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
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	16	0.0625	30	c.6+2 others(41): Show c.6+295_6+324dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH10_chr8_73289602_73330281	73315159	T T	TCCCCCCC others(23): Show TCCCCCCCACCGGCCTCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	391	0.0026	30	c.526 others(47): Show c.526-3960_526-3931dupCACCGGCCTCCTCTCTCTCTCTCTCCCC CC	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02293.hp2 HG02451.hp1 others(3): Show HG02132.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 NA19005.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(3): Show a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0003g0227 a0001c0001t0003g0236 a0001c0001t0004g0313	6	98	0.0612	30	c.-65 others(47): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02559.hp1 HG02572.hp2 others(10): Show HG02040.hp2 HG02559.hp1 HG02572.hp2 HG02818.hp1 HG02976.hp2 HG03471.hp2 HG03516.hp1 HG04199.hp1 HG06807.hp2 NA18942.hp2 NA18951.hp1 NA18984.hp2 NA19002.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0006 a0007c0009 a0001c0001 a0003c0006 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0003c0006t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0006t0003 a0007c0009t0001	a0001c0001t0001g0205 a0001c0001t0001g0284 a0001c0001t0001g0303 others(10): Show a0001c0001t0001g0205 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0321 a0001c0001t0001g0347 a0001c0001t0002g0353 a0001c0001t0002g0357 a0001c0001t0002g0359 a0003c0006t0003g0386 a0007c0009t0001g0365	13	46	0.2826	30	c.101 others(47): Show c.101-4134_101-4105dupATATATATATATATATATATATATATAT AT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	133	0.0075	30	c.440 others(47): Show c.440-1206_440-1177dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECQL4_chr8_144506288_144522833	144511181	G G	GGTCAATA others(23): Show GGTCAATAAAGCCACATGTGCCTGTGGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0034 a0002c0022t0001g0034	1	410	0.0024	30	c.22 others(39): Show c.220_*249dupTGGGCCACAGGCACATGTGGCTTTATTGAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding		106		chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(23): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGCCG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	333	0.0030	30	c.205 others(45): Show c.2059-80_2059-79insCGGCCACGCCGACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP1_chr2_86208993_86342626	86226087	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCACCACCATCAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp1 HG03579.hp2 HG02818.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0006 a0001c0001t0020	a0001c0001t0006g0046 a0001c0001t0006g0305 a0001c0001t0020g0157 a0001c0001t0006g0046 a0001c0001t0006g0305 a0001c0001t0020g0157	3	314	0.0096	30	c.631 others(47): Show c.631+1275_631+1276insATGATGGTGGTGGTGGTGGTGGTGGTGG TG	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86226096	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCACCACCATCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0088 a0001c0001t0012g0088	1	318	0.0031	30	c.631 others(47): Show c.631+1266_631+1267insATGATGGTGGTGGTGGTGGTGGTGGTGG TG	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8			chr2	TogoVar
REEP3_chr10_63516401_63630128	63521335	C C	CGGCGGGC others(23): Show CGGCGGGCGGGGGCGGGCGGGGGCGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0221 a0001c0001t0007g0221	1	280	0.0036	30	c.-21 others(39): Show c.-211_-210insGGCGGGCGGGGGCGGGCGGGGGCGGGCGGG	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding		65		chr10	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19080.hp2 NA20300.hp2 NA19066.hp1 NA19080.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0079 a0001c0001t0001g0028 a0001c0001t0002g0079	3	5	0.6000	30	c.116 others(47): Show c.116-1562_116-1561insACACACACACACACACACACACACACAC AC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAGAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	241	0.0041	30	c.34 others(41): Show c.3485_*3486insAAAAAAAAAAAAAAAAAAAGAAAAAAAAAA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2770		chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(23): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	65	0.0154	30	c.164 others(45): Show c.164-138_164-137insTGTGTGTGAGAGAGAGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	65	0.0154	30	c.164 others(45): Show c.164-138_164-137insTGTGTGTGTGAGAGAGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELN_chr7_103466789_103994658	103489215	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGCGCGCGCACGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0001 a0032 a0001 a0032	a0001c0041 a0032c0082 a0001c0041 a0032c0082	a0001c0041t0017 a0032c0082t0006 a0001c0041t0017 a0032c0082t0006	a0001c0041t0017g0035 a0032c0082t0006g0151 a0001c0041t0017g0035 a0032c0082t0006g0151	2	179	0.0112	30	c.976 others(47): Show c.9763+526_9763+527insGCGCGCGCGCGTGCGCGCGCACACACAC AC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	60/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103522838	G G	GACACACA others(23): Show GACACACACACACACAGACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp1 others(94): Show HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01169.hp2 HG01243.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02083.hp1 HG02132.hp2 HG02258.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18969.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18988.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0015 a0021 a0022 a0023 a0025 a0026 a0027 a0029 a0031 a0033 a0035	a0001c0001 a0001c0002 a0001c0004 others(43): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0018 a0001c0020 a0001c0022 a0001c0024 a0001c0025 a0001c0027 a0001c0036 a0001c0037 a0001c0038 a0001c0045 a0001c0047 a0001c0048 a0001c0065 a0001c0066 a0001c0070 a0002c0010 a0002c0014 a0002c0021 a0003c0028 a0004c0017 a0004c0062 a0004c0063 a0005c0078 a0005c0079 a0006c0013 a0007c0012 a0008c0044 a0008c0055 a0015c0068 a0021c0080 a0022c0043 a0023c0033 a0025c0083 a0026c0039 a0027c0069 a0029c0074 a0031c0052 a0033c0077 a0035c0072	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(63): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0008t0002 a0001c0008t0008 a0001c0011t0001 a0001c0011t0002 a0001c0018t0001 a0001c0020t0001 a0001c0020t0004 a0001c0022t0001 a0001c0024t0001 a0001c0025t0001 a0001c0027t0001 a0001c0027t0002 a0001c0036t0005 a0001c0037t0001 a0001c0038t0001 a0001c0045t0012 a0001c0047t0002 a0001c0048t0010 a0001c0065t0002 a0001c0066t0007 a0001c0070t0001 a0002c0010t0001 a0002c0010t0002 a0002c0010t0009 a0002c0014t0001 a0002c0021t0001 a0003c0028t0001 a0004c0017t0001 a0004c0017t0004 a0004c0062t0002 a0004c0063t0001 a0005c0078t0001 a0005c0079t0001 a0006c0013t0001 a0006c0013t0002 a0007c0012t0001 a0007c0012t0002 a0008c0044t0008 a0008c0055t0002 a0015c0068t0001 a0021c0080t0014 a0022c0043t0004 a0023c0033t0001 a0025c0083t0001 a0026c0039t0001 a0027c0069t0001 a0029c0074t0001 a0031c0052t0001 a0033c0077t0001 a0035c0072t0001	a0001c0001t0001g0129 a0001c0001t0004g0160 a0001c0001t0013g0164 others(94): Show a0001c0001t0001g0129 a0001c0001t0004g0160 a0001c0001t0013g0164 a0001c0002t0001g0041 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0005 a0001c0002t0002g0016 a0001c0002t0003g0167 a0001c0002t0005g0183 a0001c0002t0011g0177 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0065 a0001c0004t0001g0090 a0001c0004t0001g0092 a0001c0004t0001g0100 a0001c0004t0001g0137 a0001c0004t0005g0179 a0001c0005t0001g0044 a0001c0005t0002g0006 a0001c0005t0002g0010 a0001c0005t0007g0118 a0001c0006t0001g0047 a0001c0006t0001g0082 a0001c0006t0001g0087 a0001c0006t0001g0097 a0001c0006t0001g0141 a0001c0006t0002g0028 a0001c0006t0003g0174 a0001c0006t0003g0176 a0001c0008t0002g0034 a0001c0008t0008g0001 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0015 a0001c0018t0001g0059 a0001c0018t0001g0081 a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0022t0001g0062 a0001c0022t0001g0077 a0001c0024t0001g0110 a0001c0025t0001g0058 a0001c0025t0001g0072 a0001c0027t0001g0128 a0001c0027t0002g0017 a0001c0036t0005g0182 a0001c0037t0001g0078 a0001c0038t0001g0075 a0001c0045t0012g0165 a0001c0047t0002g0003 a0001c0048t0010g0178 a0001c0065t0002g0026 a0001c0066t0007g0123 a0001c0070t0001g0120 a0002c0010t0001g0133 a0002c0010t0002g0020 a0002c0010t0009g0184 a0002c0014t0001g0064 a0002c0014t0001g0088 a0002c0014t0001g0143 a0002c0021t0001g0113 a0002c0021t0001g0140 a0003c0028t0001g0095 a0003c0028t0001g0146 a0004c0017t0001g0122 a0004c0017t0004g0163 a0004c0062t0002g0004 a0004c0063t0001g0147 a0005c0078t0001g0157 a0005c0079t0001g0156 a0006c0013t0001g0126 a0006c0013t0002g0019 a0006c0013t0002g0023 a0007c0012t0001g0070 a0007c0012t0001g0096 a0007c0012t0002g0007 a0008c0044t0008g0002 a0008c0055t0002g0021 a0015c0068t0001g0108 a0021c0080t0014g0152 a0022c0043t0004g0161 a0023c0033t0001g0148 a0025c0083t0001g0154 a0026c0039t0001g0116 a0027c0069t0001g0125 a0029c0074t0001g0048 a0031c0052t0001g0079 a0033c0077t0001g0155 a0035c0072t0001g0127	97	130	0.7462	30	c.749 others(47): Show c.7490+552_7490+553insGTCTGTGTGTGTGTCTGTGTGTGTGTGT GT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	47/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103522851	A A	ACAGACAC others(23): Show ACAGACACACACACAGACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0166 a0001c0004t0003g0166	1	182	0.0055	30	c.749 others(47): Show c.7490+539_7490+540insGGTGTGTGTGTGTGTCTGTGTGTGTGTC TG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	47/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31486392	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	311	0.0032	30	c.19 others(41): Show c.1962_*1963insGAGAGAGAGAGAGAGAGAGAGAGAGAGACA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1498		chr20	TogoVar
REPS2_chrX_16941658_17158272	17093166	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	150	0.0067	30	c.151 others(51): Show c.1517-10547_1517-10518dupTATATATATATATATATATATATA TATATA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401386	C C	CCCTCCTC others(23): Show CCCTCCTCCTCCCTCCTTCCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	352	0.0028	30	c.365 others(45): Show c.365+467_365+468insTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8372507	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	36	0.0278	30	c.128 others(49): Show c.1285-6563_1285-6534dupACACACACACACACACACACACACAC ACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0008 a0001c0022t0008	a0001c0022t0008g0082 a0001c0022t0008g0082	1	32	0.0313	30	c.831 others(47): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	29	0.0345	30	c.523 others(47): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19002.hp2 HG01934.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0008 a0002c0006t0003 a0001c0003t0008 a0002c0006t0003	a0001c0003t0008g0085 a0002c0006t0003g0090 a0001c0003t0008g0085 a0002c0006t0003g0090	2	41	0.0488	30	c.-14 others(51): Show c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT TTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0099 a0001c0007t0003g0099	1	40	0.0250	30	c.-14 others(51): Show c.-145+27858_-145+27859insATATATATATATATTTTTTTTTTT TTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0126 a0001c0004t0014g0126	1	40	0.0250	30	c.-14 others(51): Show c.-145+27858_-145+27859insATATATATATATATATATTTTTTT TTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15126128	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	91	0.0110	30	c.62- others(45): Show c.62-5010_62-5009insATATATATATATATATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15133146	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	77	0.0130	30	c.62- others(47): Show c.62-12028_62-12027insATATATATATATATATATATATATATAT AT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG01928.hp2 others(11): Show HG01346.hp1 HG01433.hp1 HG01928.hp2 HG02055.hp1 HG02080.hp2 HG02135.hp1 HG02735.hp1 HG03453.hp1 HG04184.hp2 NA18967.hp2 NA18979.hp1 NA19000.hp2 NA19068.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0005t0017	a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0067 others(10): Show a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0164 a0001c0001t0003g0183 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0182 a0001c0001t0010g0004 a0001c0005t0017g0154	14	305	0.0459	30	c.-28 others(41): Show c.-2894_-2893insATATATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02132.hp1 HG03688.hp1 others(3): Show HG01993.hp1 HG02132.hp1 HG03688.hp1 NA18961.hp2 NA18962.hp2 NA19054.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0007 a0002c0002t0012 others(1): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0012 a0003c0003t0002	a0002c0002t0001g0052 a0002c0002t0001g0212 a0002c0002t0001g0240 others(3): Show a0002c0002t0001g0052 a0002c0002t0001g0212 a0002c0002t0001g0240 a0002c0002t0007g0294 a0002c0002t0012g0268 a0003c0003t0002g0125	6	151	0.0397	30	c.-28 others(41): Show c.-2876_-2875insATATATATATATATATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(6): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00735.hp2 HG01261.hp2 HG02572.hp1 NA18977.hp1 NA18987.hp1 NA19057.hp1	a0004 a0004	a0004c0004 a0004c0007 a0004c0004 a0004c0007	a0004c0004t0005 a0004c0007t0009 a0004c0004t0005 a0004c0007t0009	a0004c0004t0005g0022 a0004c0004t0005g0042 a0004c0004t0005g0043 others(5): Show a0004c0004t0005g0022 a0004c0004t0005g0042 a0004c0004t0005g0043 a0004c0004t0005g0190 a0004c0004t0005g0196 a0004c0004t0005g0200 a0004c0004t0005g0201 a0004c0007t0009g0191	9	382	0.0236	30	c.-28 others(41): Show c.-2875_-2874insTATATATATATATATATATATATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
REV3L_chr6_111294033_111488218	111422599	T T	TATATATA others(23): Show TATATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	283	0.0035	30	c.140 others(47): Show c.140-6128_140-6127insGTGTATATATATATATGTGTATATATAT AT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820512	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 NA19068.hp1 HG01516.hp2 HG01517.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0163 a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0163	3	306	0.0098	30	c.476 others(47): Show c.476-1246_476-1217dupATATATATATATATATATATATATATAT AT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	18	0.0556	30	c.332 others(47): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39343199	T T	TTTTAGTA others(23): Show TTTTAGTAGAGACAGGGTTTTACTATGTTGG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	274	0.0036	30	c.209 others(45): Show c.209-762_209-733dupCCAACATAGTAAAACCCTGTCTCTACTAAA	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	3/24			chr4	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(23): Show TATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	341	0.0029	30	c.810 others(45): Show c.810-817_810-816insATATATATATATATATATACACACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(23): Show TATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03834.hp2 NA18954.hp1 others(2): Show HG00673.hp1 HG03834.hp2 NA18954.hp1 NA18989.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	5	345	0.0145	30	c.810 others(45): Show c.810-817_810-816insATATATATATATATATATATACACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFPL4A_chr19_55754097_55768421	55759694	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	457	0.0022	30	c.-10 others(45): Show c.-10+522_-10+523insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RFPL4A	ENSG00000223638.4	transcript	ENST00000434937.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
RFTN1_chr3_16310845_16518699	16345264	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	29	0.0345	30	c.114 others(51): Show c.1146+12638_1146+12667dupCACACACACACACACACACACACA CACACA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0248 a0001c0001t0001g0118 a0001c0001t0001g0248	2	17	0.1176	30	c.442 others(47): Show c.442-9498_442-9469dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0051 a0001c0002t0011g0051	1	187	0.0053	30	c.333 others(47): Show c.333-5948_333-5947insGTGTGTGTGTGTATATATATATATATAT AT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197625699	C C	CTCTCCTC others(23): Show CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG03492.hp1 others(1): Show HG02809.hp1 HG02970.hp2 HG03492.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0025	a0001c0001t0001g0073 a0001c0001t0007g0078 a0001c0001t0009g0135 others(1): Show a0001c0001t0001g0073 a0001c0001t0007g0078 a0001c0001t0009g0135 a0001c0001t0025g0096	4	193	0.0207	30	c.928 others(47): Show c.928+5311_928+5312insAGAGAGGAGAGGAGAGGAGAGGAGAGGA GA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFWD3_chr16_74616399_74671877	74630567	T T	TACTTGTA others(23): Show TACTTGTACCAGAACTCTCCATCATATGAAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0195	1	410	0.0024	30	c.175 others(47): Show c.1754+184_1754+213dupTTTCATATGATGGAGAGTTCTGGTACAA GT	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	10/12			chr16	TogoVar
RFX3_chr9_3213297_3531001	3467066	A A	ATAAGTAT others(23): Show ATAAGTATATATGTATATACATACATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18968.hp1 HG01109.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0050 a0001c0001t0014 a0001c0001t0050	a0001c0001t0014g0055 a0001c0001t0050g0069 a0001c0001t0014g0055 a0001c0001t0050g0069	2	185	0.0108	30	c.-9+ others(47): Show c.-9+58651_-9+58680dupCATATATGTATGTATATACATATATACT TA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504857	G G	GATATAAC others(23): Show GATATAACATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0121 a0001c0001t0051g0121	1	113	0.0088	30	c.-9+ others(47): Show c.-9+20889_-9+20890insTATATATAATATATATAATATATGTTAT AT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504864	T T	TATATATT others(23): Show TATATATTATATATATTATATATAATATAAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	126	0.0079	30	c.-9+ others(47): Show c.-9+20853_-9+20882dupGTTATATTATATATAATATATATAATAT AT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504906	A A	ATATTATA others(23): Show ATATTATATATAATATAACATATATTATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02615.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0064 a0001c0001t0010 a0001c0001t0064	a0001c0001t0010g0096 a0001c0001t0064g0120 a0001c0001t0010g0096 a0001c0001t0064g0120	2	183	0.0109	30	c.-9+ others(47): Show c.-9+20840_-9+20841insTATATAATATATGTTATATTATATATAA TA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106641967	C C	CTATATCT others(23): Show CTATATCTATATCTATCTATATCTATATCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	126	0.0079	30	c.191 others(47): Show c.191+2578_191+2579insATCTATATCTATCTATATCTATATCTAT AT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX6_chr6_116872242_116937161	116936488	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA18955.hp2 NA18980.hp2 HG01243.hp2 NA18955.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0159 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0159	3	49	0.0612	30	c.49 others(41): Show c.4982_*4983insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4328		chr6	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01928.hp2 HG02280.hp2 others(3): Show HG01891.hp2 HG01928.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0005t0006	a0001c0001t0001g0293 a0001c0003t0001g0299 a0001c0003t0001g0344 others(3): Show a0001c0001t0001g0293 a0001c0003t0001g0299 a0001c0003t0001g0344 a0001c0003t0004g0304 a0001c0005t0006g0016 a0001c0005t0006g0033	6	89	0.0674	30	c.401 others(47): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT AT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar

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