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
SUMO3_chr21_44800617_44823062	44817876	G G	GTGGGGGC others(10): Show GTGGGGGCGGAGCCGGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	404	0.0025	17	c.21+ others(28): Show c.21+55_21+71dupGCCCGGCTCCGCCCCCA	SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding	1/3			chr21	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp2 HG01261.hp1 others(27): Show HG00733.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01975.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02258.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02897.hp2 HG03041.hp1 HG03209.hp1 HG03654.hp1 HG03834.hp2 HG04199.hp2 NA18906.hp1 NA18952.hp2 NA18953.hp1 NA18963.hp2 NA18969.hp2 NA18977.hp2 NA19005.hp2 NA19030.hp2 NA19057.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0003c0003t0001g0289 a0004c0004t0001g0092	30	78	0.3846	17	c.212 others(32): Show c.212-242_212-241insAGAAAGAAAGAAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG01106.hp1 others(22): Show HG00609.hp2 HG00733.hp2 HG01106.hp1 HG01346.hp1 HG01496.hp1 HG01978.hp2 HG02015.hp1 HG02056.hp2 HG02258.hp1 HG02572.hp1 HG02965.hp1 HG03225.hp2 HG03579.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 NA18949.hp1 NA18992.hp1 NA19006.hp1 NA19030.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0020 a0001c0004t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 others(22): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0004g0180 a0001c0001t0004g0215 a0001c0001t0019g0214 a0001c0001t0020g0246 a0001c0004t0001g0072	25	130	0.1923	17	c.912 others(34): Show c.912+3754_912+3770dupTTTTTTTTTTTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(10): Show CAAAATAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	106	0.0094	17	c.912 others(34): Show c.912+3770_912+3771insTTTTTTTTTTTTATTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	44928904	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	249	0.0040	17	c.912 others(34): Show c.912+3748_912+3749insCTTTTTTTTTTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45113827	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0021 a0003c0005t0021	a0003c0005t0021g0260 a0003c0005t0021g0260	1	84	0.0119	17	c.102 others(34): Show c.102-7838_102-7822dupTTTTTTTTTTTTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45158298	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02622.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0011 a0001c0001t0005g0012	2	66	0.0303	17	c.102 others(36): Show c.102-52293_102-52292insAAAAAAAAAAATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45158298	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	65	0.0154	17	c.102 others(36): Show c.102-52293_102-52292insAAAAAAAAAAAAATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT5H_chr19_39440582_39481670	39445081	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG03017.hp1 HG03669.hp1 others(1): Show HG00621.hp1 HG03017.hp1 HG03669.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0017 a0001c0001 a0001c0010 a0001c0017	a0001c0001t0001 a0001c0010t0001 a0001c0017t0001 a0001c0001t0001 a0001c0010t0001 a0001c0017t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0010t0001g0185 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0010t0001g0185 a0001c0017t0001g0027	4	129	0.0310	17	c.-64 others(26): Show c.-644_-643insAAAAAAAAAAAAAAAAA	SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding		500		chr19	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp1 HG01361.hp1 others(2): Show HG01074.hp1 HG01261.hp1 HG01361.hp1 HG02132.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0002g0061 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0003t0001g0059	5	7	0.7143	17	c.-32 others(34): Show c.-32+1487_-32+1503dupTTTTTTTTTTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SURF1_chr9_133346758_133361487	133356764	G G	GAGGGGAG others(10): Show GAGGGGAGAGGGGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	442	0.0023	17	c.-32 others(26): Show c.-328_-312dupGCTCTCCCCTCTCCCCT	SURF1	ENSG00000148290.10	transcript	ENST00000371974.8	protein_coding		278		chr9	TogoVar
SURF2_chr9_133351550_133366158	133356764	G G	GAGGGGAG others(10): Show GAGGGGAGAGGGGAGAGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	446	0.0022	17	c.78+ others(29): Show c.78+98_78+114dupGGAGAGGGGAGAGCAGG	SURF2	ENSG00000148291.10	transcript	ENST00000371964.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SURF4_chr9_133356464_133381060	133356764	G G	GAGGGGAG others(10): Show GAGGGGAGAGGGGAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	422	0.0024	17	c.67 others(28): Show c.6712_*6728dupGCTCTCCCCTCTCCCCT	SURF4	ENSG00000148248.14	transcript	ENST00000371989.8	protein_coding		4699		chr9	TogoVar
SUSD1_chr9_112035783_112180297	112040425	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01255.hp1 others(8): Show HG00639.hp2 HG01106.hp1 HG01255.hp1 HG01256.hp2 HG01978.hp1 HG02056.hp1 HG02129.hp1 HG03225.hp1 HG03239.hp2 NA18990.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0185 a0001c0001t0001g0259 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0003g0019 a0001c0001t0003g0270 a0001c0001t0003g0322	11	110	0.1000	17	c.10 others(28): Show c.1066_*1067insTTTTTTTTTTTTTTTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding		357		chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165910	G G	GAAGAAAG others(10): Show GAAGAAAGAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0178 a0001c0001t0001g0078 a0001c0001t0001g0178	2	306	0.0065	17	c.104 others(34): Show c.104-8298_104-8297insTCTTTCTTTTCTTTCTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223224862	C C	CTTCTTTT others(10): Show CTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	13	0.0769	17	c.106 others(36): Show c.1062-1232_1062-1231insAAAAAAAAAAAAAAGAA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	7/8			chr1	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02922.hp2 HG01891.hp2 HG02486.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0006 a0001c0001t0003 a0002c0004t0006	a0001c0001t0003g0262 a0002c0004t0006g0230 a0002c0004t0006g0264 a0001c0001t0003g0262 a0002c0004t0006g0230 a0002c0004t0006g0264	3	30	0.1000	17	c.410 others(34): Show c.410-8873_410-8857dupAAAAAAAAAAAAAAAAA	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SV2B_chr15_91095257_91307565	91125781	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp2 others(16): Show HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG02451.hp2 HG03225.hp1 HG03239.hp1 HG03710.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0021 a0001c0001t0049 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0004t0023 a0001c0006t0004 a0001c0007t0002 a0001c0007t0048 a0002c0011t0001	a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0178 others(16): Show a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0178 a0001c0001t0003g0065 a0001c0001t0005g0166 a0001c0001t0012g0003 a0001c0001t0021g0152 a0001c0001t0049g0144 a0001c0001t0057g0153 a0001c0001t0059g0154 a0001c0001t0062g0176 a0001c0004t0023g0182 a0001c0006t0004g0002 a0001c0007t0002g0040 a0001c0007t0002g0147 a0001c0007t0002g0187 a0001c0007t0048g0195 a0002c0011t0001g0177 a0002c0011t0001g0180	19	151	0.1258	17	c.-39 others(38): Show c.-392+25421_-392+25437dupAAAAAAAAAAAAAAAAA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91134004	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0043 a0001c0020t0043	a0001c0020t0043g0053 a0001c0020t0043g0053	1	54	0.0185	17	c.-39 others(38): Show c.-392+33653_-392+33654insTTTTTTTTTTTTTTTTT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91158733	C C	CCTCTCCT others(10): Show CCTCTCCTCTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02615.hp1 others(1): Show HG01243.hp1 HG02145.hp1 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0012 a0001c0003t0004 a0001c0006t0004 others(1): Show a0001c0001t0012 a0001c0003t0004 a0001c0006t0004 a0001c0007t0002	a0001c0001t0012g0018 a0001c0003t0004g0023 a0001c0006t0004g0019 others(1): Show a0001c0001t0012g0018 a0001c0003t0004g0023 a0001c0006t0004g0019 a0001c0007t0002g0016	4	165	0.0242	17	c.-39 others(38): Show c.-392+58374_-392+58375insCCTCTTCTCTCTTCTCT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91191063	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp1 HG02683.hp2 others(7): Show HG01358.hp2 HG01891.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp2 HG03239.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0061 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0061 a0001c0002t0001 a0001c0004t0023 a0001c0005t0007 a0001c0008t0001	a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0001t0001g0172 others(7): Show a0001c0001t0001g0114 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0003g0089 a0001c0001t0003g0173 a0001c0001t0061g0031 a0001c0002t0001g0101 a0001c0004t0023g0094 a0001c0005t0007g0027 a0001c0008t0001g0081	10	136	0.0735	17	c.-39 others(38): Show c.-391-34805_-391-34789dupTTTTTTTTTTTTTTTTT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76142903	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp1 HG01891.hp1 others(4): Show HG00733.hp2 HG01361.hp1 HG01891.hp1 HG02257.hp1 HG02738.hp2 NA19030.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0006 a0001c0002t0036 a0001c0002t0089 others(3): Show a0001c0002t0006 a0001c0002t0036 a0001c0002t0089 a0001c0002t0102 a0001c0002t0104 a0003c0004t0069	a0001c0002t0006g0180 a0001c0002t0006g0196 a0001c0002t0036g0179 others(4): Show a0001c0002t0006g0180 a0001c0002t0006g0196 a0001c0002t0036g0179 a0001c0002t0089g0081 a0001c0002t0102g0234 a0001c0002t0104g0020 a0003c0004t0069g0022	7	199	0.0352	17	c.580 others(36): Show c.580+10582_580+10583insTTTTTTTTTTTTTTTTT	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76223906	C C	CGTGGTGG others(10): Show CGTGGTGGGGATGGGGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02896.hp2 others(2): Show HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03209.hp2 HG03486.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0013 a0001c0001t0065 a0001c0001t0068 others(2): Show a0001c0001t0013 a0001c0001t0065 a0001c0001t0068 a0002c0003t0080 a0003c0004t0066	a0001c0001t0013g0085 a0001c0001t0065g0233 a0001c0001t0068g0092 others(2): Show a0001c0001t0013g0085 a0001c0001t0065g0233 a0001c0001t0068g0092 a0002c0003t0080g0084 a0003c0004t0066g0086	5	232	0.0216	17	c.913 others(36): Show c.913+14029_913+14045dupATGGGGAAGTGGTGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110403296	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG03195.hp2 others(5): Show HG00673.hp1 HG02040.hp1 HG03195.hp2 HG03942.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp2 NA19065.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0015 a0094 a0101	a0001c0002 a0002c0001 a0005c0006 others(3): Show a0001c0002 a0002c0001 a0005c0006 a0015c0011 a0094c0139 a0101c0107	a0001c0002t0002 a0002c0001t0003 a0005c0006t0002 others(3): Show a0001c0002t0002 a0002c0001t0003 a0005c0006t0002 a0015c0011t0002 a0094c0139t0001 a0101c0107t0002	a0001c0002t0002g0154 a0001c0002t0002g0245 a0002c0001t0003g0312 others(5): Show a0001c0002t0002g0154 a0001c0002t0002g0245 a0002c0001t0003g0312 a0005c0006t0002g0022 a0005c0006t0002g0325 a0015c0011t0002g0316 a0094c0139t0001g0103 a0101c0107t0002g0163	8	66	0.1212	17	c.966 others(36): Show c.9666+1014_9666+1030dupAAAAAAAAAAAAAAAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	39/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110409872	T T	TTGTTTAT others(10): Show TTGTTTATGCATTGCTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(50): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02040.hp2 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03654.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA18980.hp1 NA18987.hp2 NA19009.hp2 NA19060.hp1 NA19068.hp1 NA19088.hp2 NA21309.hp2	a0008 a0022 a0026 others(24): Show a0008 a0022 a0026 a0027 a0031 a0035 a0039 a0047 a0050 a0051 a0053 a0054 a0056 a0058 a0060 a0066 a0068 a0071 a0072 a0075 a0080 a0083 a0084 a0087 a0088 a0092 a0094	a0008c0013 a0008c0059 a0022c0048 others(30): Show a0008c0013 a0008c0059 a0022c0048 a0022c0100 a0026c0018 a0027c0028 a0031c0033 a0035c0027 a0039c0057 a0047c0101 a0047c0102 a0050c0054 a0051c0128 a0051c0152 a0053c0115 a0053c0161 a0054c0044 a0056c0130 a0056c0144 a0058c0037 a0060c0063 a0066c0135 a0068c0132 a0071c0086 a0072c0138 a0075c0090 a0080c0105 a0083c0098 a0084c0140 a0087c0129 a0088c0116 a0092c0095 a0094c0139	a0008c0013t0001 a0008c0013t0003 a0008c0059t0003 others(34): Show a0008c0013t0001 a0008c0013t0003 a0008c0059t0003 a0022c0048t0003 a0022c0100t0001 a0026c0018t0003 a0027c0028t0003 a0031c0033t0005 a0035c0027t0003 a0039c0057t0003 a0039c0057t0004 a0047c0101t0001 a0047c0102t0001 a0050c0054t0001 a0050c0054t0004 a0051c0128t0001 a0051c0152t0001 a0053c0115t0009 a0053c0161t0011 a0054c0044t0001 a0054c0044t0002 a0056c0130t0001 a0056c0144t0001 a0058c0037t0003 a0060c0063t0003 a0066c0135t0001 a0068c0132t0003 a0071c0086t0003 a0072c0138t0003 a0075c0090t0003 a0080c0105t0003 a0083c0098t0001 a0084c0140t0001 a0087c0129t0001 a0088c0116t0005 a0092c0095t0001 a0094c0139t0001	a0008c0013t0001g0199 a0008c0013t0003g0040 a0008c0013t0003g0195 others(50): Show a0008c0013t0001g0199 a0008c0013t0003g0040 a0008c0013t0003g0195 a0008c0013t0003g0196 a0008c0013t0003g0300 a0008c0013t0003g0343 a0008c0059t0003g0127 a0008c0059t0003g0128 a0022c0048t0003g0179 a0022c0048t0003g0349 a0022c0100t0001g0047 a0026c0018t0003g0156 a0026c0018t0003g0311 a0026c0018t0003g0313 a0026c0018t0003g0319 a0027c0028t0003g0044 a0027c0028t0003g0185 a0027c0028t0003g0186 a0031c0033t0005g0073 a0031c0033t0005g0099 a0031c0033t0005g0100 a0035c0027t0003g0168 a0035c0027t0003g0187 a0035c0027t0003g0265 a0039c0057t0003g0258 a0039c0057t0004g0080 a0047c0101t0001g0191 a0047c0102t0001g0157 a0050c0054t0001g0096 a0050c0054t0004g0097 a0051c0128t0001g0036 a0051c0152t0001g0357 a0053c0115t0009g0069 a0053c0161t0011g0003 a0054c0044t0001g0252 a0054c0044t0002g0275 a0056c0130t0001g0342 a0056c0144t0001g0337 a0058c0037t0003g0226 a0058c0037t0003g0336 a0060c0063t0003g0020 a0066c0135t0001g0061 a0068c0132t0003g0288 a0071c0086t0003g0201 a0072c0138t0003g0065 a0075c0090t0003g0231 a0080c0105t0003g0348 a0083c0098t0001g0098 a0084c0140t0001g0208 a0087c0129t0001g0213 a0088c0116t0005g0066 a0092c0095t0001g0046 a0094c0139t0001g0103	53	360	0.1472	17	c.664 others(34): Show c.6649-938_6649-922dupCAAGCAATGCATAAACA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	37/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01255.hp1 others(6): Show HG00099.hp1 HG00673.hp2 HG01255.hp1 HG01257.hp1 HG02083.hp1 HG02132.hp1 HG04204.hp1 NA18968.hp2 NA19074.hp1	a0006 a0008 a0011 others(3): Show a0006 a0008 a0011 a0019 a0028 a0068	a0006c0003 a0008c0013 a0011c0009 others(3): Show a0006c0003 a0008c0013 a0011c0009 a0019c0015 a0028c0038 a0068c0132	a0006c0003t0001 a0008c0013t0003 a0011c0009t0001 others(3): Show a0006c0003t0001 a0008c0013t0003 a0011c0009t0001 a0019c0015t0003 a0028c0038t0002 a0068c0132t0003	a0006c0003t0001g0318 a0008c0013t0003g0040 a0008c0013t0003g0300 others(6): Show a0006c0003t0001g0318 a0008c0013t0003g0040 a0008c0013t0003g0300 a0011c0009t0001g0216 a0011c0009t0001g0219 a0011c0009t0001g0256 a0019c0015t0003g0181 a0028c0038t0002g0280 a0068c0132t0003g0288	9	44	0.2045	17	c.488 others(34): Show c.4889-177_4889-161dupTTTTTTTTTTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110466760	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG01257.hp1 others(11): Show HG00323.hp1 HG00609.hp1 HG01257.hp1 HG02300.hp1 HG02647.hp2 HG02723.hp2 NA18969.hp2 NA18982.hp1 NA18999.hp1 NA19010.hp1 NA19062.hp2 NA19082.hp1 NA20300.hp1 NA20752.hp1	a0003 a0009 a0016 others(6): Show a0003 a0009 a0016 a0028 a0038 a0051 a0062 a0084 a0109	a0003c0004 a0003c0062 a0009c0010 others(7): Show a0003c0004 a0003c0062 a0009c0010 a0016c0012 a0028c0038 a0038c0023 a0051c0128 a0062c0151 a0084c0140 a0109c0125	a0003c0004t0001 a0003c0062t0006 a0009c0010t0003 others(7): Show a0003c0004t0001 a0003c0062t0006 a0009c0010t0003 a0016c0012t0003 a0028c0038t0002 a0038c0023t0001 a0051c0128t0001 a0062c0151t0003 a0084c0140t0001 a0109c0125t0001	a0003c0004t0001g0062 a0003c0004t0001g0180 a0003c0062t0006g0016 others(11): Show a0003c0004t0001g0062 a0003c0004t0001g0180 a0003c0062t0006g0016 a0009c0010t0003g0327 a0016c0012t0003g0152 a0016c0012t0003g0304 a0028c0038t0002g0280 a0028c0038t0002g0284 a0038c0023t0001g0197 a0038c0023t0001g0283 a0051c0128t0001g0036 a0062c0151t0003g0356 a0084c0140t0001g0208 a0109c0125t0001g0141	14	42	0.3333	17	c.316 others(34): Show c.3161-751_3161-735dupTTTTTTTTTTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	17/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110528186	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0305 a0010c0039t0002g0305	1	360	0.0028	17	c.965 others(36): Show c.965-14081_965-14080insATATATATATATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	3/47			chr9	TogoVar
SVIL_chr10_29452338_29639971	29509330	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	73	0.0137	17	c.351 others(36): Show c.3516+3404_3516+3405insTCTCTCTCTCTCTCTCT	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SVIL_chr10_29452338_29639971	29509380	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0081 a0003c0081	a0003c0081t0001 a0003c0081t0001	a0003c0081t0001g0196 a0003c0081t0001g0196	1	288	0.0035	17	c.351 others(36): Show c.3516+3354_3516+3355insCTCTCTCTCTCTCTCTC	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SVOPL_chr7_138589285_138706362	138615560	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	294	0.0034	17	c.135 others(36): Show c.1353+5469_1353+5485dupTTTTTTTTTTTTTTTTT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138642831	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	303	0.0033	17	c.789 others(34): Show c.789+1869_789+1885dupTTTTTTTTTTTTTTTTT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138693529	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0248 a0002c0004t0001g0248	1	62	0.0161	17	c.-35 others(34): Show c.-35+7648_-35+7649insCTTTCTTTCTTTCTTTC	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	1/15			chr7	TogoVar
SWAP70_chr11_9659077_9757993	9705123	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(34): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01515.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 NA19030.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0005	a0001c0002t0002 a0001c0002t0011 a0001c0002t0032 others(8): Show a0001c0002t0002 a0001c0002t0011 a0001c0002t0032 a0001c0003t0013 a0001c0003t0015 a0001c0003t0027 a0002c0001t0001 a0002c0001t0019 a0002c0001t0022 a0002c0004t0005 a0002c0005t0007	a0001c0002t0002g0258 a0001c0002t0011g0046 a0001c0002t0011g0094 others(34): Show a0001c0002t0002g0258 a0001c0002t0011g0046 a0001c0002t0011g0094 a0001c0002t0011g0098 a0001c0002t0032g0067 a0001c0003t0013g0002 a0001c0003t0013g0003 a0001c0003t0013g0004 a0001c0003t0015g0063 a0001c0003t0015g0064 a0001c0003t0027g0031 a0002c0001t0001g0099 a0002c0001t0001g0251 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0019g0278 a0002c0001t0022g0275 a0002c0004t0005g0097 a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 a0002c0005t0007g0029	37	292	0.1267	17	c.241 others(34): Show c.241-8329_241-8313dupACACTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9705175	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(22): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01515.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0001 a0002c0001t0019 a0002c0001t0022 others(1): Show a0002c0001t0001 a0002c0001t0019 a0002c0001t0022 a0002c0005t0007	a0002c0001t0001g0099 a0002c0001t0001g0251 a0002c0001t0001g0265 others(22): Show a0002c0001t0001g0099 a0002c0001t0001g0251 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0019g0278 a0002c0001t0022g0275 a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 a0002c0005t0007g0029	25	292	0.0856	17	c.241 others(34): Show c.241-8260_241-8244dupACACTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9705644	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATGCAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG03516.hp1 others(1): Show HG01106.hp1 HG01361.hp2 HG03516.hp1 HG03704.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 others(1): Show a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 a0002c0005t0007g0029	4	291	0.0137	17	c.241 others(34): Show c.241-7809_241-7808insGCACTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9705835	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATGCAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0067 a0001c0002t0032g0067	1	292	0.0034	17	c.241 others(34): Show c.241-7618_241-7617insGCACTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706026	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATGCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01109.hp2 others(10): Show HG00099.hp2 HG00323.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01257.hp2 HG02055.hp1 HG02145.hp1 HG03225.hp2 HG03490.hp2 HG03540.hp1 HG03942.hp1 HG04115.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0019 a0002c0001t0001 a0002c0001t0019	a0002c0001t0001g0251 a0002c0001t0001g0265 a0002c0001t0001g0267 others(10): Show a0002c0001t0001g0251 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0274 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0284 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0019g0278	13	283	0.0459	17	c.241 others(34): Show c.241-7427_241-7426insGCACTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706165	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00609.hp2 others(26): Show HG00140.hp1 HG00423.hp1 HG00609.hp2 HG00673.hp1 HG01106.hp2 HG01175.hp2 HG02071.hp1 HG02976.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA18999.hp2 NA19006.hp1 NA19012.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19078.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0008 others(1): Show a0001c0002 a0001c0003 a0001c0008 a0002c0001	a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 others(5): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0025 a0001c0008t0035 a0002c0001t0001 a0002c0001t0006 a0002c0001t0012	a0001c0002t0002g0106 a0001c0003t0003g0015 a0001c0003t0003g0206 others(26): Show a0001c0002t0002g0106 a0001c0003t0003g0015 a0001c0003t0003g0206 a0001c0003t0003g0213 a0001c0003t0003g0221 a0001c0003t0004g0202 a0001c0003t0004g0208 a0001c0003t0004g0212 a0001c0003t0004g0214 a0001c0003t0004g0220 a0001c0003t0004g0223 a0001c0003t0004g0226 a0001c0003t0004g0252 a0001c0003t0025g0217 a0001c0008t0035g0056 a0002c0001t0001g0011 a0002c0001t0001g0034 a0002c0001t0001g0036 a0002c0001t0001g0047 a0002c0001t0001g0055 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0006g0040 a0002c0001t0006g0041 a0002c0001t0006g0044 a0002c0001t0012g0050 a0002c0001t0012g0052 a0002c0001t0012g0068	29	272	0.1066	17	c.241 others(34): Show c.241-7289_241-7273dupATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706200	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0099 a0002c0001t0001g0099	1	292	0.0034	17	c.241 others(34): Show c.241-7237_241-7221dupATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706252	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG02080.hp1 others(17): Show HG00544.hp2 HG00558.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02683.hp2 HG03540.hp1 HG04199.hp2 NA18939.hp1 NA18945.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA19000.hp2 NA19005.hp2 NA19056.hp2 NA19062.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 a0002c0004t0017	a0001c0002t0002g0109 a0001c0003t0003g0018 a0001c0003t0003g0107 others(17): Show a0001c0002t0002g0109 a0001c0003t0003g0018 a0001c0003t0003g0107 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0211 a0001c0003t0003g0215 a0001c0003t0003g0216 a0001c0003t0003g0218 a0001c0003t0003g0224 a0001c0003t0003g0228 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0255 a0002c0001t0001g0265 a0002c0001t0001g0282 a0002c0004t0017g0153	20	184	0.1087	17	c.241 others(34): Show c.241-7202_241-7186dupATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706252	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATGCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(47): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01515.hp1 HG01891.hp2 HG02071.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02683.hp1 HG02886.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03579.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp2 NA18522.hp2 NA18942.hp2 NA18946.hp1 NA18965.hp2 NA18966.hp1 NA18972.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18998.hp2 NA19006.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19076.hp2 NA19078.hp1 NA19081.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0002c0001 others(1): Show a0001c0007 a0001c0008 a0002c0001 a0002c0005	a0001c0007t0002 a0001c0008t0003 a0001c0008t0009 others(12): Show a0001c0007t0002 a0001c0008t0003 a0001c0008t0009 a0001c0008t0035 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0008 a0002c0001t0012 a0002c0001t0014 a0002c0001t0018 a0002c0001t0021 a0002c0001t0023 a0002c0001t0024 a0002c0005t0001	a0001c0007t0002g0039 a0001c0008t0003g0053 a0001c0008t0009g0093 others(47): Show a0001c0007t0002g0039 a0001c0008t0003g0053 a0001c0008t0009g0093 a0001c0008t0035g0056 a0002c0001t0001g0011 a0002c0001t0001g0034 a0002c0001t0001g0036 a0002c0001t0001g0047 a0002c0001t0001g0049 a0002c0001t0001g0055 a0002c0001t0001g0057 a0002c0001t0001g0059 a0002c0001t0001g0062 a0002c0001t0001g0070 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0090 a0002c0001t0001g0092 a0002c0001t0005g0054 a0002c0001t0005g0061 a0002c0001t0005g0066 a0002c0001t0005g0100 a0002c0001t0005g0250 a0002c0001t0006g0038 a0002c0001t0006g0040 a0002c0001t0006g0041 a0002c0001t0006g0042 a0002c0001t0006g0043 a0002c0001t0006g0044 a0002c0001t0006g0104 a0002c0001t0008g0095 a0002c0001t0008g0096 a0002c0001t0008g0245 a0002c0001t0012g0050 a0002c0001t0012g0052 a0002c0001t0012g0068 a0002c0001t0014g0237 a0002c0001t0018g0051 a0002c0001t0021g0076 a0002c0001t0023g0048 a0002c0001t0024g0083 a0002c0005t0001g0249	50	214	0.2336	17	c.241 others(34): Show c.241-7201_241-7200insGCACTGGTGATCTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706339	T T	TTGGTGAT others(10): Show TTGGTGATCTGTATACAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0220 a0001c0003t0004g0220	1	290	0.0034	17	c.241 others(34): Show c.241-7110_241-7094dupCTGGTGATCTGTATACA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYAP1_chrX_16714612_16770340	16742143	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	78	0.0128	17	c.435 others(32): Show c.435+364_435+380dupTTTTTTTTTTTTTTTTT	SYAP1	ENSG00000169895.6	transcript	ENST00000380155.4	protein_coding	4/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
SYAP1_chrX_16714612_16770340	16769307	A A	AATGGGAG others(10): Show AATGGGAGGCAAGTTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	288	0.0035	17	c.89 others(28): Show c.8948_*8949insATGGGAGGCAAGTTTGC	SYAP1	ENSG00000169895.6	transcript	ENST00000380155.4	protein_coding		3968		chrX	TogoVar
SYBU_chr8_109568978_109649822	109615997	C C	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19082.hp2 NA19001.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0164 a0001c0001t0001g0169	2	206	0.0097	17	c.427 others(34): Show c.427+2844_427+2845insAAAAAAAAAAAAAGAAA	SYBU	ENSG00000147642.17	transcript	ENST00000276646.14	protein_coding	3/6			chr8	TogoVar
SYBU_chr8_109568978_109649822	109645626	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA18906.hp1 HG02970.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	278	0.0072	17	c.-96 others(26): Show c.-968_-967insAAAAAAAAAAAAAAAAA	SYBU	ENSG00000147642.17	transcript	ENST00000276646.14	protein_coding		805		chr8	TogoVar
SYCE2_chr19_12893786_12924293	12920125	A A	ACACACAC others(10): Show ACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp1 others(57): Show HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG01074.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02886.hp2 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18982.hp1 NA19005.hp2 NA19011.hp1 NA19068.hp2 NA19072.hp2 NA19082.hp1 NA19083.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0007g0064 a0002c0002t0001g0161 a0003c0003t0001g0077	60	192	0.3125	17	c.-86 others(26): Show c.-869_-868insGTGTGTGTGTGTGTGTG	SYCE2	ENSG00000161860.8	transcript	ENST00000293695.8	protein_coding		833		chr19	TogoVar
SYCE3_chr22_50546112_50567919	50559494	T T	TTGAATAA others(10): Show TTGAATAATGACTTAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	412	0.0024	17	c.1-3 others(30): Show c.1-3106_1-3090dupTTTTAAGTCATTATTCA	SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2			chr22	TogoVar
SYCE3_chr22_50546112_50567919	50562141	A A	AGGGGTGA others(10): Show AGGGGTGAGGGGTGAGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(137): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19072.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0002c0003t0001g0040 a0002c0003t0001g0139	140	403	0.3474	17	c.-1+ others(30): Show c.-1+700_-1+716dupGCCTCACCCCTCACCCC	SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2			chr22	TogoVar

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