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
RYR2_chr1_237037184_237838988	237594886	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp1 HG00741.hp1 HG01169.hp1	a0001 a0003 a0001 a0003	a0001c0023 a0003c0043 a0001c0023 a0003c0043	a0001c0023t0003 a0003c0043t0002 a0001c0023t0003 a0003c0043t0002	a0001c0023t0003g0071 a0003c0043t0002g0068 a0001c0023t0003g0071 a0003c0043t0002g0068	2	32	0.0625	-15	c.443 others(32): Show c.4437-581_4437-567delTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33336443	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG02559.hp1 others(5): Show HG01081.hp2 HG01255.hp2 HG02559.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp2 NA18906.hp2 NA21309.hp1	a0001 a0007 a0031 others(2): Show a0001 a0007 a0031 a0037 a0048	a0001c0014 a0001c0082 a0001c0099 others(5): Show a0001c0014 a0001c0082 a0001c0099 a0007c0072 a0007c0073 a0031c0052 a0037c0039 a0048c0118	a0001c0014t0002 a0001c0082t0002 a0001c0099t0002 others(5): Show a0001c0014t0002 a0001c0082t0002 a0001c0099t0002 a0007c0072t0004 a0007c0073t0001 a0031c0052t0001 a0037c0039t0001 a0048c0118t0003	a0001c0014t0002g0049 a0001c0082t0002g0025 a0001c0099t0002g0139 others(5): Show a0001c0014t0002g0049 a0001c0082t0002g0025 a0001c0099t0002g0139 a0007c0072t0004g0045 a0007c0073t0001g0138 a0031c0052t0001g0137 a0037c0039t0001g0053 a0048c0118t0003g0048	8	136	0.0588	-15	c.51+ others(32): Show c.51+25348_51+25362delGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33336447	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00140.hp1 HG00140.hp2	a0005 a0016 a0005 a0016	a0005c0030 a0016c0110 a0005c0030 a0016c0110	a0005c0030t0001 a0016c0110t0003 a0005c0030t0001 a0016c0110t0003	a0005c0030t0001g0007 a0016c0110t0003g0035 a0005c0030t0001g0007 a0016c0110t0003g0035	2	134	0.0149	-15	c.51+ others(32): Show c.51+25352_51+25366delGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33336451	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0002 a0042 a0002 a0042	a0002c0044 a0042c0071 a0002c0044 a0042c0071	a0002c0044t0003 a0042c0071t0003 a0002c0044t0003 a0042c0071t0003	a0002c0044t0003g0105 a0042c0071t0003g0115 a0002c0044t0003g0105 a0042c0071t0003g0115	2	145	0.0138	-15	c.51+ others(32): Show c.51+25356_51+25370delGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33336455	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0013 a0005c0040t0013	a0005c0040t0013g0145 a0005c0040t0013g0145	1	152	0.0066	-15	c.51+ others(32): Show c.51+25360_51+25374delGAGAGAGAGAGAGAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33337934	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(38): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02738.hp1 HG03195.hp2 HG03516.hp1 HG03688.hp1 HG04184.hp1 NA18522.hp1 NA18946.hp2 NA18959.hp2 NA18964.hp1 NA18981.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA20129.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0016 a0024 a0028 a0030 a0035 a0040 a0046 a0049	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0001c0014 a0001c0079 a0002c0049 a0002c0081 a0002c0090 a0003c0012 a0003c0077 a0004c0006 a0004c0016 a0004c0068 a0004c0069 a0004c0070 a0005c0030 a0006c0042 a0006c0061 a0008c0018 a0008c0019 a0010c0017 a0010c0112 a0016c0110 a0024c0075 a0028c0114 a0030c0100 a0035c0094 a0040c0038 a0046c0109 a0049c0111	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0013t0001 a0001c0014t0002 a0001c0079t0006 a0002c0049t0003 a0002c0081t0002 a0002c0090t0001 a0003c0012t0003 a0003c0077t0003 a0004c0006t0001 a0004c0016t0007 a0004c0068t0001 a0004c0069t0006 a0004c0070t0001 a0005c0030t0001 a0006c0042t0001 a0006c0061t0001 a0008c0018t0003 a0008c0019t0001 a0010c0017t0003 a0010c0112t0003 a0016c0110t0003 a0024c0075t0002 a0028c0114t0003 a0030c0100t0001 a0035c0094t0003 a0040c0038t0008 a0046c0109t0005 a0049c0111t0001	a0001c0001t0001g0044 a0001c0001t0002g0030 a0001c0001t0005g0008 others(38): Show a0001c0001t0001g0044 a0001c0001t0002g0030 a0001c0001t0005g0008 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0037 a0001c0003t0006g0029 a0001c0004t0001g0036 a0001c0004t0003g0104 a0001c0005t0001g0005 a0001c0005t0001g0027 a0001c0013t0001g0026 a0001c0014t0002g0016 a0001c0079t0006g0038 a0002c0049t0003g0014 a0002c0081t0002g0023 a0002c0090t0001g0076 a0003c0012t0003g0113 a0003c0077t0003g0013 a0004c0006t0001g0149 a0004c0016t0007g0116 a0004c0068t0001g0033 a0004c0069t0006g0009 a0004c0070t0001g0010 a0005c0030t0001g0007 a0006c0042t0001g0031 a0006c0061t0001g0022 a0008c0018t0003g0034 a0008c0019t0001g0001 a0010c0017t0003g0017 a0010c0112t0003g0020 a0016c0110t0003g0035 a0024c0075t0002g0141 a0028c0114t0003g0011 a0030c0100t0001g0021 a0035c0094t0003g0070 a0040c0038t0008g0015 a0046c0109t0005g0040 a0049c0111t0001g0028	41	70	0.5857	-15	c.51+ others(32): Show c.51+26852_51+26866delTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A10_chr1_151977915_151998859	151987027	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0082 a0001c0003t0004g0082	1	35	0.0286	-15	c.-21 others(30): Show c.-21-791_-21-777delAAAAAAAAAAAAAAA	S100A10	ENSG00000197747.9	transcript	ENST00000368811.8	protein_coding	1/2			chr1	TogoVar
S100A16_chr1_153601886_153618137	153607094	TCTGCTGC others(8): Show TCTGCTGCTGCTGCTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0076 a0001c0001t0010g0076	1	380	0.0026	-15	c.42 others(24): Show c.425_*439delCAGCAGCAGCAGCAG	S100A16	ENSG00000188643.11	transcript	ENST00000368706.9	protein_coding	3/3	425		chr1	TogoVar
S100A2_chr1_153556108_153570844	153565672	TTCCCTCC others(8): Show TTCCCTCCCAGCCCCC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01255.hp2 others(21): Show HG00741.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01928.hp2 HG01981.hp2 HG02293.hp1 HG02293.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18977.hp2 NA18980.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0017 others(7): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044	24	368	0.0652	-15	c.-19 others(24): Show c.-192_-178delGGGGGCTGGGAGGGA	S100A2	ENSG00000196754.13	transcript	ENST00000368708.9	protein_coding	1/3	1796		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539424	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG03209.hp2 others(1): Show HG01891.hp2 HG02630.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0008 a0001c0001t0001g0001 a0001c0002t0002g0008	4	202	0.0198	-15	c.43 others(26): Show c.4320_*4334delTTTTTTTTTTTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4196		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539437	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0004t0003 a0001c0006t0001 a0001c0002t0001 a0001c0004t0003 a0001c0006t0001	a0001c0002t0001g0019 a0001c0004t0003g0006 a0001c0006t0001g0018 a0001c0002t0001g0019 a0001c0004t0003g0006 a0001c0006t0001g0018	3	348	0.0086	-15	c.43 others(26): Show c.4307_*4321delATTTTTTTTTTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4183		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539439	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	346	0.0029	-15	c.43 others(26): Show c.4305_*4319delATATTTTTTTTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4181		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539445	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG02257.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	341	0.0059	-15	c.42 others(26): Show c.4299_*4313delATATATATATTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4175		chr1	TogoVar
S100A5_chr1_153532147_153545934	153539424	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02965.hp1 others(2): Show HG01891.hp1 HG02630.hp1 HG02965.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	5	220	0.0227	-15	c.138 others(30): Show c.138+615_138+629delTTTTTTTTTTTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A5_chr1_153532147_153545934	153539437	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0020 a0001c0001t0001g0032 a0001c0001t0002g0020	3	376	0.0080	-15	c.138 others(30): Show c.138+602_138+616delATTTTTTTTTTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A5_chr1_153532147_153545934	153539439	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	374	0.0027	-15	c.138 others(30): Show c.138+600_138+614delATATTTTTTTTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A5_chr1_153532147_153545934	153539445	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0007 a0003c0004t0002g0007	2	369	0.0054	-15	c.138 others(30): Show c.138+594_138+608delATATATATATTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A6_chr1_153529599_153540991	153539424	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02965.hp2 others(2): Show HG01891.hp2 HG02630.hp2 HG02965.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	218	0.0229	-15	c.-35 others(26): Show c.-3512_-3498delTTTTTTTTTTTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3434		chr1	TogoVar
S100A6_chr1_153529599_153540991	153539437	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0002c0002t0001g0008 a0001c0001t0001g0005 a0002c0002t0001g0008	3	378	0.0079	-15	c.-35 others(26): Show c.-3525_-3511delATTTTTTTTTTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3447		chr1	TogoVar
S100A6_chr1_153529599_153540991	153539439	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	-15	c.-35 others(26): Show c.-3527_-3513delATATTTTTTTTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3449		chr1	TogoVar
S100A6_chr1_153529599_153540991	153539445	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	371	0.0054	-15	c.-35 others(26): Show c.-3533_-3519delATATATATATTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3455		chr1	TogoVar
S100P_chr4_6688878_6702170	6701096	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp2 others(91): Show HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp1 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025	94	200	0.4700	-15	c.40 others(26): Show c.4055_*4069delTTATTATTATTATTA	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		3927		chr4	TogoVar
S100Z_chr5_76845014_76926650	76901143	GCCACCAC others(8): Show GCCACCACCACAATGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG02451.hp2 others(14): Show HG00642.hp2 HG01243.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02897.hp1 HG02965.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0002c0001t0006 a0002c0001t0007 a0002c0001t0014	a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0003g0046 others(14): Show a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0003g0046 a0001c0002t0006g0070 a0001c0002t0006g0104 a0001c0002t0006g0216 a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0317 a0002c0001t0006g0051 a0002c0001t0006g0140 a0002c0001t0006g0222 a0002c0001t0006g0223 a0002c0001t0006g0265 a0002c0001t0007g0065 a0002c0001t0007g0262 a0002c0001t0014g0179	17	346	0.0491	-15	c.3- others(32): Show c.3-19572_*3-19558delCACCACCACAATGAC	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR2_chr19_10216433_10236331	10222901	CTGTAATC others(8): Show CTGTAATCCCACACTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0076 a0001c0001t0061g0076	1	398	0.0025	-15	c.92 others(24): Show c.928_*942delAAGTGTGGGATTACA	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2	928		chr19	TogoVar
S1PR2_chr19_10216433_10236331	10223168	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0122 a0001c0001t0059g0122	1	31	0.0323	-15	c.66 others(24): Show c.661_*675delTTTTTTTTTTTTTTT	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2	661		chr19	TogoVar
SACS_chr13_23323830_23438702	23324653	TCCAGAGG others(8): Show TCCAGAGGAACTCAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02486.hp1 others(10): Show HG01109.hp2 HG01884.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03540.hp1 HG06807.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0014 a0001c0003t0001 a0001c0003t0004 a0001c0003t0014	a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0082 others(10): Show a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0082 a0001c0003t0001g0337 a0001c0003t0001g0359 a0001c0003t0004g0107 a0001c0003t0004g0183 a0001c0003t0004g0366 a0001c0003t0004g0368 a0001c0003t0004g0369 a0001c0003t0004g0370 a0001c0003t0014g0365 a0001c0003t0014g0371	13	376	0.0346	-15	c.54 others(26): Show c.5468_*5482delTCTGAGTTCCTCTGG	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding		4176		chr13	TogoVar
SAFB_chr19_5618083_5673478	5637031	AACAACAC others(8): Show AACAACACTTAGCCTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	280	0.0036	-15	c.275 others(32): Show c.275-4561_275-4547delCAACACTTAGCCTTA	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAFB_chr19_5618083_5673478	5670986	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18971.hp2 NA18983.hp2 others(1): Show HG02080.hp2 NA18971.hp2 NA18983.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0211	4	39	0.1026	-15	c.26 others(26): Show c.2696_*2710delTTTTTTTTTTTTTTT	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding		2509		chr19	TogoVar
SAGSIN1_chr7_6324411_6353967	6347883	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	37	0.0270	-15	c.186 others(30): Show c.186+675_186+689delTAATAATAATAATAA	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SALL2_chr14_21516080_21531346	21521321	GCTGGTCT others(8): Show GCTGGTCTCCCAAAGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(73): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp2 HG02698.hp1 HG03017.hp2 HG03209.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18947.hp1 NA18948.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18973.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0015 a0027	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0007c0007 a0010c0009 a0015c0014 a0027c0040	a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 others(23): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0044 a0002c0002t0004 a0002c0002t0007 a0002c0002t0013 a0002c0002t0017 a0003c0003t0004 a0003c0003t0007 a0003c0003t0014 a0003c0003t0017 a0003c0003t0031 a0004c0005t0004 a0004c0005t0013 a0005c0004t0004 a0005c0004t0007 a0007c0007t0004 a0010c0009t0004 a0010c0009t0014 a0015c0014t0018 a0027c0040t0004	a0001c0001t0004g0006 a0001c0001t0007g0023 a0001c0001t0013g0027 others(23): Show a0001c0001t0004g0006 a0001c0001t0007g0023 a0001c0001t0013g0027 a0001c0001t0014g0052 a0001c0001t0017g0113 a0001c0001t0018g0037 a0001c0001t0022g0051 a0001c0001t0044g0115 a0002c0002t0004g0021 a0002c0002t0007g0011 a0002c0002t0013g0035 a0002c0002t0017g0100 a0003c0003t0004g0043 a0003c0003t0007g0042 a0003c0003t0014g0026 a0003c0003t0017g0032 a0003c0003t0031g0079 a0004c0005t0004g0059 a0004c0005t0013g0134 a0005c0004t0004g0072 a0005c0004t0007g0071 a0007c0007t0004g0024 a0010c0009t0004g0102 a0010c0009t0014g0103 a0015c0014t0018g0086 a0027c0040t0004g0132	76	470	0.1617	-15	c.13 others(26): Show c.1368_*1382delACTTTGGGAGACCAG	SALL2	ENSG00000165821.12	transcript	ENST00000537235.2	protein_coding	2/2	1368		chr14	TogoVar
SAMD12_chr8_118372984_118626963	118487833	CATGGCTG others(8): Show CATGGCTGGACAAATG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	186	0.0054	-15	c.193 others(34): Show c.193-47887_193-47873delCATTTGTCCAGCCAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD14_chr17_50105040_50135160	50131534	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	51	0.0196	-15	c.-20 others(26): Show c.-2045_-2031delTTTTTTTTTTTTTTT	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding		1375		chr17	TogoVar
SAMD15_chr14_77372379_77397163	77372907	TATATATA others(8): Show TATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0065 a0011c0014t0001g0065	1	223	0.0045	-15	c.-45 others(26): Show c.-4511_-4497delATATATATATATATA	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4471		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372935	TATATATA others(8): Show TATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02559.hp2 HG01175.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0071 a0002c0002t0002g0109 a0001c0001t0001g0071 a0002c0002t0002g0109	2	312	0.0064	-15	c.-44 others(26): Show c.-4483_-4469delATATATATATATATA	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4443		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372937	TATATATA others(8): Show TATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0100 a0003c0003t0003g0100	1	311	0.0032	-15	c.-44 others(26): Show c.-4481_-4467delATATATATATATATA	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4441		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372938	ATATATAT others(8): Show ATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02976.hp1 HG03139.hp2 others(1): Show HG02698.hp1 HG02976.hp1 HG03139.hp2 HG03491.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 a0002c0002 a0002c0004 a0003c0003	a0002c0002t0002 a0002c0002t0008 a0002c0004t0004 others(1): Show a0002c0002t0002 a0002c0002t0008 a0002c0004t0004 a0003c0003t0003	a0002c0002t0002g0040 a0002c0002t0008g0012 a0002c0004t0004g0031 others(1): Show a0002c0002t0002g0040 a0002c0002t0008g0012 a0002c0004t0004g0031 a0003c0003t0003g0002	4	309	0.0129	-15	c.-44 others(26): Show c.-4480_-4466delTATATATATATATAT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4440		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372940	ATATATAT others(8): Show ATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0010 a0003c0003t0003g0010	1	309	0.0032	-15	c.-44 others(26): Show c.-4478_-4464delTATATATATATATTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4438		chr14	TogoVar
SAMD3_chr6_130139315_130227951	130154713	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01175.hp1 others(2): Show HG01099.hp1 HG01109.hp2 HG01175.hp1 HG02622.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0108 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0164 a0001c0001t0001g0263	5	263	0.0190	-15	c.102 others(31): Show c.1023+97_1023+111delATATATATATTTTTT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD3_chr6_130139315_130227951	130224592	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01496.hp2 others(32): Show HG01070.hp1 HG01106.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0004c0008 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0007t0001 a0004c0008t0001 a0006c0013t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 others(32): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0244 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0006g0265 a0001c0002t0001g0027 a0001c0002t0001g0255 a0001c0007t0001g0161 a0004c0008t0001g0280 a0006c0013t0001g0253	35	164	0.2134	-15	c.-19 others(26): Show c.-1981_-1967delTAATAATAATAATAA	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding		1642		chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54653301	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02559.hp2 others(5): Show HG01243.hp1 HG02145.hp1 HG02559.hp2 HG02922.hp2 HG03139.hp1 NA18995.hp2 NA19004.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0028 a0001c0001t0054	a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0188 others(5): Show a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0003g0201 a0001c0001t0006g0211 a0001c0001t0014g0039 a0001c0001t0028g0146 a0001c0001t0054g0008	8	69	0.1159	-15	c.197 others(34): Show c.197-48723_197-48709delATTATTATTATTATT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54706711	AGGGGAGG others(8): Show AGGGGAGGGGGCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02738.hp1 HG02683.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0200 a0001c0002t0005g0115 a0001c0001t0003g0200 a0001c0002t0005g0115	2	260	0.0077	-15	c.715 others(32): Show c.715+4135_715+4149delGAGGGGGCCCCTGGG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724042	AAGGAAGG others(8): Show AAGGAAGGAATAATGC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0137 a0001c0001t0025g0137	1	260	0.0038	-15	c.716 others(34): Show c.716-12977_716-12963delAGGAATAATGCAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54727166	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01106.hp1 others(16): Show HG00140.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02809.hp1 HG02970.hp1 HG03139.hp1 HG04199.hp1 NA18906.hp2 NA18940.hp1 NA18990.hp1 NA19030.hp1 NA19030.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029 a0001c0001t0056 a0001c0001t0077 a0001c0005t0047 a0001c0005t0076 a0001c0006t0042 a0003c0016t0003	a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0075 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0004g0025 a0001c0001t0008g0096 a0001c0001t0011g0196 a0001c0001t0029g0122 a0001c0001t0056g0011 a0001c0001t0077g0214 a0001c0005t0047g0117 a0001c0005t0076g0158 a0001c0006t0042g0068 a0003c0016t0003g0241	19	39	0.4872	-15	c.716 others(32): Show c.716-9831_716-9817delTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54776015	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03831.hp2 HG02027.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0077 a0001c0001t0005g0063 a0001c0001t0005g0077	2	117	0.0171	-15	c.191 others(32): Show c.1918-386_1918-372delAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD7_chr3_169906572_169944175	169925919	TCAGAACT others(8): Show TCAGAACTCAGACAAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG03579.hp1 HG02257.hp1 HG02647.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0004t0001g0236 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0004t0001g0236	3	414	0.0072	-15	c.291 others(30): Show c.291-633_291-619delCAGAACTCAGACAAC	SAMD7	ENSG00000187033.9	transcript	ENST00000335556.7	protein_coding	5/8			chr3	TogoVar
SAMD8_chr10_75106656_75187123	75123162	TCACCCCA others(8): Show TCACCCCACCCCACCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02615.hp1 HG02723.hp2 others(3): Show HG01099.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0282 others(3): Show a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0296 a0001c0001t0014g0281 a0001c0001t0014g0283	6	70	0.0857	-15	c.-16 others(34): Show c.-16+11476_-16+11490delCACCCCACCCCACCC	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMHD1_chr20_36885229_36956708	36903754	GTTGGCCA others(8): Show GTTGGCCAGGCTGGTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01074.hp2 others(47): Show HG00642.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp2 HG01192.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG06807.hp2 NA19043.hp1 NA19063.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(43): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0002g0130 a0001c0001t0003g0004 a0001c0001t0003g0247 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0005g0001 a0001c0001t0005g0128 a0001c0001t0005g0221 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0281 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0010g0246 a0001c0001t0010g0248 a0001c0001t0020g0249	50	338	0.1479	-15	c.150 others(32): Show c.1503+388_1503+402delAACCAGCCTGGCCAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	13/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36948872	AAAAAAAA others(8): Show AAAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	338	0.0030	-15	c.209 others(32): Show c.209-2083_209-2069delCTTTTCTTTTTTTTT	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36948890	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	337	0.0030	-15	c.209 others(32): Show c.209-2101_209-2087delCTTTTCTTTTCTTTT	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAMM50_chr22_43950442_44001529	43962881	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 NA18906.hp1 HG02572.hp2 HG02630.hp2 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0186 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0186 a0002c0001t0001g0188 a0002c0001t0001g0189	3	133	0.0226	-15	c.22- others(28): Show c.22-386_22-372delTTTTTTTTTTTTTTT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr22	TogoVar

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