Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EML5_chr14_88607431_88797953	88796608	GTTATACA others(48): Show GTTATACATATTATATGTTATATGTTATATATATTATATATGTTATATGT TATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01099.hp2 others(6): Show HG00323.hp1 HG00733.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01358.hp1 HG02027.hp2 HG03492.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0021 a0002c0002t0038 a0002c0002t0001 a0002c0002t0021 a0002c0002t0038	a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0243 others(6): Show a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0260 a0002c0002t0001g0270 a0002c0002t0021g0292 a0002c0002t0038g0297	9	332	0.0271	-55	c.-41 others(66): Show c.-4160_-4106delTATATAACATATAACATATATAATATATATAACA TATAACATATAATATGTATAA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3656		chr14	TogoVar
ENOSF1_chr18_665318_717630	667562	TGGTGATG others(48): Show TGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGTGATG GAGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	418	0.0024	-55	c.66 others(66): Show c.6688_*6742delCATCTCCATCACCATCACCATCACCATCACCATC ACCATCACCATCTCCATCACC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2755		chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5449205	AGATAGCA others(48): Show AGATAGCAAATAAGCGTATGAAAAGATGTTCCAAATCAAACATCATTAGA GAACTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	222	0.0045	-55	c.382 others(72): Show c.382-4016_382-3962delCAGTTCTCTAATGATGTTTGATTTGGAA CATCTTTTCATACGCTTATTTGCTATC		EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	3/22						chr18	TogoVar
EPHA8_chr1_22558489_22608595	22600159	AGGGAGGC others(48): Show AGGGAGGCAGGAAGGAAGGAAAGAAGGAGGGAAGGAAAGGAGGGAGGGAG GAAGGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(5): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG01074.hp1 HG01169.hp2 HG01515.hp2 HG03453.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0005 a0001c0001t0002 a0001c0006t0005	a0001c0001t0002g0098 a0001c0006t0005g0207 a0001c0006t0005g0212 others(5): Show a0001c0001t0002g0098 a0001c0006t0005g0207 a0001c0006t0005g0212 a0001c0006t0005g0282 a0001c0006t0005g0283 a0001c0006t0005g0284 a0001c0006t0005g0285 a0001c0006t0005g0286	8	342	0.0234	-55	c.238 others(72): Show c.2389-495_2389-441delCAGGAAGGAAGGAAAGAAGGAGGGAAGG AAAGGAGGGAGGGAGGAAGGTGGGAGG		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPS8L3_chr1_109745080_109768923	109757952	TCCTTGTT others(48): Show TCCTTGTTTTTTTTCCCAAATTTCTTCTTCCTGCTGGTCTTTGCCTGGGC CTTCTC	T T	frameshift_variant frameshift_variant	HIGH	HG02698.hp1 HG02698.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0160 a0017c0023t0001g0160	1	426	0.0024	-55	c.769 others(62): Show c.769_823delGAGAAGGCCCAGGCAAAGACCAGCAGGAAGAAGAAATT TGGGAAAAAAAACAAGG	p.Glu others(5): Show p.Glu257fs	EPS8L3	ENSG00000198758.11	transcript	ENST00000361965.9	protein_coding	9/19	949/2219	769/1782	257/593			chr1	TogoVar
ERCC3_chr2_127252290_127299144	127292369	GTGGCCTC others(48): Show GTGGCCTCACCCAGAACACAATGCTGGATCCAGAGTGTAGCGGCTCATGA GAAGCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02818.hp1 others(4): Show HG01243.hp2 HG02630.hp1 HG02818.hp1 HG03139.hp2 HG03209.hp1 NA19043.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0002 a0001c0001t0001 a0001c0001t0002 a0004c0006t0002	a0001c0001t0001g0228 a0001c0001t0002g0043 a0001c0001t0002g0262 others(3): Show a0001c0001t0001g0228 a0001c0001t0002g0043 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0004c0006t0002g0261	7	350	0.0200	-55	c.471 others(70): Show c.471+186_471+240delTGCTTCTCATGAGCCGCTACACTCTGGATC CAGCATTGTGTTCTGGGTGAGGCCA		ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding	3/14						chr2	TogoVar
ERICH1_chr8_659200_736224	675101	AGTGAGGA others(48): Show AGTGAGGACAGAGACGTGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	378	0.0027	-55	c.305 others(72): Show c.305-1109_305-1055delGAGGGGCCGCCGCGTCTCTGTCCTCGCC GAGGGGCCGCCACGTCTCTGTCCTCAC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675185	TGAGGACA others(48): Show TGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	378	0.0027	-55	c.305 others(72): Show c.305-1193_305-1139delGCCGAGGGGCCGCCGCGTCTCTGTCCTC ACGAGGGGGCGCCGCGTCTCTGTCCTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675734	TGAGGACA others(48): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0237 a0002c0005t0001g0237	1	378	0.0027	-55	c.305 others(72): Show c.305-1742_305-1688delGCCGAGGGGCCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675808	CCCCCTCG others(48): Show CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	378	0.0027	-55	c.305 others(72): Show c.305-1816_305-1762delCCGCCGCGCCTCTGTCCTCACGAGGGGC CGCCGCGTCTCTGTCCTCGCCGAGGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675953	TGAGGACA others(48): Show TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0326 a0008c0016t0002g0326	1	378	0.0027	-55	c.305 others(72): Show c.305-1961_305-1907delGCCGGGGGGGCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGCCTCTGTCCTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676108	GCCCCTCG others(48): Show GCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACG CGGCGC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	378	0.0027	-55	c.305 others(72): Show c.305-2116_305-2062delGCGCCGCGTCTCTGTCCTCGCCGAGGGG GCGCCGCGTCTCTGTCCTCACGAGGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676310	CGAGGACA others(48): Show CGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp2 others(5): Show HG00423.hp2 HG00544.hp1 HG00597.hp2 HG02132.hp1 HG02165.hp2 NA19004.hp1 NA19005.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0154 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0002t0002g0328	8	378	0.0212	-55	c.305 others(72): Show c.305-2318_305-2264delACGAGGGGCCGCCGCGTCTCTGTCCTCG CCGAGGGGCCGCCGCGTCTCTGTCCTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676365	TGAGGACA others(48): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(103): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01243.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0011 a0012	a0001c0001 a0001c0002 a0003c0004 others(4): Show a0001c0001 a0001c0002 a0003c0004 a0004c0006 a0006c0008 a0011c0010 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0003c0004t0002 a0004c0006t0002 a0006c0008t0001 a0011c0010t0002 a0012c0017t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0020 others(101): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0254 a0001c0001t0002g0349 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0358 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0365 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0106 a0001c0002t0001g0114 a0001c0002t0001g0144 a0001c0002t0002g0270 a0001c0002t0002g0298 a0001c0002t0002g0324 a0001c0002t0002g0327 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0350 a0001c0002t0005g0243 a0003c0004t0002g0323 a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325 a0006c0008t0001g0131 a0006c0008t0001g0179 a0011c0010t0002g0356 a0012c0017t0002g0366	106	378	0.2804	-55	c.305 others(72): Show c.305-2373_305-2319delGCCGAGGGGGCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	695492	TCTCCTCT others(48): Show TCTCCTCTCCTTCCTCCCCATCAGCCTGCACCTGTGCTTGCTCCTCTCGC CCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01168.hp1 others(7): Show HG00423.hp1 HG01069.hp1 HG01168.hp1 HG01169.hp1 HG03669.hp1 HG03942.hp1 HG04228.hp1 NA18964.hp1 NA18977.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205 others(7): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205 a0001c0001t0002g0244 a0001c0001t0002g0257 a0001c0001t0002g0266 a0001c0001t0002g0276 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289	10	378	0.0265	-55	c.170 others(72): Show c.170-2935_170-2881delTGGAGGGCGAGAGGAGCAAGCACAGGTG CAGGCTGATGGGGAGGAAGGAGAGGAG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	695585	GGCTCCTC others(48): Show GGCTCCTCTCGCCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCACCT GTGCTT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	378	0.0027	-55	c.170 others(72): Show c.170-3028_170-2974delAAGCACAGGTGCAGGCTGATGGGGAGGA AGGAGAGGAGTGGAGGGCGAGAGGAGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073490	ATATATAT others(48): Show ATATATATATATATATATATATATATGTATATATATATATATATATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp1 HG01978.hp2 others(7): Show HG00621.hp2 HG01169.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp1 HG02293.hp1 HG02738.hp1 HG03017.hp1 NA18978.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0001g0312 a0001c0001t0001g0331 others(7): Show a0001c0001t0001g0135 a0001c0001t0001g0312 a0001c0001t0001g0331 a0001c0001t0001g0339 a0001c0001t0001g0398 a0001c0001t0001g0403 a0001c0001t0001g0404 a0001c0001t0002g0336 a0001c0001t0002g0384 a0001c0001t0002g0386	10	442	0.0226	-55	c.58+ others(70): Show c.58+8764_58+8818delTATATATATATATATATATATATATGTATA TATATATATATATATATATATATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2						chr8	TogoVar
EXOC2_chr6_480154_698139	675541	GACTCTGA others(48): Show GACTCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGCCTCCT CTGGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(40): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01106.hp1 HG02040.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03704.hp1 HG03834.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18962.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA19012.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0003t0005 a0003c0006t0004 a0004c0009t0002	a0001c0001t0001g0007 a0001c0001t0001g0237 a0001c0001t0001g0239 others(40): Show a0001c0001t0001g0007 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0002g0146 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0004g0002 a0001c0001t0004g0145 a0001c0001t0004g0251 a0001c0001t0005g0195 a0001c0001t0005g0256 a0001c0001t0006g0255 a0001c0001t0007g0001 a0001c0001t0008g0147 a0001c0001t0010g0144 a0001c0002t0001g0114 a0001c0002t0001g0253 a0001c0002t0002g0231 a0001c0002t0004g0113 a0001c0002t0004g0250 a0001c0002t0010g0248 a0001c0003t0005g0230 a0003c0006t0004g0236 a0003c0006t0004g0242 a0003c0006t0004g0243 a0003c0006t0004g0254 a0004c0009t0002g0194	43	272	0.1581	-55	c.-44 others(74): Show c.-44+17423_-44+17477delTGCCAGAGGAGGCTGTCCTTTCCGTA ATGTTGAAGAGTATGGGGAACCTCAGAGT		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
EXOC2_chr6_480154_698139	676290	AGACTCTG others(48): Show AGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCC TCTGGT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	272	0.0037	-55	c.-44 others(74): Show c.-44+16674_-44+16728delACCAGAGGAACCTGTCCTTTCCGTAA TGTTGAAGAGTATGGGGAACCGCAGAGTC		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
EXOC2_chr6_480154_698139	676895	ACTGCGGT others(48): Show ACTGCGGTTCCCCATACTCTTCAACATTACAGAAAGGACAGGTTCCTCTG AAGACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02818.hp1 others(7): Show HG02257.hp2 HG02615.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0003t0005	a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 others(7): Show a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0007g0001 a0001c0002t0002g0231 a0001c0003t0005g0230	10	272	0.0368	-55	c.-44 others(74): Show c.-44+16069_-44+16123delAGTCTTCAGAGGAACCTGTCCTTTCT GTAATGTTGAAGAGTATGGGGAACCGCAG		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
FAM174B_chr15_92612448_92660775	92631196	TATATTAC others(48): Show TATATTACATATATTATATATTATATTATATATAATATATTATATATTAT ATTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01071.hp2 others(2): Show HG00099.hp1 HG00544.hp2 HG01071.hp2 HG02683.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020	a0001c0001t0007g0348 a0001c0001t0016g0341 a0001c0001t0016g0351 others(2): Show a0001c0001t0007g0348 a0001c0001t0016g0341 a0001c0001t0016g0351 a0001c0001t0016g0352 a0001c0001t0020g0345	5	394	0.0127	-55	c.345 others(70): Show c.345-906_345-852delTATAATATAATATATAATATATTATATATA ATATAATATATAATATATGTAATAT		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM227B_chr15_49321970_49625818	49489805	ATATATAT others(48): Show ATATATATATATATATTTTATATATATATATATATTTTATATATATATAT ATATTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0279 a0001c0002t0007g0279	1	294	0.0034	-55	c.101 others(76): Show c.1012+18351_1012+18405delAAATATATATATATATATAAAATA TATATATATATATAAAATATATATATATATA		FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15						chr15	TogoVar
FAM53A_chr4_1634887_1689313	1672161	CCCAGGAA others(48): Show CCCAGGAACCCAAGAACCCACGGACCCACGGACCCAGGAACCAGGAACCC ACAGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(57): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02080.hp2 HG02132.hp1 HG02257.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18950.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA19009.hp2 NA19010.hp2 NA19080.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0009	a0001c0002 a0001c0017 a0004c0007 others(3): Show a0001c0002 a0001c0017 a0004c0007 a0005c0006 a0008c0016 a0009c0018	a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 others(14): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0002t0017 a0001c0002t0032 a0001c0002t0036 a0001c0002t0041 a0001c0002t0049 a0001c0002t0050 a0001c0002t0059 a0001c0002t0060 a0001c0017t0004 a0004c0007t0003 a0005c0006t0038 a0005c0006t0061 a0008c0016t0003 a0009c0018t0004	a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 others(56): Show a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0208 a0001c0002t0003g0267 a0001c0002t0003g0271 a0001c0002t0003g0330 a0001c0002t0003g0333 a0001c0002t0003g0335 a0001c0002t0004g0140 a0001c0002t0004g0144 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0207 a0001c0002t0004g0266 a0001c0002t0004g0282 a0001c0002t0004g0302 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0004g0306 a0001c0002t0004g0308 a0001c0002t0004g0309 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0317 a0001c0002t0004g0326 a0001c0002t0015g0015 a0001c0002t0015g0016 a0001c0002t0015g0050 a0001c0002t0015g0058 a0001c0002t0015g0059 a0001c0002t0017g0003 a0001c0002t0017g0069 a0001c0002t0017g0096 a0001c0002t0017g0126 a0001c0002t0032g0017 a0001c0002t0036g0054 a0001c0002t0041g0066 a0001c0002t0049g0332 a0001c0002t0050g0274 a0001c0002t0059g0307 a0001c0002t0060g0324 a0001c0017t0004g0162 a0004c0007t0003g0331 a0004c0007t0003g0334 a0005c0006t0038g0011 a0005c0006t0061g0142 a0008c0016t0003g0196 a0009c0018t0004g0322	60	350	0.1714	-55	c.-16 others(74): Show c.-164-3311_-164-3257delATCTGTGGGTTCCTGGTTCCTGGGTC CGTGGGTCCGTGGGTTCTTGGGTTCCTGG		FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4						chr4	TogoVar
FAM9B_chrX_9019232_9039127	9021238	TTATATAA others(48): Show TTATATAATATATATATTATATATATAATATATAATATATTATATTATAT ATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	-55	c.41 others(66): Show c.4116_*4170delTTATATATATAATATAATATATTATATATTATAT ATATAATATATATATTATATA		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					2993		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9021291	TAATATAT others(48): Show TAATATATAATATATTATATTATATATATTATATATAATATATTATATTA TATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0038 a0001c0001t0012g0038	1	258	0.0039	-55	c.40 others(66): Show c.4063_*4117delTATATATAATATAATATATTATATATAATATATA TAATATAATATATTATATATT		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					2940		chrX	TogoVar
FANCA_chr16_89732549_89821647	89755831	CCCCGCAC others(48): Show CCCCGCACACCTAGGCCACACGGCACGGCCCACCGCACAGACACAGACCG GAGCCG	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0182 a0005c0005t0001g0182	1	334	0.0030	-55	c.298 others(74): Show c.2981+2691_2981+2745delCGGCTCCGGTCTGTGTCTGTGCGGTG GGCCGTGCCGTGTGGCCTAGGTGTGCGGG		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	30/42						chr16	TogoVar
FCN1_chr9_134898232_134922912	134915145	GACCAGGT others(48): Show GACCAGGTTCTGGAACAAAGAATGCGTCCTCAGAGAGCCTCATCCTACCA CGTCCC	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0009 a0006c0009t0009	a0006c0009t0009g0145 a0006c0009t0009g0145	1	434	0.0023	-55	c.218 others(70): Show c.218-391_218-337delGGGACGTGGTAGGATGAGGCTCTCTGAGGA CGCATTCTTTGTTCCAGAACCTGGT		FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	2/8						chr9	TogoVar
FGF14_chr13_101705804_101921945	101850472	ATATATAT others(48): Show ATATATATATATATATATATATATATATATATATATATATATAGAATTAT ATATTC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0163 a0001c0001t0106g0163	1	266	0.0038	-55	c.408 others(74): Show c.408+18198_408+18252delGAATATATAATTCTATATATATATAT ATATATATATATATATATATATATATATA		FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4						chr13	TogoVar
FGF2_chr4_122821831_122903236	122863948	GTTCTTTA others(48): Show GTTCTTTACTCGAAGTCAATTGTTGAAACAGGCCTGCAACATTTTCAAGA ATAATC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp1 HG02280.hp2 others(3): Show HG01192.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0022 a0001c0002t0022 a0001c0001t0013 a0001c0001t0022 a0001c0002t0022	a0001c0001t0013g0243 a0001c0001t0013g0244 a0001c0001t0013g0245 others(3): Show a0001c0001t0013g0243 a0001c0001t0013g0244 a0001c0001t0013g0245 a0001c0001t0013g0246 a0001c0001t0022g0236 a0001c0002t0022g0016	6	256	0.0234	-55	c.179 others(74): Show c.179-12363_179-12309delCGAAGTCAATTGTTGAAACAGGCCTG CAACATTTTCAAGAATAATCTTCTTTACT		FGF2	ENSG00000138685.18	transcript	ENST00000644866.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
FGF7_chr15_49418242_49493775	49489805	ATATATAT others(48): Show ATATATATATATATATTTTATATATATATATATATTTTATATATATATAT ATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0067 a0001c0001t0013g0067	1	358	0.0028	-55	c.53 others(66): Show c.5302_*5356delTATATATATATATATTTTATATATATATATATAT TTTATATATATATATATATTT		FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding					1031		chr15	TogoVar
FIRRM_chr1_169790040_169859080	169850990	TTTTTTTT others(48): Show TTTTTTTTTTTTTTTTTATTTGGGCAGCCTCCCAAGCCAGGGTAAGCTCA GGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0155 a0003c0004t0003g0155	1	420	0.0024	-55	c.224 others(72): Show c.2244+662_2244+716delATTTGGGCAGCCTCCCAAGCCAGGGTAA GCTCAGGGCCCTTTTTTTTTTTTTTTT		FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	23/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXN3_chr14_89151177_89422233	89361426	CCACCACC others(48): Show CCACCACCTCCTACCACTACCACCTCCAGCACCACCTCCACCACCACCAC CTCCAG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0189 a0001c0001t0014g0189	1	230	0.0044	-55	c.544 others(74): Show c.544-10673_544-10619delCTGGAGGTGGTGGTGGTGGAGGTGGT GCTGGAGGTGGTAGTGGTAGGAGGTGGTG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FRAS1_chr4_78052323_78549269	78344004	TTGATCAC others(48): Show TTGATCACCAAATCCTACCCATCCATCCCTCAATGCCTGGTTCAGATTCC TTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG01109.hp1 others(35): Show HG00438.hp2 HG00735.hp2 HG01109.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03942.hp1 HG04115.hp2 NA18960.hp1 NA18971.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0008 a0010 a0015 others(28): Show a0008 a0010 a0015 a0018 a0022 a0025 a0029 a0030 a0031 a0044 a0047 a0051 a0056 a0059 a0061 a0062 a0069 a0074 a0081 a0085 a0086 a0087 a0091 a0092 a0094 a0097 a0098 a0099 a0100 a0101 a0102	a0008c0006 a0010c0070 a0010c0071 others(30): Show a0008c0006 a0010c0070 a0010c0071 a0010c0073 a0015c0007 a0018c0095 a0022c0022 a0025c0011 a0029c0032 a0030c0030 a0031c0031 a0044c0047 a0047c0057 a0051c0062 a0056c0025 a0059c0076 a0061c0083 a0062c0082 a0069c0105 a0074c0100 a0081c0109 a0085c0112 a0086c0110 a0087c0111 a0091c0120 a0092c0121 a0094c0122 a0097c0067 a0098c0068 a0099c0069 a0100c0072 a0101c0074 a0102c0075	a0008c0006t0004 a0008c0006t0042 a0010c0070t0001 others(31): Show a0008c0006t0004 a0008c0006t0042 a0010c0070t0001 a0010c0071t0001 a0010c0073t0001 a0015c0007t0023 a0018c0095t0036 a0022c0022t0018 a0025c0011t0004 a0029c0032t0005 a0030c0030t0002 a0031c0031t0002 a0044c0047t0002 a0047c0057t0053 a0051c0062t0015 a0056c0025t0001 a0059c0076t0015 a0061c0083t0041 a0062c0082t0017 a0069c0105t0012 a0074c0100t0012 a0081c0109t0006 a0085c0112t0001 a0086c0110t0004 a0087c0111t0024 a0091c0120t0039 a0092c0121t0012 a0094c0122t0008 a0097c0067t0013 a0098c0068t0013 a0099c0069t0008 a0100c0072t0010 a0101c0074t0044 a0102c0075t0021	a0008c0006t0004g0171 a0008c0006t0004g0172 a0008c0006t0004g0174 others(35): Show a0008c0006t0004g0171 a0008c0006t0004g0172 a0008c0006t0004g0174 a0008c0006t0042g0109 a0010c0070t0001g0084 a0010c0071t0001g0003 a0010c0073t0001g0091 a0015c0007t0023g0064 a0015c0007t0023g0065 a0018c0095t0036g0116 a0022c0022t0018g0093 a0022c0022t0018g0102 a0025c0011t0004g0176 a0029c0032t0005g0038 a0030c0030t0002g0029 a0031c0031t0002g0041 a0044c0047t0002g0036 a0047c0057t0053g0066 a0051c0062t0015g0045 a0056c0025t0001g0015 a0059c0076t0015g0107 a0061c0083t0041g0112 a0062c0082t0017g0100 a0069c0105t0012g0158 a0074c0100t0012g0160 a0081c0109t0006g0083 a0085c0112t0001g0098 a0086c0110t0004g0173 a0087c0111t0024g0129 a0091c0120t0039g0096 a0092c0121t0012g0154 a0094c0122t0008g0081 a0097c0067t0013g0155 a0098c0068t0013g0165 a0099c0069t0008g0101 a0100c0072t0010g0144 a0101c0074t0044g0117 a0102c0075t0021g0134	38	178	0.2135	-55	c.242 others(74): Show c.2422+6244_2422+6298delGATCACCAAATCCTACCCATCCATCC CTCAATGCCTGGTTCAGATTCCTTCCCCT		FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	20/73					INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM2_chr13_38682077_38892131	38813464	TTCTCTCT others(48): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18963.hp2 HG02129.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0004 a0002c0010t0004 a0001c0002t0004 a0002c0010t0004	a0001c0002t0004g0169 a0002c0010t0004g0034 a0001c0002t0004g0169 a0002c0010t0004g0034	2	262	0.0076	-55	c.601 others(76): Show c.6019+28702_6019+28756delCTCTCTCTCCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813512	CTCTCTCC others(48): Show CTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTATA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02071.hp1 HG02071.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0172 a0003c0003t0004g0069 a0001c0001t0001g0172 a0003c0003t0004g0069	2	262	0.0076	-55	c.601 others(76): Show c.6019+28706_6019+28760delCTCTCCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTATAT		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813516	CTCCTCTC others(48): Show CTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA TATATA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0022 a0022	a0022c0043 a0022c0043	a0022c0043t0012 a0022c0043t0012	a0022c0043t0012g0234 a0022c0043t0012g0234	1	262	0.0038	-55	c.601 others(76): Show c.6019+28710_6019+28764delCCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTATATATAT		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
FRG2_chr4_190019367_190032256	190031395	GAGGCTGA others(48): Show GAGGCTGATTTAAACCATTCATTTCAGGAAACCATTTGCCACTAGTTCAC CAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-55	c.-42 others(66): Show c.-4246_-4192delTTTCTGGTGAACTAGTGGCAAATGGTTTCCTGAA ATGAATGGTTTAAATCAGCCT		FRG2	ENSG00000205097.7	transcript	ENST00000504750.6	protein_coding					4140		chr4	TogoVar
FSHR_chr2_48957157_49159515	49127843	TCTTCTTC others(48): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	350	0.0029	-55	c.152 others(74): Show c.152+26368_152+26422delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAG		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49127844	CTTCTTCT others(48): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0157 a0003c0003t0003g0157	1	350	0.0029	-55	c.152 others(74): Show c.152+26367_152+26421delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
GATA5_chr20_62458497_62480995	62477166	CTCGGAGC others(48): Show CTCGGAGCACACCGGGTGGACCCAGGCGTGGTGGCCATGAAAGTTCTTTT TTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02258.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0221 a0001c0002t0003g0016 a0001c0002t0003g0221	2	382	0.0052	-55	c.-13 others(66): Show c.-1313_-1259delAAAGAAAAAAGAACTTTCATGGCCACCACGCCTG GGTCCACCCGGTGTGCTCCGA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1172		chr20	TogoVar
GCH1_chr14_54837017_54907826	54880431	CATATATA others(48): Show CATATATATATATACTCCATATAAATATATACTCCATATATATATATACA CTCCAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03669.hp2 HG03942.hp2 others(1): Show HG03209.hp1 HG03669.hp2 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0031 others(1): Show a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0022g0030	4	346	0.0116	-55	c.344 others(74): Show c.344-15050_344-14996delATGGAGTGTATATATATATATGGAGT ATATATTTATATGGAGTATATATATATAT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5						chr14	TogoVar
GGT1_chr22_24598193_24633996	24605560	AATATTAT others(48): Show AATATTATATAATGTGTATTATATATATAATATTATATAATGTGTATTAT ATATAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0414 a0001c0001t0009g0414	1	426	0.0024	-55	c.-42 others(74): Show c.-429+2035_-429+2089delTATTATATAATGTGTATTATATATAT AATATTATATAATGTGTATTATATATATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605584	ATATAATA others(48): Show ATATAATATTATATAATGTGTATTATATATATAATATTATATAATGTGTA TTATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0281	1	426	0.0024	-55	c.-42 others(74): Show c.-429+2058_-429+2112delTATAATATTATATAATGTGTATTATA TATATAATATTATATAATGTGTATTATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GHR_chr5_42418439_42726878	42579108	TAGATAGA others(48): Show TAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAGATATAGAT AGATAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01257.hp2 HG01258.hp2 others(4): Show HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG03688.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0086 others(4): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0086 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0193 a0001c0001t0028g0108	7	210	0.0333	-55	c.70+ others(72): Show c.70+13166_70+13220delGATAGATAGATAGATAGATAGATAGATA GATGATAGATAGATATAGATAGATAGA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GLIS3_chr9_3819127_4305068	4276351	CGGGAGGG others(48): Show CGGGAGGGAAGGAGAGGGCACGGGAGGGGAGGTGAGGGGAGGGAAGGGAA GGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0070 a0001c0001t0055g0070	1	188	0.0053	-55	c.388 others(72): Show c.388+9632_388+9686delCTCCCCTTCCCTTCCCTCCCCTCACCTC CCCTCCCGTGCCCTCTCCTTCCCTCCC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10						chr9	TogoVar
GLT1D1_chr12_128848478_128989968	128971756	TCCTCCCT others(48): Show TCCTCCCTTCCCCCCTCCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTTCT TTGCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01192.hp1 others(2): Show HG01069.hp1 HG01106.hp2 HG01192.hp1 HG01516.hp2 HG02165.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0002c0003t0004	a0001c0001t0001g0032 a0001c0001t0001g0221 a0001c0001t0006g0001 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0221 a0001c0001t0006g0001 a0001c0002t0001g0120 a0002c0003t0004g0070	5	320	0.0156	-55	c.880 others(74): Show c.880-11162_880-11108delCCCCTCCCTTCCTCCCTCCCTCCTCC CTTCCTCCCTTCTTTGCTCCCTCCCTTCC		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GNA14_chr9_77418079_77653322	77641080	GGGAGGGG others(48): Show GGGAGGGGAGGGGAGGGGGGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0160 a0001c0005t0011g0160	1	240	0.0042	-55	c.124 others(72): Show c.124+6535_124+6589delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCCCCCCTCCCCTCCCCTCC		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GOLGA3_chr12_132763914_132833869	132816659	CCTGGAGA others(48): Show CCTGGAGAGGCATCAGGGCCCACTGGGCTTGTGGTGGGATCGAGAGACGA CGGAGG	C C	frameshift_variant frameshift_variant	HIGH	NA18939.hp2 NA18939.hp2	a0023 a0023	a0023c0040 a0023c0040	a0023c0040t0002 a0023c0040t0002	a0023c0040t0002g0234 a0023c0040t0002g0234	1	308	0.0033	-55	c.232 others(62): Show c.232_286delCCTCCGTCGTCTCTCGATCCCACCACAAGCCCAGTGGG CCCTGATGCCTCTCCAG	p.Pro others(4): Show p.Pro78fs	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	3/24	536/8938	232/4497	78/1498			chr12	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136601	TGGGGATG others(48): Show TGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGG GAGGTG	T T	frameshift_variant frameshift_variant	HIGH	HG02897.hp1 HG02897.hp1	a0068 a0068	a0068c0025 a0068c0025	a0068c0025t0008 a0068c0025t0008	a0068c0025t0008g0048 a0068c0025t0008g0048	1	204	0.0049	-55	c.76_ others(61): Show c.76_130delCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCAC CTCCCTACCCATCCCC	p.His others(4): Show p.His26fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	221/3822	76/2007	26/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136619	TGGGGATG others(48): Show TGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGG GAGGTG	T T	frameshift_variant frameshift_variant	HIGH	NA19002.hp2 NA19002.hp2	a0031 a0031	a0031c0062 a0031c0062	a0031c0062t0001 a0031c0062t0001	a0031c0062t0001g0105 a0031c0062t0001g0105	1	204	0.0049	-55	c.58_ others(61): Show c.58_112delCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCAC CTCCCTACCCATCCCC	p.His others(4): Show p.His20fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	203/3822	58/2007	20/668			chr15	TogoVar

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