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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⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MTCH2_chr11_47612317_47647559	47633505	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01891.hp1 NA18998.hp1 others(1): Show HG00323.hp1 HG01891.hp1 NA18998.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0052 a0002c0002t0001g0057 others(1): Show a0002c0002t0001g0041 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0112	4	370	0.0108	30	c.369 others(47): Show c.369+1166_369+1167insATATATATATATATATATATATATATAT AT		MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12						chr11	TogoVar
MTCL1_chr18_8700556_8837778	8705585	A A	ACGCCGCC others(23): Show ACGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0022 a0006c0014t0022	a0006c0014t0022g0115 a0006c0014t0022g0115	1	336	0.0030	30	c.-50 others(37): Show c.-50_-49insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG		MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	1/15				49	INFO_REALIGN_3_PRIME	chr18	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0082 a0001c0001t0044g0082	1	370	0.0027	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAAATATA TATA		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG03490.hp2 others(3): Show HG00639.hp2 HG01192.hp2 HG03490.hp2 NA18747.hp1 NA18965.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0101	6	370	0.0162	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAATATATA TATA		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18968.hp2 NA19065.hp1 NA18949.hp2 NA18968.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0026g0098 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0026g0098	3	370	0.0081	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAATATATATA TATA		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0118 a0001c0001t0034g0118	1	370	0.0027	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAATATATATATA TATA		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250632	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAAGAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18942.hp2 HG01256.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0186 a0001c0001t0001g0204	2	294	0.0068	30	c.677 others(45): Show c.677+273_677+274insTCTTCTTTCTTCTTTCTTCTTCTTCTTCTT		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250639	A A	AAGGAGGA others(23): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03834.hp1 HG01167.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0068 a0001c0001t0001g0074	2	294	0.0068	30	c.677 others(45): Show c.677+266_677+267insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	294	0.0034	30	c.677 others(45): Show c.677+224_677+225insCCTCCTCCTTCTTCTTCTTCTTCTTCTTCT		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAGGAGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00639.hp2 others(23): Show HG00280.hp1 HG00438.hp2 HG00639.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG02630.hp2 HG02735.hp1 HG03017.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG04115.hp1 HG04199.hp1 NA18951.hp2 NA18953.hp1 NA18960.hp2 NA18965.hp2 NA18979.hp2 NA19011.hp2 NA19068.hp1 NA20752.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0006 a0001c0001 a0008c0006	a0001c0001t0001 a0008c0006t0001 a0001c0001t0001 a0008c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0184 a0001c0001t0001g0187 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0008c0006t0001g0183	26	294	0.0884	30	c.677 others(45): Show c.677+223_677+224insCCCTCCCCCTCCCTCCTCTTCTTCTTCTTC		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(23): Show AGAAGAAGAAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	294	0.0034	30	c.677 others(45): Show c.677+223_677+224insCCCTCCCCCTCCCCCTCCCCCTTCTTCTTC		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAGG others(23): Show AGAAGAGGAAGAGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	294	0.0034	30	c.677 others(45): Show c.677+223_677+224insCCCTCCCCCTCCCCCTCCCTCTTCCTCTTC		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	151069251	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	226	0.0044	30	c.284 others(51): Show c.2848-23215_2848-23186dupTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC		MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27					INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1_chr14_64383353_64465025	64429261	A A	AACATATA others(23): Show AACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG02976.hp2 others(3): Show HG00621.hp1 HG01109.hp1 HG02976.hp2 NA18962.hp1 NA18993.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0128 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0128 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0214	6	342	0.0175	30	c.126 others(47): Show c.1265-922_1265-921insCATATATATATATATATATATATATATA TA		MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	12/27					INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD2L_chr4_74153118_74308099	74187800	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	200	0.0050	30	c.452 others(49): Show c.452-11988_452-11959dupCACACACACACACACACACACACACA CACA		MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2L_chr4_74153118_74308099	74188742	A A	ATATGGGT others(23): Show ATATGGGTATATATATATGTGTATACATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	200	0.0050	30	c.452 others(49): Show c.452-11049_452-11048insGGGTATATATATATGTGTATACATAT GTAT		MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2_chr2_74193615_74222565	74203843	C C	CTAGTTTA others(23): Show CTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	414	0.0024	30	c.102 others(47): Show c.102-1826_102-1797dupTAGTTTAGTTTAGTTTAGTTTAGTTTAG TT		MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
MTHFD2_chr2_74193615_74222565	74203906	G G	GTTTAGTT others(23): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTAGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	414	0.0024	30	c.102 others(47): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTAGT TT		MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
MTM1_chrX_150563621_150678143	150583916	T T	TATATTAA others(23): Show TATATTAAATATATATATTTAATATATATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02615.hp1 others(2): Show HG00140.hp1 HG01884.hp1 HG02615.hp1 HG03041.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0165 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168	5	277	0.0181	30	c.-10 others(47): Show c.-10-8688_-10-8687insTATTAAATATATATATTTAATATATATT AA		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
MTM1_chrX_150563621_150678143	150647194	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG01243.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0030 a0001c0001t0001g0115	2	277	0.0072	30	c.867 others(47): Show c.867+1350_867+1351insTATATATATATATATATATATATATATA TA		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	9/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
MTM1_chrX_150563621_150678143	150647221	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	277	0.0036	30	c.867 others(47): Show c.867+1350_867+1351insTATATATATATATATATATATATATATA TG		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	9/14						chrX	TogoVar
MTMR3_chr22_29878174_30035868	29896869	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01978.hp1 HG00741.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0065 a0001c0001t0003 a0001c0001t0065	a0001c0001t0003g0007 a0001c0001t0065g0301 a0001c0001t0003g0007 a0001c0001t0065g0301	2	334	0.0060	30	c.-13 others(51): Show c.-138+13515_-138+13544dupCACACACACACACACACACACACA CACACA		MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR7_chr8_17291794_17418351	17304746	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp1 HG02257.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0088 a0001c0001t0008g0082 a0001c0001t0008g0088	2	360	0.0056	30	c.135 others(47): Show c.1353-228_1353-227insACACACACACACACACACACACACACAC AC		MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	11/13						chr8	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(23): Show CCACACACATGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0053 a0002c0003t0003g0053	1	372	0.0027	30	c.371 others(47): Show c.3711+190_3711+191insTGCGCGCGCGCACACACACACACACACA CA		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(23): Show CCACACACATGCGCGCGCGCGCACGCGCGCG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20905.hp2 NA20300.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0030 a0002c0003t0013 a0002c0003t0030	a0002c0003t0013g0069 a0002c0003t0030g0096 a0002c0003t0013g0069 a0002c0003t0030g0096	2	372	0.0054	30	c.371 others(47): Show c.3711+190_3711+191insTGCGCGCGCGCGCACGCGCGCGCACACA CA		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(23): Show CCACACACATGCGCGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0026 a0002c0003t0016g0026	1	372	0.0027	30	c.371 others(47): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCACACACA CA		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTSS1_chr8_124545784_124733473	124564691	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19065.hp1 HG00140.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0211 a0001c0001t0001g0052 a0001c0001t0001g0211	2	286	0.0070	30	c.824 others(45): Show c.824+970_824+971insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	9/13						chr8	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0010 a0003c0009t0010	a0003c0009t0010g0006 a0003c0009t0010g0006	1	286	0.0035	30	c.209 others(49): Show c.209-10954_209-10953insATATATATATATATATATATATATAT ATAT		MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13						chr8	TogoVar
MTSS1_chr8_124545784_124733473	124619932	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02922.hp2 others(5): Show HG01884.hp1 HG02559.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0003 a0001c0001t0001 a0001c0004t0001 a0002c0002t0003	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0178 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0182 a0001c0004t0001g0252 a0002c0002t0003g0177	8	286	0.0280	30	c.209 others(49): Show c.209-28727_209-28698dupGAAAAGAAAAGAAAAGAAAAGAAAAG AAAA		MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13						chr8	TogoVar
MTSS2_chr16_70656204_70691053	70660839	G G	GGCCCAGC others(23): Show GGCCCAGCCCAGCCCAGCCCAGCCCAGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 NA18954.hp1 HG03654.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0073 a0001c0001t0024 a0001c0001t0073	a0001c0001t0024g0236 a0001c0001t0073g0219 a0001c0001t0024g0236 a0001c0001t0073g0219	2	398	0.0050	30	c.28 others(41): Show c.2837_*2838insTGGGCTGGGCTGGGCTGGGCTGGGCTGGGC		MTSS2	ENSG00000132613.16	transcript	ENST00000338779.11	protein_coding					364		chr16	TogoVar
MTSS2_chr16_70656204_70691053	70660839	G G	GGCCCAGC others(23): Show GGCCCAGCCCGGCCCAGCCCAGCCCAGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA18964.hp1 NA18966.hp2 others(1): Show HG03017.hp2 NA18964.hp1 NA18966.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0003c0005t0020 a0001c0001t0001 a0001c0001t0006 a0003c0005t0020	a0001c0001t0001g0014 a0001c0001t0001g0133 a0001c0001t0006g0006 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0133 a0001c0001t0006g0006 a0003c0005t0020g0122	4	398	0.0101	30	c.28 others(41): Show c.2837_*2838insTGGGCTGGGCTGGGCTGGGCCGGGCTGGGC		MTSS2	ENSG00000132613.16	transcript	ENST00000338779.11	protein_coding					364		chr16	TogoVar
MTTP_chr4_99569824_99628997	99580574	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	364	0.0028	30	c.62- others(45): Show c.62-1305_62-1304insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588956	C C	CATATATA others(23): Show CATATATATATGTTCATATATATACACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18950.hp2 HG00741.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0280 a0002c0002t0002g0183 a0002c0002t0002g0280	2	364	0.0055	30	c.394 others(45): Show c.394-679_394-678insATGTTCATATATATACACACATATATATAT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589003	A A	ATGTTCAT others(23): Show ATGTTCATATATATATATGTTCATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02451.hp2 HG02895.hp1 others(3): Show HG01192.hp1 HG02451.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03540.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0013 a0005c0005t0001g0120 a0005c0005t0001g0129 others(3): Show a0005c0005t0001g0013 a0005c0005t0001g0120 a0005c0005t0001g0129 a0005c0005t0001g0130 a0005c0005t0001g0135 a0005c0005t0001g0137	6	364	0.0165	30	c.394 others(45): Show c.394-639_394-638insGTTCATATATATATATGTTCATATATATGT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
MTURN_chr7_30129986_30167762	30140415	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00673.hp2 others(22): Show HG00438.hp2 HG00609.hp1 HG00673.hp2 HG02015.hp2 HG02040.hp2 HG02155.hp1 HG02258.hp1 HG02300.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp2 NA18906.hp1 NA18939.hp1 NA18955.hp2 NA18962.hp2 NA18965.hp1 NA18984.hp2 NA18986.hp2 NA19000.hp1 NA19054.hp1 NA19056.hp2 NA19070.hp1 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0028 a0001c0001t0034	a0001c0001t0001g0006 a0001c0001t0001g0182 a0001c0001t0001g0185 others(17): Show a0001c0001t0001g0006 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0259 a0001c0001t0001g0321 a0001c0001t0002g0028 a0001c0001t0002g0157 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0252 a0001c0001t0002g0271 a0001c0001t0003g0104 a0001c0001t0003g0298 a0001c0001t0004g0167 a0001c0001t0009g0114 a0001c0001t0028g0035 a0001c0001t0034g0184	25	426	0.0587	30	c.162 others(47): Show c.162+5118_162+5119insGTGTGTGTATATATATATATATATATAT AT		MTURN	ENSG00000180354.16	transcript	ENST00000324453.13	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
MTURN_chr7_30129986_30167762	30140415	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01516.hp1 others(9): Show HG00280.hp1 HG00423.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp1 HG04228.hp2 NA18947.hp2 NA18975.hp1 NA18981.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0055	a0001c0001t0001g0033 a0001c0001t0001g0206 a0001c0001t0001g0249 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0206 a0001c0001t0001g0249 a0001c0001t0002g0045 a0001c0001t0002g0250 a0001c0001t0003g0026 a0001c0001t0003g0174 a0001c0001t0004g0251 a0001c0001t0055g0151	12	426	0.0282	30	c.162 others(47): Show c.162+5118_162+5119insGTGTGTGTGTATATATATATATATATAT AT		MTURN	ENSG00000180354.16	transcript	ENST00000324453.13	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
MTURN_chr7_30129986_30167762	30140415	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03927.hp2 HG01928.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0180 a0001c0002t0004g0083 a0001c0001t0004g0180 a0001c0002t0004g0083	2	426	0.0047	30	c.162 others(47): Show c.162+5118_162+5119insGTGTGTGTGTGTATATATATATATATAT AT		MTURN	ENSG00000180354.16	transcript	ENST00000324453.13	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
MTUS1_chr8_17638802_17806094	17641896	T T	TCCCCGCC others(23): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG03453.hp2 NA20300.hp1 HG02074.hp2 HG03453.hp2 NA20300.hp1	a0003 a0006 a0034 a0003 a0006 a0034	a0003c0006 a0006c0019 a0034c0085 a0003c0006 a0006c0019 a0034c0085	a0003c0006t0006 a0006c0019t0002 a0034c0085t0002 a0003c0006t0006 a0006c0019t0002 a0034c0085t0002	a0003c0006t0006g0098 a0006c0019t0002g0185 a0034c0085t0002g0270 a0003c0006t0006g0098 a0006c0019t0002g0185 a0034c0085t0002g0270	3	330	0.0091	30	c.40 others(41): Show c.4029_*4030insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGG		MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding					1905		chr8	TogoVar
MTUS2_chr13_28815339_29510947	29350960	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	92	0.0109	30	c.290 others(49): Show c.2906-8278_2906-8277insATATATATATATATATATATATATAT ATAT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29383252	G G	GTGTATAT others(23): Show GTGTATATATATATATATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03490.hp2 HG03492.hp2 HG02129.hp1 HG03490.hp2 HG03492.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0030 a0001c0001t0031 a0006c0006t0002 a0001c0001t0030 a0001c0001t0031 a0006c0006t0002	a0001c0001t0030g0033 a0001c0001t0031g0032 a0006c0006t0002g0049 a0001c0001t0030g0033 a0001c0001t0031g0032 a0006c0006t0002g0049	3	92	0.0326	30	c.311 others(51): Show c.3117+23780_3117+23781insGTATATATATATATATTTATTTAT TTATTT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29389243	A A	ATATATAT others(23): Show ATATATATGTATACACATGTGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0015 a0004c0019t0001g0015	1	92	0.0109	30	c.311 others(51): Show c.3117+29788_3117+29817dupGTGTGTATATATGTATATATGTAT ACACAT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC20_chr3_195715978_195738551	195738099	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0053 a0007c0009t0002g0053	1	185	0.0054	30	c.48 others(41): Show c.4881_*4882insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding					4549		chr3	TogoVar
MUC22_chr6_31005474_31040402	31021203	G G	GGAGAGTC others(23): Show GGAGAGTCTTTATGTCTAGCTTAGGGATTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0110 a0110	a0110c0096 a0110c0096	a0110c0096t0003 a0110c0096t0003	a0110c0096t0003g0192 a0110c0096t0003g0192	1	461	0.0022	30	c.71- others(45): Show c.71-4298_71-4269dupGAGAGTCTTTATGTCTAGCTTAGGGATTGT		MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31026763	A A	AGAGACCA others(23): Show AGAGACCACCACAGTCTCTACTGCAGGCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp1 HG03209.hp1	a0079 a0079	a0079c0112 a0079c0112	a0079c0112t0003 a0079c0112t0003	a0079c0112t0003g0117 a0079c0112t0003g0117	1	461	0.0022	30	c.134 others(39): Show c.1341_1370dupCACAGTCTCTACTGCAGGCTCTGAGACCAC	p.Thr others(43): Show p.Thr457_Thr458insThrValSerThrAlaGlySerGluThrThr	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1604/6019	1371/5322	457/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31028873	A A	ACCTCTAC others(23): Show ACCTCTACTGAAGGCTCTGAGACCACCACAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(24): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02135.hp2 HG02683.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18965.hp2 NA18975.hp2 NA18983.hp1 NA18986.hp1 NA19063.hp2 NA20300.hp2	a0007 a0050 a0051 others(5): Show a0007 a0050 a0051 a0058 a0083 a0101 a0102 a0104	a0007c0004 a0007c0053 a0050c0048 others(7): Show a0007c0004 a0007c0053 a0050c0048 a0051c0054 a0058c0090 a0058c0091 a0083c0107 a0101c0087 a0102c0089 a0104c0086	a0007c0004t0001 a0007c0004t0002 a0007c0053t0001 others(8): Show a0007c0004t0001 a0007c0004t0002 a0007c0053t0001 a0050c0048t0001 a0051c0054t0001 a0058c0090t0001 a0058c0091t0001 a0083c0107t0001 a0101c0087t0001 a0102c0089t0001 a0104c0086t0001	a0007c0004t0001g0021 a0007c0004t0001g0027 a0007c0004t0001g0046 others(16): Show a0007c0004t0001g0021 a0007c0004t0001g0027 a0007c0004t0001g0046 a0007c0004t0001g0047 a0007c0004t0001g0095 a0007c0004t0001g0096 a0007c0004t0001g0100 a0007c0004t0001g0101 a0007c0004t0001g0123 a0007c0004t0002g0097 a0007c0053t0001g0045 a0050c0048t0001g0050 a0051c0054t0001g0051 a0058c0090t0001g0099 a0058c0091t0001g0021 a0083c0107t0001g0094 a0101c0087t0001g0098 a0102c0089t0001g0102 a0104c0086t0001g0027	27	461	0.0586	30	c.346 others(39): Show c.3464_3493dupCCACCACAGCCTCTACTGAAGGCTCTGAGA	p.Thr others(15): Show p.Thr1155_Glu1164dup	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	3727/6019	3494/5322	1165/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31028943	C C	CAGGCTCT others(23): Show CAGGCTCTGAGACCACCACAGCCTCTACTGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp1 HG00280.hp2 HG00733.hp2 others(23): Show HG00280.hp1 HG00280.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02135.hp2 HG02683.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18965.hp2 NA18975.hp2 NA18983.hp1 NA18986.hp1 NA19063.hp2 NA20300.hp2	a0007 a0050 a0051 others(4): Show a0007 a0050 a0051 a0058 a0083 a0101 a0104	a0007c0004 a0007c0053 a0050c0048 others(6): Show a0007c0004 a0007c0053 a0050c0048 a0051c0054 a0058c0090 a0058c0091 a0083c0107 a0101c0087 a0104c0086	a0007c0004t0001 a0007c0004t0002 a0007c0053t0001 others(7): Show a0007c0004t0001 a0007c0004t0002 a0007c0053t0001 a0050c0048t0001 a0051c0054t0001 a0058c0090t0001 a0058c0091t0001 a0083c0107t0001 a0101c0087t0001 a0104c0086t0001	a0007c0004t0001g0021 a0007c0004t0001g0027 a0007c0004t0001g0046 others(15): Show a0007c0004t0001g0021 a0007c0004t0001g0027 a0007c0004t0001g0046 a0007c0004t0001g0047 a0007c0004t0001g0095 a0007c0004t0001g0096 a0007c0004t0001g0100 a0007c0004t0001g0101 a0007c0004t0001g0123 a0007c0004t0002g0097 a0007c0053t0001g0045 a0050c0048t0001g0050 a0051c0054t0001g0051 a0058c0090t0001g0099 a0058c0091t0001g0021 a0083c0107t0001g0094 a0101c0087t0001g0098 a0104c0086t0001g0027	26	461	0.0564	30	c.355 others(39): Show c.3553_3582dupACCACCACAGCCTCTACTGAAGGCTCTGAG	p.Thr others(15): Show p.Thr1185_Glu1194dup	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	3816/6019	3583/5322	1195/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31028954	A A	ACCACCAC others(23): Show ACCACCACAGCCTCTACTGAAGGCTCTGAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp1	a0102 a0102	a0102c0089 a0102c0089	a0102c0089t0001 a0102c0089t0001	a0102c0089t0001g0102 a0102c0089t0001g0102	1	461	0.0022	30	c.355 others(39): Show c.3552_3553insGCCACCACAGCCTCTACTGAAGGCTCTGAG	p.Glu others(45): Show p.Glu1184_Thr1185insAlaThrThrAlaSerThrGluGlySerGlu	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	3786/6019	3553/5322	1185/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31029718	T T	TACTGCAG others(23): Show TACTGCAGGCTCTGAGACCACCACAGCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp2 HG01884.hp2 HG06807.hp2 HG00741.hp2 HG01884.hp2 HG06807.hp2	a0050 a0083 a0050 a0083	a0050c0048 a0083c0107 a0050c0048 a0083c0107	a0050c0048t0001 a0083c0107t0001 a0050c0048t0001 a0083c0107t0001	a0050c0048t0001g0050 a0083c0107t0001g0094 a0050c0048t0001g0050 a0083c0107t0001g0094	3	461	0.0065	30	c.429 others(39): Show c.4291_4292insCAGGCTCTGAGACCACCACAGCCTCCACTG	p.Thr others(45): Show p.Thr1430_Glu1431insAlaGlySerGluThrThrThrAlaSerThr	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	4525/6019	4292/5322	1431/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31029723	A A	AAGGCTCT others(23): Show AAGGCTCTGAGACCACCACAGCCTCCACTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00558.hp1 HG02080.hp2 others(12): Show HG00140.hp2 HG00558.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02723.hp1 HG02809.hp2 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 NA18612.hp1 NA19002.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0016 a0032 a0060 others(4): Show a0016 a0032 a0060 a0063 a0067 a0070 a0073	a0016c0020 a0032c0039 a0060c0101 others(5): Show a0016c0020 a0032c0039 a0060c0101 a0060c0169 a0063c0044 a0067c0166 a0070c0151 a0073c0161	a0016c0020t0001 a0032c0039t0001 a0060c0101t0003 others(5): Show a0016c0020t0001 a0032c0039t0001 a0060c0101t0003 a0060c0169t0006 a0063c0044t0001 a0067c0166t0001 a0070c0151t0001 a0073c0161t0001	a0016c0020t0001g0013 a0016c0020t0001g0193 a0016c0020t0001g0195 others(9): Show a0016c0020t0001g0013 a0016c0020t0001g0193 a0016c0020t0001g0195 a0016c0020t0001g0198 a0032c0039t0001g0013 a0032c0039t0001g0196 a0060c0101t0003g0173 a0060c0169t0006g0154 a0063c0044t0001g0054 a0067c0166t0001g0013 a0070c0151t0001g0013 a0073c0161t0001g0197	15	461	0.0325	30	c.435 others(39): Show c.4351_4380dupGCAGGCTCTGAGACCACCACAGCCTCCACT	p.Ala others(15): Show p.Ala1451_Thr1460dup	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	4614/6019	4381/5322	1461/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC4_chr3_195741771_195816929	195767630	T T	TCACTGCC others(23): Show TCACTGCCACCCCCAACACTACCACCATCGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0178 a0178	a0178c0034 a0178c0034	a0178c0034t0002 a0178c0034t0002	a0178c0034t0002g0194 a0178c0034t0002g0194	1	249	0.0040	30	c.135 others(49): Show c.13530-880_13530-879insGCGATGGTGGTAGTGTTGGGGGTGGC AGTG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24						chr3	TogoVar

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Search Results (Total: 10000 hits)