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 genename

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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
RDH10_chr8_73289602_73330281	73325952	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01167.hp2 others(17): Show HG00280.hp2 HG00621.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03225.hp1 HG06807.hp2 NA18942.hp2 NA18966.hp2 NA18988.hp1 NA18990.hp1 NA19030.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030	a0001c0001t0001g0051 a0001c0001t0001g0176 a0001c0001t0002g0042 others(12): Show a0001c0001t0001g0051 a0001c0001t0001g0176 a0001c0001t0002g0042 a0001c0001t0002g0147 a0001c0001t0003g0001 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0172 a0001c0001t0003g0177 a0001c0001t0004g0056 a0001c0001t0014g0061 a0001c0001t0019g0055 a0001c0001t0020g0060 a0001c0001t0027g0170 a0001c0001t0030g0207	20	396	0.0505	-12	c.29 others(23): Show c.2917_*2928delGTGTGTGTGTGT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		672		chr8	TogoVar
RDH16_chr12_56946431_56962608	56961331	AAAAGAAC others(5): Show AAAAGAACTAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	-12	c.-38 others(23): Show c.-3881_-3870delCTCTAGTTCTTT	RDH16	ENSG00000139547.8	transcript	ENST00000398138.5	protein_coding		3724		chr12	TogoVar
RDH8_chr19_10008483_10027279	10016124	CTTATTTA others(5): Show CTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00621.hp1 others(84): Show HG00140.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18978.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19043.hp1 NA19058.hp1 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0001 a0003c0004 a0003c0005 others(3): Show a0002c0001 a0003c0004 a0003c0005 a0003c0006 a0003c0007 a0010c0011	a0002c0001t0006 a0003c0004t0001 a0003c0005t0002 others(4): Show a0002c0001t0006 a0003c0004t0001 a0003c0005t0002 a0003c0005t0003 a0003c0006t0001 a0003c0007t0001 a0010c0011t0001	a0002c0001t0006g0115 a0003c0004t0001g0004 a0003c0004t0001g0008 others(30): Show a0002c0001t0006g0115 a0003c0004t0001g0004 a0003c0004t0001g0008 a0003c0004t0001g0012 a0003c0004t0001g0125 a0003c0004t0001g0126 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0137 a0003c0004t0001g0155 a0003c0004t0001g0164 a0003c0004t0001g0171 a0003c0004t0001g0174 a0003c0004t0001g0177 a0003c0005t0002g0005 a0003c0005t0003g0005 a0003c0005t0003g0028 a0003c0005t0003g0119 a0003c0005t0003g0120 a0003c0005t0003g0121 a0003c0005t0003g0122 a0003c0005t0003g0136 a0003c0006t0001g0009 a0003c0006t0001g0012 a0003c0006t0001g0030 a0003c0006t0001g0078 a0003c0006t0001g0093 a0003c0006t0001g0175 a0003c0007t0001g0004 a0003c0007t0001g0012 a0003c0007t0001g0135 a0003c0007t0001g0141 a0010c0011t0001g0012	87	464	0.1875	-12	c.104 others(27): Show c.104-902_104-891delATTTATTTATTT	RDH8	ENSG00000080511.5	transcript	ENST00000591589.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
RDM1_chr17_35913080_35935773	35929086	ATAAAAAG others(5): Show ATAAAAAGTAAAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	355	0.0028	-12	c.276 others(27): Show c.276+978_276+989delATTTACTTTTTA	RDM1	ENSG00000278023.7	transcript	ENST00000620284.5	protein_coding	2/6			chr17	TogoVar
RDX_chr11_110224441_110301614	110267515	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03225.hp1 NA19086.hp2 HG01070.hp1 HG03225.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0037 a0001c0001t0001 a0001c0001t0004 a0001c0001t0037	a0001c0001t0001g0189 a0001c0001t0004g0315 a0001c0001t0037g0086 a0001c0001t0001g0189 a0001c0001t0004g0315 a0001c0001t0037g0086	3	376	0.0080	-12	c.97- others(27): Show c.97-2653_97-2642delGTGTGTGTGTGT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	3/13			chr11	TogoVar
REC114_chr15_73438164_73565013	73447648	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01074.hp2 others(24): Show HG00558.hp1 HG00639.hp2 HG01074.hp2 HG02015.hp1 HG02083.hp2 HG02293.hp2 HG03209.hp2 HG03225.hp1 HG03654.hp2 HG03831.hp1 NA18949.hp2 NA18961.hp1 NA18969.hp1 NA18974.hp2 NA18990.hp1 NA18993.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19068.hp1 NA19078.hp1 NA19079.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0002g0121 others(24): Show a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0159 a0002c0002t0002g0158	27	188	0.1436	-12	c.159 others(29): Show c.159+4334_159+4345delAATAAATAAATA	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
REC114_chr15_73438164_73565013	73461922	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	188	0.0053	-12	c.160 others(31): Show c.160-11895_160-11884delTTTTTTTTTTTT	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36043010	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02965.hp2 others(1): Show HG02559.hp1 HG02818.hp2 HG02965.hp2 HG03195.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0001 a0003c0006t0003	a0003c0006t0001g0387 a0003c0006t0003g0388 a0003c0006t0003g0389 others(1): Show a0003c0006t0001g0387 a0003c0006t0003g0388 a0003c0006t0003g0389 a0003c0006t0003g0390	4	392	0.0102	-12	c.100 others(29): Show c.100+5931_100+5942delTTTTTTTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36048126	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04204.hp2 HG03654.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0309 a0001c0002t0001g0044 a0001c0001t0001g0309 a0001c0002t0001g0044	2	392	0.0051	-12	c.101 others(29): Show c.101-4116_101-4105delATATATATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36073231	GACACACA others(5): Show GACACACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18973.hp1 NA18975.hp1 others(1): Show HG03471.hp2 NA18973.hp1 NA18975.hp1 NA19086.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0007c0009 a0001c0002 a0001c0004 a0007c0009	a0001c0002t0001 a0001c0004t0001 a0007c0009t0001 a0001c0002t0001 a0001c0004t0001 a0007c0009t0001	a0001c0002t0001g0043 a0001c0004t0001g0385 a0001c0004t0001g0386 others(1): Show a0001c0002t0001g0043 a0001c0004t0001g0385 a0001c0004t0001g0386 a0007c0009t0001g0365	4	392	0.0102	-12	c.406 others(29): Show c.406-7364_406-7353delGACACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36089967	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02630.hp1 others(3): Show HG02109.hp2 HG02559.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 a0001c0001t0001 a0001c0001t0008 a0001c0007t0001	a0001c0001t0001g0345 a0001c0001t0001g0356 a0001c0001t0008g0339 others(3): Show a0001c0001t0001g0345 a0001c0001t0001g0356 a0001c0001t0008g0339 a0001c0001t0008g0340 a0001c0001t0008g0341 a0001c0007t0001g0355	6	392	0.0153	-12	c.906 others(29): Show c.906-1171_906-1160delCACACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36099224	TCAACAAC others(5): Show TCAACAACAACAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01975.hp1 HG02155.hp1 others(43): Show HG00621.hp2 HG01975.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA19011.hp2 NA19063.hp2 NA19065.hp1 NA19078.hp2 NA19084.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 others(43): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0206 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0007g0331 a0001c0001t0007g0332 a0001c0001t0007g0333 a0001c0004t0001g0375 a0001c0004t0001g0377 a0001c0004t0001g0378 a0001c0004t0001g0379 a0002c0005t0001g0224	46	392	0.1174	-12	c.108 others(31): Show c.1086-1071_1086-1060delACAACAACAACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36100675	CCCACTTT others(5): Show CCCACTTTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03490.hp2 HG03540.hp1 HG01175.hp1 HG03490.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0167 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0167	3	392	0.0077	-12	c.129 others(29): Show c.1298+135_1298+146delACTTTTTCCTCC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104318	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02622.hp1 HG02922.hp1 HG01257.hp2 HG02622.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0004 a0001c0002t0001 a0001c0007t0001 a0001c0001t0004 a0001c0002t0001 a0001c0007t0001	a0001c0001t0004g0297 a0001c0002t0001g0097 a0001c0007t0001g0346 a0001c0001t0004g0297 a0001c0002t0001g0097 a0001c0007t0001g0346	3	392	0.0077	-12	c.143 others(29): Show c.1436-823_1436-812delATATATATTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104320	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG03225.hp2 HG02109.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0300 a0001c0001t0005g0225 a0001c0001t0005g0295 a0001c0001t0004g0300 a0001c0001t0005g0225 a0001c0001t0005g0295	3	392	0.0077	-12	c.143 others(29): Show c.1436-821_1436-810delATATATTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104324	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG03516.hp1 HG02257.hp2 HG02451.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0001g0016 a0001c0001t0002g0350 a0001c0001t0002g0351	3	392	0.0077	-12	c.143 others(29): Show c.1436-817_1436-806delATTTTTTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104326	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0001 a0001c0002t0009g0001	2	392	0.0051	-12	c.143 others(29): Show c.1436-791_1436-780delTTTTTTTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104898	CACCTAGA others(5): Show CACCTAGAACCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02895.hp1 others(4): Show HG01884.hp2 HG02109.hp1 HG02895.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp2 HG03516.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0004 a0001c0001t0005 a0006c0012t0004 a0001c0001t0004 a0001c0001t0005 a0006c0012t0004	a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 others(4): Show a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0005g0225 a0001c0001t0005g0295 a0001c0001t0005g0296 a0006c0012t0004g0298	7	392	0.0179	-12	c.143 others(29): Show c.1436-244_1436-233delACCTAGAACCTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20			chr9	TogoVar
RECQL5_chr17_75621854_75672154	75647267	CACAGAGG others(5): Show CACAGAGGCTGCT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0170 a0001c0004t0001g0170	1	378	0.0027	-12	c.122 others(31): Show c.1229+3907_1229+3918delAGCAGCCTCTGT	RECQL5	ENSG00000108469.15	transcript	ENST00000317905.10	protein_coding	8/19			chr17	TogoVar
REELD1_chr4_146209538_146237267	146214480	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02132.hp1 NA18970.hp1 others(8): Show HG02074.hp2 HG02132.hp1 NA18970.hp1 NA18982.hp1 NA18988.hp1 NA18990.hp2 NA19000.hp1 NA19011.hp1 NA19012.hp1 NA19065.hp2 NA19079.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0014c0019 a0002c0002 a0014c0019	a0002c0002t0003 a0002c0002t0004 a0014c0019t0001 a0002c0002t0003 a0002c0002t0004 a0014c0019t0001	a0002c0002t0003g0009 a0002c0002t0003g0034 a0002c0002t0003g0058 others(3): Show a0002c0002t0003g0009 a0002c0002t0003g0034 a0002c0002t0003g0058 a0002c0002t0004g0009 a0014c0019t0001g0009 a0014c0019t0001g0033	11	434	0.0254	-12	c.-34 others(21): Show c.-348_-337delTGTGTGTGTGTA	REELD1	ENSG00000250673.3	transcript	ENST00000623665.2	protein_coding		57		chr4	TogoVar
REELD1_chr4_146209538_146237267	146219926	TTTTGTTT others(5): Show TTTTGTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	434	0.0023	-12	c.209 others(29): Show c.209-2407_209-2396delGTTTGTTTTTTT	REELD1	ENSG00000250673.3	transcript	ENST00000623665.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
REEP1_chr2_86208993_86342626	86229598	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp2 NA18962.hp2 HG02895.hp1 HG03041.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0118 a0001c0001t0004g0245 a0001c0001t0023g0019 a0001c0001t0002g0118 a0001c0001t0004g0245 a0001c0001t0023g0019	3	320	0.0094	-12	c.596 others(29): Show c.596-2212_596-2201delAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	6/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86270170	CTTTTGTT others(5): Show CTTTTGTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0217 a0001c0002t0001g0222 a0001c0002t0001g0165 a0001c0002t0001g0217 a0001c0002t0001g0222	3	320	0.0094	-12	c.106 others(29): Show c.106-6141_106-6130delAAACAAACAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	2/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86294723	TTAGATAG others(5): Show TTAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01168.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01168.hp2 HG03239.hp1 HG04115.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0027 a0001c0002t0001 others(2): Show a0001c0001t0016 a0001c0001t0027 a0001c0002t0001 a0001c0002t0040 a0001c0002t0043	a0001c0001t0016g0039 a0001c0001t0016g0040 a0001c0001t0027g0038 others(3): Show a0001c0001t0016g0039 a0001c0001t0016g0040 a0001c0001t0027g0038 a0001c0002t0001g0042 a0001c0002t0040g0231 a0001c0002t0043g0233	6	320	0.0188	-12	c.33- others(29): Show c.33-12493_33-12482delTCTATCTATCTA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86311187	ATTAAAAT others(5): Show ATTAAAATAATTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp2 others(11): Show HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03453.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0022 a0001c0001t0007 a0001c0001t0015 a0001c0001t0022	a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0007 others(11): Show a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0015g0016 a0001c0001t0015g0020 a0001c0001t0022g0058	14	320	0.0438	-12	c.32+ others(29): Show c.32+26280_32+26291delCAATTATTTTAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86330414	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 NA20752.hp2 HG01070.hp2 HG01071.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0027 a0001c0001t0016 a0001c0001t0027	a0001c0001t0016g0039 a0001c0001t0016g0040 a0001c0001t0027g0038 a0001c0001t0016g0039 a0001c0001t0016g0040 a0001c0001t0027g0038	3	320	0.0094	-12	c.32+ others(27): Show c.32+7053_32+7064delACACACACACAC	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REEP3_chr10_63516401_63630128	63617812	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01070.hp2 others(7): Show HG00140.hp2 HG00733.hp1 HG01070.hp2 HG01109.hp2 HG02055.hp1 HG03453.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0051 a0001c0001t0008 a0001c0001t0023 a0001c0001t0051	a0001c0001t0008g0019 a0001c0001t0008g0094 a0001c0001t0008g0108 others(7): Show a0001c0001t0008g0019 a0001c0001t0008g0094 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0116 a0001c0001t0008g0119 a0001c0001t0023g0105 a0001c0001t0051g0229	10	284	0.0352	-12	c.566 others(29): Show c.566-1827_566-1816delTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP3_chr10_63516401_63630128	63623755	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0270 a0001c0001t0062g0270	1	284	0.0035	-12	c.29 others(23): Show c.2918_*2929delGTGTGTGTGTGT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	8/8	2918	INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP3_chr10_63516401_63630128	63628836	CTGCAGTT others(5): Show CTGCAGTTCGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0183	1	284	0.0035	-12	c.79 others(23): Show c.7968_*7979delTGCAGTTCGCCG	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding		3709		chr10	TogoVar
REEP5_chr5_112871385_112927227	112877981	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(106): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0002c0002t0025	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0032 others(104): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0009g0283 a0001c0001t0009g0284 a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289 a0001c0001t0009g0290 a0001c0001t0015g0043 a0001c0001t0015g0077 a0001c0001t0015g0078 a0001c0001t0015g0101 a0001c0001t0016g0007 a0001c0001t0016g0243 a0001c0001t0016g0245 a0001c0001t0019g0180 a0001c0001t0019g0247 a0001c0001t0019g0260 a0001c0001t0032g0035 a0001c0001t0033g0113 a0001c0001t0041g0136 a0001c0001t0042g0117 a0001c0001t0046g0011 a0002c0002t0025g0222 a0002c0002t0025g0223	109	340	0.3206	-12	c.79 others(21): Show c.793_*804delCACACACACACA	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	5/5	793		chr5	TogoVar
REEP5_chr5_112871385_112927227	112883908	CCCAATCC others(5): Show CCCAATCCATAAG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03098.hp1 HG03195.hp1 HG00741.hp1 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0040 a0001c0001t0054 a0001c0001t0039 a0001c0001t0040 a0001c0001t0054	a0001c0001t0039g0012 a0001c0001t0040g0013 a0001c0001t0054g0318 a0001c0001t0039g0012 a0001c0001t0040g0013 a0001c0001t0054g0318	3	340	0.0088	-12	c.520 others(29): Show c.520+3095_520+3106delCTTATGGATTGG	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	4/4			chr5	TogoVar
REEP5_chr5_112871385_112927227	112893094	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	340	0.0029	-12	c.352 others(29): Show c.352-5923_352-5912delTTTTTTTTTTTT	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4			chr5	TogoVar
REEP5_chr5_112871385_112927227	112897350	ATCACACA others(5): Show ATCACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01081.hp1 others(41): Show HG00408.hp2 HG00639.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01975.hp1 HG01993.hp2 HG02109.hp1 HG02300.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18970.hp2 NA18985.hp1 NA18986.hp2 NA18994.hp1 NA18998.hp1 NA19002.hp2 NA19010.hp2 NA19065.hp1 NA19082.hp2 NA19084.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0001t0031 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057	a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0186 others(40): Show a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0325 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0205 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0220 a0001c0001t0006g0252 a0001c0001t0006g0255 a0001c0001t0010g0003 a0001c0001t0010g0039 a0001c0001t0010g0040 a0001c0001t0014g0206 a0001c0001t0014g0236 a0001c0001t0021g0217 a0001c0001t0031g0237 a0001c0001t0052g0326 a0001c0001t0056g0263 a0001c0001t0057g0219	44	340	0.1294	-12	c.351 others(29): Show c.351+5018_351+5029delGTGTGTGTGTGA	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4			chr5	TogoVar
REEP6_chr19_1486181_1502927	1492129	TTTTGAGA others(5): Show TTTTGAGACCGAG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	318	0.0031	-12	c.115 others(27): Show c.115+747_115+758delTTGAGACCGAGT	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1496249	GGTGGGCC others(5): Show GGTGGGCCCGCGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	318	0.0031	-12	c.349 others(25): Show c.349-33_349-22delGGGCCCGCGTGT	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1499355	TGGCCGGG others(5): Show TGGCCGGGCGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03209.hp1 HG02559.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0127 a0001c0001t0006g0148 a0001c0001t0006g0127 a0001c0001t0006g0148	2	318	0.0063	-12	c.21 others(23): Show c.2145_*2156delGGCCGGGCGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1429		chr19	TogoVar
REG1A_chr2_79115488_79128409	79119187	GATATATA others(5): Show GATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00741.hp2 HG01069.hp1 others(45): Show HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01255.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp1 HG02071.hp2 HG02145.hp2 HG02257.hp1 HG02300.hp1 HG02572.hp1 HG02622.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18973.hp1 NA18979.hp2 NA19007.hp2 NA19043.hp2 NA19058.hp1 NA19065.hp1 NA19076.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0003g0009	48	452	0.1062	-12	c.-13 others(23): Show c.-1373_-1362delATATATATATAT	REG1A	ENSG00000115386.6	transcript	ENST00000233735.2	protein_coding		1300		chr2	TogoVar
REG4_chr1_119789017_119816460	119799409	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02280.hp1 HG03139.hp2 others(1): Show HG00323.hp2 HG02280.hp1 HG03139.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0007 a0001c0001t0003 a0002c0002t0007	a0001c0001t0003g0233 a0002c0002t0007g0129 a0002c0002t0007g0130 others(1): Show a0001c0001t0003g0233 a0002c0002t0007g0129 a0002c0002t0007g0130 a0002c0002t0007g0169	4	462	0.0087	-12	c.303 others(27): Show c.303+304_303+315delGTGTGTGTGTGT	REG4	ENSG00000134193.15	transcript	ENST00000256585.10	protein_coding	4/5			chr1	TogoVar
RELB_chr19_44996464_45043192	45011795	TGTGAGAG others(5): Show TGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	382	0.0026	-12	c.164 others(27): Show c.164-139_164-128delTGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	TGAGAGAG others(5): Show TGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01884.hp1 others(15): Show HG00558.hp1 HG00597.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG03579.hp2 HG03834.hp2 NA18953.hp2 NA18998.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0084 others(15): Show a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0316 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0374 a0001c0001t0002g0356	18	382	0.0471	-12	c.164 others(27): Show c.164-112_164-101delGAGAGAGAGAGA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELCH_chr18_62182255_62315249	62200964	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	340	0.0029	-12	c.527 others(31): Show c.527-10173_527-10162delTTTTTTTTTTTT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELCH_chr18_62182255_62315249	62253267	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02486.hp1 HG00738.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0234 a0001c0001t0006g0062 a0001c0001t0001g0234 a0001c0001t0006g0062	2	340	0.0059	-12	c.182 others(29): Show c.1824+547_1824+558delGTGTGTGTGTGT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELCH_chr18_62182255_62315249	62285119	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19086.hp1 NA18951.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0012 a0001c0002t0004g0013	2	340	0.0059	-12	c.325 others(31): Show c.3254-2213_3254-2202delTGTTTGTTTGTT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELL1_chr4_37605634_37691376	37605793	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0319 a0001c0001t0046g0319	1	324	0.0031	-12	c.75 others(23): Show c.7541_*7552delTTCTTTCTTTCT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding		4840		chr4	TogoVar
RELL1_chr4_37605634_37691376	37606108	GAGGAGGA others(5): Show GAGGAGGAGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02809.hp2 HG03471.hp2 others(2): Show HG01168.hp2 HG02809.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0051 a0001c0002t0011 a0001c0002t0051	a0001c0002t0011g0001 a0001c0002t0011g0065 a0001c0002t0011g0067 others(1): Show a0001c0002t0011g0001 a0001c0002t0011g0065 a0001c0002t0011g0067 a0001c0002t0051g0066	5	324	0.0154	-12	c.72 others(23): Show c.7226_*7237delTCTCCTCCTCCT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding		4525		chr4	TogoVar
RELL1_chr4_37605634_37691376	37612327	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02735.hp1 HG03834.hp1 others(1): Show HG02056.hp1 HG02735.hp1 HG03834.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0153 a0001c0001t0014g0294 a0001c0001t0014g0003 a0001c0001t0014g0153 a0001c0001t0014g0294	4	324	0.0124	-12	c.10 others(23): Show c.1007_*1018delGTTTTTTTTTTT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	7/7	19049		chr4	TogoVar
RELL1_chr4_37605634_37691376	37644438	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02074.hp1 others(13): Show HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp1 NA18939.hp1 NA18964.hp1 NA18970.hp1 NA18977.hp2 NA18983.hp1 NA18994.hp2 NA19009.hp1 NA19043.hp2 NA19058.hp2 NA19065.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0027 a0001c0001t0031 a0001c0001t0052 a0001c0001t0060	a0001c0001t0001g0140 a0001c0001t0001g0233 a0001c0001t0001g0236 others(13): Show a0001c0001t0001g0140 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0278 a0001c0001t0001g0308 a0001c0001t0002g0042 a0001c0001t0004g0054 a0001c0001t0010g0062 a0001c0001t0010g0063 a0001c0001t0010g0149 a0001c0001t0027g0061 a0001c0001t0027g0247 a0001c0001t0031g0148 a0001c0001t0052g0264 a0001c0001t0060g0070	16	324	0.0494	-12	c.385 others(29): Show c.385+2918_385+2929delTAAATAAATAAA	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	3/6			chr4	TogoVar
RELN_chr7_103466789_103994658	103485229	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00738.hp1 others(51): Show HG00408.hp2 HG00609.hp1 HG00738.hp1 HG01081.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01891.hp2 HG01928.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18969.hp1 NA18979.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0013 a0014 a0018 a0019 a0021 a0025 a0026 a0029 a0033 a0035	a0001c0001 a0001c0004 a0001c0008 others(27): Show a0001c0001 a0001c0004 a0001c0008 a0001c0011 a0001c0020 a0001c0024 a0001c0027 a0001c0045 a0001c0046 a0001c0054 a0001c0065 a0002c0009 a0002c0029 a0002c0030 a0003c0028 a0006c0013 a0007c0012 a0009c0044 a0009c0055 a0010c0061 a0013c0080 a0014c0077 a0018c0068 a0019c0069 a0021c0056 a0025c0039 a0026c0043 a0029c0052 a0033c0059 a0035c0071	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(37): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0008 a0001c0011t0001 a0001c0011t0002 a0001c0020t0001 a0001c0020t0004 a0001c0024t0001 a0001c0027t0001 a0001c0027t0002 a0001c0045t0012 a0001c0046t0002 a0001c0054t0001 a0001c0065t0002 a0002c0009t0001 a0002c0029t0002 a0002c0030t0001 a0003c0028t0001 a0006c0013t0001 a0006c0013t0002 a0007c0012t0001 a0007c0012t0002 a0009c0044t0008 a0009c0055t0002 a0010c0061t0001 a0013c0080t0014 a0014c0077t0001 a0018c0068t0001 a0019c0069t0001 a0021c0056t0001 a0025c0039t0001 a0026c0043t0004 a0029c0052t0001 a0033c0059t0001 a0035c0071t0002	a0001c0001t0001g0130 a0001c0004t0001g0051 a0001c0004t0001g0052 others(51): Show a0001c0001t0001g0130 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0065 a0001c0004t0001g0092 a0001c0004t0001g0100 a0001c0004t0001g0137 a0001c0004t0003g0166 a0001c0004t0005g0179 a0001c0008t0001g0114 a0001c0008t0001g0138 a0001c0008t0002g0034 a0001c0008t0004g0159 a0001c0008t0008g0001 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014 a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0024t0001g0110 a0001c0024t0001g0134 a0001c0027t0001g0128 a0001c0027t0002g0016 a0001c0045t0012g0165 a0001c0046t0002g0023 a0001c0054t0001g0112 a0001c0065t0002g0025 a0002c0009t0001g0056 a0002c0009t0001g0057 a0002c0009t0001g0074 a0002c0009t0001g0131 a0002c0029t0002g0031 a0002c0030t0001g0046 a0003c0028t0001g0095 a0003c0028t0001g0146 a0006c0013t0001g0126 a0006c0013t0002g0018 a0006c0013t0002g0022 a0007c0012t0001g0070 a0007c0012t0001g0096 a0007c0012t0002g0006 a0009c0044t0008g0002 a0009c0055t0002g0020 a0010c0061t0001g0063 a0013c0080t0014g0152 a0014c0077t0001g0155 a0018c0068t0001g0108 a0019c0069t0001g0125 a0021c0056t0001g0036 a0025c0039t0001g0116 a0026c0043t0004g0161 a0029c0052t0001g0079 a0033c0059t0001g0060 a0035c0071t0002g0026	54	184	0.2935	-12	c.998 others(29): Show c.9983+956_9983+967delTTTTTTTTTTTT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	61/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103485741	TATCCATC others(5): Show TATCCATCCAACC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00738.hp1 others(56): Show HG00408.hp2 HG00609.hp1 HG00738.hp1 HG01081.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01891.hp2 HG01928.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18969.hp1 NA18979.hp2 NA18988.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0013 a0014 a0018 a0019 a0021 a0025 a0026 a0029 a0031 a0033 a0035	a0001c0001 a0001c0004 a0001c0005 others(29): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0020 a0001c0024 a0001c0027 a0001c0045 a0001c0046 a0001c0054 a0001c0065 a0002c0009 a0002c0029 a0002c0030 a0003c0028 a0006c0013 a0007c0012 a0009c0044 a0009c0055 a0010c0061 a0013c0080 a0014c0077 a0018c0068 a0019c0069 a0021c0056 a0025c0039 a0026c0043 a0029c0052 a0031c0034 a0033c0059 a0035c0071	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(39): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0005t0001 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0008 a0001c0011t0001 a0001c0011t0002 a0001c0020t0001 a0001c0020t0004 a0001c0024t0001 a0001c0027t0001 a0001c0027t0002 a0001c0045t0012 a0001c0046t0002 a0001c0054t0001 a0001c0065t0002 a0002c0009t0001 a0002c0029t0002 a0002c0030t0001 a0003c0028t0001 a0006c0013t0001 a0006c0013t0002 a0007c0012t0001 a0007c0012t0002 a0009c0044t0008 a0009c0055t0002 a0010c0061t0001 a0013c0080t0014 a0014c0077t0001 a0018c0068t0001 a0019c0069t0001 a0021c0056t0001 a0025c0039t0001 a0026c0043t0004 a0029c0052t0001 a0031c0034t0001 a0033c0059t0001 a0035c0071t0002	a0001c0001t0001g0130 a0001c0004t0001g0051 a0001c0004t0001g0052 others(56): Show a0001c0001t0001g0130 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0065 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0100 a0001c0004t0001g0137 a0001c0004t0003g0166 a0001c0004t0005g0179 a0001c0005t0001g0037 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0008t0001g0114 a0001c0008t0001g0138 a0001c0008t0002g0034 a0001c0008t0004g0159 a0001c0008t0008g0001 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014 a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0024t0001g0110 a0001c0024t0001g0134 a0001c0027t0001g0128 a0001c0027t0002g0016 a0001c0045t0012g0165 a0001c0046t0002g0023 a0001c0054t0001g0112 a0001c0065t0002g0025 a0002c0009t0001g0056 a0002c0009t0001g0057 a0002c0009t0001g0074 a0002c0009t0001g0131 a0002c0029t0002g0031 a0002c0030t0001g0046 a0003c0028t0001g0095 a0003c0028t0001g0146 a0006c0013t0001g0126 a0006c0013t0002g0018 a0006c0013t0002g0022 a0007c0012t0001g0070 a0007c0012t0001g0096 a0007c0012t0002g0006 a0009c0044t0008g0002 a0009c0055t0002g0020 a0010c0061t0001g0063 a0013c0080t0014g0152 a0014c0077t0001g0155 a0018c0068t0001g0108 a0019c0069t0001g0125 a0021c0056t0001g0036 a0025c0039t0001g0116 a0026c0043t0004g0161 a0029c0052t0001g0079 a0031c0034t0001g0121 a0033c0059t0001g0060 a0035c0071t0002g0026	59	184	0.3207	-12	c.998 others(29): Show c.9983+444_9983+455delGGTTGGATGGAT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	61/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103491846	TCTCTCTC others(5): Show TCTCTCTCTCTCA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0023 a0001c0046t0002g0023	1	184	0.0054	-12	c.944 others(28): Show c.9443+95_9443+106delTGAGAGAGAGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar

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