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
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02976.hp2 HG03453.hp2 others(2): Show HG01255.hp1 HG02976.hp2 HG03453.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080	5	284	0.0176	20	c.37 others(31): Show c.3748_*3767dupCTTTCTTTCTTTCTTTCTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02622.hp1 others(3): Show HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02965.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0021 others(3): Show a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0003g0011	6	352	0.0171	20	c.-22 others(31): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686636	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	354	0.0028	20	c.-28 others(31): Show c.-2830_-2829insATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2759		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	354	0.0028	20	c.-28 others(31): Show c.-2803_-2802insTATATATATATATATATTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03491.hp2 HG02622.hp1 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0133 a0001c0002t0002g0030 a0001c0002t0002g0133	2	354	0.0057	20	c.-28 others(31): Show c.-2803_-2802insTATATATATATATATTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0182 a0001c0002t0004g0183	2	354	0.0057	20	c.-28 others(31): Show c.-2803_-2802insTATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	354	0.0028	20	c.-28 others(31): Show c.-2803_-2802insTATATTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45724298	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	354	0.0028	20	c.921 others(35): Show c.921+772_921+791dupGTGTGTGTGTGTGTGTGTGT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01358.hp1 NA18960.hp2 others(2): Show HG01192.hp1 HG01358.hp1 NA18960.hp2 NA19009.hp1 NA19063.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0008 a0002c0001t0001 a0002c0001t0008	a0002c0001t0001g0001 a0002c0001t0001g0208 a0002c0001t0001g0235 others(2): Show a0002c0001t0001g0001 a0002c0001t0001g0208 a0002c0001t0001g0235 a0002c0001t0001g0241 a0002c0001t0008g0210	5	354	0.0141	20	c.49 others(31): Show c.4922_*4923insATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23380122	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19067.hp2 NA18522.hp2 NA19067.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0005c0010 a0003c0005 a0005c0010	a0003c0005t0001 a0005c0010t0005 a0003c0005t0001 a0005c0010t0005	a0003c0005t0001g0207 a0005c0010t0005g0374 a0003c0005t0001g0207 a0005c0010t0005g0374	2	378	0.0053	20	c.21- others(35): Show c.21-4873_21-4854dupACACACACACACACACACAC	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23399037	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0007 a0001c0020t0007	a0001c0020t0007g0019 a0001c0020t0007g0019	1	378	0.0027	20	c.20+ others(37): Show c.20+12182_20+12183insGTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47182496	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18986.hp2 NA19057.hp2 HG01257.hp1 NA18986.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0025	3	380	0.0079	20	c.733 others(39): Show c.733+12574_733+12575insTGTGTGTGTGTGCGCGCGCG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAFB_chr19_5618083_5673478	5673431	T T	TCACCCAT others(13): Show TCACCCATCCATCTATCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02602.hp2 HG01106.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0141 a0001c0007t0001g0142 a0001c0001t0001g0141 a0001c0007t0001g0142	2	282	0.0071	20	c.51 others(31): Show c.5140_*5141insCACCCATCCATCTATCCACC	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding		4954		chr19	TogoVar
SAGSIN1_chr7_6324411_6353967	6353477	A A	AAAGGGAG others(13): Show AAAGGGAGGGAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0387 a0001c0001t0006g0387	1	420	0.0024	20	c.-47 others(31): Show c.-4720_-4719insCCTTCCTTCCTCCCTCCCTT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		4511		chr7	TogoVar
SAG_chr2_233302816_233352055	233303848	T T	TTGAGACA others(13): Show TTGAGACAGGGTCTCGTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(70): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00738.hp2 HG01109.hp2 HG01261.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18940.hp2 NA18968.hp1 NA18997.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005 a0002c0007 a0002c0009 a0002c0010 a0004c0008 a0011c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0003t0003 a0001c0006t0001 a0002c0005t0001 a0002c0007t0001 a0002c0009t0001 a0002c0010t0001 a0004c0008t0001 a0011c0013t0001	a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0059 others(69): Show a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0356 a0001c0001t0006g0301 a0001c0001t0007g0063 a0001c0003t0001g0002 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0326 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0006t0001g0291 a0002c0005t0001g0286 a0002c0005t0001g0287 a0002c0005t0001g0288 a0002c0005t0001g0289 a0002c0005t0001g0292 a0002c0005t0001g0321 a0002c0005t0001g0322 a0002c0007t0001g0066 a0002c0007t0001g0067 a0002c0007t0001g0076 a0002c0007t0001g0079 a0002c0007t0001g0085 a0002c0009t0001g0074 a0002c0009t0001g0285 a0002c0009t0001g0293 a0002c0009t0001g0320 a0002c0010t0001g0062 a0002c0010t0001g0081 a0002c0010t0001g0098 a0002c0010t0001g0294 a0004c0008t0001g0069 a0004c0008t0001g0070 a0004c0008t0001g0071 a0004c0008t0001g0072 a0011c0013t0001g0290	73	368	0.1984	20	c.-42 others(31): Show c.-4203_-4202insTGAGACAGGGTCTCGTTCTG	SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding		3967		chr2	TogoVar
SALL1_chr16_51130982_51156270	51147780	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	374	0.0027	20	c.76+ others(35): Show c.76+3366_76+3385dupGTGTGTGTGTGTGTGTGTGT	SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding	1/2			chr16	TogoVar
SALL3_chr18_78974818_79003969	79003433	T T	TTAAATGG others(13): Show TTAAATGGAGGGTAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	315	0.0032	20	c.61 others(31): Show c.6111_*6112insTAAATGGAGGGTAGAGAGAG	SALL3	ENSG00000256463.10	transcript	ENST00000537592.7	protein_coding		4465		chr18	TogoVar
SAMD10_chr20_63969116_63984642	63971411	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA21309.hp2 HG03927.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0004t0005 a0001c0002t0006 a0001c0004t0005	a0001c0002t0006g0038 a0001c0004t0005g0044 a0001c0002t0006g0038 a0001c0004t0005g0044	2	342	0.0059	20	c.40 others(31): Show c.4098_*4099insAAAAAAAAAAAAAAAAAAAA	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		2704		chr20	TogoVar
SAMD12_chr8_118372984_118626963	118447704	A A	ATATTTAT others(13): Show ATATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	188	0.0053	20	c.193 others(37): Show c.193-7763_193-7744dupAATAAATAAATAAATAAATA	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD14_chr17_50105040_50135160	50124771	G G	GCACGCGC others(13): Show GCACGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp1 NA18950.hp2 others(2): Show HG01943.hp2 HG02004.hp1 NA18950.hp2 NA19009.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0015 a0001c0001t0003g0137 a0001c0001t0003g0145	5	398	0.0126	20	c.43+ others(33): Show c.43+145_43+146insTGTGTGTGTGCGCGCGCGTG	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9			chr17	TogoVar
SAMD3_chr6_130139315_130227951	130153647	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01069.hp2 others(28): Show HG00323.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01346.hp2 HG01934.hp2 HG02040.hp2 HG02056.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp1 HG02698.hp1 HG03017.hp1 HG03195.hp1 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 NA18952.hp2 NA18977.hp2 NA18982.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp1 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0013 a0001c0001 a0001c0004 a0006c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0004t0001 a0006c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0041 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0004g0011 a0001c0001t0007g0327 a0001c0004t0001g0201 a0006c0013t0001g0253	31	338	0.0917	20	c.102 others(39): Show c.1023+1177_1023+1178insATATATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54675367	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0178 a0001c0001t0070g0178	1	262	0.0038	20	c.197 others(39): Show c.197-26694_197-26675dupAAAAAAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54678433	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	262	0.0038	20	c.197 others(39): Show c.197-23565_197-23546dupGTGTGTGTGTGTGTGTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54723999	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02897.hp2 HG03471.hp1 HG02055.hp2 HG02897.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0060 a0001c0001t0002 a0001c0001t0013 a0001c0001t0060	a0001c0001t0002g0160 a0001c0001t0013g0234 a0001c0001t0060g0196 a0001c0001t0002g0160 a0001c0001t0013g0234 a0001c0001t0060g0196	3	262	0.0115	20	c.716 others(39): Show c.716-13022_716-13021insAGGAAGGAAGGAAGGAAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724003	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19030.hp1 HG00558.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0016 a0001c0001t0001 a0002c0009t0016	a0001c0001t0001g0026 a0002c0009t0016g0188 a0001c0001t0001g0026 a0002c0009t0016g0188	2	262	0.0076	20	c.716 others(39): Show c.716-13018_716-13017insAGGAAGGAAGGAAGGAAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01346.hp1 others(10): Show HG00741.hp1 HG01081.hp2 HG01346.hp1 HG02040.hp2 HG02132.hp1 HG02135.hp1 HG02280.hp1 HG03492.hp2 NA18522.hp2 NA18943.hp1 NA18944.hp2 NA19056.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0035 a0001c0014t0031	a0001c0001t0001g0043 a0001c0001t0002g0182 a0001c0001t0002g0239 others(10): Show a0001c0001t0001g0043 a0001c0001t0002g0182 a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0003g0252 a0001c0001t0004g0058 a0001c0001t0004g0128 a0001c0001t0010g0021 a0001c0001t0013g0246 a0001c0001t0016g0179 a0001c0001t0022g0117 a0001c0001t0035g0094 a0001c0014t0031g0011	13	262	0.0496	20	c.716 others(39): Show c.716-12992_716-12973dupGGAAGGAAGGAAGGAAGGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54739055	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0022 a0001c0001t0043g0022	1	262	0.0038	20	c.979 others(37): Show c.979+1787_979+1788insTTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD5_chr6_147503690_147575021	147551812	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0144 a0001c0001t0029g0144	1	364	0.0028	20	c.460 others(39): Show c.460-12576_460-12557dupATATATATATATATATATAT	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG02145.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0139 a0001c0001t0013g0307 a0001c0001t0003g0139 a0001c0001t0013g0307	2	324	0.0062	20	c.-15 others(37): Show c.-15-2162_-15-2143dupTTTTTTTTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(13): Show CCCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01074.hp2 others(5): Show HG00099.hp1 HG00323.hp1 HG01074.hp2 HG03486.hp1 NA18939.hp2 NA18966.hp1 NA19030.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0032 a0001c0001t0072 a0001c0001t0018 a0001c0001t0032 a0001c0001t0072	a0001c0001t0018g0125 a0001c0001t0018g0127 a0001c0001t0018g0174 others(5): Show a0001c0001t0018g0125 a0001c0001t0018g0127 a0001c0001t0018g0174 a0001c0001t0018g0194 a0001c0001t0018g0211 a0001c0001t0032g0152 a0001c0001t0032g0225 a0001c0001t0072g0143	8	340	0.0235	20	c.25 others(31): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01256.hp1 HG01361.hp1 others(15): Show HG01192.hp2 HG01256.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG02258.hp2 HG02717.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp2 NA18747.hp1 NA18947.hp2 NA18983.hp1 NA19043.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020	a0001c0001t0012g0029 a0001c0001t0012g0049 a0001c0001t0012g0067 others(15): Show a0001c0001t0012g0029 a0001c0001t0012g0049 a0001c0001t0012g0067 a0001c0001t0012g0095 a0001c0001t0012g0263 a0001c0001t0012g0266 a0001c0001t0012g0284 a0001c0001t0014g0233 a0001c0001t0014g0254 a0001c0001t0014g0256 a0001c0001t0014g0258 a0001c0001t0014g0260 a0001c0001t0014g0289 a0001c0001t0020g0269 a0001c0001t0020g0274 a0001c0001t0020g0278 a0001c0001t0020g0281 a0001c0001t0020g0288	18	340	0.0529	20	c.25 others(31): Show c.2516_*2535dupAAGAAAGAAAGAAAGAAAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMM50_chr22_43950442_44001529	43959507	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0115 a0001c0004t0001g0115	1	378	0.0027	20	c.22- others(35): Show c.22-3762_22-3743dupACACACACACACACACACAC	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SANBR_chr2_61060871_61129280	61090718	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	346	0.0029	20	c.108 others(39): Show c.1089-1732_1089-1713dupGTGTGTGTGTGTGTGTGTGT	SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAP130_chr2_127936222_128033059	127947754	T T	TTGTGTGT others(13): Show TTGTGTGTCTGTGTGTGTGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	350	0.0029	20	c.279 others(39): Show c.2797+2114_2797+2115insCTCACACACACAGACACACA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	127947764	C C	CTGTGTGT others(13): Show CTGTGTGTGTGAGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG00741.hp2 others(19): Show HG00438.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01978.hp1 HG02027.hp1 HG02080.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG03491.hp1 NA18940.hp2 NA18950.hp1 NA18952.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0149 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0342 a0001c0001t0002g0188 a0001c0001t0003g0343	22	350	0.0629	20	c.279 others(39): Show c.2797+2104_2797+2105insCACACACACTCACACACACA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	350	0.0029	20	c.870 others(37): Show c.870-3523_870-3504dupAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128031208	G G	GTGAAACC others(13): Show GTGAAACCTTGTCCCTGCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	350	0.0029	20	c.-32 others(31): Show c.-3276_-3275insACAGCAGGGACAAGGTTTCA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding		3150		chr2	TogoVar
SAP30BP_chr17_75662338_75713059	75709792	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0161 a0001c0001t0008g0161	1	370	0.0027	20	c.32 others(31): Show c.3271_*3272insAAAAAAAAAAAAAAAAAAAA	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding		1734		chr17	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA21309.hp1 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0024 a0001c0001t0019g0131 a0001c0001t0006g0024 a0001c0001t0019g0131	2	414	0.0048	20	c.-20 others(29): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	360	0.0028	20	c.995 others(35): Show c.995-649_995-648insAAAAAAAAAATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	360	0.0028	20	c.995 others(35): Show c.995-649_995-648insAAAAAAAAAAAAAATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	276	0.0036	20	c.502 others(39): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp1 others(21): Show HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01261.hp2 HG01346.hp2 HG01928.hp2 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02258.hp1 HG02572.hp2 HG02717.hp2 HG03195.hp1 HG03209.hp1 HG03688.hp1 HG03688.hp2 NA18966.hp1 NA18978.hp2 NA18999.hp2 NA19059.hp2 NA19060.hp2 NA19076.hp1 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0078 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0078 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0253 a0001c0001t0001g0369 a0001c0001t0001g0372	24	402	0.0597	20	c.137 others(37): Show c.137-4708_137-4689dupTATATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARS1_chr1_109208918_109243182	109226701	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	402	0.0025	20	c.208 others(37): Show c.208-1650_208-1649insTATATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01070.hp2 others(21): Show HG00558.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp2 HG01255.hp2 HG01258.hp2 HG01934.hp2 HG02015.hp1 HG02280.hp1 HG02602.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18978.hp1 NA19003.hp2 NA19064.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0007 a0001c0013 others(5): Show a0001c0001 a0001c0007 a0001c0013 a0002c0002 a0002c0005 a0003c0006 a0003c0008 a0011c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0007t0001 a0001c0013t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0018 a0002c0002t0028 a0002c0005t0006 a0003c0006t0001 a0003c0008t0002 a0003c0008t0003 a0011c0039t0001	a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0177 others(21): Show a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0002g0159 a0001c0001t0002g0212 a0001c0001t0005g0315 a0001c0001t0007g0124 a0001c0001t0013g0160 a0001c0007t0001g0113 a0001c0013t0002g0193 a0002c0002t0001g0262 a0002c0002t0003g0320 a0002c0002t0018g0120 a0002c0002t0028g0167 a0002c0005t0006g0061 a0002c0005t0006g0171 a0003c0006t0001g0060 a0003c0006t0001g0072 a0003c0006t0001g0073 a0003c0006t0001g0082 a0003c0008t0002g0058 a0003c0008t0003g0071 a0003c0008t0003g0085 a0011c0039t0001g0292	24	322	0.0745	20	c.157 others(39): Show c.157-21358_157-21339dupACACACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03710.hp1 HG00099.hp2 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0002 a0001c0001t0001 a0003c0011t0002	a0001c0001t0001g0046 a0003c0011t0002g0081 a0001c0001t0001g0046 a0003c0011t0002g0081	2	322	0.0062	20	c.157 others(39): Show c.157-21363_157-21362insGCACACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02135.hp1 NA18612.hp1 others(5): Show HG00544.hp1 HG02135.hp1 NA18612.hp1 NA18957.hp1 NA18959.hp1 NA18977.hp1 NA18979.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0002c0005 a0002c0033	a0001c0001t0002 a0001c0009t0010 a0002c0002t0002 others(3): Show a0001c0001t0002 a0001c0009t0010 a0002c0002t0002 a0002c0002t0003 a0002c0005t0006 a0002c0033t0001	a0001c0001t0002g0053 a0001c0001t0002g0174 a0001c0001t0002g0175 others(5): Show a0001c0001t0002g0053 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0009t0010g0206 a0002c0002t0002g0237 a0002c0002t0003g0034 a0002c0005t0006g0161 a0002c0033t0001g0048	8	322	0.0248	20	c.157 others(37): Show c.157-2461_157-2442dupTTTCTTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148417582	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00609.hp1 others(41): Show HG00099.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG01109.hp1 HG01167.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp2 HG02602.hp2 HG02738.hp2 HG02970.hp2 HG03516.hp1 HG03942.hp1 HG04199.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18969.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA19003.hp2 NA19004.hp2 NA19011.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0003 a0001c0013 others(11): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0014 a0002c0032 a0002c0037 a0003c0006 a0003c0008 a0003c0020 a0011c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0003t0002 a0001c0013t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0019 a0002c0002t0028 a0002c0004t0004 a0002c0005t0001 a0002c0005t0006 a0002c0005t0023 a0002c0010t0003 a0002c0014t0001 a0002c0032t0033 a0002c0037t0006 a0003c0006t0001 a0003c0006t0002 a0003c0008t0002 a0003c0008t0003 a0003c0020t0002 a0011c0039t0001	a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0243 others(41): Show a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0243 a0001c0001t0002g0053 a0001c0001t0002g0202 a0001c0001t0002g0242 a0001c0001t0005g0315 a0001c0001t0013g0160 a0001c0001t0013g0244 a0001c0003t0002g0138 a0001c0013t0002g0193 a0002c0002t0001g0027 a0002c0002t0001g0055 a0002c0002t0001g0211 a0002c0002t0003g0201 a0002c0002t0004g0019 a0002c0002t0004g0203 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0233 a0002c0002t0004g0281 a0002c0002t0004g0282 a0002c0002t0019g0150 a0002c0002t0028g0167 a0002c0004t0004g0126 a0002c0005t0001g0028 a0002c0005t0006g0213 a0002c0005t0023g0219 a0002c0010t0003g0147 a0002c0014t0001g0194 a0002c0032t0033g0188 a0002c0037t0006g0145 a0003c0006t0001g0073 a0003c0006t0001g0082 a0003c0006t0001g0084 a0003c0006t0002g0065 a0003c0006t0002g0075 a0003c0008t0002g0058 a0003c0008t0003g0069 a0003c0008t0003g0071 a0003c0008t0003g0083 a0003c0008t0003g0085 a0003c0020t0002g0162 a0011c0039t0001g0292	44	322	0.1367	20	c.286 others(39): Show c.286-22594_286-22575dupTAAATAAATAAATAAATAAA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421142	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	322	0.0031	20	c.286 others(39): Show c.286-19039_286-19038insAAAGAAAGAAAGAAAGAAAG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421146	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	322	0.0031	20	c.286 others(39): Show c.286-18987_286-18968dupGAAAGAAAGAAAGAAAGAAA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar

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