Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
LGMN_chr14_92698809_92753627	92719281	GCCGCCGC others(14): Show GCCGCCGCCGCCGCCGCCGCCA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	420	0.0024	-21	c.139 others(36): Show c.139-458_139-438delTGGCGGCGGCGGCGGCGGCGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719318	CCGCCGCC others(14): Show CCGCCGCCACCGCCACCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	420	0.0024	-21	c.139 others(36): Show c.139-495_139-475delATGGCGGTGGCGGTGGCGGCG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LHFPL3_chr7_104323603_104913561	104343512	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp2 HG01123.hp1 others(13): Show HG00621.hp1 HG01070.hp2 HG01123.hp1 HG01192.hp1 HG02056.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02809.hp2 HG02965.hp1 HG03831.hp1 NA18972.hp2 NA18986.hp2 NA18994.hp1 NA19063.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0010	a0001c0001t0002g0080 a0001c0001t0003g0024 a0001c0001t0005g0005 others(13): Show a0001c0001t0002g0080 a0001c0001t0003g0024 a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0005g0031 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0007g0016 a0001c0001t0007g0032 a0001c0001t0008g0012 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0002t0010g0017	16	86	0.1861	-21	c.445 others(40): Show c.445+14307_445+14327delAAAAAAAAAAAAAAAAAAAAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104400104	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0057 a0001c0001t0011g0057	1	86	0.0116	-21	c.445 others(40): Show c.445+70903_445+70923delAAAAAAAAAAAAAAAAAAAAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL5_chr6_35800352_35829070	35818333	ATATATAT others(14): Show ATATATATATATATATGTATTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp1 HG02572.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0076 a0001c0001t0073 a0001c0001t0076	a0001c0001t0073g0024 a0001c0001t0076g0053 a0001c0001t0073g0024 a0001c0001t0076g0053	2	386	0.0052	-21	c.650 others(38): Show c.650-1102_650-1082delATATATATATATATGTATTTT	LHFPL5	ENSG00000197753.11	transcript	ENST00000360215.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LHX5_chr12_113457033_113476871	113457910	TTATTCAT others(14): Show TTATTCATTCATTCATTCATTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02109.hp2 others(6): Show HG01109.hp1 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0010 a0001c0001t0005 a0001c0004t0010	a0001c0001t0005g0019 a0001c0001t0005g0027 a0001c0001t0005g0029 others(2): Show a0001c0001t0005g0019 a0001c0001t0005g0027 a0001c0001t0005g0029 a0001c0001t0005g0063 a0001c0004t0010g0033	9	396	0.0227	-21	c.52 others(32): Show c.5259_*5279delGAATGAATGAATGAATGAATA	LHX5	ENSG00000089116.4	transcript	ENST00000261731.4	protein_coding		4122		chr12	TogoVar
LIAT1_chr17_405325_419666	409024	AAAAAAGA others(14): Show AAAAAAGAGAGAGAAAGTCTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	434	0.0023	-21	c.-13 others(32): Show c.-1318_-1298delAAAAAGAGAGAGAAAGTCTTG	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding		1300		chr17	TogoVar
LILRB5_chr19_54244421_54262273	54261373	CTGCAACC others(14): Show CTGCAACCTCCACCTCATGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0013 a0002c0004t0005g0013	1	474	0.0021	-21	c.-42 others(32): Show c.-4201_-4181delACCCATGAGGTGGAGGTTGCA	LILRB5	ENSG00000105609.17	transcript	ENST00000449561.3	protein_coding		4101		chr19	TogoVar
LIMA1_chr12_50170788_50288520	50193585	GTATATAT others(14): Show GTATATATGATATATATATACA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02897.hp1 HG03209.hp1 others(2): Show HG02559.hp1 HG02897.hp1 HG03209.hp1 NA18988.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0181 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0246 a0001c0001t0001g0247	5	294	0.0170	-21	c.103 others(40): Show c.1031-1045_1031-1025delTGTATATATATATCATATATA	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding	8/10			chr12	TogoVar
LIMD1_chr3_45589751_45691341	45594776	TCAACACA others(14): Show TCAACACACACACACACACACA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0203 a0001c0001t0203	a0001c0001t0203g0254 a0001c0001t0203g0254	1	358	0.0028	-21	c.-10 others(29): Show c.-101_-81delACACACACACACACACACACA	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	1/8	81	INFO_REALIGN_3_PRIME	chr3	TogoVar
LIMD1_chr3_45589751_45691341	45611723	TCTGAGGC others(14): Show TCTGAGGCTTGTCCTGACATCA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG01952.hp1 others(22): Show HG00438.hp2 HG00597.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02135.hp2 HG02148.hp1 HG04199.hp1 NA18747.hp2 NA18941.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18966.hp2 NA18981.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19077.hp1 NA19078.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 others(10): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0050 a0001c0001t0166 a0001c0001t0169 a0001c0001t0191 a0001c0001t0192 a0001c0001t0196 a0001c0001t0201 a0001c0002t0089 a0001c0002t0113	a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0061 others(22): Show a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0007g0065 a0001c0001t0010g0051 a0001c0001t0010g0052 a0001c0001t0010g0053 a0001c0001t0015g0260 a0001c0001t0015g0261 a0001c0001t0015g0262 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0018g0057 a0001c0001t0050g0060 a0001c0001t0050g0064 a0001c0001t0166g0263 a0001c0001t0169g0258 a0001c0001t0191g0289 a0001c0001t0192g0290 a0001c0001t0196g0165 a0001c0001t0201g0056 a0001c0002t0089g0343 a0001c0002t0113g0344	25	358	0.0698	-21	c.140 others(42): Show c.1408+15446_1408+15466delGTCCTGACATCACTGAGGCTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
LIMS1_chr2_108529470_108692246	108549279	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03491.hp2 HG03834.hp1 HG03239.hp2 HG03491.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0245 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0245	3	246	0.0122	-21	c.32+ others(38): Show c.32+14698_32+14718delTTTTTTTTTTTTTTTTTTTTT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIMS1_chr2_108529470_108692246	108551604	ATATGTAT others(14): Show ATATGTATATATATGTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0236 a0001c0002t0004g0236	1	246	0.0041	-21	c.32+ others(38): Show c.32+17011_32+17031delTATGTATATATATGTATATAT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9			chr2	TogoVar
LIMS1_chr2_108529470_108692246	108564956	GCCCTAGC others(14): Show GCCCTAGCTCTTTAAGAGAAAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(106): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00639.hp1 HG01070.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18977.hp2 NA18984.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0003 others(2): Show a0001c0002 a0001c0004 a0002c0003 a0003c0005 a0004c0006	a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 others(12): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0002t0025 a0001c0002t0027 a0001c0002t0030 a0001c0004t0013 a0002c0003t0018 a0002c0003t0026 a0003c0005t0001 a0004c0006t0004	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(106): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0239 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0244 a0001c0002t0004g0245 a0001c0002t0007g0214 a0001c0002t0007g0215 a0001c0002t0007g0216 a0001c0002t0007g0217 a0001c0002t0007g0218 a0001c0002t0008g0221 a0001c0002t0008g0222 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0009g0078 a0001c0002t0009g0079 a0001c0002t0009g0080 a0001c0002t0009g0081 a0001c0002t0012g0006 a0001c0002t0012g0007 a0001c0002t0012g0220 a0001c0002t0016g0045 a0001c0002t0016g0070 a0001c0002t0025g0026 a0001c0002t0027g0016 a0001c0002t0030g0067 a0001c0004t0013g0073 a0001c0004t0013g0074 a0002c0003t0018g0005 a0002c0003t0026g0219 a0003c0005t0001g0041 a0004c0006t0004g0243	109	246	0.4431	-21	c.32+ others(38): Show c.32+30386_32+30406delCTAGCTCTTTAAGAGAAACCC	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIMS1_chr2_108529470_108692246	108642337	TTTTTGTT others(14): Show TTTTTGTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01192.hp1 others(10): Show HG00099.hp1 HG01109.hp1 HG01192.hp1 HG02602.hp2 HG02717.hp2 HG03669.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18954.hp1 NA18994.hp1 NA18994.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0021 others(10): Show a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0030 a0001c0002t0001g0046 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0004g0235 a0001c0002t0004g0238 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0244	13	246	0.0529	-21	c.33- others(38): Show c.33-17263_33-17243delGTTTTTTTTTTTTTTTGTTTT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIMS2_chr2_127633426_127680530	127668691	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0072 a0001c0002t0027g0072	1	348	0.0029	-21	c.11+ others(36): Show c.11+6302_11+6322delGTTTTTTTTTTTTTTTTTTTT	LIMS2	ENSG00000072163.20	transcript	ENST00000355119.9	protein_coding	1/9			chr2	TogoVar
LIMS2_chr2_127633426_127680530	127668693	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAACAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG02723.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0021 a0001c0001t0035 a0001c0002t0021	a0001c0001t0035g0123 a0001c0002t0021g0069 a0001c0001t0035g0123 a0001c0002t0021g0069	2	348	0.0058	-21	c.11+ others(36): Show c.11+6300_11+6320delGTGTTTTTTTTTTTTTTTTTT	LIMS2	ENSG00000072163.20	transcript	ENST00000355119.9	protein_coding	1/9			chr2	TogoVar
LIN54_chr4_82919603_83015823	82922710	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02965.hp1 others(1): Show HG02622.hp2 HG02630.hp2 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0289 a0001c0001t0008g0290 a0001c0001t0008g0291 others(1): Show a0001c0001t0008g0289 a0001c0001t0008g0290 a0001c0001t0008g0291 a0001c0001t0008g0292	4	304	0.0132	-21	c.53 others(32): Show c.5371_*5391delAAAAAAAAAAAAAAAAAAAAA	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding		1892		chr4	TogoVar
LINGO2_chr9_27932617_29218601	28769510	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0001 a0001c0001t0018g0015 a0001c0001t0010g0001 a0001c0001t0018g0015	2	62	0.0323	-21	c.-39 others(42): Show c.-394-99251_-394-99231delAAAAAAAAAAAAATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28769514	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0039 a0001c0001t0027g0030 a0001c0001t0004g0039 a0001c0001t0027g0030	2	62	0.0323	-21	c.-39 others(42): Show c.-394-99255_-394-99235delAAAAAAAAAAAAAAAAATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28769516	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp1 HG02922.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0028 a0001c0001t0008 a0001c0001t0028	a0001c0001t0008g0040 a0001c0001t0028g0038 a0001c0001t0008g0040 a0001c0001t0028g0038	2	62	0.0323	-21	c.-39 others(42): Show c.-394-99257_-394-99237delAAAAAAAAAAAAAAAAAAATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO3_chr19_2282164_2313154	2308142	AGCCGCCG others(14): Show AGCCGCCGCCGCCGCCGCCGCC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0353 a0001c0001t0074g0353	1	418	0.0024	-21	c.-13 others(30): Show c.-134_-114delGGCGGCGGCGGCGGCGGCGGC	LINGO3	ENSG00000220008.4	transcript	ENST00000698372.1	protein_coding	1/2	16367		chr19	TogoVar
LIPA_chr10_89208572_89256775	89248439	TTTATATT others(14): Show TTTATATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0285 a0002c0002t0002g0285	1	384	0.0026	-21	c.-1- others(34): Show c.-1-811_-1-791delTAAATAAATAAATAAATATAA	LIPA	ENSG00000107798.18	transcript	ENST00000336233.10	protein_coding	1/9			chr10	TogoVar
LIPF_chr10_88659442_88683814	88679260	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(239): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0002c0010 a0003c0003 others(2): Show a0001c0001 a0002c0010 a0003c0003 a0007c0006 a0008c0007	a0001c0001t0001 a0002c0010t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0010t0001 a0003c0003t0001 a0007c0006t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0126 a0002c0010t0001g0127 a0003c0003t0001g0007 a0003c0003t0001g0020 a0003c0003t0001g0023 a0003c0003t0001g0029 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0053 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0143 a0007c0006t0001g0011 a0008c0007t0001g0001	242	414	0.5845	-21	c.58 others(30): Show c.580_*600delTATTATTATTATTATTATTAT	LIPF	ENSG00000182333.15	transcript	ENST00000238983.9	protein_coding		447		chr10	TogoVar
LIPI_chr21_14103813_14215955	14106197	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0301 a0001c0008t0001g0301	1	362	0.0028	-21	c.27 others(32): Show c.2775_*2795delATATATATATATATTTTTTTT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2615		chr21	TogoVar
LIPI_chr21_14103813_14215955	14125055	TAACTTGA others(14): Show TAACTTGAAGACATTTTTAGAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 NA19030.hp2 HG02572.hp1 HG02886.hp2 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0007 a0004c0003 a0002c0007 a0004c0003	a0002c0007t0002 a0004c0003t0001 a0002c0007t0002 a0004c0003t0001	a0002c0007t0002g0256 a0004c0003t0001g0024 a0004c0003t0001g0113 a0002c0007t0002g0256 a0004c0003t0001g0024 a0004c0003t0001g0113	3	362	0.0083	-21	c.129 others(42): Show c.1296-15996_1296-15976delGTCTAAAAATGTCTTCAAGTT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding	9/9			chr21	TogoVar
LIPT1_chr2_99149967_99168137	99161251	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	406	0.0025	-21	c.-1- others(34): Show c.-1-685_-1-665delAAAAAAAAAAAAAAAAAAAAA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161272	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	406	0.0025	-21	c.-1- others(34): Show c.-1-683_-1-663delAAAAAAAAAAAAAAAAAAATA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161276	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	406	0.0025	-21	c.-1- others(34): Show c.-1-679_-1-659delAAAAAAAAAAAAAAATATATA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161278	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	406	0.0025	-21	c.-1- others(34): Show c.-1-677_-1-657delAAAAAAAAAAAAATATATATA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161280	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	406	0.0025	-21	c.-1- others(34): Show c.-1-675_-1-655delAAAAAAAAAAATATATATATA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LMAN1_chr18_59322823_59364265	59323561	GGTAATAA others(14): Show GGTAATAACTGTATTCTATTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG03516.hp1 others(1): Show HG02258.hp2 HG03139.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0010t0001g0194	4	386	0.0104	-21	c.75 others(32): Show c.7511_*7531delGGAATAGAATACAGTTATTAC	LMAN1	ENSG00000074695.6	transcript	ENST00000251047.6	protein_coding		4261		chr18	TogoVar
LMF1_chr16_848634_975984	875974	CACACCCC others(14): Show CACACCCCTCCATTCAGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02486.hp1 others(1): Show HG01884.hp1 HG02145.hp2 HG02486.hp1 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0053 a0001c0006t0001g0285 a0001c0006t0001g0286 others(1): Show a0001c0004t0001g0053 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287	4	294	0.0136	-21	c.897 others(38): Show c.897+3575_897+3595delCCAGCCTGAATGGAGGGGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	6/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198039034	ACCAACCA others(14): Show ACCAACCACTTTCATCTGCAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01884.hp2 HG01934.hp2 others(3): Show HG01175.hp1 HG01884.hp2 HG01934.hp2 HG02258.hp1 HG02809.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0043 a0002c0002t0044 others(1): Show a0002c0002t0017 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045	a0002c0002t0017g0031 a0002c0002t0017g0035 a0002c0002t0017g0036 others(3): Show a0002c0002t0017g0031 a0002c0002t0017g0035 a0002c0002t0017g0036 a0002c0002t0043g0034 a0002c0002t0044g0032 a0002c0002t0045g0033	6	258	0.0233	-21	c.38 others(30): Show c.383_*403delTGCAACCCAACCACTTTCATC	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	17/17	383	INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198039080	ACACCTTC others(14): Show ACACCTTCATCTGCAACCCAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02572.hp1 others(5): Show HG01891.hp2 HG02280.hp2 HG02572.hp1 HG02895.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0046 a0002c0002t0009 a0002c0002t0046	a0002c0002t0009g0019 a0002c0002t0009g0039 a0002c0002t0009g0040 others(5): Show a0002c0002t0009g0019 a0002c0002t0009g0039 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0009g0042 a0002c0002t0009g0045 a0002c0002t0009g0046 a0002c0002t0046g0043	8	258	0.0310	-21	c.42 others(30): Show c.424_*444delTGCAACCCAACCACCTTCATC	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	17/17	424	INFO_REALIGN_3_PRIME	chr3	TogoVar
LMNTD1_chr12_25471082_25558283	25517707	GAATAATA others(14): Show GAATAATAATAATAATAATAAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(296): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0015 a0002c0002 a0004c0006 a0005c0009 a0006c0011 a0007c0012 a0008c0013 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0001c0007t0003 a0001c0007t0004 a0001c0010t0001 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0004c0006t0001 a0005c0009t0001 a0006c0011t0002 a0007c0012t0001 a0008c0013t0003 a0009c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(289): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0003g0277 a0001c0001t0004g0252 a0001c0004t0001g0162 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0007t0003g0172 a0001c0007t0004g0174 a0001c0010t0001g0308 a0001c0015t0001g0173 a0002c0002t0001g0212 a0002c0002t0002g0022 a0004c0006t0001g0282 a0004c0006t0001g0283 a0004c0006t0001g0326 a0005c0009t0001g0375 a0006c0011t0002g0068 a0007c0012t0001g0376 a0008c0013t0003g0171 a0009c0008t0001g0254	299	388	0.7706	-21	c.118 others(40): Show c.1189+1067_1189+1087delATTATTATTATTATTATTATT	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	8/9			chr12	TogoVar
LMO1_chr11_8219309_8268878	8223028	CTGGGCTG others(14): Show CTGGGCTGTGGGCTGTGGGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02559.hp1 HG02809.hp2 others(7): Show HG01346.hp1 HG02559.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0062 others(7): Show a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0003g0285	10	424	0.0236	-21	c.15 others(32): Show c.1567_*1587delCAGCCCACAGCCCACAGCCCA	LMO1	ENSG00000166407.14	transcript	ENST00000335790.8	protein_coding		1280		chr11	TogoVar
LMX1B_chr9_126608928_126706032	126698088	TGGTCTCC others(14): Show TGGTCTCCAACCCCCGACCTCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01934.hp2 others(9): Show HG00408.hp1 HG00642.hp1 HG01934.hp2 HG01993.hp2 HG02165.hp2 HG02300.hp1 NA18999.hp1 NA19006.hp1 NA19007.hp2 NA19056.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0041 a0001c0001t0099 others(3): Show a0001c0001t0005 a0001c0001t0041 a0001c0001t0099 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140	a0001c0001t0005g0212 a0001c0001t0005g0258 a0001c0001t0005g0274 others(9): Show a0001c0001t0005g0212 a0001c0001t0005g0258 a0001c0001t0005g0274 a0001c0001t0005g0278 a0001c0001t0005g0285 a0001c0001t0005g0300 a0001c0001t0041g0304 a0001c0001t0041g0324 a0001c0001t0099g0315 a0001c0001t0138g0303 a0001c0001t0139g0302 a0001c0001t0140g0249	12	342	0.0351	-21	c.16 others(32): Show c.1641_*1661delCTCCAACCCCCGACCTCAGGT	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	8/8	1641	INFO_REALIGN_3_PRIME	chr9	TogoVar
LNPEP_chr5_96931080_97042513	96958460	TCCACTAA others(14): Show TCCACTAAGTACAGAAGTGGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0071 a0001c0003t0071	a0001c0003t0071g0188 a0001c0003t0071g0188	1	352	0.0028	-21	c.20- others(38): Show c.20-20675_20-20655delACTAAGTACAGAAGTGGAGCC	LNPEP	ENSG00000113441.16	transcript	ENST00000231368.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
LOC112694756_chr16_30048151_30075414	30065698	AGGAAAAA others(14): Show AGGAAAAAGCTCGGCGGAGGGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	332	0.0030	-21	c.48 others(40): Show c.488+1197_*488+1217delAAAAGCTCGGCGGAGGGCGGA	LOC112694756	ENSG00000285043.3	transcript	ENST00000338110.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LOC127903862_chr6_16323342_16333431	16327633	GTGCTGCT others(14): Show GTGCTGCTGCTGCTGCTGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	430	0.0023	-21	c.68 others(30): Show c.688_*708delGCAGCAGCAGCAGCAGCAGCA	LOC127903862	ENSG00000288708.1	transcript	ENST00000683730.1	protein_coding		708		chr6	TogoVar
LOC127903862_chr6_16323342_16333431	16327663	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGATGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 NA19079.hp1 HG01928.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	430	0.0047	-21	c.65 others(30): Show c.658_*678delTCAGCATCAGCAGCAGCAGCA	LOC127903862	ENSG00000288708.1	transcript	ENST00000683730.1	protein_coding		678		chr6	TogoVar
LOC128092252_chr15_50643802_50691717	50679501	GTATATAT others(14): Show GTATATATATAATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02145.hp2 others(4): Show HG01109.hp1 HG01255.hp1 HG02145.hp2 HG02630.hp2 HG02717.hp2 HG02970.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0175 a0001c0001t0000g0176 a0001c0001t0000g0193 others(4): Show a0001c0001t0000g0175 a0001c0001t0000g0176 a0001c0001t0000g0193 a0001c0001t0000g0194 a0001c0001t0000g0195 a0001c0001t0000g0196 a0001c0001t0000g0197	7	388	0.0180	-21	c.187 others(38): Show c.187+7009_187+7029delTATATATATATTATATATATA	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC400499_chr16_11367015_11532247	11382620	AGTATTTT others(14): Show AGTATTTTCCCTAAACAGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00735.hp1 others(64): Show HG00323.hp1 HG00323.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0009 a0012 a0015 others(60): Show a0009 a0012 a0015 a0021 a0026 a0032 a0034 a0040 a0041 a0044 a0048 a0050 a0053 a0056 a0058 a0060 a0064 a0066 a0072 a0075 a0091 a0104 a0113 a0133 a0140 a0147 a0148 a0149 a0151 a0152 a0153 a0154 a0155 a0156 a0157 a0158 a0159 a0162 a0164 a0166 a0174 a0178 a0180 a0187 a0194 a0196 a0200 a0203 a0205 a0206 a0208 a0209 a0211 a0213 a0214 a0221 a0225 a0226 a0227 a0246 a0247 a0253 a0254	a0009c0006 a0012c0116 a0015c0012 others(60): Show a0009c0006 a0012c0116 a0015c0012 a0021c0015 a0026c0025 a0032c0185 a0034c0028 a0040c0038 a0041c0039 a0044c0166 a0048c0114 a0050c0068 a0053c0072 a0056c0075 a0058c0120 a0060c0085 a0064c0055 a0066c0056 a0072c0063 a0075c0078 a0091c0058 a0104c0140 a0113c0135 a0133c0041 a0140c0092 a0147c0100 a0148c0101 a0149c0167 a0151c0042 a0152c0035 a0153c0036 a0154c0269 a0155c0192 a0156c0233 a0157c0194 a0158c0178 a0159c0230 a0162c0232 a0164c0177 a0166c0179 a0174c0265 a0178c0223 a0180c0216 a0187c0196 a0194c0202 a0196c0226 a0200c0195 a0203c0180 a0205c0189 a0206c0264 a0208c0187 a0209c0183 a0211c0181 a0213c0190 a0214c0191 a0221c0246 a0225c0248 a0226c0251 a0227c0252 a0246c0051 a0247c0046 a0253c0270 a0254c0031	a0009c0006t0005 a0012c0116t0005 a0015c0012t0002 others(60): Show a0009c0006t0005 a0012c0116t0005 a0015c0012t0002 a0021c0015t0002 a0026c0025t0006 a0032c0185t0002 a0034c0028t0002 a0040c0038t0002 a0041c0039t0013 a0044c0166t0002 a0048c0114t0007 a0050c0068t0002 a0053c0072t0006 a0056c0075t0002 a0058c0120t0002 a0060c0085t0006 a0064c0055t0008 a0066c0056t0006 a0072c0063t0002 a0075c0078t0002 a0091c0058t0002 a0104c0140t0001 a0113c0135t0002 a0133c0041t0002 a0140c0092t0005 a0147c0100t0008 a0148c0101t0002 a0149c0167t0010 a0151c0042t0006 a0152c0035t0007 a0153c0036t0002 a0154c0269t0010 a0155c0192t0007 a0156c0233t0002 a0157c0194t0002 a0158c0178t0006 a0159c0230t0012 a0162c0232t0007 a0164c0177t0002 a0166c0179t0002 a0174c0265t0006 a0178c0223t0005 a0180c0216t0015 a0187c0196t0002 a0194c0202t0005 a0196c0226t0002 a0200c0195t0002 a0203c0180t0005 a0205c0189t0010 a0206c0264t0007 a0208c0187t0002 a0209c0183t0002 a0211c0181t0006 a0213c0190t0006 a0214c0191t0005 a0221c0246t0002 a0225c0248t0003 a0226c0251t0005 a0227c0252t0005 a0246c0051t0006 a0247c0046t0002 a0253c0270t0002 a0254c0031t0006	a0009c0006t0005g0053 a0012c0116t0005g0134 a0015c0012t0002g0023 others(64): Show a0009c0006t0005g0053 a0012c0116t0005g0134 a0015c0012t0002g0023 a0015c0012t0002g0025 a0021c0015t0002g0063 a0021c0015t0002g0064 a0026c0025t0006g0005 a0026c0025t0006g0006 a0032c0185t0002g0168 a0034c0028t0002g0043 a0034c0028t0002g0099 a0040c0038t0002g0030 a0041c0039t0013g0309 a0044c0166t0002g0061 a0048c0114t0007g0167 a0050c0068t0002g0277 a0053c0072t0006g0002 a0056c0075t0002g0015 a0058c0120t0002g0293 a0060c0085t0006g0040 a0064c0055t0008g0298 a0066c0056t0006g0007 a0072c0063t0002g0074 a0075c0078t0002g0039 a0091c0058t0002g0291 a0104c0140t0001g0160 a0113c0135t0002g0047 a0133c0041t0002g0296 a0140c0092t0005g0228 a0147c0100t0008g0029 a0148c0101t0002g0142 a0149c0167t0010g0041 a0151c0042t0006g0034 a0152c0035t0007g0032 a0153c0036t0002g0036 a0154c0269t0010g0290 a0155c0192t0007g0026 a0156c0233t0002g0306 a0157c0194t0002g0031 a0158c0178t0006g0028 a0159c0230t0012g0224 a0162c0232t0007g0225 a0164c0177t0002g0010 a0166c0179t0002g0017 a0174c0265t0006g0165 a0178c0223t0005g0275 a0180c0216t0015g0310 a0187c0196t0002g0300 a0194c0202t0005g0143 a0196c0226t0002g0131 a0200c0195t0002g0141 a0203c0180t0005g0148 a0205c0189t0010g0046 a0206c0264t0007g0274 a0208c0187t0002g0051 a0209c0183t0002g0058 a0211c0181t0006g0287 a0213c0190t0006g0159 a0214c0191t0005g0158 a0221c0246t0002g0119 a0225c0248t0003g0284 a0226c0251t0005g0176 a0227c0252t0005g0175 a0246c0051t0006g0235 a0247c0046t0002g0295 a0253c0270t0002g0292 a0254c0031t0006g0285	67	310	0.2161	-21	c.995 others(40): Show c.9958+1001_9958+1021delACCACTGTTTAGGGAAAATAC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	66/66			chr16	TogoVar
LONP1_chr19_5686834_5725146	5687200	CCTGGCCC others(14): Show CCTGGCCCCGCCCTCTGGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02970.hp1 others(4): Show HG02258.hp1 HG02486.hp1 HG02970.hp1 HG02976.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0029 a0001c0002 a0012c0029	a0001c0002t0001 a0012c0029t0001 a0001c0002t0001 a0012c0029t0001	a0001c0002t0001g0118 a0001c0002t0001g0346 a0001c0002t0001g0347 others(4): Show a0001c0002t0001g0118 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0001g0350 a0001c0002t0001g0351 a0012c0029t0001g0349	7	386	0.0181	-21	c.48 others(32): Show c.4811_*4831delAAACCCAGAGGGCGGGGCCAG	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding		4633		chr19	TogoVar
LONP1_chr19_5686834_5725146	5715643	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03688.hp1 NA18966.hp2 others(1): Show HG01175.hp2 HG03688.hp1 NA18966.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0020t0001g0317	4	386	0.0104	-21	c.430 others(38): Show c.430-1393_430-1373delTTTTTTTTTTTTTTTTTTTTT	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	1/17			chr19	TogoVar
LOXHD1_chr18_46472273_46662220	46653584	CAGCACAA others(14): Show CAGCACAAACAATTGTCAATCT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0152 a0003c0003t0001g0152	1	270	0.0037	-21	c.130 others(38): Show c.130+3299_130+3319delAGATTGACAATTGTTTGTGCT	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	1/40			chr18	TogoVar
LOXL2_chr8_23291897_23409120	23363728	ACTTCCAT others(14): Show ACTTCCATGGACCCCCAATAAT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0154 a0001c0003t0002g0154	1	348	0.0029	-21	c.356 others(38): Show c.356-3484_356-3464delATTATTGGGGGTCCATGGAAG	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	2/13			chr8	TogoVar
LOXL2_chr8_23291897_23409120	23371751	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03927.hp1 NA20752.hp2 HG03491.hp2 HG03927.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0022 a0001c0002 a0001c0003 a0002c0022	a0001c0002t0001 a0001c0003t0001 a0002c0022t0003 a0001c0002t0001 a0001c0003t0001 a0002c0022t0003	a0001c0002t0001g0163 a0001c0003t0001g0162 a0002c0022t0003g0300 a0001c0002t0001g0163 a0001c0003t0001g0162 a0002c0022t0003g0300	3	348	0.0086	-21	c.-83 others(38): Show c.-83-3338_-83-3318delTTTTTTTTTTTTTTTTTTTTT	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	1/13			chr8	TogoVar
LOXL4_chr10_98242690_98273194	98265371	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	438	0.0023	-21	c.-32 others(38): Show c.-32-2341_-32-2321delATAATAATAATAATAATAATA	LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding	1/14			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 6287 hits)