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
SHTN1_chr10_116876477_117010187	116983633	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG01891.hp1 others(5): Show HG00735.hp2 HG01884.hp1 HG01891.hp1 HG02559.hp2 HG02976.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0026 a0001c0002t0042 others(1): Show a0001c0002t0016 a0001c0002t0026 a0001c0002t0042 a0001c0002t0043	a0001c0002t0016g0005 a0001c0002t0016g0139 a0001c0002t0016g0142 others(4): Show a0001c0002t0016g0005 a0001c0002t0016g0139 a0001c0002t0016g0142 a0001c0002t0026g0140 a0001c0002t0026g0141 a0001c0002t0042g0136 a0001c0002t0043g0138	8	277	0.0289	-20	c.59- others(35): Show c.59-4345_59-4326delATCTATCTATCTATCTATCT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116983671	GATAGATA others(13): Show GATAGATAGATAGATAAATAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01952.hp1 HG02083.hp2 others(16): Show HG00741.hp1 HG01952.hp1 HG02083.hp2 HG02132.hp2 HG02257.hp1 HG02698.hp1 HG03486.hp2 HG03491.hp1 HG03688.hp1 HG03942.hp2 NA18612.hp1 NA18952.hp2 NA18956.hp1 NA18975.hp1 NA18989.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0054 a0001c0001t0063 a0001c0001t0066	a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0077 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0006g0037 a0001c0001t0006g0054 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0011g0072 a0001c0001t0054g0092 a0001c0001t0063g0055 a0001c0001t0066g0059	19	290	0.0655	-20	c.59- others(35): Show c.59-4383_59-4364delGTATTTATCTATCTATCTAT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116983675	GATAGATA others(13): Show GATAGATAGATAAATACATAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0050	1	261	0.0038	-20	c.59- others(35): Show c.59-4387_59-4368delGTATGTATTTATCTATCTAT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116983679	GATAGATA others(13): Show GATAGATAAATACATACATAC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01258.hp2 others(3): Show HG01175.hp2 HG01256.hp2 HG01258.hp2 HG02258.hp2 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0032 a0001c0001t0045 others(1): Show a0001c0001t0025 a0001c0001t0032 a0001c0001t0045 a0001c0001t0051	a0001c0001t0025g0151 a0001c0001t0025g0152 a0001c0001t0032g0008 others(2): Show a0001c0001t0025g0151 a0001c0001t0025g0152 a0001c0001t0032g0008 a0001c0001t0045g0282 a0001c0001t0051g0239	6	187	0.0321	-20	c.59- others(35): Show c.59-4391_59-4372delGTATGTATGTATTTATCTAT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SIDT2_chr11_117173743_117202442	117174164	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	90	0.0111	-20	c.-50 others(31): Show c.-5099_-5080delTGTGTGTGTGTGTGTGTGTG	SIDT2	ENSG00000149577.17	transcript	ENST00000324225.9	protein_coding		4578		chr11	TogoVar
SIGIRR_chr11_400716_419999	415207	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0096 a0001c0006t0001g0096	1	10	0.1000	-20	c.-55 others(29): Show c.-558_-539delACACACACACACACACACAC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		209		chr11	TogoVar
SIGLEC12_chr19_51486227_51506800	51495393	ATGGATGG others(13): Show ATGGATGGGTGGGTGGGTGGG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0052 a0003c0052	a0003c0052t0002 a0003c0052t0002	a0003c0052t0002g0157 a0003c0052t0002g0157	1	430	0.0023	-20	c.159 others(39): Show c.1599+1467_1599+1486delCCCACCCACCCACCCATCCA	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	7/7			chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51495401	GTGGGTGG others(13): Show GTGGGTGGGTGGGTGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0129 a0002c0001t0003g0129	1	430	0.0023	-20	c.159 others(39): Show c.1599+1459_1599+1478delTCCATCCACCCACCCACCCA	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	7/7			chr19	TogoVar
SIGLEC15_chr18_45820675_45849094	45825159	GGAGGGAG others(13): Show GGAGGGAGGGAGGGAGGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01081.hp2 others(20): Show HG00438.hp1 HG00544.hp2 HG01081.hp2 HG01261.hp2 HG01978.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp2 NA18947.hp2 NA18951.hp2 NA18955.hp2 NA18982.hp2 NA18986.hp2 NA18991.hp1 NA18997.hp2 NA18999.hp1 NA19057.hp1 NA19083.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0009 a0001c0001t0001 a0002c0003t0009	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0001t0001g0095 a0002c0003t0009g0082	23	412	0.0558	-20	c.-56 others(29): Show c.-569_-550delGAGGGAGGGAGGGAGGAAGA	SIGLEC15	ENSG00000197046.12	transcript	ENST00000389474.8	protein_coding		515		chr18	TogoVar
SIGLEC5_chr19_51605960_51635401	51628841	GTGTGCAT others(13): Show GTGTGCATGTGTGCGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0012 a0002c0028t0012	a0002c0028t0012g0178 a0002c0028t0012g0178	1	411	0.0024	-20	c.739 others(35): Show c.739+177_739+196delTACACACGCACACATGCACA	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	4/8			chr19	TogoVar
SIK2_chr11_111597449_111735855	111658090	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG03209.hp2 HG02886.hp1 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0060 a0001c0001t0015 a0001c0001t0060	a0001c0001t0015g0099 a0001c0001t0015g0100 a0001c0001t0060g0103 a0001c0001t0015g0099 a0001c0001t0015g0100 a0001c0001t0060g0103	3	41	0.0732	-20	c.317 others(39): Show c.317-29879_317-29860delATTTATTTATTTATTTATTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK2_chr11_111597449_111735855	111692350	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02451.hp2 HG02523.hp2 others(1): Show HG00733.hp1 HG02451.hp2 HG02523.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0040 a0001c0001t0047	a0001c0001t0001g0038 a0001c0001t0011g0026 a0001c0001t0040g0039 others(1): Show a0001c0001t0001g0038 a0001c0001t0011g0026 a0001c0001t0040g0039 a0001c0001t0047g0037	4	10	0.4000	-20	c.478 others(37): Show c.478+4207_478+4226delAAAAAAAAAAAAAAAAAAAA	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK2_chr11_111597449_111735855	111729976	CGGCATCA others(13): Show CGGCATCAGGCCACCACTGCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02280.hp1 others(6): Show HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02486.hp1 HG02970.hp2 HG02976.hp1 HG03453.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0031 others(1): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0031 a0001c0001t0051	a0001c0001t0010g0077 a0001c0001t0010g0078 a0001c0001t0010g0079 others(6): Show a0001c0001t0010g0077 a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0010g0081 a0001c0001t0010g0082 a0001c0001t0016g0075 a0001c0001t0016g0076 a0001c0001t0031g0080 a0001c0001t0051g0005	9	196	0.0459	-20	c.58 others(31): Show c.5851_*5870delATCAGGCCACCACTGCAGGC	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	15/15	5851	INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116938538	AAGGGGAG others(13): Show AAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	120	0.0083	-20	c.455 others(39): Show c.455-11178_455-11159delCCCCTCCCCTCCCCTCCCCT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938572	GGAGGGGA others(13): Show GGAGGGGAGGGGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03130.hp2 HG03579.hp2 HG01074.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0190 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0190	3	361	0.0083	-20	c.455 others(39): Show c.455-11212_455-11193delTCCTCTCCTCCCCTCCCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938602	AGAGGAGA others(13): Show AGAGGAGAGGAGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	342	0.0029	-20	c.455 others(39): Show c.455-11242_455-11223delCCCTCCCCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116965734	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG00639.hp2 others(29): Show HG00323.hp2 HG00609.hp2 HG00639.hp2 HG01074.hp2 HG01243.hp1 HG01891.hp1 HG02040.hp1 HG02080.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp2 HG02976.hp1 HG03195.hp2 NA18947.hp2 NA18965.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19064.hp1 NA19072.hp1 NA19072.hp2 NA19080.hp1 NA19087.hp1 NA19088.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0022 a0001c0001 a0018c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 a0018c0022t0003	a0001c0001t0001g0066 a0001c0001t0001g0150 a0001c0001t0001g0155 others(29): Show a0001c0001t0001g0066 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0205 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0281 a0001c0001t0021g0136 a0001c0001t0022g0159 a0018c0022t0003g0148	32	97	0.3299	-20	c.274 others(37): Show c.274-8690_274-8671delATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139028495	CACAAAAC others(13): Show CACAAAACAAAACAAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0103 a0002c0006t0001g0103	1	48	0.0208	-20	c.454 others(37): Show c.454-1523_454-1504delTTTGTTTTGTTTTGTTTTGT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	5/9			chr5	TogoVar
SIL1_chr5_138941724_139203368	139145629	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0084 a0001c0002t0001g0118 a0001c0002t0001g0004 a0001c0002t0001g0084 a0001c0002t0001g0118	3	7	0.4286	-20	c.-10 others(39): Show c.-10-17796_-10-17777delACACACACACACACACACAC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100412683	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02071.hp2 NA18963.hp2 others(1): Show HG01070.hp1 HG02071.hp2 NA18963.hp2 NA18994.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0019 a0003c0004t0003 a0001c0001t0003 a0001c0001t0019 a0003c0004t0003	a0001c0001t0003g0128 a0001c0001t0003g0210 a0001c0001t0019g0019 others(1): Show a0001c0001t0003g0128 a0001c0001t0003g0210 a0001c0001t0019g0019 a0003c0004t0003g0032	4	154	0.0260	-20	c.116 others(39): Show c.1167+8087_1167+8106delCTTTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp2 HG02615.hp2 others(6): Show HG00544.hp1 HG01168.hp2 HG02615.hp2 HG02922.hp1 HG03471.hp2 HG03540.hp1 NA18950.hp2 NA18986.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0059 a0001c0001t0071 a0002c0002t0001	a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0204 others(6): Show a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0204 a0001c0001t0003g0177 a0001c0001t0006g0018 a0001c0001t0059g0180 a0001c0001t0071g0014 a0002c0002t0001g0122 a0002c0002t0001g0139	9	48	0.1875	-20	c.176 others(37): Show c.176-4182_176-4163delGAGAGAGAGAGAGAGAGAGA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11			chr6	TogoVar
SIPA1L1_chr14_71315476_71746209	71476649	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00597.hp2 others(24): Show HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp2 HG01934.hp1 HG02257.hp2 HG02602.hp1 HG03834.hp2 HG04184.hp2 NA18522.hp1 NA18957.hp2 NA18960.hp1 NA18993.hp1 NA19001.hp1 NA19005.hp1 NA19007.hp2 NA19074.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0008 others(1): Show a0001c0002 a0001c0003 a0001c0008 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0008t0001 a0002c0005t0001	a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 others(24): Show a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0002g0120 a0001c0002t0002g0139 a0001c0002t0006g0142 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0008t0001g0136 a0002c0005t0001g0165 a0002c0005t0001g0166	27	93	0.2903	-20	c.-46 others(41): Show c.-464-36070_-464-36051delATTTATTTATTTATTTATTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71700994	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00735.hp2 others(3): Show HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01192.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0137 a0001c0003t0001g0128 a0001c0003t0001g0129 others(3): Show a0001c0002t0001g0137 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0143	6	18	0.3333	-20	c.352 others(39): Show c.3522-1366_3522-1347delAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232427612	GCTAAATC others(13): Show GCTAAATCGCCTTTAAGTCCT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0137 a0001c0003t0006g0003 a0001c0003t0001g0137 a0001c0003t0006g0003	2	290	0.0069	-20	c.441 others(37): Show c.4410+779_4410+798delAGGACTTAAAGGCGATTTAG	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	17/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232541242	TAACATTA others(13): Show TAACATTAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0290 a0001c0005t0003g0290	1	278	0.0036	-20	c.-26 others(41): Show c.-269-25654_-269-25635delTGTTATGTTATGTTAATGTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232541247	TTAACATA others(13): Show TTAACATAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00639.hp2 others(20): Show HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00673.hp2 HG01517.hp1 HG01993.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02723.hp1 HG03491.hp1 HG03688.hp2 HG04184.hp2 NA18939.hp1 NA18948.hp1 NA18950.hp1 NA18965.hp1 NA18973.hp2 NA18978.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19011.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0012 a0013 a0014 a0015 a0021	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0050 a0002c0023 a0002c0036 a0003c0004 a0003c0013 a0004c0019 a0007c0034 a0007c0037 a0012c0056 a0013c0061 a0014c0052 a0015c0041 a0021c0064	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0050t0004 a0002c0023t0002 a0002c0036t0001 a0003c0004t0001 a0003c0013t0001 a0004c0019t0001 a0004c0019t0003 a0007c0034t0003 a0007c0037t0003 a0012c0056t0001 a0013c0061t0002 a0014c0052t0001 a0015c0041t0005 a0021c0064t0003	a0001c0001t0001g0093 a0001c0002t0001g0144 a0001c0003t0001g0227 others(20): Show a0001c0001t0001g0093 a0001c0002t0001g0144 a0001c0003t0001g0227 a0001c0003t0002g0024 a0001c0003t0004g0135 a0001c0005t0001g0178 a0001c0005t0001g0212 a0001c0005t0002g0062 a0001c0005t0003g0236 a0001c0050t0004g0213 a0002c0023t0002g0071 a0002c0036t0001g0150 a0003c0004t0001g0131 a0003c0013t0001g0190 a0004c0019t0001g0224 a0004c0019t0003g0249 a0007c0034t0003g0231 a0007c0037t0003g0230 a0012c0056t0001g0114 a0013c0061t0002g0063 a0014c0052t0001g0115 a0015c0041t0005g0070 a0021c0064t0003g0258	23	86	0.2674	-20	c.-26 others(41): Show c.-269-25659_-269-25640delTGTTATGTTATGTTATGTTA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232564234	TCGTGTGT others(13): Show TCGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG03139.hp1 others(1): Show HG02258.hp2 HG02280.hp1 HG03139.hp1 NA18522.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0014 a0008c0071 a0001c0003 a0008c0014 a0008c0071	a0001c0003t0001 a0008c0014t0013 a0008c0071t0021 a0001c0003t0001 a0008c0014t0013 a0008c0071t0021	a0001c0003t0001g0083 a0001c0003t0001g0118 a0008c0014t0013g0279 others(1): Show a0001c0003t0001g0083 a0001c0003t0001g0118 a0008c0014t0013g0279 a0008c0071t0021g0276	4	279	0.0143	-20	c.-27 others(39): Show c.-270+9920_-270+9939delCACACACACACACACACACG	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232572702	TATATATA others(13): Show TATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02273.hp2 HG02129.hp2 HG02273.hp2	a0003 a0004 a0003 a0004	a0003c0015 a0004c0010 a0003c0015 a0004c0010	a0003c0015t0001 a0004c0010t0001 a0003c0015t0001 a0004c0010t0001	a0003c0015t0001g0147 a0004c0010t0001g0120 a0003c0015t0001g0147 a0004c0010t0001g0120	2	290	0.0069	-20	c.-27 others(39): Show c.-270+1452_-270+1471delGTGTGTATATATATATATAT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37918871	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	126	0.0079	-20	c.-37 others(41): Show c.-379+11541_-379+11560delTAAATAAATAAATAAATAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38050391	GGTTGAAG others(13): Show GGTTGAAGTGAGCCAAGATCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00558.hp1 others(76): Show HG00099.hp1 HG00140.hp2 HG00558.hp1 HG00642.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18948.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0009 a0012 a0015 a0017 a0019 a0020 a0021	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0030 a0001c0033 a0002c0002 a0002c0014 a0002c0015 a0003c0005 a0003c0012 a0005c0007 a0005c0017 a0007c0008 a0009c0018 a0012c0021 a0015c0034 a0017c0028 a0019c0027 a0020c0037 a0021c0023	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(31): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0004t0003 a0001c0004t0013 a0001c0030t0001 a0001c0033t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0002c0002t0020 a0002c0014t0014 a0002c0015t0004 a0003c0005t0003 a0003c0005t0011 a0003c0012t0003 a0005c0007t0002 a0005c0017t0002 a0007c0008t0002 a0007c0008t0008 a0009c0018t0016 a0012c0021t0003 a0015c0034t0001 a0017c0028t0001 a0019c0027t0003 a0020c0037t0001 a0021c0023t0002	a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0079 others(76): Show a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0159 a0001c0001t0005g0058 a0001c0001t0005g0114 a0001c0001t0005g0122 a0001c0001t0006g0059 a0001c0001t0006g0072 a0001c0001t0019g0022 a0001c0003t0001g0144 a0001c0003t0001g0153 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0124 a0001c0003t0005g0073 a0001c0003t0007g0067 a0001c0004t0003g0032 a0001c0004t0003g0033 a0001c0004t0003g0070 a0001c0004t0003g0100 a0001c0004t0003g0158 a0001c0004t0013g0089 a0001c0030t0001g0080 a0001c0033t0005g0131 a0002c0002t0001g0014 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0074 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0028 a0002c0002t0002g0051 a0002c0002t0003g0017 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0002t0008g0031 a0002c0002t0008g0082 a0002c0002t0015g0117 a0002c0002t0020g0038 a0002c0014t0014g0035 a0002c0015t0004g0076 a0003c0005t0003g0109 a0003c0005t0011g0030 a0003c0005t0011g0163 a0003c0012t0003g0160 a0003c0012t0003g0161 a0005c0007t0002g0090 a0005c0007t0002g0126 a0005c0017t0002g0118 a0007c0008t0002g0135 a0007c0008t0002g0137 a0007c0008t0008g0002 a0009c0018t0016g0155 a0012c0021t0003g0015 a0015c0034t0001g0081 a0017c0028t0001g0040 a0019c0027t0003g0075 a0020c0037t0001g0129 a0021c0023t0002g0019	79	162	0.4877	-20	c.-31 others(41): Show c.-311+21236_-311+21255delGTTGAAGTGAGCCAAGATCA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21			chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38071201	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02486.hp1 HG02132.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0008 a0002c0002t0003 a0002c0002t0008	a0002c0002t0003g0025 a0002c0002t0008g0031 a0002c0002t0003g0025 a0002c0002t0008g0031	2	27	0.0741	-20	c.-31 others(40): Show c.-310-10009_-310-9990delATCTATCTATCTATCTATCT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT1_chr10_67879656_67923390	67911778	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01081.hp1 others(23): Show HG00642.hp2 HG01070.hp2 HG01081.hp1 HG01433.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 others(1): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 a0004c0011t0012	a0001c0001t0004g0006 a0001c0001t0004g0014 a0001c0001t0004g0038 others(20): Show a0001c0001t0004g0006 a0001c0001t0004g0014 a0001c0001t0004g0038 a0001c0001t0004g0043 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0124 a0001c0001t0012g0106 a0001c0001t0012g0125 a0001c0001t0025g0006 a0004c0011t0012g0340	26	408	0.0637	-20	c.135 others(37): Show c.1358-679_1358-660delCTATCCTCCCTCCCTCCCTC	SIRT1	ENSG00000096717.12	transcript	ENST00000212015.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SI_chr3_164973898_165083496	164989352	AGAAGAAA others(13): Show AGAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0111 a0004c0004t0004g0111	1	264	0.0038	-20	c.510 others(39): Show c.5108+1981_5108+2000delCTTTCTTTCTTTCTTTCTTC	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	164989369	AAAGGAAG others(13): Show AAAGGAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG03471.hp2 HG02572.hp2 HG03209.hp1 HG03471.hp2	a0002 a0018 a0002 a0018	a0002c0006 a0018c0032 a0002c0006 a0018c0032	a0002c0006t0003 a0018c0032t0003 a0002c0006t0003 a0018c0032t0003	a0002c0006t0003g0254 a0002c0006t0003g0255 a0018c0032t0003g0201 a0002c0006t0003g0254 a0002c0006t0003g0255 a0018c0032t0003g0201	3	260	0.0115	-20	c.510 others(39): Show c.5108+1964_5108+1983delCCTTTCTTTCTTTCTTCCTT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	164989373	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG03654.hp1 others(3): Show HG02886.hp2 HG03098.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp1 NA18975.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0021 a0002c0002 others(1): Show a0001c0001 a0001c0021 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0021t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0021t0001 a0002c0002t0002 a0005c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0122 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0021t0001g0024 a0002c0002t0002g0231 a0005c0005t0001g0169	6	234	0.0256	-20	c.510 others(39): Show c.5108+1960_5108+1979delTCTTCCTTTCTTTCTTTCTT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	44/47			chr3	TogoVar
SI_chr3_164973898_165083496	165073170	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01261.hp2 others(7): Show HG00140.hp2 HG01099.hp2 HG01261.hp2 HG01516.hp1 HG02135.hp2 HG02155.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 NA21309.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0016c0031	a0001c0001t0001 a0002c0002t0002 a0002c0006t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0006t0001 a0002c0006t0002 a0016c0031t0003	a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 others(7): Show a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0002c0002t0002g0177 a0002c0002t0002g0233 a0002c0006t0001g0210 a0002c0006t0001g0211 a0002c0006t0002g0221 a0002c0006t0002g0222 a0016c0031t0003g0205	10	24	0.4167	-20	c.255 others(37): Show c.255+1341_255+1360delGAGAGAGAGAGAGAGAGAGA	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	3/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48220863	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01891.hp2 HG00733.hp1 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0143 a0002c0004t0001g0222 a0001c0001t0001g0143 a0002c0004t0001g0222	2	290	0.0069	-20	c.281 others(39): Show c.281-31383_281-31364delCTTTTCTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48224033	AGAAGAAG others(13): Show AGAAGAAGGAGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	290	0.0034	-20	c.281 others(39): Show c.281-34553_281-34534delCCTCCTCCTCCTCCTTCTTC	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48287098	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	170	0.0059	-20	c.280 others(39): Show c.280+58787_280+58806delATTTATTTATTTATTTATTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48361071	GTACTATA others(13): Show GTACTATACTATACTATACTA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	77	0.0130	-20	c.178 others(37): Show c.178+2698_178+2717delTAGTATAGTATAGTATAGTA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	3/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48405438	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18945.hp1 HG02602.hp2 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0085 a0001c0003t0001g0065 a0001c0003t0001g0085	2	287	0.0070	-20	c.47- others(35): Show c.47-8673_47-8654delGAAAGAAAAGAAAGAAAGAA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26701738	TAAATAAA others(13): Show TAAATAAATAAATAAATAAAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp1 others(6): Show HG00741.hp2 HG01167.hp1 HG01169.hp1 HG02258.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp1 HG03139.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(5): Show a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0007	9	294	0.0306	-20	c.797 others(39): Show c.797-11396_797-11377delGTTTATTTATTTATTTATTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26741560	AAATAAAT others(13): Show AAATAAATAAATAAATAAATT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19064.hp1 NA18943.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0041 a0001c0001t0001g0042	2	294	0.0068	-20	c.308 others(37): Show c.308-1616_308-1597delAATTTATTTATTTATTTATT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKIC3_chr5_95458894_95559977	95492636	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAGAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02622.hp1 others(9): Show HG01099.hp2 HG01891.hp1 HG02622.hp1 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp2 NA19079.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0023 a0001c0001 a0002c0002 a0002c0023	a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 a0002c0023t0003	a0001c0001t0001g0044 a0001c0001t0004g0050 a0001c0001t0004g0052 others(9): Show a0001c0001t0001g0044 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0002c0002t0003g0025 a0002c0002t0003g0180 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0189 a0002c0023t0003g0179	12	170	0.0706	-20	c.380 others(39): Show c.3803-1620_3803-1601delTTTTCTTTTTTTTTTTTTTT	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42			chr5	TogoVar
SKIL_chr3_170352715_170401835	170400739	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02165.hp1 NA19005.hp2 others(2): Show HG00735.hp2 HG02165.hp1 NA19005.hp2 NA19066.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0073 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0073 a0001c0001t0078 a0001c0001t0079	a0001c0001t0002g0044 a0001c0001t0007g0200 a0001c0001t0073g0076 others(2): Show a0001c0001t0002g0044 a0001c0001t0007g0200 a0001c0001t0073g0076 a0001c0001t0078g0066 a0001c0001t0079g0058	5	209	0.0239	-20	c.83 others(31): Show c.8323_*8342delTCTTTCTTTCTTTCTTTCTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		3905		chr3	TogoVar
SKI_chr1_2223319_2315213	2280950	AGGACGCC others(13): Show AGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG01981.hp2 others(6): Show HG00733.hp2 HG01261.hp2 HG01981.hp2 HG02165.hp1 HG02717.hp2 HG02886.hp1 HG03486.hp1 HG03710.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0055 a0001c0003t0001 a0001c0003t0009	a0001c0001t0001g0118 a0001c0001t0002g0048 a0001c0001t0002g0204 others(6): Show a0001c0001t0001g0118 a0001c0001t0002g0048 a0001c0001t0002g0204 a0001c0001t0003g0210 a0001c0001t0005g0152 a0001c0001t0007g0306 a0001c0001t0055g0316 a0001c0003t0001g0174 a0001c0003t0009g0172	9	278	0.0324	-20	c.970 others(39): Show c.970-22025_970-22006delACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280993	AGGACGCC others(13): Show AGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02055.hp2 HG03669.hp1 others(7): Show HG00642.hp2 HG02055.hp2 HG03669.hp1 NA18612.hp2 NA18942.hp1 NA18948.hp2 NA18998.hp1 NA19011.hp1 NA19057.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0022 a0001c0001t0070	a0001c0001t0001g0034 a0001c0001t0001g0236 a0001c0001t0002g0036 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0236 a0001c0001t0002g0036 a0001c0001t0003g0037 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0010g0209 a0001c0001t0022g0090 a0001c0001t0070g0023	10	289	0.0346	-20	c.970 others(39): Show c.970-21982_970-21963delACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281036	AGGACGCC others(13): Show AGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03942.hp2 HG02280.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0064 a0001c0001t0004 a0001c0001t0064	a0001c0001t0004g0326 a0001c0001t0064g0313 a0001c0001t0004g0326 a0001c0001t0064g0313	2	242	0.0083	-20	c.970 others(39): Show c.970-21939_970-21920delACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281077	AGCGGACG others(13): Show AGCGGACGCCCGAGAAGACAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02155.hp2 HG02698.hp2 others(1): Show HG02055.hp2 HG02155.hp2 HG02698.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0037	a0001c0001t0001g0236 a0001c0001t0006g0285 a0001c0001t0009g0309 others(1): Show a0001c0001t0001g0236 a0001c0001t0006g0285 a0001c0001t0009g0309 a0001c0001t0037g0213	4	328	0.0122	-20	c.970 others(39): Show c.970-21896_970-21877delACGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281122	AGGATGCC others(13): Show AGGATGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03017.hp2 HG03453.hp1 others(1): Show HG01109.hp2 HG03017.hp2 HG03453.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0063 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0063 a0001c0001t0085	a0001c0001t0001g0286 a0001c0001t0002g0104 a0001c0001t0063g0312 others(1): Show a0001c0001t0001g0286 a0001c0001t0002g0104 a0001c0001t0063g0312 a0001c0001t0085g0287	4	308	0.0130	-20	c.970 others(39): Show c.970-21853_970-21834delATGCCCGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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