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
MNAT1_chr14_60729761_60974965	60841381	A A	ATTGTGTG others(27): Show ATTGTGTGTGTTTTTAACACATACAACACATAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG02280.hp1 others(4): Show HG00621.hp2 HG01109.hp1 HG02280.hp1 HG02615.hp1 HG02895.hp1 HG02970.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0108 a0001c0001t0001g0156 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0003g0019	7	272	0.0257	34	c.687 others(53): Show c.687+22585_687+22618dupCACATACAACACATAAAGTTGTGTGT GTTTTTAA	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MND1_chr4_153339688_153420118	153408914	A A	ATATATAT others(27): Show ATATATATATATATATATATAAATACATTTCATTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	342	0.0029	34	c.467 others(47): Show c.467-46_467-13dupTATATATATAAATACATTTCATTTTATATATA TA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	414	0.0024	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATTTTTTTTT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	414	0.0024	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATATTTTTTT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02735.hp1 HG03486.hp1 others(1): Show HG01123.hp1 HG02735.hp1 HG03486.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0169 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0209	4	414	0.0097	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	414	0.0024	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOB1B_chr4_70897369_70993168	70989256	A A	ATAATTGA others(27): Show ATAATTGAAAAATATGGGCTATAGTTCTCAAAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA19084.hp1 NA18992.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0256 a0001c0001t0005g0206 a0001c0001t0005g0256	2	284	0.0070	34	c.71 others(45): Show c.7199_*7200insTAATTGAAAAATATGGGCTATAGTTCTCAAAGGT	MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding		1089		chr4	TogoVar
MOB2_chr11_1464457_1491779	1466268	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19009.hp2 NA18986.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0010 a0001c0001t0001g0082	2	426	0.0047	34	c.39 others(45): Show c.3903_*3904insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MOB2	ENSG00000182208.15	transcript	ENST00000329957.7	protein_coding		3188		chr11	TogoVar
MOCOS_chr18_36182497_36277157	36262250	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02155.hp2 others(9): Show HG01257.hp2 HG01258.hp2 HG02155.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03704.hp1 NA18993.hp2 NA18998.hp1 NA19006.hp2 NA19070.hp2 NA19082.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0020	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0020c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0005c0005t0018 a0020c0036t0015	a0001c0001t0002g0164 a0001c0001t0003g0260 a0001c0001t0010g0137 others(9): Show a0001c0001t0002g0164 a0001c0001t0003g0260 a0001c0001t0010g0137 a0001c0001t0010g0144 a0001c0001t0013g0200 a0001c0001t0019g0117 a0002c0002t0002g0240 a0002c0002t0003g0053 a0003c0003t0002g0346 a0005c0005t0018g0097 a0005c0005t0018g0101 a0020c0036t0015g0218	12	358	0.0335	34	c.240 others(53): Show c.2409+2101_2409+2102insACACACACACACACACACACACACAC ACACACAC	MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MOCS1_chr6_39899170_39939462	39921137	T T	TGCCTGTA others(27): Show TGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	272	0.0037	34	c.418 others(51): Show c.418+4507_418+4540dupCGCCTCGGCCTCCCAAAGTGCTAGGATT ACAGGC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	3/10			chr6	TogoVar
MON1B_chr16_77186190_77207398	77200291	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0002 a0001c0002t0066g0002	1	440	0.0023	34	c.19 others(45): Show c.1984_*1985insTATATATATATATATATATATATATATATATACA	MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding	6/6	1985	INFO_REALIGN_3_PRIME	chr16	TogoVar
MORC1_chr3_108953248_109123134	108996286	G G	GCGCGCGC others(27): Show GCGCGCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18970.hp2 NA19078.hp2 HG01099.hp2 NA18970.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0001 a0002c0002t0002 a0002c0006t0001	a0002c0002t0002g0148 a0002c0002t0002g0156 a0002c0006t0001g0172 a0002c0002t0002g0148 a0002c0002t0002g0156 a0002c0006t0001g0172	3	294	0.0102	34	c.218 others(53): Show c.2187+4270_2187+4271insTGTGTGTGTGTGTGTGTGTGTGTGTG CGCGCGCG	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	21/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0009 a0005c0005t0003g0009	1	294	0.0034	34	c.133 others(53): Show c.1331-4936_1331-4935insCTTCTCTTCTTCTTTCTTTCTTTCTT TCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAGAGAAAGAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	294	0.0034	34	c.133 others(53): Show c.1331-4936_1331-4935insCTTCCTTCTCTTTCTCTTTCTTTCTT TCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC4_chrX_106935738_107005212	106947571	T T	TTATATAT others(27): Show TTATATATATATATATATATATAATATATATATTA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18983.hp1 NA18995.hp1 others(1): Show NA18975.hp2 NA18983.hp1 NA18995.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0004g0065	4	237	0.0169	34	c.168 others(53): Show c.1686-4367_1686-4366insTAATATATATATTATATATATATATA TATATATA	MORC4	ENSG00000133131.15	transcript	ENST00000355610.9	protein_coding	14/16			chrX	TogoVar
MORN1_chr1_2316253_2396554	2331983	C C	CCTGCGCC others(27): Show CCTGCGCCTCTCCCGCCGCTGCGCCTCTCCCGCCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02258.hp1 others(6): Show HG01496.hp2 HG01884.hp2 HG02258.hp1 HG02280.hp2 HG02723.hp1 HG03209.hp1 HG03225.hp1 HG03834.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0002g0042 a0001c0001t0002g0047	9	80	0.1125	34	c.125 others(53): Show c.1250+4452_1250+4485dupCGGCGGGAGAGGCGCAGCGGCGGGAG AGGCGCAG	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	12/13			chr1	TogoVar
MORN5_chr9_122154908_122205083	122166280	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp1 HG03041.hp2 others(1): Show HG01243.hp1 HG02965.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 others(1): Show a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0004g0342	4	388	0.0103	34	c.48- others(47): Show c.48-474_48-473insTATATATATATATATATATATATATATATATA TA	MORN5	ENSG00000185681.13	transcript	ENST00000373764.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
MOSMO_chr16_22003111_22089654	22023997	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp1 HG03579.hp2 others(4): Show HG00408.hp1 HG02056.hp1 HG03579.hp2 HG04228.hp1 NA18943.hp1 NA18991.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 others(4): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0003g0068 a0001c0001t0019g0184	7	306	0.0229	34	c.106 others(53): Show c.106+15609_106+15610insATATATATATATATATATATATATAT ATATATAT	MOSMO	ENSG00000185716.12	transcript	ENST00000542527.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CCTTTTTT others(27): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0044 a0001c0008t0006g0044	1	302	0.0033	34	c.429 others(51): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAG	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0149 a0001c0029t0002g0149	1	302	0.0033	34	c.429 others(51): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13198737	C C	CTCTCTCT others(27): Show CTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0051 a0001c0001t0011g0051	1	302	0.0033	34	c.154 others(53): Show c.1547-2508_1547-2507insCACACACACACACACACACACACACA GAGAGAGA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	12/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13198737	C C	CTCTCTGT others(27): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18971.hp2 NA18990.hp1 others(1): Show NA18952.hp2 NA18971.hp2 NA18990.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0124 a0001c0001t0002g0192 a0001c0001t0003g0123 others(1): Show a0001c0001t0001g0124 a0001c0001t0002g0192 a0001c0001t0003g0123 a0001c0001t0008g0110	4	302	0.0133	34	c.154 others(53): Show c.1547-2508_1547-2507insCACACACACACACACACACACACACA CACAGAGA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	12/46			chr9	TogoVar
MPHOSPH9_chr12_123149215_123238141	123224110	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18987.hp1 NA19067.hp1 NA18957.hp1 NA18987.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0216 a0002c0003t0002g0255 a0002c0003t0002g0263 a0002c0003t0002g0216 a0002c0003t0002g0255 a0002c0003t0002g0263	3	266	0.0113	34	c.259 others(49): Show c.259-984_259-983insTATATATATATATATATATATATATATATA TAAA	MPHOSPH9	ENSG00000051825.15	transcript	ENST00000606320.6	protein_coding	3/23			chr12	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp2 HG01361.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	2	422	0.0047	34	c.670 others(49): Show c.670+788_670+789insTGTGTGTGTGTGTGTGTGTGTTTTCTGAGC CAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPND_chr19_4338562_4365078	4364866	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 NA19240.hp2 HG04204.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0323 a0001c0002t0001g0243 a0001c0002t0001g0323	2	422	0.0047	34	c.48 others(45): Show c.4864_*4865insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	MPND	ENSG00000008382.16	transcript	ENST00000599840.6	protein_coding		4789		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43432794	A A	AGAGAGAG others(27): Show AGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0213 a0001c0004t0022g0213	1	250	0.0040	34	c.225 others(51): Show c.225-2213_225-2212insAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432815	A A	AGAGAGAG others(27): Show AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0170 a0001c0006t0017g0170	1	250	0.0040	34	c.225 others(51): Show c.225-2210_225-2177dupAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432832	A A	AGAGAGAG others(27): Show AGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03688.hp1 HG03704.hp1 HG02040.hp1 HG03688.hp1 HG03704.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0015 a0001c0005t0004g0016 a0001c0005t0004g0017 a0001c0005t0004g0015 a0001c0005t0004g0016 a0001c0005t0004g0017	3	250	0.0120	34	c.225 others(51): Show c.225-2191_225-2158dupAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43463807	T T	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	250	0.0040	34	c.407 others(53): Show c.407-10914_407-10913insTTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497929	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATACATATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	250	0.0040	34	c.633 others(49): Show c.633-301_633-300insATATATATATATATATATATATACATATAT ATAT	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(27): Show GTATATATATATATATATATATATATATATACATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0105 a0001c0002t0007g0105	1	250	0.0040	34	c.633 others(49): Show c.633-301_633-300insATATATATATATATATATATATATACATAT ATAT	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(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	250	0.0040	34	c.633 others(49): Show c.633-301_633-300insATATATATATATATATATATATATATATAT ATAT	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(27): Show GTATGTATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0191 a0001c0001t0006g0192	2	250	0.0080	34	c.633 others(49): Show c.633-303_633-302insGTATGTGTATATATATATATATATATATAT ATAT	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(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0006 a0001c0003t0024g0006	1	250	0.0040	34	c.633 others(49): Show c.633-305_633-304insGTATATATATATATATATATATATATATAT ATAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPZL1_chr1_167716982_167796919	167739308	T T	TATATATA others(27): Show TATATATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	378	0.0027	34	c.91+ others(51): Show c.91+17067_91+17068insTATATATATATATATATATATATACATA CATACA	MPZL1	ENSG00000197965.12	transcript	ENST00000359523.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
MPZL1_chr1_167716982_167796919	167739308	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18970.hp2 NA18995.hp2 others(1): Show HG02698.hp1 NA18970.hp2 NA18995.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0340 others(1): Show a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0340 a0001c0001t0001g0348	4	378	0.0106	34	c.91+ others(51): Show c.91+17067_91+17068insTATATATATATATATATATATATATATA CATACA	MPZL1	ENSG00000197965.12	transcript	ENST00000359523.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0086 a0001c0001t0011g0086	1	444	0.0023	34	c.67+ others(47): Show c.67+286_67+287insAAAAAAAATATATATATATATATATATATATA TA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03942.hp1 HG03710.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0003g0070 a0001c0001t0001g0069 a0001c0001t0003g0070	2	444	0.0045	34	c.67+ others(47): Show c.67+286_67+287insAAAAAAAAAAAAAAAAAATATATATATATATA TA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	444	0.0023	34	c.67+ others(47): Show c.67+286_67+287insAAAAAAAAAAAAAAAAAAAATATATATATATA TA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MREG_chr2_215937584_216018551	215975008	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	416	0.0024	34	c.255 others(53): Show c.255+21297_255+21298insTATATATATATATATATATATATATA TATATATA	MREG	ENSG00000118242.17	transcript	ENST00000263268.11	protein_coding	2/4			chr2	TogoVar
MROH1_chr8_144143016_144266926	144202957	A A	AGGGGACC others(27): Show AGGGGACCACCCGCTGTCTGTGGAGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01074.hp1 others(3): Show HG00280.hp1 HG00609.hp1 HG01074.hp1 HG01952.hp1 HG06807.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0134 a0001c0002t0001g0096 a0001c0002t0001g0100 others(3): Show a0001c0001t0001g0134 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0137 a0001c0002t0001g0138	6	140	0.0429	34	c.114 others(53): Show c.1141+2421_1141+2422insCCACCCGCTGTCTGTGGAGGGGCGGG GGGGGGGA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144262774	A A	ACCCCCAC others(27): Show ACCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01934.hp2 HG01175.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0110 a0001c0002t0001g0054 a0001c0002t0001g0110	2	140	0.0143	34	c.10 others(45): Show c.1034_*1035insCCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding		849		chr8	TogoVar
MROH1_chr8_144143016_144266926	144262803	G G	GCCCCCCC others(27): Show GCCCCCCCCCACCCCTCACCTGCAGGGTACACCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01891.hp2 HG01934.hp1 others(8): Show HG00673.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02074.hp1 NA19057.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 others(8): Show a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0001g0091 a0001c0002t0001g0102 a0001c0002t0001g0122 a0001c0002t0001g0137	11	140	0.0786	34	c.10 others(45): Show c.1063_*1064insCCCCCCCCCACCCCTCACCTGCAGGGTACACCGC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding		878		chr8	TogoVar
MROH1_chr8_144143016_144266926	144262839	C C	CCCCCCCC others(27): Show CCCCCCCCCCCACCCCTCACCTGCAGGGTGCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0017 a0004c0018t0001g0017	1	140	0.0071	34	c.10 others(45): Show c.1099_*1100insCCCCCCCCCCACCCCTCACCTGCAGGGTGCACTG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding		914		chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787647	T T	TCATATAT others(27): Show TCATATATACATATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0018 a0018	a0018c0050 a0018c0050	a0018c0050t0001 a0018c0050t0001	a0018c0050t0001g0060 a0018c0050t0001g0060	1	378	0.0027	34	c.277 others(51): Show c.277-1841_277-1808dupCATATATATTATATATATTATATATACA TATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787819	A A	ACATATAT others(27): Show ACATATATATTATATATTATATATATTATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0018 a0018	a0018c0050 a0018c0050	a0018c0050t0001 a0018c0050t0001	a0018c0050t0001g0060 a0018c0050t0001g0060	1	378	0.0027	34	c.277 others(51): Show c.277-1678_277-1677insCATATATATTATATATTATATATATTAT ATATAC	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787963	T T	TTATATAT others(27): Show TTATATATACATATATATTATATATACATATATTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0141 a0002c0003t0001g0141	1	378	0.0027	34	c.277 others(51): Show c.277-1425_277-1392dupTACATATATATTATATATACATATATTA TATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0213 a0021c0021t0001g0213	1	396	0.0025	34	c.757 others(49): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41			chr5	TogoVar
MRPL45_chr17_38292168_38328211	38313322	A A	ATATATAT others(27): Show ATATATATATATACGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	287	0.0035	34	c.462 others(51): Show c.462-5355_462-5354insTACGTATATATATATATATATACGTATA TATATA	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(27): Show TACGTATATATATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0032	1	287	0.0035	34	c.462 others(51): Show c.462-5351_462-5350insCGTATATATATATATATATACATATATA TATACA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar

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