Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
POTEG_chr14_19397486_19439341	19434943	GGCGTGCG others(64): Show GGCGTGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGT GCGGCGTGCGCGTGCGGCGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0003	a0009c0008t0003g0037 a0009c0008t0003g0037	1	111	0.0090	-71	c.-72 others(80): Show c.-725_-655delGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCA CGCGCACGCCGCACGCGCACGCCGCACGCGCACGC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		603		chr14	TogoVar
PPP2R2D_chr10_131896008_131964834	131952806	GCAGTGAC others(64): Show GCAGTGACTTGCGGGTGTGTGTGTGGGGTTCACTGTCTTAGCAGTGACTT GCGGGGGGGGTCCCTGTCTTAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01070.hp1 others(36): Show HG00280.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02055.hp1 HG02129.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG02970.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 NA18944.hp1 NA18957.hp2 NA18971.hp2 NA18986.hp2 NA19043.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0032 others(8): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0032 a0001c0001t0034 a0001c0001t0041 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0087 a0001c0001t0099 a0001c0001t0102	a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0004g0057 others(32): Show a0001c0001t0004g0003 a0001c0001t0004g0012 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0008g0011 a0001c0001t0008g0035 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0032g0017 a0001c0001t0034g0018 a0001c0001t0041g0266 a0001c0001t0069g0012 a0001c0001t0071g0052 a0001c0001t0072g0137 a0001c0001t0087g0139 a0001c0001t0099g0003 a0001c0001t0102g0145	39	394	0.0990	-71	c.108 others(90): Show c.1083-2855_1083-2785delTGGGGTTCACTGTCTTAGCAGTGACT TGCGGGGGGGGTCCCTGTCTTATCAGTGACTTGCGGGTGTGTGTG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131957820	AGGTGTGT others(64): Show AGGTGTGTGCTGATCCCCCATCCCCATGTGGAGATGAAGGGGTGTGTTGA TCCCCTGTCCCCCTGTGGAGAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0266 a0001c0001t0041g0266	1	394	0.0025	-71	c.18 others(82): Show c.1875_*1945delCATCCCCATGTGGAGATGAAGGGGTGTGTTGATC CCCTGTCCCCCTGTGGAGATGGTGTGTGCTGATCCCC	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	1875	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP6R2_chr22_50338327_50450090	50340241	TGTGGTGT others(64): Show TGTGGTGTGTGTGGAGGGTGTGTGTGGTGTGTGTGGTATGTGGTATGTGT GTGGTATGTGGTGTGTGTCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	340	0.0029	-71	c.-34 others(82): Show c.-3456_-3386delGTGGTGTGTGTGGAGGGTGTGTGTGGTGTGTGTG GTATGTGGTATGTGTGTGGTATGTGGTGTGTGTCTCG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		3085		chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	AGGGGGCC others(64): Show AGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19090.hp1 NA19064.hp1 NA19090.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0020 a0008c0012t0020	a0008c0012t0020g0078 a0008c0012t0020g0079 a0008c0012t0020g0078 a0008c0012t0020g0079	2	340	0.0059	-71	c.227 others(88): Show c.227+3434_227+3504delCTGTCATCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAMEF18_chr1_13217695_13231154	13227885	CATTCCAC others(64): Show CATTCCACCAAGAATGACGCAGGAAGACAATGTCTCAAAGAAAAAAAAAA AAAGACTTCAGTCAATTGCATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0019 a0012c0013t0001g0019	1	265	0.0038	-71	c.-18 others(82): Show c.-1850_-1780delAATGCAATTGACTGAAGTCTTTTTTTTTTTTTCT TTGAGACATTGTCTTCCTGCGTCATTCTTGGTGGAAT	PRAMEF18	ENSG00000279804.3	transcript	ENST00000624297.3	protein_coding		1732		chr1	TogoVar
PRKD3_chr2_37245502_37329833	37249572	CACACACA others(64): Show CACACACACACACACACACACACACACACACAGAGGGGAGATCGCTCCGT TGCACTGTAGCCTGTGATAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0027 a0001c0009t0027	a0001c0009t0027g0378 a0001c0009t0027g0378	1	388	0.0026	-71	c.35 others(82): Show c.3534_*3604delCTCTATCACAGGCTACAGTGCAACGGAGCGATCT CCCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		929		chr2	TogoVar
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(64): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01928.hp1 others(2): Show HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02735.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0025 a0001c0002t0001g0256 a0001c0002t0001g0330 others(2): Show a0001c0002t0001g0025 a0001c0002t0001g0256 a0001c0002t0001g0330 a0001c0007t0001g0250 a0001c0007t0001g0251	5	334	0.0150	-71	c.150 others(90): Show c.1506+2320_1506+2390delCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCTTCTTTTCTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PVALB_chr22_36795703_36822035	36799376	AGGGACAC others(64): Show AGGGACACAGGCTCTGGAGGTGATGCTGGGGTTGGGGTCCTGGATCCTCC CCGTGGTGGCTGTGTGACTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	421	0.0024	-71	c.14 others(82): Show c.1443_*1513delAAAAGTCACACAGCCACCACGGGGAGGATCCAGG ACCCCAACCCCAGCATCACCTCCAGAGCCTGTGTCCC	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		1326		chr22	TogoVar
PXMP2_chr12_132682587_132709985	132694024	TAGTTAGT others(64): Show TAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGT TAGATAGTGAGCGCCCTTAGCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0005 a0001c0004t0004 a0001c0004t0005	a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0078 others(2): Show a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0078 a0001c0004t0004g0079 a0001c0004t0005g0010	9	350	0.0257	-71	c.237 others(88): Show c.237-1830_237-1760delAGTGAGCGCCCTTAGCCAGTTAGATAGT GAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTA	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB44_chr6_36692826_36738184	36710587	GTCCAGGC others(64): Show GTCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCC TCCTGGGAGTCTCACTCTGTCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(96): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0018 a0020 a0023 a0025	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0018 a0002c0026 a0004c0008 a0004c0013 a0005c0010 a0006c0012 a0007c0011 a0010c0021 a0011c0020 a0012c0028 a0013c0035 a0018c0025 a0020c0024 a0023c0029 a0025c0019	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(29): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0004t0001 a0001c0004t0004 a0001c0004t0027 a0001c0004t0028 a0002c0005t0001 a0002c0005t0002 a0002c0005t0005 a0002c0005t0008 a0002c0005t0009 a0002c0005t0010 a0002c0005t0011 a0002c0005t0017 a0002c0018t0002 a0002c0018t0008 a0002c0026t0003 a0004c0008t0001 a0004c0008t0024 a0004c0013t0001 a0005c0010t0006 a0006c0012t0001 a0007c0011t0029 a0010c0021t0022 a0011c0020t0010 a0012c0028t0021 a0013c0035t0016 a0018c0025t0001 a0020c0024t0001 a0023c0029t0002 a0025c0019t0019	a0001c0001t0001g0256 a0001c0001t0015g0239 a0001c0002t0003g0337 others(79): Show a0001c0001t0001g0256 a0001c0001t0015g0239 a0001c0002t0003g0337 a0001c0004t0001g0006 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0193 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0254 a0001c0004t0001g0255 a0001c0004t0001g0257 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0001g0262 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0268 a0001c0004t0001g0269 a0001c0004t0001g0271 a0001c0004t0001g0272 a0001c0004t0001g0273 a0001c0004t0001g0274 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0285 a0001c0004t0001g0287 a0001c0004t0004g0270 a0001c0004t0027g0299 a0001c0004t0028g0258 a0002c0005t0001g0002 a0002c0005t0001g0031 a0002c0005t0001g0036 a0002c0005t0001g0203 a0002c0005t0001g0204 a0002c0005t0001g0205 a0002c0005t0001g0229 a0002c0005t0001g0231 a0002c0005t0001g0232 a0002c0005t0002g0213 a0002c0005t0002g0228 a0002c0005t0005g0032 a0002c0005t0008g0293 a0002c0005t0008g0294 a0002c0005t0008g0295 a0002c0005t0009g0202 a0002c0005t0010g0063 a0002c0005t0011g0212 a0002c0005t0011g0233 a0002c0005t0011g0240 a0002c0005t0017g0043 a0002c0018t0002g0238 a0002c0018t0008g0284 a0002c0026t0003g0308 a0004c0008t0001g0263 a0004c0008t0001g0275 a0004c0008t0001g0276 a0004c0008t0024g0261 a0004c0013t0001g0277 a0004c0013t0001g0286 a0005c0010t0006g0044 a0005c0010t0006g0309 a0006c0012t0001g0024 a0006c0012t0001g0194 a0007c0011t0029g0214 a0010c0021t0022g0062 a0011c0020t0010g0064 a0012c0028t0021g0307 a0013c0035t0016g0296 a0018c0025t0001g0048 a0020c0024t0001g0145 a0023c0029t0002g0241 a0025c0019t0019g0103	99	428	0.2313	-71	c.208 others(88): Show c.208-3204_208-3134delTGCAACCTCCGCCTCCTGGGAGTCTCAC TCTGTCATCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCAC	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RALGAPA2_chr20_20384530_20717644	20676420	AGTATGGA others(64): Show AGTATGGAGAACACATTAGGATTGCAAACAGACAACCGAGCCCGACTGCT CAGATCCACATCCAGCAGAGCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00673.hp1 others(32): Show HG00408.hp1 HG00558.hp1 HG00673.hp1 HG01071.hp1 HG01167.hp1 HG01169.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02300.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG03139.hp2 HG03490.hp2 HG03834.hp1 HG04199.hp1 NA18939.hp2 NA18942.hp2 NA18949.hp2 NA18959.hp1 NA18963.hp2 NA18968.hp1 NA18988.hp1 NA18992.hp1 NA18998.hp1 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19074.hp2 NA19076.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0002c0002 a0004c0006 others(1): Show a0001c0003 a0002c0002 a0004c0006 a0005c0008	a0001c0003t0001 a0001c0003t0002 a0001c0003t0023 others(11): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0023 a0001c0003t0030 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0038 a0002c0002t0040 a0002c0002t0041 a0002c0002t0043 a0004c0006t0013 a0005c0008t0047	a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0073 others(32): Show a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0071 a0001c0003t0023g0072 a0001c0003t0030g0075 a0002c0002t0004g0096 a0002c0002t0004g0098 a0002c0002t0004g0100 a0002c0002t0004g0102 a0002c0002t0004g0105 a0002c0002t0004g0111 a0002c0002t0004g0113 a0002c0002t0006g0108 a0002c0002t0006g0109 a0002c0002t0006g0112 a0002c0002t0006g0114 a0002c0002t0008g0097 a0002c0002t0008g0099 a0002c0002t0008g0101 a0002c0002t0008g0103 a0002c0002t0009g0093 a0002c0002t0009g0094 a0002c0002t0009g0095 a0002c0002t0009g0110 a0002c0002t0038g0107 a0002c0002t0040g0106 a0002c0002t0041g0104 a0002c0002t0043g0116 a0004c0006t0013g0064 a0004c0006t0013g0065 a0005c0008t0047g0121	35	122	0.2869	-71	c.218 others(86): Show c.218-203_218-133delAGCTCTGCTGGATGTGGATCTGAGCAGTCG GGCTCGGTTGTCTGTTTGCAATCCTAATGTGTTCTCCATAC	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	2/39			chr20	TogoVar
RAPGEF2_chr4_159098079_159365173	159150094	ATTAATTT others(64): Show ATTAATTTTGTTATTTGTGGTAGTTATATACTATAATATATAACAGTATA TAACAGTATATAAACAAAATAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02630.hp1 others(9): Show HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03579.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0002t0001 a0001c0005t0012	a0001c0001t0002g0057 a0001c0001t0002g0074 a0001c0001t0005g0086 others(9): Show a0001c0001t0002g0057 a0001c0001t0002g0074 a0001c0001t0005g0086 a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023 a0001c0001t0013g0083 a0001c0001t0013g0084 a0001c0001t0013g0085 a0001c0001t0024g0087 a0001c0002t0001g0157 a0001c0005t0012g0105	12	194	0.0619	-71	c.70- others(88): Show c.70-36512_70-36442delTATATAACAGTATATAACAGTATATAAA CAAAATAGTTAATTTTGTTATTTGTGGTAGTTATATACTATAA	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RASA3_chr13_113972783_114137623	114007359	CCCTGCCG others(64): Show CCCTGCCGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACGCC ACCTTACCCTTCTCCCCTCCTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	-71	c.174 others(88): Show c.1742+103_1742+173delCAGGAGGGGAGAAGGGTAAGGTGGCGTC CAGCAGGGCAGGAGGGGAGAAGGGTAAGGTGGCGTCCGGCAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RBFOX1_chr16_7327845_7718340	7504726	TATATATA others(64): Show TATATATATATATATATATATATATATATTTATATATATATATATTTATA TATATATATATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	234	0.0043	-71	c.88- others(88): Show c.88-13420_88-13350delATATATATATATATATATATATATATAT TTATATATATATATATTTATATATATATATATTTATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13			chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79495529	GCAGAGGG others(64): Show GCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGGGGCAGGGATGGGGAT GTGGGAAGGTGGGGGAGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00642.hp2 others(26): Show HG00323.hp2 HG00438.hp2 HG00642.hp2 HG01934.hp2 HG01993.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02451.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG03017.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp1 HG03710.hp2 HG06807.hp2 NA18945.hp2 NA18952.hp1 NA18970.hp2 NA18983.hp2 NA19030.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0017 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0004g0094 a0001c0001t0004g0123 a0001c0001t0004g0133 a0001c0001t0004g0152 a0001c0001t0005g0121 a0001c0001t0006g0119 a0001c0001t0007g0021 a0001c0001t0008g0096 a0001c0001t0009g0088 a0001c0001t0015g0018 a0001c0002t0001g0080 a0001c0002t0002g0139 a0001c0002t0002g0145 a0001c0002t0003g0047 a0001c0002t0003g0076 a0001c0002t0007g0031	29	154	0.1883	-71	c.-31 others(92): Show c.-319-13002_-319-12932delTACCCCTCCCCCACCTTCCCACAT CCCCATCCCTGCCCCCAGTACCCCTGCCCCCACCTCCCCACCCTCTG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBX1_chr22_40946378_40978309	40956568	CTCAAACT others(64): Show CTCAAACTCCTGACCTCAGGTGATCCATTCGCCTTGGCCTCTCAAACCGC TGGGATTACAGACATGACCCAT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	320	0.0031	-71	c.157 others(88): Show c.157+2947_157+3017delACCTCAGGTGATCCATTCGCCTTGGCCT CTCAAACCGCTGGGATTACAGACATGACCCATTCAAACTCCTG	RBX1	ENSG00000100387.9	transcript	ENST00000216225.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
RGS17_chr6_152999459_153136282	153053920	TATATGTA others(64): Show TATATGTATATATATGTATATATAATATATATACATATATATTATATACA TATATATGTATATATGTATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(54): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG01074.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02738.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18957.hp1 NA18968.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19067.hp1 NA19074.hp2 NA19080.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0030 a0001c0001t0037	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 others(54): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0164 a0001c0001t0001g0275 a0001c0001t0001g0309 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0172 a0001c0001t0002g0192 a0001c0001t0003g0053 a0001c0001t0003g0134 a0001c0001t0004g0022 a0001c0001t0004g0076 a0001c0001t0004g0139 a0001c0001t0005g0122 a0001c0001t0006g0155 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0021 a0001c0001t0008g0074 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0010g0029 a0001c0001t0013g0077 a0001c0001t0014g0033 a0001c0001t0014g0049 a0001c0001t0014g0057 a0001c0001t0017g0154 a0001c0001t0019g0156 a0001c0001t0019g0157 a0001c0001t0021g0050 a0001c0001t0030g0112 a0001c0001t0037g0055	57	338	0.1686	-71	c.-25 others(88): Show c.-25-9948_-25-9878delTATATACATATATACATATATATGTATA TAATATATATGTATATATATTATATATACATATATATACATAT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS6_chr14_71927429_72571530	72052505	CTTGTTTC others(64): Show CTTGTTTCCAGATGGTAGACAAGGCTTATTCTGACACATGGACTGAAAAC AGGGCAGACCAGCAGTCGGAAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	130	0.0077	-71	c.84+ others(88): Show c.84+87631_84+87701delTTGTTTCCAGATGGTAGACAAGGCTTAT TCTGACACATGGACTGAAAACAGGGCAGACCAGCAGTCGGAAT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17			chr14	TogoVar
RILP_chr17_1641150_1654866	1652874	CTCACTGC others(64): Show CTCACTGCTTGCGTTCAAGCAACCTCATCCTCCTGAGTAGCTGGGACTAC AGCCACGTTTTTTTTGGTTTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	375	0.0027	-71	c.-31 others(82): Show c.-3141_-3071delCAAAACCAAAAAAAACGTGGCTGTAGTCCCAGCT ACTCAGGAGGATGAGGTTGCTTGAACGCAAGCAGTGA	RILP	ENSG00000167705.12	transcript	ENST00000301336.7	protein_coding		3009		chr17	TogoVar
RNF213_chr17_80255852_80403794	80257613	GAGGCCCG others(64): Show GAGGCCCGTCAGAACCACAGAAACAAGACCAGGTGCCGGGTGGGCACAGT TAGTGGAGGCATCCTCAGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(72): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19070.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0014 a0017 a0018 a0019 a0021 a0023 a0024 a0025 a0027 a0030 a0032 a0033 a0040 a0042 a0043 a0045 a0050 a0051 a0052 a0053 a0054 a0070 a0075 a0076 a0077 a0079 a0081 a0089 a0092 a0096 a0098 a0101 a0103	a0001c0001 a0001c0003 a0001c0004 others(49): Show a0001c0001 a0001c0003 a0001c0004 a0001c0082 a0001c0132 a0002c0002 a0002c0010 a0002c0121 a0003c0005 a0003c0077 a0004c0009 a0005c0007 a0005c0105 a0006c0011 a0007c0008 a0008c0028 a0011c0036 a0011c0037 a0014c0118 a0017c0019 a0018c0033 a0018c0108 a0019c0142 a0021c0032 a0023c0087 a0024c0026 a0025c0038 a0027c0025 a0030c0112 a0032c0022 a0033c0143 a0040c0104 a0042c0103 a0043c0101 a0045c0096 a0050c0092 a0051c0135 a0052c0134 a0053c0136 a0054c0137 a0070c0066 a0075c0070 a0076c0133 a0077c0081 a0079c0078 a0081c0083 a0089c0115 a0092c0117 a0096c0107 a0098c0109 a0101c0111 a0103c0120	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0034 a0001c0003t0001 a0001c0003t0002 a0001c0004t0007 a0001c0004t0014 a0001c0004t0023 a0001c0004t0068 a0001c0004t0072 a0001c0082t0005 a0001c0132t0026 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0051 a0002c0010t0003 a0002c0121t0004 a0003c0005t0007 a0003c0005t0011 a0003c0005t0023 a0003c0077t0023 a0004c0009t0010 a0005c0007t0003 a0005c0105t0021 a0006c0011t0005 a0007c0008t0008 a0008c0028t0018 a0011c0036t0042 a0011c0036t0043 a0011c0037t0020 a0014c0118t0057 a0017c0019t0024 a0018c0033t0016 a0018c0108t0006 a0019c0142t0030 a0021c0032t0036 a0023c0087t0013 a0024c0026t0007 a0025c0038t0006 a0027c0025t0074 a0030c0112t0079 a0032c0022t0006 a0032c0022t0012 a0033c0143t0013 a0040c0104t0008 a0042c0103t0035 a0043c0101t0003 a0045c0096t0010 a0050c0092t0037 a0051c0135t0078 a0052c0134t0008 a0053c0136t0025 a0054c0137t0016 a0070c0066t0040 a0075c0070t0009 a0076c0133t0081 a0077c0081t0002 a0079c0078t0010 a0081c0083t0027 a0089c0115t0006 a0092c0117t0026 a0096c0107t0039 a0098c0109t0064 a0101c0111t0027 a0103c0120t0050	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0160 others(72): Show a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0160 a0001c0001t0002g0070 a0001c0001t0002g0131 a0001c0001t0002g0157 a0001c0001t0029g0079 a0001c0001t0034g0086 a0001c0003t0001g0036 a0001c0003t0002g0107 a0001c0004t0007g0047 a0001c0004t0014g0046 a0001c0004t0014g0156 a0001c0004t0023g0106 a0001c0004t0068g0125 a0001c0004t0072g0164 a0001c0082t0005g0231 a0001c0132t0026g0006 a0002c0002t0003g0111 a0002c0002t0004g0155 a0002c0002t0010g0113 a0002c0002t0051g0256 a0002c0010t0003g0100 a0002c0121t0004g0067 a0003c0005t0007g0274 a0003c0005t0011g0135 a0003c0005t0023g0134 a0003c0077t0023g0056 a0004c0009t0010g0057 a0005c0007t0003g0235 a0005c0105t0021g0270 a0006c0011t0005g0224 a0007c0008t0008g0078 a0008c0028t0018g0244 a0011c0036t0042g0281 a0011c0036t0043g0280 a0011c0037t0020g0282 a0011c0037t0020g0283 a0014c0118t0057g0167 a0017c0019t0024g0017 a0017c0019t0024g0034 a0018c0033t0016g0033 a0018c0108t0006g0083 a0019c0142t0030g0178 a0021c0032t0036g0022 a0023c0087t0013g0213 a0024c0026t0007g0140 a0025c0038t0006g0007 a0025c0038t0006g0013 a0027c0025t0074g0262 a0030c0112t0079g0276 a0032c0022t0006g0169 a0032c0022t0012g0170 a0033c0143t0013g0177 a0040c0104t0008g0023 a0042c0103t0035g0018 a0043c0101t0003g0061 a0045c0096t0010g0203 a0050c0092t0037g0279 a0051c0135t0078g0016 a0052c0134t0008g0014 a0053c0136t0025g0011 a0054c0137t0016g0015 a0070c0066t0040g0030 a0075c0070t0009g0123 a0076c0133t0081g0008 a0077c0081t0002g0269 a0079c0078t0010g0251 a0081c0083t0027g0116 a0089c0115t0006g0035 a0092c0117t0026g0166 a0096c0107t0039g0081 a0098c0109t0064g0084 a0101c0111t0027g0082 a0103c0120t0050g0249	75	292	0.2569	-71	c.-33 others(82): Show c.-3397_-3327delAGGCCCGTCAGAACCACAGAAACAAGACCAGGTG CCGGGTGGGCACAGTTAGTGGAGGCATCCTCAGCAGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		3238		chr17	TogoVar
RORA_chr15_60483284_61234302	60732793	ACCCACAT others(64): Show ACCCACATACACTCACATACTTACAGCTACGCACACACACGTGCACTTAC ATGCTTCTATAAAGACTATCCT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0106 a0001c0002t0055g0106	1	118	0.0085	-71	c.167 others(90): Show c.167-54178_167-54108delAGGATAGTCTTTATAGAAGCATGTAA GTGCACGTGTGTGTGCGTAGCTGTAAGTATGTGAGTGTATGTGGG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPS8_chr1_44770540_44783779	44782637	TAAATAAA others(64): Show TAAATAAATAAATAAATAAATAAATAAATAAATAAGAAATATTCACTATC CCATGGACATACAGATGGAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-71	c.39 others(82): Show c.3953_*4023delAAATAAATAAATAAATAAATAAATAAATAAATAA GAAATATTCACTATCCCATGGACATACAGATGGAAAG	RPS8	ENSG00000142937.12	transcript	ENST00000396651.8	protein_coding		3859		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80665435	TTCCTTTC others(64): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0020 a0001c0070t0020	a0001c0070t0020g0003 a0001c0070t0020g0003	1	196	0.0051	-71	c.348 others(90): Show c.348+21644_348+21714delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665459	TTTCCTTT others(64): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTC CTTTCCTTTCCTTTCCATGTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0124 a0001c0028t0006g0124	1	196	0.0051	-71	c.348 others(90): Show c.348+21652_348+21722delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP1_chr21_43784577_43810293	43808239	TGCCTGCC others(64): Show TGCCTGCCCCACTCGTGTTAGGAGTTGACCTCTGGGAGAGGCGGTGCCTC CAGCTGTGATGGACACCCAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0086 a0001c0005t0002g0086	1	394	0.0025	-71	c.44 others(82): Show c.4466_*4536delGCCTGCCCCACTCGTGTTAGGAGTTGACCTCTGG GAGAGGCGGTGCCTCCAGCTGTGATGGACACCCAGGG	RRP1	ENSG00000160214.13	transcript	ENST00000497547.2	protein_coding		2947		chr21	TogoVar
RSF1_chr11_77655009_77825722	77820957	CCCCTTCT others(64): Show CCCCTTCTCTCCTCCCCTTCGGGCTTGCCACTGCCTCGTGTGACAGGGGG AATGAAAACAAGGGAAGCGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	352	0.0028	-71	c.-31 others(80): Show c.-314_-244delCCCCGCTTCCCTTGTTTTCATTCCCCCTGTCACACG AGGCAGTGGCAAGCCCGAAGGGGAGGAGAGAAGGG	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding		236		chr11	TogoVar
RUNDC3B_chr7_87623398_87837296	87626271	TGTCATAT others(64): Show TGTCATATATATGTGTCATATATGTGTCATATATATGTGTCGTATATGTG TCATATATATGTGTCGTATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0194 a0001c0001t0011g0194	1	202	0.0050	-71	c.-25 others(82): Show c.-2552_-2482delGTCATATATATGTGTCATATATGTGTCATATATA TGTGTCGTATATGTGTCATATATATGTGTCGTATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2126		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34926486	GACAGCAC others(64): Show GACAGCACATATTTATTATTGACTAAATCTGTCAGCATTTTGATCTACAA CAAACACAAATTGTGTTTTTCT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02723.hp2 others(13): Show HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001	a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0103 others(13): Show a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0004g0124 a0001c0001t0004g0141 a0001c0001t0005g0116 a0001c0001t0024g0132 a0001c0001t0025g0148 a0001c0001t0027g0109 a0001c0002t0003g0145 a0001c0002t0006g0101 a0001c0003t0001g0162	16	170	0.0941	-71	c.59- others(88): Show c.59-33594_59-33524delAGAAAAACACAATTTGTGTTTGTTGTAG ATCAAAATGCTGACAGATTTAGTCAATAATAAATATGTGCTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMHD1_chr20_36885229_36956708	36947392	GTGATTTG others(64): Show GTGATTTGGAAGAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT CCTGGGAAAGCACTCAATACTC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	340	0.0029	-71	c.209 others(86): Show c.209-659_209-589delGAGTATTGAGTGCTTTCCCAGGACACACAC ACACACACACACACACACACACACACACCTCTTCCAAATCA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SBNO1_chr12_123284109_123369847	123297328	TCAAAAAA others(64): Show TCAAAAAAAAAAAAAAAAAAAAAAATTCATTAATTCAAATGAAAACCTAC AACATCCCAAAATACTGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18949.hp2 NA18981.hp2 others(2): Show HG02738.hp2 NA18949.hp2 NA18981.hp2 NA18993.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0090 a0001c0002t0091 others(2): Show a0001c0002t0003 a0001c0002t0090 a0001c0002t0091 a0001c0002t0093 a0001c0002t0094	a0001c0002t0003g0246 a0001c0002t0090g0222 a0001c0002t0091g0223 others(2): Show a0001c0002t0003g0246 a0001c0002t0090g0222 a0001c0002t0091g0223 a0001c0002t0093g0245 a0001c0002t0094g0240	5	260	0.0192	-71	c.403 others(88): Show c.4039+579_4039+649delGACACCAGTATTTTGGGATGTTGTAGGT TTTCATTTGAATTAATGAATTTTTTTTTTTTTTTTTTTTTTTG	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SCGB2A2_chr11_62265158_62278160	62277941	TCTCGCTC others(64): Show TCTCGCTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTG GACTGTACTGCTGCCATCTCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp1 others(44): Show HG00099.hp2 HG00140.hp2 HG00597.hp1 HG00639.hp1 HG00741.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02083.hp2 HG02293.hp2 HG02559.hp2 HG03195.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18949.hp1 NA18951.hp1 NA18956.hp1 NA18956.hp2 NA18968.hp2 NA18990.hp1 NA18991.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0070	47	390	0.1205	-71	c.49 others(82): Show c.4947_*5017delCTCGCTCTCCCTCTCCCCACGGTCTCCCTCTCAT GCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4782		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289783	TCCCCCGT others(64): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03942.hp1 NA18747.hp1 HG00621.hp2 HG03942.hp1 NA18747.hp1	a0002 a0023 a0002 a0023	a0002c0002 a0023c0045 a0002c0002 a0023c0045	a0002c0002t0001 a0023c0045t0001 a0002c0002t0001 a0023c0045t0001	a0002c0002t0001g0031 a0002c0002t0001g0085 a0023c0045t0001g0164 a0002c0002t0001g0031 a0002c0002t0001g0085 a0023c0045t0001g0164	3	290	0.0103	-71	c.166 others(88): Show c.1663-484_1663-414delCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3BP4_chr2_234947017_235060714	235038280	ATTATATA others(64): Show ATTATATATAATATATATATTATATATATATATTATATATTATATATATA TTATATATAGTATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0010 a0002c0017t0010	a0002c0017t0010g0338 a0002c0017t0010g0338	1	348	0.0029	-71	c.119 others(88): Show c.119-2607_119-2537delTTATATATAATATATATATTATATATAT ATATTATATATTATATATATATTATATATAGTATATATATTTT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5			chr2	TogoVar
SIGIRR_chr11_400716_419999	411322	GTGCCCAG others(64): Show GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTG ACCATGTCTGGATACAGTCGGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02257.hp2 HG03492.hp1 HG01069.hp2 HG02257.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0233 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0233	3	242	0.0124	-71	c.-15 others(90): Show c.-153-1366_-153-1296delGCCGACTGTATCCAGACATGGTCAGA GCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCA	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIRT5_chr6_13569601_13620158	13617629	TGATGAGA others(64): Show TGATGAGAGCTCCTGAGTAGAAATTGAGGGTGTTGGTAATGAAAGGGGGT GTCTTACTTGTAAAGGCAAATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	394	0.0025	-71	c.57 others(82): Show c.5765_*5835delGATGAGAGCTCCTGAGTAGAAATTGAGGGTGTTG GTAATGAAAGGGGGTGTCTTACTTGTAAAGGCAAATG	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding		2472		chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1070277	GAGCCCCC others(64): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0064 a0001c0009t0006g0064	1	118	0.0085	-71	c.224 others(90): Show c.2241+3285_2241+3355delGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070402	CCCCCAGC others(64): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19055.hp2 NA18522.hp1 NA19055.hp2	a0001 a0001	a0001c0007 a0001c0013 a0001c0007 a0001c0013	a0001c0007t0006 a0001c0013t0007 a0001c0007t0006 a0001c0013t0007	a0001c0007t0006g0023 a0001c0013t0007g0101 a0001c0007t0006g0023 a0001c0013t0007g0101	2	118	0.0170	-71	c.224 others(90): Show c.2241+3160_2241+3230delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071003	CCCCCAGC others(64): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0060 a0002c0024t0002g0060	1	118	0.0085	-71	c.224 others(90): Show c.2241+2559_2241+2629delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071125	CCCCCAGC others(64): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	118	0.0085	-71	c.224 others(90): Show c.2241+2437_2241+2507delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071163	GAGCCCCC others(64): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0015 a0001c0007t0006g0015	1	118	0.0085	-71	c.224 others(90): Show c.2241+2399_2241+2469delGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071338	GAGCCCCC others(64): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	118	0.0085	-71	c.224 others(90): Show c.2241+2224_2241+2294delGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071382	CCCCCAGC others(64): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG02698.hp2 others(2): Show HG00733.hp1 HG01106.hp1 HG02698.hp2 NA18954.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0004 others(1): Show a0001c0001 a0001c0013 a0002c0004 a0002c0024	a0001c0001t0001 a0001c0013t0003 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0013t0003 a0002c0004t0001 a0002c0004t0022 a0002c0024t0002	a0001c0001t0001g0094 a0001c0013t0003g0046 a0002c0004t0001g0041 others(2): Show a0001c0001t0001g0094 a0001c0013t0003g0046 a0002c0004t0001g0041 a0002c0004t0022g0087 a0002c0024t0002g0060	5	118	0.0424	-71	c.224 others(90): Show c.2241+2180_2241+2250delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071464	CCCCCAGC others(64): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	118	0.0085	-71	c.224 others(90): Show c.2241+2098_2241+2168delCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071712	CCCCCAGC others(64): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp1 HG02055.hp2 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0013 a0001c0006t0021 a0001c0005t0013 a0001c0006t0021	a0001c0005t0013g0077 a0001c0006t0021g0104 a0001c0005t0013g0077 a0001c0006t0021g0104	2	118	0.0170	-71	c.224 others(90): Show c.2241+1850_2241+1920delCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A9_chr10_59645764_59714850	59681741	GATGTATA others(64): Show GATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTATA TGTATATGTATATGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(58): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01515.hp2 HG01928.hp2 HG02027.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp2 NA18974.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19003.hp2 NA19060.hp1 NA19074.hp2 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0017 others(7): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044	a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 others(58): Show a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0260 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0311 a0001c0001t0014g0075 a0001c0001t0014g0078 a0001c0001t0014g0081 a0001c0001t0014g0099 a0001c0001t0014g0261 a0001c0001t0017g0008 a0001c0001t0017g0014 a0001c0001t0017g0027 a0001c0001t0018g0065 a0001c0001t0018g0066 a0001c0001t0018g0067 a0001c0001t0021g0243 a0001c0001t0024g0079 a0001c0001t0024g0132 a0001c0001t0031g0046 a0001c0001t0041g0111 a0001c0001t0042g0090 a0001c0001t0044g0328	61	352	0.1733	-71	c.196 others(88): Show c.196+2284_196+2354delTACATATACATATACATATACATATACA TCATATACATATACATATACATCATATACATATACATATACAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC26A11_chr17_80215427_80258500	80257613	GAGGCCCG others(64): Show GAGGCCCGTCAGAACCACAGAAACAAGACCAGGTGCCGGGTGGGCACAGT TAGTGGAGGCATCCTCAGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(88): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18952.hp1 NA18953.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18987.hp1 NA18988.hp2 NA19000.hp2 NA19001.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0009 a0012 a0015	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0005 a0003c0006 a0005c0008 a0009c0023 a0012c0020 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0018 a0001c0004t0007 a0001c0012t0008 a0002c0005t0008 a0002c0005t0011 a0003c0006t0006 a0005c0008t0001 a0009c0023t0003 a0012c0020t0003 a0015c0018t0004	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0026 others(78): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0129 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0253 a0001c0001t0002g0017 a0001c0001t0002g0065 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0003g0020 a0001c0001t0003g0172 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0004g0043 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0005g0061 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0007g0265 a0001c0001t0010g0260 a0001c0001t0010g0263 a0001c0001t0015g0108 a0001c0001t0016g0080 a0001c0001t0019g0256 a0001c0001t0021g0250 a0001c0002t0001g0002 a0001c0002t0001g0133 a0001c0002t0001g0197 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0002t0018g0132 a0001c0004t0007g0034 a0001c0004t0007g0269 a0001c0004t0007g0271 a0001c0004t0007g0277 a0001c0012t0008g0248 a0002c0005t0008g0037 a0002c0005t0008g0038 a0002c0005t0008g0039 a0002c0005t0008g0040 a0002c0005t0008g0125 a0002c0005t0011g0300 a0002c0005t0011g0301 a0003c0006t0006g0292 a0005c0008t0001g0027 a0005c0008t0001g0200 a0005c0008t0001g0227 a0009c0023t0003g0275 a0012c0020t0003g0268 a0015c0018t0004g0041	91	366	0.2486	-71	c.48 others(82): Show c.4898_*4968delAGGCCCGTCAGAACCACAGAAACAAGACCAGGTG CCGGGTGGGCACAGTTAGTGGAGGCATCCTCAGCAGA	SLC26A11	ENSG00000181045.15	transcript	ENST00000361193.8	protein_coding		4114		chr17	TogoVar
SLC28A1_chr15_84879662_84950798	84928557	TCTTTCTT others(64): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp2 HG03516.hp2 HG02647.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0012 a0001c0021 a0001c0012 a0001c0021	a0001c0012t0001 a0001c0021t0001 a0001c0012t0001 a0001c0021t0001	a0001c0012t0001g0037 a0001c0012t0001g0040 a0001c0021t0001g0259 a0001c0012t0001g0037 a0001c0012t0001g0040 a0001c0021t0001g0259	3	396	0.0076	-71	c.108 others(90): Show c.1083+4448_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC2A8_chr9_127392169_127412898	127409232	AGACGATG others(64): Show AGACGATGGGGAGGTAGGGGGAGATGATGGGGAGGTGGGGGAGACGATAG GGAGGTGGGGGAGACGATGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	418	0.0024	-71	c.19 others(82): Show c.1984_*2054delGACGATGGGGAGGTAGGGGGAGATGATGGGGAGG TGGGGGAGACGATAGGGAGGTGGGGGAGACGATGGGG	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1335		chr9	TogoVar
SLC35F3_chr1_233899676_234329511	234108225	TATATATA others(64): Show TATATATATTTATATATATAAAAGATATATATATTTATATATATAAAAGA TATATATTATTTATATATAAAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	158	0.0063	-71	c.284 others(92): Show c.284-123160_284-123090delATTTATATATATAAAAGATATATA TTATTTATATATAAAGATATATATTTATATATATAAAAGATATATAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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