JoGo: Joint Open Genome and Omics Platform

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 (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	status	chr	external
MAD1L1_chr7_1810795_2237945	1924240	A A	AGCACATC others(20): Show AGCACATCACCACAGGAGTCCTTCTCGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	264	0.0038	27	c.180 others(48): Show c.1807+12420_1807+12446dupGCGAGAAGGACTCCTGTGGTGATG TGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929834	C C	CCACTGCC others(20): Show CCACTGCCACGTCCCCTCGCCCCGTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02922.hp1 others(5): Show HG01081.hp1 HG01891.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0184 a0001c0001t0001g0185 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0223 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254	8	264	0.0303	27	c.180 others(46): Show c.1807+6852_1807+6853insTGGACGGGGCGAGGGGACGTGGCAGT G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929939	G G	GTCCCCAC others(20): Show GTCCCCACTGCCACGTCCCCTCGCCCCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	264	0.0038	27	c.180 others(46): Show c.1807+6747_1807+6748insTGGGGCGAGGGGACGTGGCAGTGGGG A	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929963	C C	CCCCGTCC others(20): Show CCCCGTCCCCACTGCCACGTCCCCTCAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03540.hp1 HG01255.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0001t0001g0255 a0001c0001t0002g0166	2	264	0.0076	27	c.180 others(46): Show c.1807+6697_1807+6723dupATGAGGGGACGTGGCAGTGGGGACGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930298	C C	CTACAGCC others(20): Show CTACAGCCACGTCCCACCACCACGTCCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	264	0.0038	27	c.180 others(46): Show c.1807+6388_1807+6389insTGGACGTGGTGGTGGGACGTGGCTGT A	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930350	C C	CCCCACTG others(20): Show CCCCACTGCCACGTCCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0120 a0002c0005t0001g0120	1	264	0.0038	27	c.180 others(46): Show c.1807+6336_1807+6337insACGGGGCGAGGGGGACGTGGCAGTGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930350	C C	CCCCCACT others(20): Show CCCCCACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02896.hp2 HG02897.hp2 others(8): Show HG01081.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG06807.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0081 a0001c0001t0001g0172 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0081 a0001c0001t0001g0172 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0010t0001g0084	11	264	0.0417	27	c.180 others(46): Show c.1807+6336_1807+6337insACGGGGCGAGGGGACGTGGCAGTGGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930370	C C	CATCCCGT others(20): Show CATCCCGTCCCCACTGCCACGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	264	0.0038	27	c.180 others(46): Show c.1807+6316_1807+6317insCAGGGGACGTGGCAGTGGGGACGGGA T	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930378	C C	CCCCACTG others(20): Show CCCCACTGCCACGTCCCCATCGCCCCGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0264 a0002c0002t0010g0264	1	264	0.0038	27	c.180 others(46): Show c.1807+6308_1807+6309insACGGGGCGATGGGGACGTGGCAGTGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930381	C C	CTACAGCC others(20): Show CTACAGCCACGTCCCACCACCACGTCCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	264	0.0038	27	c.180 others(46): Show c.1807+6305_1807+6306insTGGACGTGGTGGTGGGACGTGGCTGT A	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930463	C C	CTACTGCC others(20): Show CTACTGCCACATCCCACCACCACGTCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02055.hp1 others(26): Show HG00639.hp2 HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0003c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0007 a0001c0006t0001 a0003c0014t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(26): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0250 a0001c0001t0007g0144 a0001c0001t0009g0247 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0007g0135 a0001c0006t0001g0158 a0003c0014t0001g0067	29	264	0.1099	27	c.180 others(46): Show c.1807+6223_1807+6224insTGGACGTGGTGGTGGGATGTGGCAGT A	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930488	C C	CCCCACTG others(20): Show CCCCACTGCCACGTCCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	264	0.0038	27	c.180 others(46): Show c.1807+6198_1807+6199insACGGGGCGAGGGGGACGTGGCAGTGG G	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18		chr7	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0086 a0005c0006t0001g0054 a0001c0001t0001g0086 a0005c0006t0001g0054	2	104	0.0192	27	c.220 others(46): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22		chr3	TogoVar
MAGI1_chr3_65348526_66043918	65926327	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	104	0.0096	27	c.313 others(48): Show c.313+111668_313+111669insGAGAGAGAGAGAGAGAGAGAGAGA GAG	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22		chr3	TogoVar
MAGI2_chr7_78012055_79458667	78281731	C C	CATTATCC others(20): Show CATTATCCTGAGGTATTTTCCAGGTGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG02965.hp2 others(3): Show HG00639.hp1 HG00639.hp2 HG02965.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0010t0002 a0001c0015t0001	a0001c0001t0001g0017 a0001c0001t0002g0006 a0001c0002t0001g0026 others(3): Show a0001c0001t0001g0017 a0001c0001t0002g0006 a0001c0002t0001g0026 a0001c0005t0001g0005 a0001c0010t0002g0021 a0001c0015t0001g0027	6	40	0.1500	27	c.140 others(48): Show c.1409-25177_1409-25151dupATCACCTGGAAAATACCTCAGGAT AAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	9/21		chr7	TogoVar
MAGI2_chr7_78012055_79458667	78649235	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp2 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0014 a0001c0006t0001g0038 a0001c0004t0001g0014 a0001c0006t0001g0038	2	40	0.0500	27	c.419 others(46): Show c.419-21997_419-21996insCTTTTTTTTTTTTTTTTTTTTTTTTT T	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21		chr7	TogoVar
MAGI2_chr7_78012055_79458667	79399095	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03225.hp2 NA21309.hp2 HG00741.hp1 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0005 a0001c0004t0001 a0001c0001t0002 a0001c0002t0005 a0001c0004t0001	a0001c0001t0002g0035 a0001c0002t0005g0003 a0001c0004t0001g0014 a0001c0001t0002g0035 a0001c0002t0005g0003 a0001c0004t0001g0014	3	40	0.0750	27	c.301 others(46): Show c.301+53924_301+53925insAAAAAAAAAAAAAAAAAAAAAAAAAA A	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21		chr7	TogoVar
MAGI3_chr1_113385515_113690923	113437870	T T	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	236	0.0042	27	c.316 others(46): Show c.316+46530_316+46531insTCTTCTTCTTCTTCTTCCTCTTCTTC T	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113437876	T T	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19064.hp1 NA18995.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0047 a0001c0001t0004g0035 a0001c0001t0004g0047	2	236	0.0085	27	c.316 others(46): Show c.316+46530_316+46531insTCTTCTTCTTCTTCTTCTTCTTCCTC T	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113437922	C C	CCTTCTCC others(20): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18962.hp1 NA18986.hp2 HG02071.hp1 NA18962.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0074 a0001c0001t0003g0090 a0001c0001t0003g0109	3	236	0.0127	27	c.316 others(46): Show c.316+46575_316+46576insTCTCCTTCTCCTTCTCCTTCTCCTTC T	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGOH_chr1_53221900_53243518	53237673	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	438	0.0023	27	c.88+ others(40): Show c.88+687_88+688insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MAGOH	ENSG00000162385.11	transcript	ENST00000371470.8	protein_coding	1/4		chr1	TogoVar
MAJIN_chr11_64933230_64977108	64948640	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	384	0.0026	27	c.350 others(42): Show c.350-822_350-821insTATATATATATATATATATATATATAT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10		chr11	TogoVar
MALRD1_chr10_19043801_19739478	19148788	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01081.hp1 HG01081.hp2	a0042 a0043 a0042 a0043	a0042c0090 a0043c0091 a0042c0090 a0043c0091	a0042c0090t0001 a0043c0091t0002 a0042c0090t0001 a0043c0091t0002	a0042c0090t0001g0128 a0043c0091t0002g0064 a0042c0090t0001g0128 a0043c0091t0002g0064	2	152	0.0132	27	c.155 others(46): Show c.1558+2444_1558+2445insTATATATATATATATATATATATATA T	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	11/39		chr10	TogoVar
MALRD1_chr10_19043801_19739478	19165265	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0016 a0016	a0016c0108 a0016c0108	a0016c0108t0002 a0016c0108t0002	a0016c0108t0002g0145 a0016c0108t0002g0145	1	152	0.0066	27	c.165 others(44): Show c.1657-371_1657-370insATATATATATATATATATATATTTTGT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39	INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03041.hp2 HG03209.hp1 others(1): Show HG00544.hp1 HG03041.hp2 HG03209.hp1 HG06807.hp1	a0002 a0014 a0091 a0002 a0014 a0091	a0002c0039 a0014c0068 a0014c0116 others(1): Show a0002c0039 a0014c0068 a0014c0116 a0091c0104	a0002c0039t0001 a0014c0068t0001 a0014c0116t0002 others(1): Show a0002c0039t0001 a0014c0068t0001 a0014c0116t0002 a0091c0104t0001	a0002c0039t0001g0134 a0014c0068t0001g0079 a0014c0116t0002g0085 others(1): Show a0002c0039t0001g0134 a0014c0068t0001g0079 a0014c0116t0002g0085 a0091c0104t0001g0016	4	152	0.0263	27	c.444 others(46): Show c.4441+3561_4441+3562insATATATATATATATATATATATATAT A	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39		chr10	TogoVar
MALRD1_chr10_19043801_19739478	19373203	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG02622.hp1 HG02896.hp1	a0019 a0062 a0019 a0062	a0019c0009 a0062c0056 a0019c0009 a0062c0056	a0019c0009t0002 a0062c0056t0002 a0019c0009t0002 a0062c0056t0002	a0019c0009t0002g0070 a0062c0056t0002g0147 a0019c0009t0002g0070 a0062c0056t0002g0147	2	152	0.0132	27	c.444 others(48): Show c.4442-14308_4442-14307insAAAAAAAAAAAAAAAAAAAAAAAA AAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39	INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547818	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0088 a0088	a0088c0107 a0088c0107	a0088c0107t0002 a0088c0107t0002	a0088c0107t0002g0020 a0088c0107t0002g0020	1	152	0.0066	27	c.547 others(48): Show c.5478+16468_5478+16469insATATATATATATATATATATATAT TTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39	INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19699277	A A	AGAAAGGA others(20): Show AGAAAGGAGGGAAAGGAGGGAAAGGAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02717.hp1 others(5): Show HG02055.hp2 HG02109.hp1 HG02717.hp1 HG03130.hp2 HG03453.hp1 NA18957.hp1 NA18981.hp1 NA19043.hp1	a0004 a0015 a0038 others(3): Show a0004 a0015 a0038 a0040 a0053 a0055	a0004c0005 a0015c0016 a0038c0042 others(3): Show a0004c0005 a0015c0016 a0038c0042 a0040c0093 a0053c0051 a0055c0074	a0004c0005t0001 a0015c0016t0001 a0015c0016t0002 others(4): Show a0004c0005t0001 a0015c0016t0001 a0015c0016t0002 a0038c0042t0001 a0040c0093t0001 a0053c0051t0002 a0055c0074t0001	a0004c0005t0001g0033 a0004c0005t0001g0034 a0015c0016t0001g0096 others(5): Show a0004c0005t0001g0033 a0004c0005t0001g0034 a0015c0016t0001g0096 a0015c0016t0002g0083 a0038c0042t0001g0023 a0040c0093t0001g0015 a0053c0051t0002g0065 a0055c0074t0001g0139	8	152	0.0526	27	c.631 others(46): Show c.6314+6748_6314+6774dupAGGGAAAGGAGGGAAAGGAGGGAAAG G	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39	INFO_REALIGN_3_PRIME	chr10	TogoVar
MALT1_chr18_58666465_58759477	58744041	A A	AATTGAGG others(20): Show AATTGAGGCATATAAATTGAGGTCATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp2 others(38): Show HG00408.hp2 HG00609.hp1 HG00673.hp2 HG01175.hp2 HG01261.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG02698.hp1 HG02735.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18971.hp1 NA18981.hp2 NA18994.hp1 NA18995.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19064.hp2 NA19068.hp1 NA19076.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0009 a0001c0001 a0002c0003 a0006c0009	a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(5): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0002c0003t0004 a0006c0009t0014	a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 others(38): Show a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0014g0048 a0001c0001t0014g0049 a0001c0001t0014g0050 a0001c0001t0014g0052 a0001c0001t0015g0026 a0001c0001t0015g0028 a0001c0001t0015g0038 a0001c0001t0015g0051 a0001c0001t0015g0055 a0001c0001t0041g0043 a0001c0001t0042g0126 a0001c0001t0043g0032 a0002c0003t0004g0023 a0002c0003t0004g0031 a0002c0003t0004g0040 a0002c0003t0004g0053 a0002c0003t0004g0054 a0002c0003t0004g0128 a0006c0009t0014g0239	41	406	0.1010	27	c.175 others(44): Show c.1754-296_1754-295insTTGAGGCATATAAATTGAGGTCATATA	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	14/16	INFO_REALIGN_3_PRIME	chr18	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG01192.hp1 others(6): Show HG00558.hp1 HG01109.hp1 HG01192.hp1 HG01261.hp2 HG02300.hp1 HG03239.hp1 HG03490.hp1 HG03834.hp1 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0018 a0003c0004t0006	a0001c0001t0002g0007 a0001c0002t0001g0210 a0001c0002t0002g0024 others(6): Show a0001c0001t0002g0007 a0001c0002t0001g0210 a0001c0002t0002g0024 a0001c0002t0003g0115 a0001c0002t0003g0150 a0001c0002t0005g0042 a0001c0002t0013g0010 a0001c0002t0018g0032 a0003c0004t0006g0141	9	230	0.0391	27	c.514 others(46): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAAA A	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4		chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	230	0.0044	27	c.513 others(46): Show c.513+42322_513+42323insATATATATATATATATATATATATAT A	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4		chr11	TogoVar
MAML3_chr4_139711753_140159184	139830410	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	152	0.0066	27	c.207 others(48): Show c.2079+58946_2079+58947insAAAAAAAAAAAAAAAAAAAAAAAA AAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4		chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150398252	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19004.hp1 NA18944.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0159 a0001c0001t0002g0160	2	226	0.0089	27	c.-64 others(46): Show c.-64+34786_-64+34812dupAGAAGAAGAAGAAGAAGAAGAAGAAG A	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150403973	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	226	0.0044	27	c.-64 others(46): Show c.-64+40468_-64+40469insAGAAGAAAGAAAGAAAGAAAGAAAGA A	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150481964	A A	AAAAGAAA others(20): Show AAAAGAAAGAAAGAAAGAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0195 a0004c0004t0003g0195	1	226	0.0044	27	c.204 others(46): Show c.2040+8181_2040+8182insAAAGAAAGAAAGAAAGAAAGAAAGAA A	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN2B2_chr4_6570189_6628362	6586053	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02717.hp2 HG02895.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0326 a0003c0015t0002g0327 a0003c0015t0002g0326 a0003c0015t0002g0327	2	362	0.0055	27	c.392 others(42): Show c.392-930_392-929insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18	INFO_REALIGN_3_PRIME	chr4	TogoVar
MANEA_chr6_95572535_95614452	95601716	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0241 a0004c0007t0005g0241	1	410	0.0024	27	c.655 others(44): Show c.655-3087_655-3086insGTTTTTTTTTTTTTTTTTTTTTTTTTT	MANEA	ENSG00000172469.17	transcript	ENST00000358812.9	protein_coding	3/4	INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP2K5_chr15_67537703_67812114	67575917	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18941.hp2 HG01071.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0161 a0001c0001t0002g0108 a0001c0001t0001g0161 a0001c0001t0002g0108	2	278	0.0072	27	c.253 others(44): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21	INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590442	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	278	0.0036	27	c.432 others(44): Show c.432-2484_432-2483insTCTCTCTCTCTCTCTCTCTCTCTCTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21		chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590446	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02056.hp1 HG03492.hp1 HG01168.hp2 HG02056.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0162 a0001c0001t0004g0066 a0001c0001t0004g0274 a0001c0001t0001g0162 a0001c0001t0004g0066 a0001c0001t0004g0274	3	278	0.0108	27	c.432 others(44): Show c.432-2480_432-2479insTCTCTCTCTCTCTCTCTCTCTCTCTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21		chr15	TogoVar
MAP2K6_chr17_69409697_69558865	69483151	T T	TGATCTCT others(20): Show TGATCTCTGTTTGTAGATAACACAAACA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	260	0.0039	27	c.17- others(44): Show c.17-22610_17-22584dupACACAAACAGATCTCTGTTTGTAGATA	MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding	1/11	INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K6_chr17_69409697_69558865	69491730	G G	GTTATTAT others(20): Show GTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	260	0.0039	27	c.17- others(44): Show c.17-14024_17-14023insATTATTATTATTATTATTATTATTATT	MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding	1/11	INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K13_chr3_185358136_185494094	185454401	T T	TATATGAG others(20): Show TATATGAGATATATATGATATATATGAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	278	0.0036	27	c.127 others(46): Show c.1278+3010_1278+3011insGAGATATATATGATATATATGAGATA T	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455652	T T	TGTCATAT others(20): Show TGTCATATATATCTCATGTATATATCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0105 a0001c0001t0016g0105	1	278	0.0036	27	c.127 others(46): Show c.1278+4257_1278+4258insGTCATATATATCTCATGTATATATCT C	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19469976	T T	TGTGGAAG others(20): Show TGTGGAAGTCAGTGTGGCGATTCCTCAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	163	0.0061	27	c.526 others(44): Show c.526-5597_526-5571dupCTGAGGAATCGCCACACTGACTTCCAC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28		chrX	TogoVar
MAP3K19_chr2_134959491_135052447	134997817	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01070.hp2 others(27): Show HG00544.hp1 HG00639.hp1 HG01070.hp2 HG01243.hp2 HG01993.hp2 HG02135.hp2 HG02155.hp1 HG02451.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18942.hp2 NA18960.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18993.hp1 NA20905.hp1 NA21309.hp1	a0001 a0008 a0012 others(2): Show a0001 a0008 a0012 a0017 a0026	a0001c0002 a0001c0018 a0008c0011 others(3): Show a0001c0002 a0001c0018 a0008c0011 a0012c0014 a0017c0026 a0026c0036	a0001c0002t0001 a0001c0002t0002 a0001c0018t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0018t0001 a0008c0011t0001 a0008c0011t0002 a0012c0014t0003 a0017c0026t0001 a0026c0036t0003	a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0025 others(27): Show a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0132 a0001c0002t0001g0140 a0001c0002t0001g0184 a0001c0002t0001g0202 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0223 a0001c0002t0001g0227 a0001c0002t0001g0248 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0321 a0001c0002t0001g0325 a0001c0002t0002g0328 a0001c0018t0001g0143 a0008c0011t0001g0309 a0008c0011t0002g0175 a0012c0014t0003g0069 a0012c0014t0003g0181 a0017c0026t0001g0029 a0026c0036t0003g0263	30	334	0.0898	27	c.574 others(42): Show c.574+920_574+921insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	8/12		chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0262 a0001c0008t0001g0262	1	334	0.0030	27	c.160 others(46): Show c.160-35376_160-35375insATATATATATATATATATTTTTTTTT T	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19	INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0070 a0001c0008t0001g0070	1	334	0.0030	27	c.160 others(46): Show c.160-35376_160-35375insATATATATATATATTTTTTTTTTTTT T	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19	INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0068 a0001c0004t0002g0068	1	334	0.0030	27	c.160 others(46): Show c.160-35376_160-35375insATATATATATATTTTTTTTTTTTTTT T	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19	INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K5_chr6_136552046_136797477	136737057	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	162	0.0062	27	c.449 others(46): Show c.449-16469_449-16468insATATATATATATATATATATATATAT A	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29		chr6	TogoVar

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