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
RAD51B_chr14_67814779_68483093	68442786	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	84	0.0119	15	c.958 others(34): Show c.958-25375_958-25361dupATTATTATTATTATT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51D_chr17_35087221_35124860	35122167	T T	TATATATA others(8): Show TATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	416	0.0024	15	c.-25 others(26): Show c.-2569_-2555dupTATATATATATATAT	RAD51D	ENSG00000185379.21	transcript	ENST00000345365.11	protein_coding		2308		chr17	TogoVar
RAD52_chr12_906736_954694	907024	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02486.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0023 a0001c0001t0006 a0001c0001t0023	a0001c0001t0006g0039 a0001c0001t0023g0053 a0001c0001t0006g0039 a0001c0001t0023g0053	2	400	0.0050	15	c.63 others(26): Show c.6366_*6367insTTTTTTTTTTTTTTT	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		4711		chr12	TogoVar
RAD54B_chr8_94366960_94480115	94422587	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	362	0.0028	15	c.305 others(34): Show c.305-11287_305-11273dupTTTTTTTTTTTTTTT	RAD54B	ENSG00000197275.14	transcript	ENST00000336148.10	protein_coding	3/14			chr8	TogoVar
RAD54L2_chr3_51533719_51673660	51601310	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0040 a0001c0010t0040	a0001c0010t0040g0009 a0001c0010t0040g0009	1	276	0.0036	15	c.139 others(34): Show c.139+10752_139+10766dupTTTTTTTTTTTTTTT	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAD54L2_chr3_51533719_51673660	51626436	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp2 NA18977.hp1 others(1): Show HG03453.hp1 HG03453.hp2 NA18977.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 others(1): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0001t0057	a0001c0001t0009g0160 a0001c0001t0011g0139 a0001c0001t0023g0242 others(1): Show a0001c0001t0009g0160 a0001c0001t0011g0139 a0001c0001t0023g0242 a0001c0001t0057g0168	4	276	0.0145	15	c.140 others(32): Show c.140-1105_140-1091dupTTTTTTTTTTTTTTT	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAD9A_chr11_67386986_67403410	67388253	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02056.hp1 HG01978.hp2 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	2	358	0.0056	15	c.-37 others(26): Show c.-3792_-3791insTTTTTTTTTTTTTTT	RAD9A	ENSG00000172613.8	transcript	ENST00000307980.7	protein_coding		3732		chr11	TogoVar
RADIL_chr7_4792055_4888716	4796849	G G	GTCTCTAC others(8): Show GTCTCTACTAAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG02615.hp2 HG03130.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0021 a0003c0026t0021	a0003c0026t0021g0122 a0003c0026t0021g0123 a0003c0026t0021g0122 a0003c0026t0021g0123	2	292	0.0069	15	c.25 others(26): Show c.2528_*2529insTATTTTTAGTAGAGA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		205		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350889	C C	CGGGGGGA others(8): Show CGGGGGGACGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	15	c.-54 others(24): Show c.-541_-540insGGGGGGACGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		365		chr20	TogoVar
RAF1_chr3_12578601_12669117	12587837	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01934.hp1 HG02300.hp1 HG01243.hp2 HG01934.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0030	3	262	0.0115	15	c.137 others(32): Show c.1371-215_1371-201dupAAAAAAAAAAAAAAA	RAF1	ENSG00000132155.14	transcript	ENST00000251849.9	protein_coding	12/16			chr3	TogoVar
RAF1_chr3_12578601_12669117	12659427	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG02622.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0086 a0001c0001t0005g0258 a0001c0001t0003g0086 a0001c0001t0005g0258	2	262	0.0076	15	c.-27 others(32): Show c.-27+4371_-27+4385dupTTTTTTTTTTTTTTT	RAF1	ENSG00000132155.14	transcript	ENST00000251849.9	protein_coding	1/16			chr3	TogoVar
RAI14_chr5_34651328_34837612	34787893	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp1 HG00738.hp1 HG01346.hp1	a0001 a0001	a0001c0010 a0001c0014 a0001c0010 a0001c0014	a0001c0010t0003 a0001c0014t0001 a0001c0010t0003 a0001c0014t0001	a0001c0010t0003g0054 a0001c0014t0001g0063 a0001c0010t0003g0054 a0001c0014t0001g0063	2	254	0.0079	15	c.168 others(32): Show c.168-8020_168-8006dupTTTTTTTTTTTTTTT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34832964	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA18906.hp1 HG02818.hp2 NA18906.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0025 a0002c0002 a0009c0025	a0002c0002t0002 a0009c0025t0001 a0002c0002t0002 a0009c0025t0001	a0002c0002t0002g0117 a0009c0025t0001g0252 a0002c0002t0002g0117 a0009c0025t0001g0252	2	254	0.0079	15	c.21 others(26): Show c.2199_*2200insAAAAAAAAAAAAAAA	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding		353		chr5	TogoVar
RAI1_chr17_17676458_17816453	17775534	T T	TAACACAC others(8): Show TAACACACATTTTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(114): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18970.hp1 NA18982.hp1 NA18984.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0015	a0001c0001 a0002c0002 a0002c0003 others(22): Show a0001c0001 a0002c0002 a0002c0003 a0002c0012 a0003c0006 a0003c0008 a0003c0029 a0003c0030 a0004c0004 a0004c0009 a0004c0033 a0004c0034 a0005c0005 a0005c0024 a0005c0026 a0005c0027 a0006c0007 a0007c0011 a0007c0032 a0010c0036 a0010c0037 a0011c0031 a0012c0025 a0013c0015 a0015c0035	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(33): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0013 a0002c0003t0005 a0002c0003t0010 a0002c0012t0003 a0002c0012t0004 a0003c0006t0003 a0003c0008t0001 a0003c0008t0004 a0003c0029t0004 a0003c0030t0003 a0004c0004t0003 a0004c0004t0008 a0004c0004t0015 a0004c0009t0005 a0004c0033t0003 a0004c0034t0003 a0005c0005t0001 a0005c0005t0012 a0005c0024t0001 a0005c0026t0001 a0005c0027t0003 a0006c0007t0001 a0007c0011t0014 a0007c0032t0003 a0010c0036t0002 a0010c0037t0002 a0011c0031t0002 a0012c0025t0001 a0013c0015t0001 a0015c0035t0002	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0128 others(114): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0003g0045 a0002c0002t0001g0196 a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0033 a0002c0002t0002g0040 a0002c0002t0002g0086 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0109 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0127 a0002c0002t0002g0149 a0002c0002t0002g0168 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0204 a0002c0002t0002g0211 a0002c0002t0002g0217 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0249 a0002c0002t0004g0043 a0002c0002t0004g0115 a0002c0002t0004g0117 a0002c0002t0004g0153 a0002c0002t0006g0009 a0002c0002t0006g0010 a0002c0002t0006g0011 a0002c0002t0006g0037 a0002c0002t0013g0019 a0002c0003t0005g0044 a0002c0003t0005g0052 a0002c0003t0005g0053 a0002c0003t0005g0054 a0002c0003t0005g0170 a0002c0003t0010g0231 a0002c0003t0010g0232 a0002c0012t0003g0216 a0002c0012t0004g0029 a0002c0012t0004g0214 a0003c0006t0003g0006 a0003c0006t0003g0012 a0003c0006t0003g0013 a0003c0006t0003g0015 a0003c0006t0003g0016 a0003c0006t0003g0250 a0003c0008t0001g0020 a0003c0008t0001g0022 a0003c0008t0004g0220 a0003c0029t0004g0091 a0003c0030t0003g0147 a0004c0004t0003g0039 a0004c0004t0003g0203 a0004c0004t0003g0241 a0004c0004t0008g0002 a0004c0004t0008g0003 a0004c0004t0015g0245 a0004c0009t0005g0055 a0004c0009t0005g0056 a0004c0009t0005g0057 a0004c0033t0003g0004 a0004c0034t0003g0041 a0005c0005t0001g0038 a0005c0005t0001g0046 a0005c0005t0001g0050 a0005c0005t0001g0066 a0005c0005t0001g0219 a0005c0005t0012g0007 a0005c0024t0001g0051 a0005c0026t0001g0218 a0005c0027t0003g0036 a0006c0007t0001g0031 a0006c0007t0001g0034 a0006c0007t0001g0131 a0007c0011t0014g0065 a0007c0032t0003g0008 a0010c0036t0002g0136 a0010c0037t0002g0237 a0011c0031t0002g0244 a0012c0025t0001g0047 a0013c0015t0001g0049 a0015c0035t0002g0129	117	252	0.4643	15	c.-16 others(34): Show c.-16-17386_-16-17385insTAAACACACATTTTG	RAI1	ENSG00000108557.20	transcript	ENST00000353383.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPA1_chr14_35533356_35814295	35541040	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0117 a0001c0004t0001g0117	1	272	0.0037	15	c.24 others(32): Show c.24-1365_*24-1351dupAAAAAAAAAAAAAAA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	41/41			chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35542884	T T	TGGATATG others(8): Show TGGATATGACTTTTGG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	272	0.0037	15	c.24 others(32): Show c.24-3209_*24-3195dupCCAAAAGTCATATCC	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	41/41			chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35563020	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0131 a0001c0004t0001g0131	1	272	0.0037	15	c.749 others(34): Show c.7496+7582_7496+7596dupTTTTTTTTTTTTTTT	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	39/41			chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35797351	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01069.hp1 others(16): Show HG00099.hp1 HG00733.hp1 HG01069.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01884.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02965.hp1 HG03516.hp2 NA18944.hp1 NA18950.hp1 NA18954.hp2 NA18961.hp2 NA18984.hp1 NA19011.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0139 others(16): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0181 a0001c0002t0001g0187	19	272	0.0699	15	c.106 others(34): Show c.106+11364_106+11378dupTTTTTTTTTTTTTTT	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	1/41			chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35811768	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0263 a0012c0014t0001g0263	1	272	0.0037	15	c.-29 others(26): Show c.-2934_-2933insATATATATATATATA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding		2474		chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35811770	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0205	1	272	0.0037	15	c.-29 others(26): Show c.-2936_-2935insATATATATATATATA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding		2476		chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35811774	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	272	0.0037	15	c.-29 others(26): Show c.-2940_-2939insATATATATATATATA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding		2480		chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35811776	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	272	0.0037	15	c.-29 others(26): Show c.-2942_-2941insATATATATATATATA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding		2482		chr14	TogoVar
RALGAPA2_chr20_20384530_20717644	20642149	G G	GAGGGGAG others(8): Show GAGGGGAGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03098.hp2 NA19056.hp1 HG00673.hp2 HG03098.hp2 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0002 a0001c0004t0046 a0001c0003t0002 a0001c0004t0002 a0001c0004t0046	a0001c0003t0002g0076 a0001c0004t0002g0006 a0001c0004t0046g0118 a0001c0003t0002g0076 a0001c0004t0002g0006 a0001c0004t0046g0118	3	122	0.0246	15	c.373 others(32): Show c.373-1272_373-1271insTCTCTCCCCTCCCCT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	5/39			chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20653195	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03834.hp1 HG01071.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0023 a0001c0003t0001 a0001c0003t0023	a0001c0003t0001g0074 a0001c0003t0023g0072 a0001c0003t0001g0074 a0001c0003t0023g0072	2	122	0.0164	15	c.328 others(30): Show c.328+320_328+334dupTTTTTTTTTTTTTTT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	4/39			chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20712603	T T	TGCCGCCG others(8): Show TGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0049 a0001c0004t0049	a0001c0004t0049g0122 a0001c0004t0049g0122	1	122	0.0082	15	c.-13 others(24): Show c.-138_-124dupGGCGGCGGCGGCGGC	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	1/40	124		chr20	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	276	0.0036	15	c.-65 others(32): Show c.-65-4082_-65-4081insAAAAAAAAAAATATA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 homoSapiens_chm13v2.hp1 HG01981.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0027 a0001c0001t0001g0036 a0001c0001t0002g0027	2	276	0.0073	15	c.-65 others(32): Show c.-65-4082_-65-4081insAAAAAAATATATATA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18971.hp1 HG00140.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0021 a0001c0001t0002g0032	2	276	0.0073	15	c.-65 others(32): Show c.-65-4082_-65-4081insAAAAATATATATATA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127041031	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	276	0.0036	15	c.300 others(32): Show c.300+6517_300+6518insGTGTGTGTGTGTGTG	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	5/18			chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(8): Show TTAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01952.hp2 HG02004.hp2 HG00609.hp2 HG01952.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0250 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0250	3	276	0.0109	15	c.911 others(32): Show c.911-6259_911-6258insTAAAAAAAAAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALGPS2_chr1_178720244_178926840	178856394	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0041 a0001c0001t0012g0041	1	306	0.0033	15	c.608 others(34): Show c.608-21086_608-21072dupTTTTTTTTTTTTTTT	RALGPS2	ENSG00000116191.19	transcript	ENST00000367635.8	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
RALYL_chr8_84178274_84926844	84223081	G G	GCCTTTCC others(8): Show GCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0002 a0001c0001t0016g0002	1	82	0.0122	15	c.-24 others(34): Show c.-24+38719_-24+38733dupCTTTCCTTTCCTTTC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84223209	C C	CTCCCTTC others(8): Show CTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG06807.hp1 HG02145.hp1 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045	3	82	0.0366	15	c.-24 others(34): Show c.-24+38809_-24+38823dupCTTCCCTTCCCTTCC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84223212	C C	CCTTCCCT others(8): Show CCTTCCCTTCCCTTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG03471.hp2 others(1): Show HG02922.hp2 HG03098.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0004 a0001c0001t0002g0032 a0001c0001t0008g0023 others(1): Show a0001c0001t0001g0004 a0001c0001t0002g0032 a0001c0001t0008g0023 a0001c0001t0014g0024	4	82	0.0488	15	c.-24 others(34): Show c.-24+38802_-24+38803insTCTTCCCTTCCCTTC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84371575	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	82	0.0122	15	c.-23 others(36): Show c.-23-157724_-23-157723insCACACACACACACAC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8			chr8	TogoVar
RALYL_chr8_84178274_84926844	84535602	A A	ATTATTTT others(8): Show ATTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0052 a0001c0001t0004g0026 a0001c0001t0002g0052 a0001c0001t0004g0026	2	82	0.0244	15	c.256 others(32): Show c.256+6053_256+6067dupATTTTATTTTATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84704480	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	82	0.0122	15	c.257 others(34): Show c.257-70096_257-70095insCACACACACACAACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAMP1_chr2_237854623_237917106	237908410	C C	CTGGTGGT others(8): Show CTGGTGGTGGTAGTGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	404	0.0025	15	c.192 others(32): Show c.192-3108_192-3107insAGTGGTGGTGGTGGT	RAMP1	ENSG00000132329.11	transcript	ENST00000254661.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
RANBP17_chr5_170857018_171305015	170860722	T T	TAGAGAGA others(8): Show TAGAGAGAGGAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0001 a0012c0005t0001	a0012c0005t0001g0073 a0012c0005t0001g0073	1	192	0.0052	15	c.-13 others(26): Show c.-1312_-1311insAGAGAGAGGAGAAAG	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding		1295		chr5	TogoVar
RANBP17_chr5_170857018_171305015	170868417	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02809.hp2 others(2): Show HG01243.hp2 HG02055.hp1 HG02809.hp2 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 others(2): Show a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012	5	192	0.0260	15	c.18+ others(30): Show c.18+6380_18+6394dupTGTTGTTGTTGTTGT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	171089663	G G	GCGCCGTT others(8): Show GCGCCGTTTTTTAAGC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0083 a0001c0015t0001g0083	1	192	0.0052	15	c.171 others(36): Show c.1711-80464_1711-80450dupCCGTTTTTTAAGCCG	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	171277637	G G	GTGTATAT others(8): Show GTGTATATATATAATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	192	0.0052	15	c.294 others(36): Show c.2943+11791_2943+11792insGTATATATATAATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	171277668	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	192	0.0052	15	c.294 others(36): Show c.2943+11821_2943+11822insATATATATATATATA	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27			chr5	TogoVar
RANBP2_chr2_108714482_108790809	108750556	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG03209.hp1 others(1): Show HG00099.hp2 HG01346.hp1 HG03209.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0022 a0001c0001 a0002c0022	a0001c0001t0001 a0002c0022t0001 a0001c0001t0001 a0002c0022t0001	a0001c0001t0001g0131 a0001c0001t0001g0155 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0155 a0001c0001t0001g0172 a0002c0022t0001g0163	4	232	0.0172	15	c.127 others(32): Show c.1274-673_1274-659dupTCTTTTCTTTTCTTT	RANBP2	ENSG00000153201.17	transcript	ENST00000283195.11	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
RANBP2_chr2_108714482_108790809	108786693	C C	CGCCCCGC others(8): Show CGCCCCGCCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	232	0.0043	15	c.27 others(26): Show c.2792_*2793insGCCCCGCCCCGCCCT	RANBP2	ENSG00000153201.17	transcript	ENST00000283195.11	protein_coding		885		chr2	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01258.hp2 others(3): Show HG00140.hp2 HG00738.hp2 HG01258.hp2 HG02109.hp2 HG02572.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0146 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0146 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0208	6	322	0.0186	15	c.407 others(32): Show c.407-3592_407-3578dupTTTTTTTTTTTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RANBP3_chr19_5911139_5983140	5961732	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0235 a0001c0009t0001g0235	1	322	0.0031	15	c.23- others(30): Show c.23-3774_23-3760dupTTTTGTTTTGTTTTG	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	1/16			chr19	TogoVar
RANBP3_chr19_5911139_5983140	5979530	G G	GTATATAT others(8): Show GTATATATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	322	0.0031	15	c.-14 others(26): Show c.-1449_-1448insTATATTATATATATA	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding		1391		chr19	TogoVar
RANBP9_chr6_13616498_13716835	13627630	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp2 NA18945.hp1 others(9): Show HG00597.hp2 HG01981.hp2 NA18945.hp1 NA18953.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18998.hp1 NA19001.hp2 NA19009.hp1 NA19079.hp2 NA19087.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0010 a0001c0001 a0002c0003 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0004c0010t0001	a0001c0001t0001g0220 a0001c0001t0001g0309 a0001c0001t0001g0310 others(9): Show a0001c0001t0001g0220 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0002g0211 a0002c0003t0001g0347 a0004c0010t0001g0005	12	360	0.0333	15	c.194 others(34): Show c.1948-1881_1948-1867dupTTTTTTTTTTTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	12/13			chr6	TogoVar
RANBP9_chr6_13616498_13716835	13666600	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01981.hp1 HG03831.hp2 HG00735.hp1 HG01981.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0027 a0001c0002t0001g0067 a0001c0002t0002g0064 a0001c0002t0001g0027 a0001c0002t0001g0067 a0001c0002t0002g0064	3	360	0.0083	15	c.684 others(32): Show c.684-7783_684-7769dupTTTTTTTTTTTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	2/13			chr6	TogoVar

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