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
MACO1_chr1_25425897_25505209	25480930	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01106.hp2 others(12): Show HG01099.hp2 HG01106.hp1 HG01106.hp2 HG02559.hp2 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0002t0016 a0001c0002t0028	a0001c0001t0002g0002 a0001c0001t0002g0090 a0001c0001t0003g0018 others(12): Show a0001c0001t0002g0002 a0001c0001t0002g0090 a0001c0001t0003g0018 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0005g0002 a0001c0001t0005g0113 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0016 a0001c0002t0016g0022 a0001c0002t0028g0014	15	282	0.0532	-19	c.115 others(38): Show c.1155-3185_1155-3167delTATATATATATATATATAT	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	6/10			chr1	TogoVar
MACROD2_chr20_13990516_16058197	14417047	TATCTATC others(12): Show TATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02257.hp1 HG03041.hp2 HG01168.hp2 HG02257.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0007 a0001c0001t0004 a0002c0002t0002 a0002c0002t0007	a0001c0001t0004g0008 a0002c0002t0002g0010 a0002c0002t0007g0013 a0001c0001t0004g0008 a0002c0002t0002g0010 a0002c0002t0007g0013	3	24	0.1250	-19	c.272 others(38): Show c.272-76412_272-76394delATCTATCTATCTATCTATC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14962435	CATATATA others(12): Show CATATATATAGTATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp1 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0004g0008 a0001c0001t0001g0012 a0001c0001t0004g0008	2	24	0.0833	-19	c.419 others(40): Show c.419-267482_419-267464delTATATAGTATTTATATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14978887	ATATATAT others(12): Show ATATATATTATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01081.hp1 others(16): Show HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03486.hp2 NA18970.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0003c0003t0006	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0003g0002 a0001c0001t0004g0008 a0001c0001t0004g0016 a0001c0001t0005g0003 a0001c0001t0009g0005 a0001c0001t0012g0020 a0001c0001t0013g0006 a0002c0002t0001g0017 a0002c0002t0002g0010 a0002c0002t0002g0022 a0002c0002t0003g0024 a0002c0002t0007g0013 a0003c0003t0006g0019	19	24	0.7917	-19	c.419 others(40): Show c.419-251045_419-251027delTATATAATATATTATATAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15822626	ATTATTGA others(12): Show ATTATTGAAATAACTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	24	0.0417	-19	c.646 others(38): Show c.646-40116_646-40098delATTGAAATAACTTTAATTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROH2A1_chr5_135329381_135404231	135351543	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03017.hp1 HG02895.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0003g0155 a0001c0001t0001g0146 a0001c0001t0003g0155	2	220	0.0091	-19	c.688 others(36): Show c.688+1384_688+1402delAAAAAAAAAAAAAAAAAAA	MACROH2A1	ENSG00000113648.17	transcript	ENST00000511689.6	protein_coding	6/8			chr5	TogoVar
MACROH2A1_chr5_135329381_135404231	135383695	GGTGTGGT others(12): Show GGTGTGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02559.hp1 others(6): Show HG01884.hp1 HG02280.hp2 HG02559.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0144 a0001c0001t0003g0005 a0001c0001t0003g0016 others(3): Show a0001c0001t0001g0144 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156	9	220	0.0409	-19	c.172 others(36): Show c.172+5208_172+5226delACACACACACACACCACAC	MACROH2A1	ENSG00000113648.17	transcript	ENST00000511689.6	protein_coding	2/8			chr5	TogoVar
MAD1L1_chr7_1810795_2237945	1893252	CGGCTGGG others(12): Show CGGCTGGGATGGGAAGTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp2 others(118): Show HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18954.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18981.hp1 NA18985.hp2 NA18990.hp1 NA18999.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0005 a0003c0014 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0007t0004 a0002c0005t0001 a0002c0005t0002 a0003c0014t0001 a0004c0008t0001	a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 others(118): Show a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0007g0144 a0001c0001t0009g0247 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0003t0002g0083 a0001c0003t0007g0135 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0205 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180 a0001c0007t0004g0078 a0001c0007t0004g0079 a0001c0007t0004g0080 a0002c0005t0001g0089 a0002c0005t0002g0121 a0003c0014t0001g0067 a0004c0008t0001g0194	121	264	0.4583	-19	c.199 others(38): Show c.1998+4929_1998+4947delAGGACTTCCCATCCCAGCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2114674	TTTTTTTA others(12): Show TTTTTTTAACAAAGTTTTGA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	264	0.0038	-19	c.107 others(40): Show c.1073+34459_1073+34477delTCAAAACTTTGTTAAAAAA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1295876	CTTCACCT others(12): Show CTTCACCTGTGTCTGCACCG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	388	0.0026	-19	c.69+ others(34): Show c.69+5895_69+5913delTTCACCTGTGTCTGCACCG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8			chr4	TogoVar
MAGEA12_chrX_152728757_152742669	152734756	GAGGAATC others(12): Show GAGGAATCCCAGGATCTGCC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0035 a0001c0003t0002g0035	1	322	0.0031	-19	c.-18 others(36): Show c.-181-391_-181-373delAGGAATCCCAGGATCTGCC	MAGEA12	ENSG00000213401.10	transcript	ENST00000393869.8	protein_coding	1/2			chrX	TogoVar
MAGEA2_chrX_152744863_152758842	152758823	CTCTCTTT others(12): Show CTCTCTTTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	191	0.0052	-19	c.-53 others(30): Show c.-5385_-5367delAGAGAGAGAGAGAAAGAGA	MAGEA2	ENSG00000268606.6	transcript	ENST00000684311.1	protein_coding		4982		chrX	TogoVar
MAGEA9B_chrX_149576653_149592459	149584581	AGGTATGA others(12): Show AGGTATGAGGTGGGTGTTCC	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	242	0.0041	-19	c.-22 others(36): Show c.-221-967_-221-949delGGAACACCCACCTCATACC	MAGEA9B	ENSG00000267978.6	transcript	ENST00000595065.6	protein_coding	1/3			chrX	TogoVar
MAGEB10_chrX_27802990_27828014	27809383	CCCAACCC others(12): Show CCCAACCCCGCCAGCCCCCT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	250	0.0040	-19	c.-19 others(38): Show c.-199+1366_-199+1384delTCCAACCCCGCCAGCCCCC	MAGEB10	ENSG00000177689.10	transcript	ENST00000356790.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB10_chrX_27802990_27828014	27809475	CCCCGCCG others(12): Show CCCCGCCGGCCCCCCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	250	0.0040	-19	c.-19 others(38): Show c.-199+1443_-199+1461delGCCGGCCCCCCCCCCGCCC	MAGEB10	ENSG00000177689.10	transcript	ENST00000356790.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEL2_chr15_23638549_23652867	23641880	GACAAAGT others(12): Show GACAAAGTCCCAAATTTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG04228.hp1 HG03688.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	436	0.0046	-19	c.20 others(30): Show c.2094_*2112delTCCAAATTTGGGACTTTGT	MAGEL2	ENSG00000254585.5	transcript	ENST00000650528.1	protein_coding		1668		chr15	TogoVar
MAGI1_chr3_65348526_66043918	65400750	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0090 a0004c0004t0001g0090	1	104	0.0096	-19	c.219 others(36): Show c.2199+670_2199+688delAAAAAAAAAAAAAAAAAAA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65452108	CAAACAAA others(12): Show CAAACAAAGCAACCAAGATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp1 others(98): Show HG00140.hp1 HG00140.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0005 a0002c0002 others(7): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0003c0009 a0004c0004 a0005c0006 a0006c0008 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0003c0003t0001 a0003c0003t0002 a0003c0009t0001 a0004c0004t0001 a0004c0004t0012 a0005c0006t0001 a0006c0008t0001 a0007c0007t0003 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(98): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0003g0029 a0001c0001t0003g0046 a0001c0001t0003g0078 a0001c0001t0004g0001 a0001c0001t0005g0076 a0001c0001t0006g0005 a0001c0001t0008g0010 a0001c0001t0009g0007 a0001c0001t0011g0102 a0001c0001t0013g0104 a0001c0005t0001g0006 a0001c0005t0001g0009 a0001c0005t0001g0027 a0001c0005t0001g0043 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0049 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0097 a0002c0002t0002g0041 a0002c0002t0002g0068 a0002c0002t0002g0084 a0002c0002t0003g0017 a0002c0002t0003g0050 a0002c0002t0007g0066 a0002c0002t0010g0013 a0003c0003t0001g0012 a0003c0003t0001g0081 a0003c0003t0001g0099 a0003c0003t0002g0008 a0003c0003t0002g0020 a0003c0003t0002g0074 a0003c0003t0002g0080 a0003c0009t0001g0025 a0004c0004t0001g0057 a0004c0004t0001g0073 a0004c0004t0001g0090 a0004c0004t0001g0094 a0004c0004t0012g0103 a0005c0006t0001g0054 a0005c0006t0001g0095 a0005c0006t0001g0100 a0006c0008t0001g0092 a0007c0007t0003g0062 a0008c0010t0001g0067	101	104	0.9712	-19	c.104 others(38): Show c.1042+1131_1042+1149delTATCTTGGTTGCTTTGTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	6/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78358189	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp2 HG02965.hp1 others(1): Show HG00738.hp1 HG02451.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0015 a0001c0001t0002g0013 a0001c0004t0001g0014 others(1): Show a0001c0001t0001g0015 a0001c0001t0002g0013 a0001c0004t0001g0014 a0001c0007t0001g0040	4	40	0.1000	-19	c.110 others(40): Show c.1103+10948_1103+10966delATATATATATATTTTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78358191	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA21309.hp1 HG01261.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0003 a0001c0012t0001 a0001c0003t0003 a0001c0012t0001	a0001c0003t0003g0001 a0001c0012t0001g0022 a0001c0003t0003g0001 a0001c0012t0001g0022	2	40	0.0500	-19	c.110 others(40): Show c.1103+10946_1103+10964delATATATATATATATTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78358193	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG03041.hp1 others(3): Show HG00140.hp2 HG00741.hp1 HG03041.hp1 HG03579.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0035 others(3): Show a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0002t0001g0010 a0001c0004t0001g0031 a0001c0006t0001g0038	6	40	0.1500	-19	c.110 others(40): Show c.1103+10944_1103+10962delATATATATATATATATTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78853332	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0019 a0001c0009t0001g0019	1	40	0.0250	-19	c.418 others(40): Show c.418+153739_418+153757delAAAAAAAAAAAAAAAAAAA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79425579	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp1 HG02451.hp2 others(17): Show HG00738.hp1 HG02451.hp1 HG02451.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0013 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0002c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0036 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0005g0003 a0001c0003t0001g0011 a0001c0003t0002g0012 a0001c0003t0004g0002 a0001c0004t0001g0018 a0001c0005t0001g0005 a0001c0006t0001g0038 a0001c0007t0001g0040 a0001c0011t0001g0023 a0001c0012t0001g0022 a0001c0013t0001g0039 a0002c0008t0001g0037	20	40	0.5000	-19	c.301 others(38): Show c.301+27422_301+27440delTATATATATATATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113415983	ATATTAAT others(12): Show ATATTAATTATATAATTAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01081.hp1 others(25): Show HG00140.hp2 HG00642.hp1 HG01081.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG02056.hp1 HG02129.hp1 HG02293.hp1 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG03654.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18947.hp1 NA18960.hp1 NA18978.hp1 NA19054.hp1 NA19058.hp2 NA19063.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0160 a0001c0001t0001g0211 a0001c0001t0001g0218 others(25): Show a0001c0001t0001g0160 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0234 a0001c0002t0002g0208 a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0220 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0008g0221	28	236	0.1186	-19	c.316 others(38): Show c.316+24637_316+24655delTTAATTATATAATTAATTA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAJIN_chr11_64933230_64977108	64948631	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	384	0.0026	-19	c.350 others(34): Show c.350-831_350-813delAAAAAAAAAAATATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948637	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	384	0.0026	-19	c.350 others(34): Show c.350-837_350-819delAAAAAAAAAAAAAAAAATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948639	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	384	0.0026	-19	c.350 others(34): Show c.350-839_350-821delAAAAAAAAAAAAAAAAAAA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAK16_chr8_33480182_33506262	33495685	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp2 others(67): Show HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01099.hp1 HG01361.hp2 HG01928.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18959.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19058.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0005t0009 a0002c0002t0005 a0002c0002t0028 a0005c0006t0003	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0061 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0086 a0001c0001t0007g0085 a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0001t0026g0040 a0001c0001t0031g0004 a0001c0001t0032g0107 a0001c0005t0009g0110 a0002c0002t0005g0025 a0002c0002t0005g0112 a0002c0002t0005g0113 a0002c0002t0005g0114 a0002c0002t0005g0115 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0028g0138 a0005c0006t0003g0004	70	400	0.1750	-19	c.522 others(34): Show c.522+100_522+118delTTTTTTTTTTTTTTTTTTT	MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
MAK_chr6_10757723_10843539	10765440	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02145.hp1 others(10): Show HG00735.hp2 HG01243.hp1 HG02145.hp1 HG02486.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 a0001c0001t0002 a0001c0001t0004 a0001c0005t0002	a0001c0001t0002g0016 a0001c0001t0002g0099 a0001c0001t0002g0100 others(10): Show a0001c0001t0002g0016 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0260 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0005t0002g0116	13	272	0.0478	-19	c.179 others(36): Show c.1793-853_1793-835delAAAAAAAAAAAAAAAAAAA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	14/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813117	TATATATA others(12): Show TATATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19005.hp1 NA19240.hp1 NA19000.hp1 NA19005.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0061 a0001c0001t0001g0157 a0001c0002t0003g0152 a0001c0001t0001g0061 a0001c0001t0001g0157 a0001c0002t0003g0152	3	272	0.0110	-19	c.358 others(34): Show c.358+508_358+526delTTTATATATATATATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813118	ATATATAT others(12): Show ATATATATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	272	0.0037	-19	c.358 others(34): Show c.358+507_358+525delATTTATATATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813120	ATATATAT others(12): Show ATATATATATATATAAATTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA21309.hp2 HG01169.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0191 a0001c0002t0003g0258 a0001c0002t0003g0191 a0001c0002t0003g0258	2	272	0.0074	-19	c.358 others(34): Show c.358+505_358+523delAAATTTATATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813122	ATATATAT others(12): Show ATATATATATATAAATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01257.hp2 HG00099.hp1 HG01192.hp1 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0172	3	272	0.0110	-19	c.358 others(34): Show c.358+503_358+521delAAAAATTTATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813124	ATATATAT others(12): Show ATATATATATAAATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19089.hp1 HG02723.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0001 a0001c0001t0004 a0001c0008t0001	a0001c0001t0004g0160 a0001c0008t0001g0207 a0001c0001t0004g0160 a0001c0008t0001g0207	2	272	0.0074	-19	c.358 others(34): Show c.358+501_358+519delAAAAAAATTTATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAL2_chr8_119203363_119250673	119230256	TATGACCC others(12): Show TATGACCCTGGCTGGATAGG	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	382	0.0026	-19	c.303 others(36): Show c.303+8507_303+8525delTGGCTGGATAGGATGACCC	MAL2	ENSG00000147676.14	transcript	ENST00000614891.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
MALRD1_chr10_19043801_19739478	19315578	TTATAAAT others(12): Show TTATAAATTATAAATATTTA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00741.hp2 others(23): Show HG00544.hp1 HG00558.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01256.hp2 HG01993.hp2 HG02074.hp1 HG02615.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18947.hp1 NA18957.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp2 NA18981.hp1 NA18998.hp2 NA19086.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0009 a0011 a0016 a0018 a0032 a0058 a0066 a0067 a0080 a0087 a0091 a0092	a0001c0001 a0002c0027 a0002c0028 others(16): Show a0001c0001 a0002c0027 a0002c0028 a0002c0039 a0004c0005 a0004c0118 a0009c0073 a0011c0018 a0011c0029 a0016c0038 a0018c0017 a0032c0023 a0058c0119 a0066c0082 a0067c0081 a0080c0053 a0087c0105 a0091c0104 a0092c0096	a0001c0001t0001 a0002c0027t0001 a0002c0028t0001 others(17): Show a0001c0001t0001 a0002c0027t0001 a0002c0028t0001 a0002c0039t0001 a0004c0005t0001 a0004c0118t0001 a0009c0073t0001 a0011c0018t0001 a0011c0018t0002 a0011c0029t0001 a0016c0038t0001 a0018c0017t0001 a0032c0023t0001 a0058c0119t0001 a0066c0082t0001 a0067c0081t0001 a0080c0053t0001 a0087c0105t0001 a0091c0104t0001 a0092c0096t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0054 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0129 a0002c0027t0001g0060 a0002c0028t0001g0101 a0002c0039t0001g0134 a0004c0005t0001g0033 a0004c0005t0001g0034 a0004c0005t0001g0094 a0004c0118t0001g0100 a0009c0073t0001g0032 a0011c0018t0001g0028 a0011c0018t0002g0062 a0011c0029t0001g0097 a0016c0038t0001g0120 a0018c0017t0001g0107 a0032c0023t0001g0045 a0058c0119t0001g0010 a0066c0082t0001g0144 a0067c0081t0001g0099 a0080c0053t0001g0117 a0087c0105t0001g0047 a0091c0104t0001g0016 a0092c0096t0001g0004	26	152	0.1711	-19	c.342 others(38): Show c.3420-8334_3420-8316delTATATAAATTATAAATATT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547800	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp1 HG02451.hp1 others(3): Show HG01192.hp2 HG02280.hp1 HG02451.hp1 HG03041.hp2 HG03139.hp1 HG06807.hp2	a0009 a0014 a0049 others(3): Show a0009 a0014 a0049 a0065 a0077 a0081	a0009c0040 a0014c0116 a0049c0077 others(3): Show a0009c0040 a0014c0116 a0049c0077 a0065c0109 a0077c0086 a0081c0084	a0009c0040t0002 a0014c0116t0002 a0049c0077t0001 others(3): Show a0009c0040t0002 a0014c0116t0002 a0049c0077t0001 a0065c0109t0002 a0077c0086t0002 a0081c0084t0001	a0009c0040t0002g0067 a0014c0116t0002g0085 a0049c0077t0001g0140 others(3): Show a0009c0040t0002g0067 a0014c0116t0002g0085 a0049c0077t0001g0140 a0065c0109t0002g0077 a0077c0086t0002g0074 a0081c0084t0001g0044	6	152	0.0395	-19	c.547 others(40): Show c.5478+16451_5478+16469delATATATATATATATATATT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547802	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0055 a0017c0026t0001g0055	1	152	0.0066	-19	c.547 others(40): Show c.5478+16453_5478+16471delATATATATATATATATTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALT1_chr18_58666465_58759477	58727270	TTTTTGGG others(12): Show TTTTTGGGTTTTTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01361.hp1 others(30): Show HG00735.hp2 HG01192.hp2 HG01361.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02280.hp1 HG02300.hp2 HG02602.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03669.hp1 HG03710.hp1 HG03942.hp2 NA18955.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA19011.hp2 NA19056.hp2 NA19072.hp1 NA19079.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(11): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074	a0001c0001t0003g0249 a0001c0001t0003g0265 a0001c0001t0003g0266 others(30): Show a0001c0001t0003g0249 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0273 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0008g0146 a0001c0001t0008g0147 a0001c0001t0008g0148 a0001c0001t0008g0151 a0001c0001t0013g0261 a0001c0001t0013g0262 a0001c0001t0025g0129 a0001c0001t0025g0133 a0001c0001t0025g0134 a0001c0001t0032g0142 a0001c0001t0033g0152 a0001c0001t0033g0153 a0001c0001t0034g0130 a0001c0001t0034g0131 a0001c0001t0035g0017 a0001c0001t0035g0138 a0001c0001t0039g0132 a0001c0001t0067g0263 a0001c0001t0071g0141 a0001c0001t0072g0384 a0001c0001t0073g0150 a0001c0001t0074g0149	33	406	0.0813	-19	c.122 others(38): Show c.1222+4032_1222+4050delTTTTTGGTTTTGGGTTTTT	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAMDC4_chr9_136847346_136865799	136848939	AGCGAGGC others(12): Show AGCGAGGCCTTCGGGCGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0016 a0018 a0019 a0021 a0023 a0026 a0028 a0029 a0030 a0031 a0032 a0033	a0001c0001 a0001c0011 a0001c0024 others(29): Show a0001c0001 a0001c0011 a0001c0024 a0001c0032 a0001c0033 a0001c0034 a0001c0041 a0001c0044 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0009 a0011c0036 a0012c0012 a0013c0043 a0014c0013 a0016c0015 a0018c0037 a0019c0025 a0021c0035 a0023c0030 a0026c0029 a0028c0027 a0029c0026 a0030c0038 a0031c0039 a0032c0014 a0033c0042	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0024t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0041t0001 a0001c0044t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001 a0008c0008t0001 a0009c0009t0001 a0011c0036t0001 a0012c0012t0001 a0013c0043t0001 a0014c0013t0001 a0016c0015t0001 a0018c0037t0001 a0019c0025t0001 a0021c0035t0001 a0023c0030t0001 a0026c0029t0001 a0028c0027t0001 a0029c0026t0001 a0030c0038t0001 a0031c0039t0001 a0032c0014t0001 a0033c0042t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0001 a0001c0011t0001g0001 a0001c0024t0001g0001 a0001c0032t0001g0001 a0001c0033t0001g0001 a0001c0034t0001g0001 a0001c0041t0001g0001 a0001c0044t0001g0001 a0002c0002t0001g0002 a0003c0003t0001g0001 a0004c0004t0001g0001 a0005c0005t0001g0001 a0005c0005t0001g0010 a0006c0006t0001g0001 a0007c0007t0001g0002 a0008c0008t0001g0001 a0009c0009t0001g0001 a0011c0036t0001g0048 a0012c0012t0001g0001 a0013c0043t0001g0001 a0014c0013t0001g0001 a0016c0015t0001g0003 a0018c0037t0001g0001 a0019c0025t0001g0001 a0021c0035t0001g0001 a0023c0030t0001g0001 a0026c0029t0001g0001 a0028c0027t0001g0021 a0029c0026t0001g0001 a0030c0038t0001g0031 a0031c0039t0001g0001 a0032c0014t0001g0001 a0033c0042t0001g0001	258	350	0.7371	-19	c.-34 others(30): Show c.-3477_-3459delGCGAGGCCTTCGGGCGGTG	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding		3406		chr9	TogoVar
MAMLD1_chrX_150358317_150519173	150398314	GAAGAAGA others(12): Show GAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	226	0.0044	-19	c.-64 others(38): Show c.-64+34786_-64+34804delAGAAGAAGAAGAAGAAGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150518081	ATCACAGC others(12): Show ATCACAGCTACAAAATCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA19056.hp1 NA18994.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0102 a0001c0001t0002g0104	2	226	0.0089	-19	c.61 others(30): Show c.6123_*6141delTCACAGCTACAAAATCCCT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding		3909		chrX	TogoVar
MAMSTR_chr19_48707725_48724725	48707819	AGAAAGAC others(12): Show AGAAAGACAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	386	0.0026	-19	c.54 others(30): Show c.5429_*5447delCTTTCTTTCTTTGTCTTTC	MAMSTR	ENSG00000176909.12	transcript	ENST00000318083.11	protein_coding		4905		chr19	TogoVar
MAN1A1_chr6_119172205_119354761	119267311	TATTATAG others(12): Show TATTATAGAATATTTACATG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01175.hp2 HG01192.hp2 others(10): Show HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG02055.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03453.hp1 HG03688.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002	a0001c0001t0009g0075 a0001c0001t0010g0072 a0001c0001t0010g0073 others(10): Show a0001c0001t0009g0075 a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0010g0074 a0001c0001t0010g0076 a0001c0001t0010g0077 a0001c0001t0026g0101 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0180 a0001c0002t0002g0296	13	350	0.0371	-19	c.898 others(38): Show c.898-18976_898-18958delCATGTAAATATTCTATAAT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12			chr6	TogoVar
MAN2B2_chr4_6570189_6628362	6626037	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00738.hp2 others(1): Show HG00099.hp2 HG00639.hp2 HG00738.hp2 HG01978.hp2	a0002 a0018 a0002 a0018	a0002c0004 a0018c0024 a0002c0004 a0018c0024	a0002c0004t0008 a0018c0024t0008 a0002c0004t0008 a0018c0024t0008	a0002c0004t0008g0191 a0002c0004t0008g0192 a0018c0024t0008g0073 others(1): Show a0002c0004t0008g0191 a0002c0004t0008g0192 a0018c0024t0008g0073 a0018c0024t0008g0081	4	362	0.0111	-19	c.47 others(30): Show c.4753_*4771delAAAAAAAAAAAAAAAAAAA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding		2676		chr4	TogoVar
MAN2C1_chr15_75350792_75373607	75367921	TTCCCAGC others(12): Show TTCCCAGCAGAGGGTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19004.hp1 HG02615.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0045 a0002c0004t0001g0044 a0001c0001t0001g0045 a0002c0004t0001g0044	2	382	0.0052	-19	c.227 others(34): Show c.227+133_227+151delGCAGCACCCTCTGCTGGGA	MAN2C1	ENSG00000140400.18	transcript	ENST00000267978.10	protein_coding	2/25			chr15	TogoVar
MANSC1_chr12_12321056_12355242	12346183	GAATGGCA others(12): Show GAATGGCATGAACCCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00609.hp1 others(47): Show HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00673.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18951.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18971.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 others(17): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0054 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0079 a0001c0001t0081 a0001c0001t0098 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0002t0008 a0001c0002t0073 a0005c0011t0123	a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0255 others(45): Show a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0255 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0273 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0016g0163 a0001c0001t0016g0269 a0001c0001t0016g0270 a0001c0001t0016g0279 a0001c0001t0016g0293 a0001c0001t0017g0264 a0001c0001t0017g0283 a0001c0001t0017g0286 a0001c0001t0017g0289 a0001c0001t0018g0291 a0001c0001t0022g0267 a0001c0001t0022g0272 a0001c0001t0022g0275 a0001c0001t0029g0260 a0001c0001t0029g0274 a0001c0001t0030g0253 a0001c0001t0030g0280 a0001c0001t0054g0259 a0001c0001t0062g0254 a0001c0001t0065g0290 a0001c0001t0066g0015 a0001c0001t0079g0164 a0001c0001t0081g0257 a0001c0001t0098g0287 a0001c0001t0129g0263 a0001c0001t0130g0256 a0001c0001t0131g0282 a0001c0002t0008g0271 a0001c0002t0073g0288 a0005c0011t0123g0266	50	322	0.1553	-19	c.-10 others(38): Show c.-100-2788_-100-2770delGCCTGGGGTTCATGCCATT	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	1/3			chr12	TogoVar
MANSC4_chr12_27757427_27785236	27758368	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01884.hp1 others(11): Show HG00741.hp2 HG01168.hp2 HG01884.hp1 HG01891.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03579.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0068 a0002c0002t0001g0086 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0068 a0002c0002t0001g0086 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094	14	406	0.0345	-19	c.43 others(30): Show c.4351_*4369delCAAAAAAAAAAAAAAAAAA	MANSC4	ENSG00000205693.4	transcript	ENST00000381273.4	protein_coding		4058		chr12	TogoVar
MAOA_chrX_43651299_43751817	43657124	GAACTGTG others(12): Show GAACTGTGTTTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0256 a0001c0002t0005g0256	1	283	0.0035	-19	c.73+ others(32): Show c.73+711_73+729delAACTGTGTTTATATATATA	MAOA	ENSG00000189221.11	transcript	ENST00000338702.4	protein_coding	1/14			chrX	TogoVar
MAP1LC3A_chr20_34553718_34565345	34554354	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	408	0.0025	-19	c.-45 others(30): Show c.-4514_-4496delTTTTTTTTTTTTTTTTTTT	MAP1LC3A	ENSG00000101460.13	transcript	ENST00000360668.8	protein_coding		4363		chr20	TogoVar

Search by Variant

Search

Search Results (Total: 7091 hits)