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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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
MMRN2_chr10_86930540_86962615	86931298	C C	CACACATA others(31): Show CACACATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	382	0.0026	38	c.54 others(49): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT GTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MNAT1_chr14_60729761_60974965	60918735	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19078.hp2 NA18971.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0015 a0001c0001t0003g0018	2	272	0.0074	38	c.809 others(57): Show c.809+38922_809+38923insATATATATATATATATATATATATAT ATATATATATAT	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp2 NA19075.hp2 HG01256.hp1 HG01257.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0220 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0220	3	414	0.0073	38	c.226 others(55): Show c.226-3489_226-3488insATATATATATATATATATATATTTTTTT TTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02165.hp1 HG02257.hp2 HG02027.hp2 HG02165.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0171 a0001c0001t0001g0187 a0002c0002t0003g0043 a0001c0001t0001g0171 a0001c0001t0001g0187 a0002c0002t0003g0043	3	414	0.0073	38	c.226 others(55): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	414	0.0024	38	c.226 others(55): Show c.226-3489_226-3488insATATATATATATATATATATATATATTT TTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	414	0.0024	38	c.226 others(55): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOCOS_chr18_36182497_36277157	36262250	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04204.hp1 HG01978.hp1 HG04204.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0085 a0003c0003t0003 a0001c0001t0085 a0003c0003t0003	a0001c0001t0085g0010 a0003c0003t0003g0353 a0001c0001t0085g0010 a0003c0003t0003g0353	2	358	0.0056	38	c.240 others(57): Show c.2409+2101_2409+2102insACACACACACACACACACACACACAC ACACACACACAC	MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MON2_chr12_62461826_62605476	62534545	A A	ATATATAT others(31): Show ATATATATATATTTTATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0138 a0002c0001t0001g0138	1	368	0.0027	38	c.163 others(55): Show c.1634-289_1634-288insTTTATATATATATATATATATATATTTT ATATATATAT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MORC1_chr3_108953248_109123134	108996286	G G	GCGCGCGC others(31): Show GCGCGCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0293 a0002c0002t0002g0293	1	294	0.0034	38	c.218 others(57): Show c.2187+4270_2187+4271insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGCGCGCG	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	21/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(31): Show AAAGAAAGAAAGAAAGAAGAAGAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	294	0.0034	38	c.133 others(57): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCTCTTCTTCTT TCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORN1_chr1_2316253_2396554	2323770	C C	CCTCGGCT others(31): Show CCTCGGCTCCCCTTGGACCCCAAGGCCTCCGAGTCCCCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	80	0.0125	38	c.129 others(55): Show c.1297+289_1297+326dupCGGGGACTCGGAGGCCTTGGGGTCCAAG GGGAGCCGAG	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	13/13			chr1	TogoVar
MORN1_chr1_2316253_2396554	2327239	C C	CACACAGA others(31): Show CACACAGAAACACACAGAAACACAGAAACAAACACAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01070.hp1 others(4): Show HG00323.hp2 HG00544.hp2 HG01070.hp1 HG02451.hp2 HG03834.hp1 HG04228.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0002g0068	7	80	0.0875	38	c.125 others(57): Show c.1251-3134_1251-3097dupCTCTGTGTTTGTTTCTGTGTTTCTGT GTGTTTCTGTGT	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	12/13			chr1	TogoVar
MOSMO_chr16_22003111_22089654	22023997	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19080.hp1 NA20300.hp1 HG03139.hp2 NA19080.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0001g0060 a0001c0001t0003g0074 a0001c0001t0003g0079	3	306	0.0098	38	c.106 others(57): Show c.106+15609_106+15610insATATATATATATATATATATATATAT ATATATATATAT	MOSMO	ENSG00000185716.12	transcript	ENST00000542527.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPHOSPH9_chr12_123149215_123238141	123224110	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0213 a0002c0003t0002g0213	1	266	0.0038	38	c.259 others(53): Show c.259-984_259-983insTATATATATATATATATATATATATATATA TATATAAA	MPHOSPH9	ENSG00000051825.15	transcript	ENST00000606320.6	protein_coding	3/23			chr12	TogoVar
MPPED1_chr22_43407014_43512848	43432761	A A	AAGAGAAA others(31): Show AAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	250	0.0040	38	c.225 others(55): Show c.225-2212_225-2175dupGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497929	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19064.hp1 HG01069.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0007 a0001c0001t0003 a0001c0002t0007	a0001c0001t0003g0121 a0001c0002t0007g0214 a0001c0001t0003g0121 a0001c0002t0007g0214	2	250	0.0080	38	c.633 others(53): Show c.633-301_633-300insATATATATATATATATATATATATACATAT ATATATAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497929	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATACATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	250	0.0040	38	c.633 others(53): Show c.633-301_633-300insATATATATATATATATATATATATATACAT ATATATAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497929	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0027 a0001c0002t0005g0027	1	250	0.0040	38	c.633 others(53): Show c.633-301_633-300insATATATATATATATATATATATATATATAT ATATATAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497929	G G	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0241 a0001c0003t0002g0241	1	250	0.0040	38	c.633 others(53): Show c.633-303_633-302insGTATATATATATATATATATATATATATAT ATATATAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497929	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	250	0.0040	38	c.633 others(53): Show c.633-305_633-304insGTATATATATATATATATATATATATATAT ATATATAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPRIP_chr17_17037457_17197643	17088870	A A	AAATGTTC others(31): Show AAATGTTCTTTATGGTGGGGAAAACTCTCTGAACCCGGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0026 a0005c0004t0026	a0005c0004t0026g0291 a0005c0004t0026g0291	1	314	0.0032	38	c.267 others(57): Show c.267+10795_267+10832dupAATGTTCTTTATGGTGGGGAAAACTC TCTGAACCCGGG	MPRIP	ENSG00000133030.22	transcript	ENST00000651222.2	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
MREG_chr2_215937584_216018551	215975008	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0042 a0001c0001t0015g0042	1	416	0.0024	38	c.255 others(57): Show c.255+21297_255+21298insTATATATATATATATATATATATATA TATATATATATA	MREG	ENSG00000118242.17	transcript	ENST00000263268.11	protein_coding	2/4			chr2	TogoVar
MRGPRG_chr11_3212944_3223813	3216860	T T	TTTCTTTC others(31): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	426	0.0024	38	c.10 others(49): Show c.1083_*1084insGAAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1083		chr11	TogoVar
MROH1_chr8_144143016_144266926	144181278	A A	AGTGATGG others(31): Show AGTGATGGGGGAGGGGCCCGGTGATGGGGGAGGGGCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02300.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02300.hp1 HG03471.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0017 a0002c0004 a0002c0015 others(1): Show a0001c0017 a0002c0004 a0002c0015 a0009c0009	a0001c0017t0001 a0002c0004t0001 a0002c0015t0001 others(1): Show a0001c0017t0001 a0002c0004t0001 a0002c0015t0001 a0009c0009t0001	a0001c0017t0001g0056 a0002c0004t0001g0010 a0002c0004t0001g0012 others(3): Show a0001c0017t0001g0056 a0002c0004t0001g0010 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0015t0001g0039 a0009c0009t0001g0051	6	140	0.0429	38	c.562 others(53): Show c.562+791_562+792insCGGTGATGGGGGAGGGGCCCGGTGATGGGG GAGGGGCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03579.hp1 HG01123.hp2 HG03579.hp1	a0021 a0051 a0021 a0051	a0021c0072 a0051c0074 a0021c0072 a0051c0074	a0021c0072t0001 a0051c0074t0001 a0021c0072t0001 a0051c0074t0001	a0021c0072t0001g0350 a0051c0074t0001g0198 a0021c0072t0001g0350 a0051c0074t0001g0198	2	396	0.0051	38	c.757 others(53): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41			chr5	TogoVar
MRPL14_chr6_44108451_44132452	44127168	A A	ACCCCCCT others(31): Show ACCCCCCTCCCCGTCGGGACCCCCCTCCCCGTCGGGACC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18939.hp2 NA19011.hp1 others(1): Show HG03704.hp2 NA18939.hp2 NA19011.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0044 a0001c0002t0002g0155 a0001c0002t0002g0156	4	436	0.0092	38	c.-19 others(53): Show c.-19+175_-19+176insGGTCCCGACGGGGAGGGGGGTCCCGACGGG GAGGGGGG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL17_chr11_6675385_6688340	6687696	A A	AAGTTTGA others(31): Show AAGTTTGAGCCTTGCCAGGTCAATACTGGGTGGTGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	416	0.0024	38	c.-44 others(49): Show c.-4401_-4400insCATTCACCACCCAGTATTGACCTGGCAAGGCTCA AACT	MRPL17	ENSG00000158042.9	transcript	ENST00000288937.7	protein_coding		4357		chr11	TogoVar
MRPL41_chr9_137546879_137557555	137551649	C C	CGCGCCGC others(31): Show CGCGCCGCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	38	c.-33 others(47): Show c.-338_-337insGCGCCGCGCGAGCCCCGCCCCGCGAGCCCCGCCCCG CG	MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding		229		chr9	TogoVar
MRPL45_chr17_38292168_38328211	38313319	T T	TATATATA others(31): Show TATATATATATATATATACGTATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0201 a0001c0004t0001g0201	1	287	0.0035	38	c.462 others(55): Show c.462-5355_462-5354insTATACGTATATATATATATATATACATA TATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL45_chr17_38292168_38328211	38313335	T T	TACGTATA others(31): Show TACGTATATATATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	287	0.0035	38	c.462 others(55): Show c.462-5351_462-5350insCGTATATATATATATATATATACATATA TATATATACA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp2 HG03669.hp1 others(6): Show HG00438.hp1 HG02165.hp2 HG03669.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp1 NA19000.hp1 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0236 a0001c0001t0001g0237 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0264	9	404	0.0223	38	c.48+ others(53): Show c.48+1416_48+1417insACACACACACACACACTCTCTCTCTCTCTC TCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01943.hp1 HG02602.hp1 others(5): Show HG00423.hp1 HG01943.hp1 HG02602.hp1 HG02622.hp1 NA18967.hp2 NA18984.hp2 NA19006.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0007 a0001c0001t0001g0215 a0001c0001t0001g0216	8	404	0.0198	38	c.48+ others(53): Show c.48+1416_48+1417insACACACACACACACACACTCTCTCTCTCTC TCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01934.hp1 HG01934.hp2 others(5): Show HG00323.hp1 HG01934.hp1 HG01934.hp2 HG04204.hp1 NA18953.hp1 NA18954.hp2 NA19060.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0004t0001g0194 a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0004t0001g0194	8	404	0.0198	38	c.48+ others(53): Show c.48+1416_48+1417insACACACACACACACACACACTCTCTCTCTC TCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG01943.hp2 others(10): Show HG01192.hp2 HG01433.hp2 HG01943.hp2 HG02074.hp2 HG03491.hp1 NA18947.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18972.hp2 NA18973.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0173 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176	13	404	0.0322	38	c.48+ others(53): Show c.48+1416_48+1417insACACACACACACACACACACACTCTCTCTC TCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03688.hp2 NA18945.hp1 others(6): Show HG01167.hp1 HG03688.hp2 NA18945.hp1 NA18975.hp2 NA18983.hp2 NA18994.hp1 NA19003.hp1 NA19077.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0159 a0001c0001t0001g0160 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	9	404	0.0223	38	c.48+ others(53): Show c.48+1416_48+1417insACACACACACACACACACACACACTCTCTC TCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04204.hp2 HG00544.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	404	0.0050	38	c.48+ others(53): Show c.48+1416_48+1417insACACACACACACACACACACACACACTCTC TCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS18A_chr6_43666202_43692791	43691968	G G	GAGATTCC others(31): Show GAGATTCCTCCCCAACCCATTACACGACACGACACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	380	0.0026	38	c.-41 others(49): Show c.-4190_-4189insTGAGGTGTCGTGTCGTGTAATGGGTTGGGGAGGA ATCT	MRPS18A	ENSG00000096080.12	transcript	ENST00000372133.8	protein_coding		4178		chr6	TogoVar
MRPS9_chr2_105033069_105104960	105084247	A A	AATATAGA others(31): Show AATATAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0154 a0002c0005t0001g0154	1	394	0.0025	38	c.489 others(55): Show c.489+4190_489+4191insGATATATATATATATATATATATATATA TATATATATA	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105084247	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18988.hp2 HG02559.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0232 a0001c0001t0001g0207 a0001c0001t0001g0232	2	394	0.0051	38	c.489 others(55): Show c.489+4207_489+4208insATATATATATATATATATATATATATAT ATATATATAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSANTD2_chr11_124761498_124805406	124785745	T T	TATATATA others(31): Show TATATATATTAAGATATATGTATCTTATGTATATATTAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	324	0.0031	38	c.511 others(57): Show c.511-10809_511-10772dupGTAATATATACATAAGATACATATAT CTTAATATATAT	MSANTD2	ENSG00000120458.13	transcript	ENST00000374979.8	protein_coding	1/3			chr11	TogoVar
MSANTD5_chr5_178689572_178702761	178701357	T T	TTTAAAAC others(31): Show TTTAAAACTGAACACCCAGCTGGGCATCGTGGCTCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	430	0.0023	38	c.-37 others(49): Show c.-3767_-3766insGCGTGAGCCACGATGCCCAGCTGGGTGTTCAGTT TTAA	MSANTD5	ENSG00000285891.2	transcript	ENST00000648368.2	protein_coding		3597		chr5	TogoVar
MSH4_chr1_75791882_75918242	75854013	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19083.hp1 NA20905.hp2 HG02040.hp1 NA19083.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0241 a0001c0001t0001g0249 a0008c0012t0001g0256 a0001c0001t0001g0241 a0001c0001t0001g0249 a0008c0012t0001g0256	3	332	0.0090	38	c.123 others(57): Show c.1230+5752_1230+5753insATATATATATATATATATATATATAT ATATATATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75907684	C C	CTCTCTCT others(31): Show CTCTCTCTCTACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0082 a0005c0006t0001g0082	1	332	0.0030	38	c.262 others(57): Show c.2620-5011_2620-5010insCTCTCTCTACATATATATATATATAT ATATATATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH5_chr6_31735005_31767676	31765674	C C	CAGCCCTG others(31): Show CAGCCCTGCCTTGAGTCACCAATGTGAAGGGGGAAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	1	397	0.0025	38	c.31 others(49): Show c.3143_*3144insAGCCCTGCCTTGAGTCACCAATGTGAAGGGGGAA AAGG	MSH5	ENSG00000204410.16	transcript	ENST00000375750.9	protein_coding		2999		chr6	TogoVar
MSL1_chr17_40116971_40141917	40140357	C C	CACCAACA others(31): Show CACCAACACACACACCAACACACACACACACACACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0057 a0001c0002t0003g0057	1	356	0.0028	38	c.59 others(49): Show c.5988_*5989insACCAACACACACACCAACACACACACACACACAC CCCA	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3441		chr17	TogoVar
MSLN_chr16_755734_773862	767867	A A	AGGGGCGC others(31): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	388	0.0026	38	c.159 others(55): Show c.1596+411_1596+412insGGGCCGTGTGGGGGGGCGTGGAGGGGGG CGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRA_chr8_10049292_10433891	10155000	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01975.hp1 others(4): Show HG00558.hp2 HG00609.hp2 HG01975.hp1 HG01978.hp1 HG02074.hp1 NA18971.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0229 a0001c0001t0003g0100 a0001c0001t0003g0132 others(4): Show a0001c0001t0001g0229 a0001c0001t0003g0100 a0001c0001t0003g0132 a0001c0001t0003g0228 a0001c0001t0003g0238 a0001c0001t0008g0110 a0001c0002t0002g0174	7	286	0.0245	38	c.143 others(57): Show c.143-52832_143-52831insATATATATATATATATATATATATAT ATATATATATAT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10155002	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02486.hp1 others(2): Show HG02055.hp1 HG02451.hp2 HG02486.hp1 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0095 a0001c0001t0001g0206 a0001c0001t0004g0029 others(2): Show a0001c0001t0001g0095 a0001c0001t0001g0206 a0001c0001t0004g0029 a0001c0001t0007g0076 a0001c0002t0002g0208	5	286	0.0175	38	c.143 others(57): Show c.143-52819_143-52818insTATATATATATATATATATATATATA TATATATATATA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(31): Show ACACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG02572.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0010 a0001c0001t0009g0038 a0001c0001t0001g0010 a0001c0001t0009g0038	2	286	0.0070	38	c.332 others(57): Show c.332-18373_332-18372insACACACACACACACACACACTCTCTC TCTCTCTCTCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(31): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19010.hp2 NA18970.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0008g0219 a0001c0002t0002g0276 a0001c0001t0008g0219 a0001c0002t0002g0276	2	286	0.0070	38	c.332 others(57): Show c.332-18373_332-18372insACACACACACACTCTCTCTCTCTCTC TCTCTCTCTCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar

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