Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ST3GAL1_chr8_133449848_133576887	133531036	TTTATGAT others(178): Show TTTATGATTATGCTCTGCAGCACCCCAAACACAGCAGTGGCTGTCCCCCG CTCTTAGTAGGGGATAGAAAAGCTGCCTTAAGAAATAGCTCTTACACATT CATATTTTTAGAAATAATGTGAAATGGGTGACTTTTGCTATAGTAACATT TGTGATTTTTCAATTGGTTTTAGTATATGTAATATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0209 a0001c0003t0005g0209	1	330	0.0030	-185	c.-42 others(21): Show c.-429+14553_-429+14737del	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
STK32B_chr4_5046480_5505989	5064353	CATAAATA others(178): Show CATAAATATATACTTATATACATATATAATATATAAATATATACTTATAT ACATATAATATATAAATATATACTTATATACATATAATATATAAATATAT ACTTATATACATATAATATATAAATATATACTTATGTTATATACATATAT AATATATAAATATATACTTATATACATATATAATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0121 a0002c0004t0017g0121	1	144	0.0069	-185	c.52+ others(17): Show c.52+12495_52+12679del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	47162611	AGGAGTGG others(178): Show AGGAGTGGGACTGTGGACCCGGTGCAGGGAGAGTCGTGGGAATGGGACTG CGGACCCGGTGCAGGGAGAGTCGTGGGAATGGGACTGCGGACCCGGTGCA GGGAGAGTCGTGGGAATGGGACTGCGGACCCGGTGCAGGGAGAGTCGGGG GAGTGGGACTGCGGACCCAGTGCAGGGAGAGTCGGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0014 a0001c0001t0004g0021 a0001c0001t0002g0014 a0001c0001t0004g0021	2	112	0.0179	-185	c.142 others(21): Show c.1426-10851_1426-10667del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	376694	GCCCCACC others(178): Show GCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC TCCGTGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCC CCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0059 a0001c0001t0011g0059	1	342	0.0029	-185	c.-90 others(9): Show c.-909_-725del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		669		chr19	TogoVar
TMC4_chr19_54155108_54178160	54172242	TCCTCCTC others(178): Show TCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTC CTCCTCCCTCAGACCCAGGAGAACAGGCCCCCGGCG	T T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	1	404	0.0025	-185	c.80- others(13): Show c.80-344_80-160del	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	1/14			chr19	TogoVar
TMEM87B_chr2_112050269_112124314	112119317	ATTGATTC others(178): Show ATTGATTCTTGATAGTATTTATTGGTGCTAGATTATATAAATCTGTAGGA CATATAGACATATATAGACTCCAATAGATGGCAGGACATAAAATTCTTAA AACAGGAGGCACAGCTAATCAAACATGGAAAAGTGCTCAACCTCAGTAGT AGTAAAGAAATGCAAAACAAAAGATAGGGGATAGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0152 a0002c0002t0014g0152	1	314	0.0032	-185	c.31 others(11): Show c.3175_*3359del	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		4		chr2	TogoVar
TWIST2_chr2_238843085_238915534	238903863	NNNNNNNN others(178): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	334	0.0030	-185	c.36 others(207): Show c.36-5979_*36-5794delNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNTinsG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXK_chr4_48061393_48139250	48104272	TAATATAT others(178): Show TAATATATAATATATATAATATATAATATAATATATAATATATATAATAT ATAATATAATATATAATATATATAATATATAATATAATATATAATATATA TAATATATAATATTATATATAATATATATAATATATAATATTATATATAA TATATATAATATATAATATTATATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02155.hp2 others(1): Show HG02109.hp2 HG02145.hp1 HG02155.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0161 a0001c0002t0001g0202 a0001c0007t0001g0124 others(1): Show a0001c0001t0001g0161 a0001c0002t0001g0202 a0001c0007t0001g0124 a0001c0007t0001g0125	4	136	0.0294	-185	c.501 others(15): Show c.501+444_501+628del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
USP13_chr3_179648040_179794401	179680821	ATGAGTCA others(178): Show ATGAGTCACCGTGCCCGGCGCTACATTGTTATAGTTTATTCATGAATACT GTCAAATATCATGTGTCACCAAAAGAAGGGAATAATATCTTTGAAGAACC CTTTCCTGCTAAAAGGACCTAAAACTTTGCATTCCTCACCAATGAATGAG GAAGAACGATAATAAAATATCACAGTGAAAATTTTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00642.hp2 others(53): Show HG00558.hp1 HG00621.hp2 HG00642.hp2 HG01169.hp2 HG01257.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03927.hp2 HG06807.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18959.hp2 NA18966.hp1 NA18969.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19090.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0007 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0033 a0001c0003t0005 a0001c0005t0005 a0001c0008t0004 a0002c0007t0001 a0005c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0034 others(53): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0121 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0002g0024 a0001c0001t0002g0089 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0272 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0011g0065 a0001c0001t0017g0192 a0001c0001t0026g0049 a0001c0001t0030g0258 a0001c0001t0031g0227 a0001c0002t0001g0145 a0001c0002t0001g0159 a0001c0002t0001g0185 a0001c0002t0002g0127 a0001c0002t0002g0147 a0001c0002t0003g0176 a0001c0002t0005g0136 a0001c0002t0016g0173 a0001c0002t0033g0174 a0001c0003t0005g0002 a0001c0003t0005g0242 a0001c0005t0005g0122 a0001c0005t0005g0178 a0001c0008t0004g0264 a0002c0007t0001g0200 a0002c0007t0001g0243 a0002c0007t0001g0253 a0005c0014t0001g0076	56	298	0.1879	-185	c.169 others(16): Show c.169-1056_169-872del	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	1/20			chr3	TogoVar
VAV2_chr9_133756894_133997324	133827825	GTGGGGGC others(178): Show GTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGT GGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCACCACCTACCGCTGCGCCCACTGGGGCTGAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0005 a0001c0028t0005	a0001c0028t0005g0024 a0001c0028t0005g0024	1	195	0.0051	-185	c.449 others(17): Show c.449+6262_449+6446del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX3A_chrX_6528618_6540118	6532750	TTCCTTCT others(178): Show TTCCTTCTTTCCTTTCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0019 a0019	a0019c0010 a0019c0010	a0019c0010t0001 a0019c0010t0001	a0019c0010t0001g0025 a0019c0010t0001g0025	1	71	0.0141	-185	c.81 others(9): Show c.810_*994del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		867		chrX	TogoVar
ZBTB46_chr20_63738670_63836264	63835967	GGGCAGGG others(178): Show GGGCAGGGCAGGGGAGAGGGCAGGGGCAGGGAGAGCGCGGGCAGGGCAGG GGAGAGGGCAGGGGCAGGGAGAGCGTGGGCAGGGCAGGGGCAGGGGAGAG CGCGGGCAGGGCAGGGGAGAGGGCAGGGGCAGGGAGAGCGCGGGCAGGGC AGGGGCAGGGGAGAAGGCAGGGGCAGGGAGAGCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02965.hp1 others(1): Show HG02109.hp1 HG02258.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017	a0001c0001t0004g0180 a0001c0001t0004g0184 a0001c0001t0006g0182 others(1): Show a0001c0001t0004g0180 a0001c0001t0004g0184 a0001c0001t0006g0182 a0001c0001t0017g0181	4	314	0.0127	-185	c.-50 others(11): Show c.-5089_-4905del	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding		4704		chr20	TogoVar
ZNF787_chr19_56082366_56126295	56098528	ATGCCACC others(178): Show ATGCCACCAGGGTGATATGGCCGCCGGGTGATGGAGCCTAGGTGATACGG CCACCAGGTGATTACGGCCGCAGGGTGATGCCGCCCGGGTGATTACGGCC GCAGGGTGATACAGCCGCAGGGTGATGCCACCAGGGTGATATGGCCGCCG GGTGATGGAGCCTAGGTGATACGGCCACCAGGTGAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0023 a0002c0016t0073 a0002c0016t0023 a0002c0016t0073	a0002c0016t0023g0286 a0002c0016t0073g0287 a0002c0016t0023g0286 a0002c0016t0073g0287	2	408	0.0049	-185	c.79+ others(15): Show c.79+4426_79+4610del	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	2/2			chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288273	TCCCCCGA others(177): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	226	0.0044	-184	c.51 others(11): Show c.5107_*5290del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4117		chr1	TogoVar
ADAMTSL3_chr15_83649123_84044842	83938038	ACATTGTA others(177): Show ACATTGTAAAGATATTTAATCTAAAAAAGTTTATTGACTATGGAAATCAA TAATAGTTTCTGATTTATCAATTTGAAAAAAGAAATATTGTCCAACAAAA CCTTGTAAAACTCAGAGAGATTGATTAATTAAAGTGCTTTAGGCCCTTAT ACTATTTGTTAAGATGGAAATGATTTTGGTTAAGT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02486.hp1 HG02809.hp1 others(2): Show HG01346.hp1 HG02486.hp1 HG02809.hp1 HG03041.hp1 NA18522.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0161 a0002c0008t0001g0176 a0002c0008t0001g0177 others(2): Show a0002c0008t0001g0161 a0002c0008t0001g0176 a0002c0008t0001g0177 a0002c0008t0001g0239 a0002c0008t0001g0241	5	272	0.0184	-184	c.211 others(19): Show c.2118-4556_2118-4373del	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADGRE3_chr19_14614117_14679844	14649543	TCTCCCCA others(177): Show TCTCCCCATCTCTCTCTTTCCATCTCTCTCCATCTCTTTCTCCTCATCTC TCTCTTTCGATCTCTGTCTTTCCATCTCTCTCTCCATCTCTCCCTCCCCA TCTCTCTCTTTCCATCTCTCTCCATCTCTTTCTCCCCATCTCTCTCTTTC GATCTCTGTCTTTCCATCTCTCTCTCCATCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0294 a0001c0006t0001g0294	1	364	0.0027	-184	c.697 others(17): Show c.697+1358_697+1541del	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	7/15			chr19	TogoVar
AGMO_chr7_15195317_15567015	15354334	GTATATAC others(177): Show GTATATACACGCGTGTATATAGACGTGTGTATATAGACGTGTGTATACAC GTGTGTGTATACACGTGTGTGTACACACGTGTGTGTATACACACACGTGT GTGTATACACACGTGTGTGTATACACACGTGTGTGTATACACACGTGTGT ATATACACACGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp2 HG02622.hp2 others(4): Show HG01255.hp1 HG02280.hp2 HG02622.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0003c0009 others(1): Show a0001c0001 a0003c0006 a0003c0009 a0004c0008	a0001c0001t0001 a0003c0006t0001 a0003c0006t0002 others(2): Show a0001c0001t0001 a0003c0006t0001 a0003c0006t0002 a0003c0009t0001 a0004c0008t0001	a0001c0001t0001g0206 a0003c0006t0001g0180 a0003c0006t0001g0186 others(4): Show a0001c0001t0001g0206 a0003c0006t0001g0180 a0003c0006t0001g0186 a0003c0006t0002g0033 a0003c0009t0001g0004 a0004c0008t0001g0225 a0004c0008t0001g0228	7	195	0.0359	-184	c.126 others(21): Show c.1263+10996_1263+11179del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AKR1E2_chr10_4821207_4853062	4827318	AAGATGTT others(177): Show AAGATGTTTGAAATGTCTTGTTATTTTGAAATACACATGTGTAGTAAATT ATTGTTGACTGTTGGCATCCTAGTGCGCAGTAAGTCTTAAAAGCTGTGTC TCCTGTGTGTTTGAAACTTTGTACCCTTTGATCAGCAACTCCCCATTCCC TCCTTCCTCACCTCCCCCAGCCCCCAGCGTCTTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01106.hp2 others(26): Show HG00642.hp1 HG00741.hp2 HG01106.hp2 HG02015.hp1 HG02129.hp1 HG02155.hp2 HG03453.hp2 NA18612.hp1 NA18941.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18988.hp2 NA18994.hp1 NA19010.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0014 a0002c0002t0003 a0002c0002t0012 a0002c0002t0014	a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 others(14): Show a0002c0002t0003g0008 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0012g0015 a0002c0002t0014g0016	29	356	0.0815	-184	c.39+ others(14): Show c.39+957_39+1140del	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANO1_chr11_70073317_70194530	70194340	ATGGATGG others(177): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGGTGAATGAA TGGATGTGTGGATGGATGGATGGATTGGGTGAATGAATGGATGTGTGGAT GGATGGATGGATGGATGGTGGATGAATGGATGGATGGTAGATGAATGGAT GGATGGATGGATGAATGGATGGATGGATGGATGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(100): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18977.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19079.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0015	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0003c0007 a0003c0010 a0003c0019 a0012c0027 a0015c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0018t0001 a0003c0007t0001 a0003c0010t0001 a0003c0019t0001 a0012c0027t0001 a0015c0028t0001	a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 others(99): Show a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0002g0001 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0013g0238 a0001c0001t0014g0217 a0001c0001t0018g0076 a0001c0002t0001g0035 a0001c0002t0001g0063 a0001c0002t0001g0133 a0001c0002t0002g0243 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0022 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0253 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0263 a0001c0003t0001g0269 a0001c0003t0001g0273 a0001c0003t0001g0278 a0001c0004t0001g0165 a0001c0004t0001g0257 a0001c0004t0001g0275 a0001c0004t0001g0276 a0001c0004t0001g0287 a0001c0004t0001g0293 a0001c0018t0001g0061 a0001c0018t0001g0138 a0003c0007t0001g0174 a0003c0007t0001g0298 a0003c0010t0001g0169 a0003c0010t0001g0170 a0003c0010t0001g0182 a0003c0019t0001g0172 a0012c0027t0001g0115 a0015c0028t0001g0155	103	298	0.3456	-184	c.63 others(11): Show c.6337_*6520del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		4811		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144531294	AAGGGCAC others(177): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	225	0.0044	-184	c.298 others(17): Show c.2981-607_2981-424del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
B4GALNT3_chr12_454939_568509	499483	CCTAGCCC others(177): Show CCTAGCCCGTGGAGCCCGTGCTCTCACTATCTACTAGCCCGTGGAGCCCG TGCTCTCACTATCTAGAACACTCCTAGCCCGTGGAGCCCGTGCTCTCACT ATCTAGAACACTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAACA CTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0011	1	387	0.0026	-184	c.170 others(19): Show c.170-35650_170-35467del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1orf174_chr1_3884133_3905272	3892349	CGGGTGCT others(177): Show CGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGG TGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCT AGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGGTGCTAGGA TCAGGGCCCGGGTCTAGACACACACACGGGTGGGA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0006	1	421	0.0024	-184	c.129 others(15): Show c.129+350_129+533del	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C7orf50_chr7_992006_1143247	1031466	GGGGGACC others(177): Show GGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGA CCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGG CAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGG GGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCC	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0232 a0001c0001t0011g0232	1	323	0.0031	-184	c.130 others(19): Show c.130-21507_130-21324del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(177): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	215	0.0047	-184	c.-1- others(13): Show c.-1-433_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127701	AATCTCGG others(177): Show AATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATC TCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGG CTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG02895.hp2 others(4): Show HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0315 a0001c0001t0005g0308 a0001c0001t0011g0306 others(4): Show a0001c0001t0002g0315 a0001c0001t0005g0308 a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0012g0305 a0001c0001t0012g0309 a0001c0001t0012g0310	7	216	0.0324	-184	c.-1- others(13): Show c.-1-499_-1-316del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128117	GATCTCGG others(177): Show GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18990.hp1 NA18945.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	244	0.0082	-184	c.-1- others(13): Show c.-1-915_-1-732del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531294	AAGGGCAC others(177): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA19087.hp1 HG03654.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0002t0002g0019 a0001c0001t0001g0003 a0001c0002t0002g0019	2	367	0.0054	-184	c.-25 others(11): Show c.-2562_-2379del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2184		chr8	TogoVar
CCDC166_chr8_143701694_143713109	143711572	GGGCCAGC others(177): Show GGGCCAGCCTCCCTCCTTTCACCGCCCTCCCCACAGCCCCGAAGCCGGGC CAGCTTCCGTCCTCCCCACCACAGCTGGGCCAGCCTCCCTCGTTTCACCG CCTGCCCCACCGCCCCAAAGCCGGGCCAGCCTCCCTCCTCCCCACCACAG CTGGGCCAGCCTCCTCCGGACCCTCACCACAGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-184	c.-36 others(11): Show c.-3647_-3464del	CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding		3464		chr8	TogoVar
CCDC73_chr11_32597721_32799662	32755953	CTATATAT others(177): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	292	0.0034	-184	c.135 others(17): Show c.135+3972_135+4155del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32756239	CTATATAT others(177): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01256.hp2 others(4): Show HG00280.hp1 HG00735.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 others(4): Show a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215	7	310	0.0226	-184	c.135 others(17): Show c.135+3686_135+3869del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CFAP221_chr2_119539449_119661661	119552646	TAGAAATA others(177): Show TAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTT TAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGA AATATTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGA AATAAATAGAAATATTTCTTTAATAAGAAATAAAG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(85): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18957.hp1 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0010	a0001c0001 a0001c0006 a0004c0005 others(4): Show a0001c0001 a0001c0006 a0004c0005 a0004c0010 a0005c0004 a0008c0012 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 a0004c0005t0001 a0004c0005t0002 a0004c0010t0001 a0005c0004t0001 a0005c0004t0002 a0008c0012t0001 a0010c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(85): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0135 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0004g0194 a0001c0006t0001g0028 a0001c0006t0001g0029 a0001c0006t0001g0030 a0001c0006t0001g0034 a0004c0005t0001g0125 a0004c0005t0002g0123 a0004c0005t0002g0124 a0004c0010t0001g0006 a0005c0004t0001g0127 a0005c0004t0001g0132 a0005c0004t0001g0204 a0005c0004t0002g0128 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0002g0131 a0005c0004t0002g0133 a0005c0004t0002g0134 a0005c0004t0002g0171 a0008c0012t0001g0197 a0010c0015t0001g0205	88	224	0.3929	-184	c.240 others(17): Show c.240+3495_240+3678del	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ8A_chr1_226935294_226992544	226978475	TACCTGCA others(177): Show TACCTGCACACCTCCTTACACATCCTCCACACACCCACCGAACACCCACT GAACACTGCACCTCCTTACCCTCCACACACCCCCCACAGCCACACACCAC CTTACACACTCTCCACACACTCTACCCTCTACACACCCGCCCACCTTACA CTCCACACACCCGCCCACCTCCTTACCCTCCACAC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18983.hp2 NA19084.hp1 others(1): Show NA18966.hp1 NA18983.hp2 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0025 a0001c0001t0001g0124 a0001c0001t0001g0125	4	410	0.0098	-184	c.730 others(16): Show c.730+959_730+1142del	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89570861	CGGGGACG others(177): Show CGGGGACGGGAGGAGGTGAGCAGGCACGGGAGGAGGTGAGCGGGGCACGG GAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGA GCGGGGACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGCAC GGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	345	0.0029	-184	c.-50 others(11): Show c.-5036_-4853del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4896		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89571007	GCACGGGA others(177): Show GCACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGCACGGGAG GAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGC GGGGACGGGAGGAGGTGAGCGGGCACGGGAGGAGGTGAGGGGCACGGGAG GAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0271 a0002c0004t0002g0271	1	346	0.0029	-184	c.-48 others(11): Show c.-4890_-4707del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4750		chr16	TogoVar
DCAKD_chr17_45018344_45056632	45051709	CCGGGAGA others(177): Show CCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGG GCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGA GGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGG GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00741.hp2 others(34): Show HG00609.hp1 HG00642.hp2 HG00741.hp2 HG01106.hp2 HG01433.hp2 HG01515.hp1 HG01943.hp1 HG02027.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02738.hp2 HG02809.hp2 HG03017.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03669.hp1 HG03704.hp2 HG04204.hp1 NA18522.hp2 NA18969.hp1 NA18973.hp1 NA19004.hp2 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19062.hp1 NA19065.hp1 NA19081.hp1 NA19086.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0033 a0001c0004t0008 a0008c0010t0002	a0001c0001t0001g0010 a0001c0001t0001g0164 a0001c0001t0004g0187 others(31): Show a0001c0001t0001g0010 a0001c0001t0001g0164 a0001c0001t0004g0187 a0001c0001t0004g0193 a0001c0001t0008g0008 a0001c0001t0008g0048 a0001c0001t0008g0053 a0001c0001t0015g0050 a0001c0002t0001g0113 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0147 a0001c0002t0002g0019 a0001c0002t0002g0104 a0001c0002t0002g0108 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0161 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0014g0134 a0001c0002t0033g0331 a0001c0004t0008g0044 a0008c0010t0002g0139	37	398	0.0930	-184	c.-64 others(9): Show c.-647_-464del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		78		chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051737	CCGGGAGA others(177): Show CCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGG GCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGG GAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGG GCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	405	0.0025	-184	c.-67 others(9): Show c.-675_-492del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		106		chr17	TogoVar
DHRSX_chrX_2214506_2505976	2280086	GAGAAAGA others(177): Show GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	48	0.0208	-184	c.388 others(19): Show c.388+11232_388+11415del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DLGAP2_chr8_732628_1713476	1393289	CCCTCATC others(177): Show CCCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTT GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCC TCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp2 HG02922.hp2 others(2): Show HG01071.hp1 HG01361.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0023 a0001c0003t0001 a0002c0001t0002 others(2): Show a0001c0002t0023 a0001c0003t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0001c0002t0023g0005 a0001c0003t0001g0025 a0002c0001t0002g0032 others(2): Show a0001c0002t0023g0005 a0001c0003t0001g0025 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0031	5	39	0.1282	-184	c.107 others(21): Show c.107-108072_107-107889del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1393703	ACCTCCTT others(177): Show ACCTCCTTGTCTTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0001 a0001c0011t0015g0001	1	40	0.0250	-184	c.107 others(21): Show c.107-107656_107-107473del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398985	TGAGTCGT others(177): Show TGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-184	c.107 others(21): Show c.107-102354_107-102171del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1407100	GTCCTCCG others(177): Show GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCGGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCG GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGT CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	-184	c.107 others(19): Show c.107-94259_107-94076del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566633	CTCTGTCT others(177): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02165.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0071 a0001c0001t0001g0010 a0001c0001t0001g0071	3	318	0.0094	-184	c.641 others(17): Show c.641-1663_641-1480del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567785	CTCTGTCT others(177): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	338	0.0030	-184	c.641 others(17): Show c.641-2815_641-2632del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1371529	TGCTGTTG others(177): Show TGCTGTTGGCGTTTGCTTTCTTGGTTTTATTACCCTCAAAATGGCGGTAC TGATAATAGTAACTTCAAAGAATTGTTGGAAGGGGTGAATGATGCTGTTG GCGTTTGCTTTCTTGGTTTTATTACCCTCAAAATGGGGGTACTGATAATA GTAACTTCAAAGAATTGTTGGAAGGGGTGAATGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02735.hp1 HG03654.hp2 others(3): Show HG02257.hp1 HG02735.hp1 HG03654.hp2 HG04199.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0048 a0001c0003t0002 others(2): Show a0001c0001t0004 a0001c0001t0048 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007	a0001c0001t0004g0015 a0001c0001t0048g0083 a0001c0003t0002g0004 others(3): Show a0001c0001t0004g0015 a0001c0001t0048g0083 a0001c0003t0002g0004 a0001c0003t0002g0021 a0001c0003t0006g0114 a0001c0003t0007g0088	6	160	0.0375	-184	c.278 others(16): Show c.2781-260_2781-77del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXOC3_chr5_438176_472290	467399	GGGCGCCC others(177): Show GGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCT TCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01168.hp2 others(14): Show HG00639.hp2 HG01123.hp2 HG01168.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02735.hp1 HG02738.hp2 HG03041.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0013 a0001c0001t0002 a0001c0002t0001 a0001c0002t0013	a0001c0001t0002g0108 a0001c0002t0001g0009 a0001c0002t0001g0023 others(5): Show a0001c0001t0002g0108 a0001c0002t0001g0009 a0001c0002t0001g0023 a0001c0002t0001g0043 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0013g0102	17	411	0.0414	-184	c.50 others(9): Show c.502_*685del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		110		chr5	TogoVar
EXOC3_chr5_438176_472290	467491	GGGTGCCT others(177): Show GGGTGCCTTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCC TCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01069.hp1 NA18943.hp1 others(4): Show HG00099.hp1 HG01069.hp1 NA18943.hp1 NA18949.hp1 NA19070.hp1 NA19074.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0187 a0001c0003t0002g0188 others(2): Show a0001c0003t0002g0008 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0193	7	416	0.0168	-184	c.59 others(9): Show c.594_*777del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		202		chr5	TogoVar
EXOC3_chr5_438176_472290	467696	CTGTCTGA others(177): Show CTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCATGT CTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGA CATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGACATC CCCTCAGCCTAGAGGGCGCCCTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02055.hp1 HG02258.hp1 others(4): Show HG01361.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0002 a0001c0014t0002 a0001c0003t0002 a0001c0014t0002	a0001c0003t0002g0016 a0001c0003t0002g0186 a0001c0003t0002g0198 others(1): Show a0001c0003t0002g0016 a0001c0003t0002g0186 a0001c0003t0002g0198 a0001c0014t0002g0199	7	413	0.0169	-184	c.79 others(9): Show c.799_*982del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		407		chr5	TogoVar
EXOC3_chr5_438176_472290	467816	TGCCCTCC others(177): Show TGCCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCCTAGAGGGCGCC CTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCC TGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGT CCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	401	0.0025	-184	c.91 others(10): Show c.919_*1102del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		527		chr5	TogoVar
EXOC3_chr5_438176_472290	468020	GTCTGACA others(177): Show GTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACA TCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATCCC CTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00738.hp1 others(16): Show HG00140.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp1 HG01928.hp1 HG01981.hp2 HG02293.hp1 HG02683.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0005 a0001c0002t0003g0018 a0001c0002t0003g0042 others(7): Show a0001c0002t0003g0005 a0001c0002t0003g0018 a0001c0002t0003g0042 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0006g0005 a0001c0002t0006g0098	19	416	0.0457	-184	c.11 others(11): Show c.1123_*1306del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		731		chr5	TogoVar
EXOC3_chr5_438176_472290	468148	ATCCCCTC others(177): Show ATCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCC CCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTC GTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTAT CTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-184	c.12 others(11): Show c.1251_*1434del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		859		chr5	TogoVar

Search by Variant

Search

Search Results