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 (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MAP4K4_chr2_101692707_101899690	101826333	G G	GTTTTTAA others(15): Show GTTTTTAAAACTAGTTTAAAAAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG00733.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0018 a0001c0001t0001g0048	2	310	0.0065	22	c.417 others(37): Show c.417+904_417+905insTTTTTAAAACTAGTTTAAAAAC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	5/32			chr2	TogoVar
MAP4K5_chr14_50413521_50537569	50490159	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	240	0.0042	22	c.167 others(39): Show c.167-3966_167-3965insTACACACACACACACACACACA	MAP4K5	ENSG00000012983.12	transcript	ENST00000682126.1	protein_coding	3/32			chr14	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02015.hp2 NA18747.hp1 others(11): Show HG00099.hp2 HG02015.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18961.hp1 NA18963.hp2 NA18999.hp2 NA19079.hp1 NA19082.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0025 others(11): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0025 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0052 a0002c0002t0002g0118 a0002c0002t0004g0003 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0004g0017 a0002c0002t0004g0019	14	232	0.0603	22	c.223 others(39): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP6_chr11_75581918_75674038	75673386	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG02109.hp2 others(7): Show HG00735.hp1 HG01433.hp1 HG02109.hp2 HG02145.hp2 HG03516.hp1 HG04199.hp1 NA18952.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0011 a0001c0001 a0001c0004 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0008c0011t0001	a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0133 others(7): Show a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0337 a0001c0004t0001g0003 a0001c0004t0001g0158 a0008c0011t0001g0155	10	390	0.0256	22	c.-50 others(33): Show c.-5018_-5017insAAAAAAAAAAAAAAAAAAAAAA	MAP6	ENSG00000171533.12	transcript	ENST00000304771.8	protein_coding		4349		chr11	TogoVar
MAP7D2_chrX_20001713_20121907	20094492	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0006 a0004c0011t0006	a0004c0011t0006g0004 a0004c0011t0006g0004	1	210	0.0048	22	c.130 others(41): Show c.130+22257_130+22258insCATATATATATATATATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAP7_chr6_136337734_136555422	136381877	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02132.hp2 HG01123.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0089 a0001c0001t0004g0067 a0001c0001t0004g0089	2	248	0.0081	22	c.637 others(39): Show c.637+1772_637+1793dupGTGTGTGTGTGTGTGTGTGTGT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	6/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136381919	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	248	0.0040	22	c.637 others(39): Show c.637+1751_637+1752insCTGTGTGTGTGTGTGTGTGTGT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	6/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136394931	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	248	0.0040	22	c.245 others(39): Show c.245-5436_245-5415dupATATATATATATATATATATAT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	3/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136414252	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19002.hp2 HG01258.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0092 a0001c0001t0001g0136	2	248	0.0081	22	c.167 others(39): Show c.167-2577_167-2556dupTTTTTTTTTTTTTTTTTTTTTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	2/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136505273	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	248	0.0040	22	c.67+ others(39): Show c.67+45068_67+45069insTATATATATATATATATATATA	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136505275	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02280.hp2 HG01257.hp1 HG02280.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0217 a0003c0003t0003g0031 a0002c0002t0002g0217 a0003c0003t0003g0031	2	248	0.0081	22	c.67+ others(39): Show c.67+45066_67+45067insTATATATATATATATATATATA	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136505277	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03041.hp1 HG01358.hp1 HG03041.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0003 a0006c0006t0006 a0002c0002t0003 a0006c0006t0006	a0002c0002t0003g0085 a0006c0006t0006g0181 a0002c0002t0003g0085 a0006c0006t0006g0181	2	248	0.0081	22	c.67+ others(39): Show c.67+45043_67+45064dupTATATATATATATATATATATA	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136505277	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02040.hp2 NA18961.hp1 others(2): Show HG01123.hp2 HG02040.hp2 NA18961.hp1 NA18964.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0001c0001t0001 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0063 a0001c0001t0004g0064 a0001c0001t0004g0081 others(2): Show a0001c0001t0001g0063 a0001c0001t0004g0064 a0001c0001t0004g0081 a0001c0001t0004g0089 a0002c0002t0002g0062	5	248	0.0202	22	c.67+ others(39): Show c.67+45064_67+45065insTATATATATATATATATATACA	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK10_chr4_86005405_86365053	86023812	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	170	0.0059	22	c.125 others(41): Show c.1252+5363_1252+5384dupATATATATATATATATATATAT	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	13/13			chr4	TogoVar
MAPK10_chr4_86005405_86365053	86195395	T T	TTTTTATG others(15): Show TTTTTATGTTATGTGTTAACATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG02630.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0007 a0001c0001t0033g0154 a0001c0001t0033g0007 a0001c0001t0033g0154	2	170	0.0118	22	c.-6- others(35): Show c.-6-989_-6-988insTATGTTAACACATAACATAAAA	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	2/13			chr4	TogoVar
MAPK10_chr4_86005405_86365053	86359288	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCCCTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0162 a0001c0001t0028g0162	1	170	0.0059	22	c.-12 others(39): Show c.-122+369_-122+370insCACACAGGGAGAGAGAGAGAGA	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	1/13			chr4	TogoVar
MAPK14_chr6_36022808_36116236	36065507	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 NA19007.hp2 others(1): Show HG00642.hp1 HG00642.hp2 NA19007.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0004g0023 a0001c0001t0004g0024 others(1): Show a0001c0001t0001g0087 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0042	4	342	0.0117	22	c.305 others(39): Show c.305+6179_305+6200dupGTGTGTGTGTGTGTGTGTGTGT	MAPK14	ENSG00000112062.12	transcript	ENST00000229794.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAPK3_chr16_30109105_30128220	30110860	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA21309.hp2 HG02886.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0003g0017 a0001c0001t0001g0098 a0001c0001t0003g0017	2	388	0.0052	22	c.38 others(33): Show c.3880_*3881insTTTTTTTTTTTTTTTTTTTTTT	MAPK3	ENSG00000102882.12	transcript	ENST00000263025.9	protein_coding		3244		chr16	TogoVar
MAPK6_chr15_52014219_52072375	52014703	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0035 a0001c0002t0020g0035	1	356	0.0028	22	c.-53 others(33): Show c.-5305_-5304insAAAAAAAAAAAAAAAAAAAAAA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		4515		chr15	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCGC others(15): Show GCGCGCGCAAACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0042 a0001c0002t0053g0042	1	356	0.0028	22	c.-39 others(33): Show c.-3938_-3937insCGCGCGCAAACACACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCGC others(15): Show GCGCGCGCGCAAACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0043 a0001c0002t0029g0043	1	356	0.0028	22	c.-39 others(33): Show c.-3938_-3937insCGCGCGCGCAAACACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCGC others(15): Show GCGCGCGCGCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0266 a0001c0001t0031g0266	1	356	0.0028	22	c.-39 others(33): Show c.-3938_-3937insCGCGCGCGCGCGCACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK6_chr15_52014219_52072375	52066792	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0156 a0001c0001t0046g0156	1	356	0.0028	22	c.17 others(33): Show c.1793_*1794insGTGTGTGTGTGTGTGTGTGTAT	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding	6/6	1794	INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPK8IP2_chr22_50595793_50618978	50614903	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0006 a0001c0003t0006g0006	1	436	0.0023	22	c.41 others(33): Show c.4124_*4125insAAAAAAAAAAAAAAAAAAAAAA	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding		926		chr22	TogoVar
MAPK8IP3_chr16_1701195_1775351	1736179	C C	CGTGTGAC others(15): Show CGTGTGACCGTCCGTGTGAGCAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG03130.hp2 others(1): Show HG02622.hp2 HG02717.hp1 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0295	4	330	0.0121	22	c.602 others(39): Show c.602+6610_602+6631dupGTCCGTGTGAGCATGTGTGACC	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPKAP1_chr9_125432394_125712208	125519652	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01981.hp1 HG01993.hp1 others(3): Show HG01255.hp2 HG01981.hp1 HG01993.hp1 NA18994.hp1 NA19054.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0278 others(3): Show a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0295 a0001c0001t0001g0297	6	300	0.0200	22	c.959 others(41): Show c.959-13236_959-13235insTATATATATATATATATATATA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	7/11			chr9	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691482	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG02109.hp1 others(13): Show HG00738.hp2 HG01192.hp2 HG02109.hp1 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp2 HG03225.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp1 NA18997.hp1 NA19012.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0004t0001 a0002c0005t0001 a0003c0007t0001	a0001c0001t0001g0311 a0001c0001t0002g0136 a0001c0001t0002g0137 others(13): Show a0001c0001t0001g0311 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0003g0117 a0001c0001t0003g0140 a0001c0001t0007g0310 a0001c0001t0016g0309 a0001c0004t0001g0032 a0001c0004t0001g0034 a0001c0004t0001g0036 a0002c0005t0001g0341 a0003c0007t0001g0031 a0003c0007t0001g0033 a0003c0007t0001g0035	16	382	0.0419	22	c.279 others(39): Show c.279+5976_279+5997dupTATATATATATATATATATATA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691502	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG03195.hp1 HG02723.hp2 HG02976.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0156 a0002c0003t0004g0163 a0002c0003t0004g0164 a0002c0003t0004g0156 a0002c0003t0004g0163 a0002c0003t0004g0164	3	382	0.0079	22	c.279 others(39): Show c.279+5997_279+5998insTATATATATATATATATACATA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691504	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01346.hp1 others(5): Show HG00438.hp1 HG00544.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG02155.hp1 HG02486.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0279 a0001c0001t0003g0022 a0001c0001t0003g0278 others(4): Show a0001c0001t0002g0279 a0001c0001t0003g0022 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283	8	382	0.0209	22	c.279 others(39): Show c.279+5997_279+5998insTATATATATATATATATATACA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206712962	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18995.hp2 NA18985.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0061 a0001c0002t0001g0254 a0001c0001t0008g0061 a0001c0002t0001g0254	2	382	0.0052	22	c.280 others(41): Show c.280-15726_280-15705dupACACACACACACACACACACAC	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK5_chr12_111837228_111907222	111881402	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0218 a0001c0001t0011g0218	1	352	0.0028	22	c.660 others(37): Show c.660+875_660+876insTTTTTTTTTTTTTTTTTTTTTT	MAPKAPK5	ENSG00000089022.15	transcript	ENST00000550735.7	protein_coding	8/13			chr12	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0020 a0021c0029t0020	a0021c0029t0020g0054 a0021c0029t0020g0054	1	328	0.0031	22	c.114 others(41): Show c.114+11389_114+11390insAAAAAAAATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18747.hp1 NA18971.hp2 HG01952.hp2 NA18747.hp1 NA18971.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0004c0006t0002 a0002c0002t0002 a0004c0006t0002	a0002c0002t0002g0230 a0002c0002t0002g0249 a0004c0006t0002g0214 a0002c0002t0002g0230 a0002c0002t0002g0249 a0004c0006t0002g0214	3	328	0.0092	22	c.114 others(41): Show c.114+11389_114+11390insAAAATATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03041.hp2 homoSapiens_chm13v2.hp1 HG01074.hp1 HG03041.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0115 a0002c0002t0002g0235 a0002c0002t0002g0250 a0001c0001t0005g0115 a0002c0002t0002g0235 a0002c0002t0002g0250	3	328	0.0092	22	c.114 others(41): Show c.114+11389_114+11390insAATATATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPRE2_chr18_35036413_35148470	35057507	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00639.hp2 others(23): Show HG00408.hp2 HG00621.hp2 HG00639.hp2 HG01167.hp1 HG01346.hp1 HG01975.hp1 HG02027.hp2 HG02083.hp1 HG02165.hp2 HG02293.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18953.hp2 NA18964.hp1 NA18975.hp2 NA18990.hp2 NA18999.hp1 NA19001.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19085.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0022 a0001c0004t0004 a0001c0001t0004 a0001c0001t0022 a0001c0004t0004	a0001c0001t0004g0002 a0001c0001t0004g0059 a0001c0001t0004g0060 others(21): Show a0001c0001t0004g0002 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0022g0061 a0001c0004t0004g0089	26	370	0.0703	22	c.123 others(41): Show c.123-12685_123-12664dupGTGTGTGTGTGTGTGTGTGTGT	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPRE3_chr2_26965637_27032219	26995780	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18991.hp2 NA18951.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0080 a0001c0001t0001g0108	2	258	0.0078	22	c.-8+ others(39): Show c.-8+25007_-8+25028dupGTGTGTGTGTGTGTGTGTGTGT	MAPRE3	ENSG00000084764.12	transcript	ENST00000233121.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPRE3_chr2_26965637_27032219	26995825	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	258	0.0039	22	c.-8+ others(39): Show c.-8+25028_-8+25029insGTGTGTGTGTGTGTGTATGTGT	MAPRE3	ENSG00000084764.12	transcript	ENST00000233121.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPT_chr17_45889554_46033334	45922486	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01071.hp1 others(1): Show HG00099.hp2 HG01070.hp1 HG01071.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0003t0019	a0001c0001t0001g0216 a0001c0001t0002g0046 a0002c0002t0001g0045 others(1): Show a0001c0001t0001g0216 a0001c0001t0002g0046 a0002c0002t0001g0045 a0002c0003t0019g0044	4	253	0.0158	22	c.-18 others(41): Show c.-18+27812_-18+27833dupCACACACACACACACACACACA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0008 a0003c0004t0004g0008	1	253	0.0040	22	c.-17 others(41): Show c.-17-15705_-17-15704insAAAAAAAAAATATATATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0021 a0003c0004t0004g0021	1	253	0.0040	22	c.-17 others(41): Show c.-17-15705_-17-15704insAAAAAAAATATATATATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62738060	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	280	0.0036	22	c.536 others(37): Show c.536-750_536-729dupTGTGTGTGTGTGTGTGTGTGTG	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	5/10			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163590057	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	102	0.0098	22	c.101 others(41): Show c.1011-4150_1011-4129dupACACACACACACACACACACAC	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	7/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163599297	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0066 a0001c0001t0014g0066	1	102	0.0098	22	c.101 others(43): Show c.1010+12973_1010+12974insTATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	7/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733193	A A	ATATATAT others(15): Show ATATATATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0045 a0002c0003t0005g0045	1	102	0.0098	22	c.112 others(41): Show c.112-32331_112-32330insCACGTGTATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733197	A A	ATATATAT others(15): Show ATATATATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	102	0.0098	22	c.112 others(41): Show c.112-32335_112-32334insCACGTGTATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733258	T T	TATACACA others(15): Show TATACACATGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	102	0.0098	22	c.112 others(41): Show c.112-32396_112-32395insGTGTATATATATACATGTGTAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163866466	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02523.hp2 NA19088.hp1 others(1): Show HG02027.hp2 HG02523.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0004g0090	4	102	0.0392	22	c.-38 others(41): Show c.-38-12298_-38-12297insTATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163986249	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02735.hp2 HG02559.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0023 a0001c0001t0009 a0001c0001t0023	a0001c0001t0009g0033 a0001c0001t0023g0093 a0001c0001t0009g0033 a0001c0001t0023g0093	2	102	0.0196	22	c.-39 others(39): Show c.-39+2230_-39+2251dupAAAAAAAAAAAAAAAAAAAAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164176970	C C	CCATATAT others(15): Show CCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	102	0.0098	22	c.-32 others(43): Show c.-322-65309_-322-65308insTATATATATATATATATATATG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164211331	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	102	0.0098	22	c.-32 others(43): Show c.-322-99670_-322-99669insTATATATATATATATATATACA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar

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