupCTGCTGCTGCTGCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SI_chr3_164973898_165083496	164989389	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	134	0.0075	24	c.510 others(43): Show c.5108+1940_5108+1963dupTCTTTCTTTCTTTCTTTCTTTCTT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00741.hp2 others(11): Show HG00140.hp2 HG00558.hp2 HG00741.hp2 HG01261.hp2 HG01496.hp1 HG02258.hp2 HG02572.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03239.hp1 NA18942.hp2 NA18962.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0004c0004t0004 a0001c0001t0001 a0001c0001t0003 a0004c0004t0004	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0003g0074 a0004c0004t0004g0099 a0004c0004t0004g0112 a0004c0004t0004g0153	14	125	0.1120	24	c.636 others(37): Show c.636-56_636-33dupATATATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48224050	G G	GAGGAGGA others(17): Show GAGGAGGAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(14): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01891.hp2 HG01981.hp2 HG04115.hp2 HG04184.hp2 NA18975.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 a0001c0001t0001 a0001c0001t0004 a0002c0004t0001	a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0157 others(14): Show a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0004g0001 a0002c0004t0001g0222	17	289	0.0588	24	c.281 others(43): Show c.281-34551_281-34550insTCTCCTCCTCCTCCTCCTCCTCCT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48224053	G G	GAGGAGGA others(17): Show GAGGAGGAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	277	0.0036	24	c.281 others(43): Show c.281-34554_281-34553insTCTCCTCCTCCTCCTCCTCCTCCT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48369146	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	133	0.0075	24	c.153 others(41): Show c.153-5356_153-5333dupATTTATTTATTTATTTATTTATTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48405450	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	195	0.0051	24	c.47- others(39): Show c.47-8666_47-8665insGAAAGGAAAGAAAGAAAGAAAGAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48411398	C C	CAAATAAA others(17): Show CAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18953.hp2 NA18951.hp1 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0253 a0002c0002t0005g0275 a0002c0002t0001g0253 a0002c0002t0005g0275	2	195	0.0103	24	c.47- others(41): Show c.47-14637_47-14614dupATTTATTTATTTATTTATTTATTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0218 a0002c0004t0001g0218	1	194	0.0052	24	c.46+ others(41): Show c.46+16551_46+16552insATTTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	194	0.0052	24	c.46+ others(41): Show c.46+16551_46+16552insATATATATTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26683535	T T	TGGAAGGA others(17): Show TGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG02257.hp2 others(3): Show HG01243.hp2 HG01255.hp1 HG02257.hp2 HG02818.hp1 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017	a0001c0001t0003g0102 a0001c0001t0008g0197 a0001c0001t0008g0229 others(3): Show a0001c0001t0003g0102 a0001c0001t0008g0197 a0001c0001t0008g0229 a0001c0001t0010g0186 a0001c0001t0010g0232 a0001c0001t0017g0227	6	97	0.0619	24	c.987 others(41): Show c.987+1177_987+1200dupTTCCTTCCTTCCTTCCTTCCTTCC	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	11/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG02155.hp2 others(1): Show HG00733.hp1 HG01069.hp2 HG02155.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0159	4	28	0.1429	24	c.796 others(41): Show c.796+7895_796+7918dupTTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKIL_chr3_170352715_170401835	170387504	T T	TTGCATGT others(17): Show TTGCATGTACCAGTTGCATGTACCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0331 a0002c0002t0041g0331	1	360	0.0028	24	c.143 others(43): Show c.1430-2717_1430-2716insCATGTACCAGTTGCATGTACCATG	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SKOR1_chr15_67820509_67839582	67831903	C C	CCGGGGGG others(17): Show CCGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	358	0.0028	24	c.258 others(41): Show c.2588-371_2588-370insCGGGGGGGGGGGGGGGGGGGGGGG	SKOR1	ENSG00000188779.12	transcript	ENST00000380035.3	protein_coding	5/8			chr15	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG01884.hp2 others(1): Show HG01123.hp1 HG01243.hp1 HG01884.hp2 HG02257.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0003 a0008c0013t0003 a0001c0001t0003 a0008c0013t0003	a0001c0001t0003g0028 a0001c0001t0003g0229 a0008c0013t0003g0141 a0001c0001t0003g0028 a0001c0001t0003g0229 a0008c0013t0003g0141	4	100	0.0400	24	c.267 others(39): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAAAAA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01952.hp2 others(7): Show HG01070.hp2 HG01074.hp1 HG01952.hp2 HG02004.hp1 HG02132.hp2 HG03139.hp2 HG03834.hp2 NA18983.hp2 NA19004.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0073 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0320 a0001c0001t0002g0259	10	104	0.0962	24	c.46 others(35): Show c.4686_*4709dupGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(17): Show TACATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	95	0.0105	24	c.47 others(35): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(17): Show TACATACATACATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01258.hp2 HG02886.hp1 others(2): Show HG00323.hp2 HG01258.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0001g0186 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0128 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0253 a0001c0001t0002g0292	5	99	0.0505	24	c.47 others(35): Show c.4709_*4710insGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86837221	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0039 a0008c0008t0001g0039	1	313	0.0032	24	c.378 others(41): Show c.378-3798_378-3797insTTCTTTCTTTCTTTCTTTCTTTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837285	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	262	0.0038	24	c.378 others(41): Show c.378-3862_378-3861insCTTTTTCTTTCTTTCTTTCTTTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837285	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAGAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02897.hp1 HG03453.hp1 HG00621.hp1 HG02897.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0035 a0001c0001t0002g0248 a0001c0001t0002g0254	3	264	0.0114	24	c.378 others(41): Show c.378-3862_378-3861insCTTTTTCTCTCTTTCTTTCTTTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	299	0.0033	24	c.378 others(41): Show c.378-3863_378-3862insCCTTTCTTTTTCTTTCTTTCTTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837286	A A	AGAAAGAA others(17): Show AGAAAGAAAGAGAGAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	299	0.0033	24	c.378 others(41): Show c.378-3863_378-3862insCCTTTCTTTTTCTCTCTTTCTTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar

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