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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
MACIR_chr5_103253763_103283660	103261646	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19002.hp2 NA19010.hp1 HG02818.hp1 NA19002.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0069 a0001c0001t0002g0134 a0001c0001t0002g0135	3	360	0.0083	45	c.-11 others(64): Show c.-114+2753_-114+2797dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261649	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	360	0.0028	45	c.-11 others(64): Show c.-114+2754_-114+2798dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261650	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19056.hp2 HG02818.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0127 a0001c0001t0002g0085 a0001c0001t0002g0127	2	360	0.0056	45	c.-11 others(64): Show c.-114+2757_-114+2801dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261653	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	360	0.0028	45	c.-11 others(64): Show c.-114+2758_-114+2802dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03017.hp2 NA18948.hp2 others(2): Show HG00609.hp1 HG03017.hp2 NA18948.hp2 NA19063.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0072 a0001c0001t0002g0120 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0072 a0001c0001t0002g0120 a0001c0001t0002g0121	5	360	0.0139	45	c.-11 others(64): Show c.-114+2761_-114+2805dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261658	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03486.hp1 NA19000.hp2 others(1): Show HG01106.hp2 HG03486.hp1 NA19000.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0022 a0001c0001t0002g0112 a0001c0001t0002g0141 others(1): Show a0001c0001t0002g0022 a0001c0001t0002g0112 a0001c0001t0002g0141 a0001c0001t0011g0022	4	360	0.0111	45	c.-11 others(64): Show c.-114+2764_-114+2808dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261662	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	360	0.0028	45	c.-11 others(64): Show c.-114+2808_-114+2809insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261666	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	360	0.0028	45	c.-11 others(64): Show c.-114+2808_-114+2809insTCTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAD1L1_chr7_1810795_2237945	2050183	G G	GCGTCTGC others(38): Show GCGTCTGCGGGCACCAGACCACACGTTCACGGGGCACCTCACCCAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03209.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147	3	264	0.0114	45	c.121 others(66): Show c.1218+19010_1218+19011insGTGGGTGAGGTGCCCCGTGAACGT GTGGTCTGGTGCCCGCAGACG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAFB_chr20_40680848_40694236	40687345	G G	GAGAGCCA others(38): Show GAGAGCCAGTGTTCCCGAACAAAAACAAAAAAAAAATAAAAAATTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	428	0.0023	45	c.53 others(54): Show c.533_*534insGAATTTTTTATTTTTTTTTTGTTTTTGTTCGGGAAC ACTGGCTCT	MAFB	ENSG00000204103.4	transcript	ENST00000373313.3	protein_coding	1/1	533		chr20	TogoVar
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(38): Show GTATATACTATATACTATATATATATATATATATACTATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp2 HG03195.hp1 others(1): Show HG00140.hp2 HG01952.hp2 HG03195.hp1 NA19240.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0008c0010t0001	a0001c0001t0001g0071 a0001c0001t0004g0001 a0002c0002t0001g0036 others(1): Show a0001c0001t0001g0071 a0001c0001t0004g0001 a0002c0002t0001g0036 a0008c0010t0001g0067	4	104	0.0385	45	c.430 others(64): Show c.430+11229_430+11230insTATATATATAGTATATATATATATAT ATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78715845	A A	ATTTTGTA others(38): Show ATTTTGTATTTTGTATTTTGTATTTTGTATTTATTTGTATTTATTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0002 a0001c0003t0004g0002	1	40	0.0250	45	c.419 others(64): Show c.419-88607_419-88606insAAATAAATACAAATAAATACAAAATA CAAAATACAAAATACAAAA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113484713	C C	CTCCCCTC others(38): Show CTCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0178 a0001c0003t0002g0178	1	236	0.0042	45	c.317 others(64): Show c.317-64798_317-64797insCTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCC	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MALRD1_chr10_19043801_19739478	19165266	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0075 a0075	a0075c0030 a0075c0030	a0075c0030t0001 a0075c0030t0001	a0075c0030t0001g0125 a0075c0030t0001g0125	1	152	0.0066	45	c.165 others(62): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT ATATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19644479	T T	TGAACAAA others(38): Show TGAACAAAAGGAAGCAGTTACTTCATTTAGATCATGCATAGTGATG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0023 a0023	a0023c0112 a0023c0112	a0023c0112t0001 a0023c0112t0001	a0023c0112t0001g0037 a0023c0112t0001g0037	1	152	0.0066	45	c.613 others(66): Show c.6137+28557_6137+28558insAACAAAAGGAAGCAGTTACTTCAT TTAGATCATGCATAGTGATGG	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	36/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAML3_chr4_139711753_140159184	140104408	A A	ATATATTA others(38): Show ATATATTATATATTATATAATATATAATATATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	152	0.0066	45	c.468 others(64): Show c.468+48451_468+48452insAATATATAATATATATATATTATATA TTATATAATATATAATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579051	T T	TCACCACC others(38): Show TCACCACCACCATCACCATCACCACCACCACCACCACCATCACCAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19085.hp1 NA18963.hp2 NA19085.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0218 a0002c0004t0002g0219 a0002c0004t0002g0218 a0002c0004t0002g0219	2	362	0.0055	45	c.391 others(60): Show c.391+588_391+589insCCATCACCAGCACCACCACCATCACCATCA CCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579069	T T	TCACCACC others(38): Show TCACCACCACCACCACCACTACCATCACCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19088.hp2 NA18999.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0092 a0001c0001t0001g0093	2	362	0.0055	45	c.391 others(60): Show c.391+588_391+589insCTACCATCACCACCACCATCACCATCACCA CCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579259	C C	CCACCACC others(38): Show CCACCACCACCATCACCACCACCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0030	1	362	0.0028	45	c.391 others(60): Show c.391+784_391+785insCCATCACCACCACCACCACCATCACCACCA CCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2K3_chr17_21279711_21320232	21291346	T T	TAGAATAC others(38): Show TAGAATACAATAGAATACAGTACAATACAATACAACACAACACAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(61): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01123.hp2 HG01515.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp1 HG02723.hp1 HG03017.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18940.hp2 NA18947.hp1 NA18949.hp2 NA18955.hp1 NA18957.hp1 NA18965.hp2 NA18969.hp1 NA18977.hp2 NA18983.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19067.hp2 NA19076.hp2 NA19082.hp1 NA19086.hp2 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 a0001c0002t0001 a0003c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0003g0002 a0001c0001t0003g0101 a0001c0001t0007g0095 a0001c0001t0013g0094 a0001c0001t0021g0057 a0001c0002t0001g0129 a0003c0009t0001g0108	64	366	0.1749	45	c.49+ others(60): Show c.49+6378_49+6379insGAATACAATAGAATACAGTACAATACAATA CAACACAACACAACA	MAP2K3	ENSG00000034152.20	transcript	ENST00000342679.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K7_chr19_7898877_7919478	7910790	A A	AGATGACA others(38): Show AGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG02027.hp1 others(16): Show HG00544.hp2 HG00621.hp2 HG02027.hp1 HG02155.hp2 NA18948.hp1 NA18949.hp1 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18980.hp1 NA19005.hp2 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0015 a0002c0003 a0005c0015	a0002c0003t0004 a0002c0003t0024 a0002c0003t0025 others(1): Show a0002c0003t0004 a0002c0003t0024 a0002c0003t0025 a0005c0015t0004	a0002c0003t0004g0009 a0002c0003t0004g0023 a0002c0003t0004g0045 others(6): Show a0002c0003t0004g0009 a0002c0003t0004g0023 a0002c0003t0004g0045 a0002c0003t0004g0140 a0002c0003t0004g0141 a0002c0003t0004g0142 a0002c0003t0024g0009 a0002c0003t0025g0023 a0005c0015t0004g0144	19	434	0.0438	45	c.671 others(55): Show c.671_675+40dupTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGC AGGATGACAG	MAP2K7	ENSG00000076984.18	transcript	ENST00000397979.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185455594	A A	ATATATAT others(38): Show ATATATATGACATATATATCATATATATGATATATATGACATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03516.hp1 HG01175.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0035 a0001c0001t0004 a0001c0001t0035	a0001c0001t0004g0274 a0001c0001t0035g0116 a0001c0001t0004g0274 a0001c0001t0035g0116	2	278	0.0072	45	c.127 others(64): Show c.1278+4199_1278+4200insTATATATGACATATATATCATATATA TGATATATATGACATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13			chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGGGAGGG others(38): Show AGGGAGGGAGGGATGGGGGAGAGAGAGGGGAGAGGGGGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18955.hp1 HG03139.hp1 NA18955.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0009 a0002c0002 a0013c0009	a0002c0002t0016 a0013c0009t0020 a0002c0002t0016 a0013c0009t0020	a0002c0002t0016g0067 a0013c0009t0020g0163 a0002c0002t0016g0067 a0013c0009t0020g0163	2	163	0.0123	45	c.525 others(62): Show c.525+8507_525+8508insCCTCTCTCCCCCCTCTCCCCTCTCTCTC CCCCATCCCTCCCTCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K21_chr1_233322724_233390148	233339398	T T	TCTCCTCC others(38): Show TCTCCTCCTTCTCCTCCTCCTCCTCCTCCTTCTCCTCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02155.hp2 HG03017.hp2 others(7): Show HG00558.hp1 HG02155.hp2 HG03017.hp2 NA18966.hp2 NA18978.hp1 NA18999.hp2 NA19009.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0010 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0010 a0002c0002t0023	a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0003t0002g0279 others(7): Show a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0003t0002g0279 a0001c0003t0002g0294 a0001c0003t0002g0295 a0001c0003t0002g0296 a0001c0003t0002g0297 a0001c0003t0002g0304 a0002c0002t0010g0270 a0002c0002t0023g0276	10	372	0.0269	45	c.806 others(62): Show c.806-7036_806-7035insTCTCCTCCTCCTCCTCCTCCTTCTCCTC CTCCTTCTCCTCCTCCT	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K6_chr1_27350184_27371961	27352146	C C	CCTGACCA others(38): Show CCTGACCAACATGGTGAAACCCCATCTCTATCAAAAGTACAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0022 a0002c0010t0001g0022	1	412	0.0024	45	c.32 others(56): Show c.3200_*3244dupTTTCTTGTACTTTTGATAGAGATGGGGTTTCACC ATGTTGGTCAG	MAP3K6	ENSG00000142733.18	transcript	ENST00000357582.3	protein_coding		3037		chr1	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG03654.hp1 HG03654.hp2 others(2): Show HG01169.hp2 HG03654.hp1 HG03654.hp2 NA18946.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0001 a0001c0002t0001 a0003c0006t0001	a0001c0002t0001g0002 a0001c0002t0001g0155 a0001c0002t0001g0169 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0155 a0001c0002t0001g0169 a0003c0006t0001g0012	5	386	0.0130	45	c.-16 others(56): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	386	0.0026	45	c.-16 others(56): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGACA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	386	0.0026	45	c.-16 others(56): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(38): Show GAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19064.hp1 HG03130.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0156 a0001c0001t0001g0074 a0001c0001t0001g0156	2	248	0.0081	45	c.68- others(62): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCC TTCTTCTTCTTCTTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(38): Show GAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	248	0.0040	45	c.68- others(62): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTTCTTCTTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK11_chr22_50258713_50275380	50265881	C C	CCAGCCCA others(38): Show CCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp2 HG02055.hp1 others(25): Show HG01361.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0002 a0001c0001t0001 a0001c0001t0002 a0002c0004t0002	a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0002g0006 others(6): Show a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0076 a0002c0004t0002g0068	28	428	0.0654	45	c.763 others(60): Show c.763-222_763-221insAGGGCCCAGCAAGCAGTGCCTGGCCAGGGC AGTGGGGGTGGGCTG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	9/11			chr22	TogoVar
MAPK12_chr22_50247901_50266683	50265881	C C	CCAGCCCA others(38): Show CCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02055.hp2 others(28): Show HG01361.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0017 a0001c0001 a0002c0004 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0002c0004t0005 a0006c0017t0002	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0131 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0131 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0061 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0002c0004t0001g0111 a0002c0004t0005g0018 a0006c0017t0002g0077	31	444	0.0698	45	c.-43 others(56): Show c.-4373_-4372insAGGGCCCAGCAAGCAGTGCCTGGCCAGGGCAGTG GGGGTGGGCTG	MAPK12	ENSG00000188130.14	transcript	ENST00000215659.13	protein_coding		4199		chr22	TogoVar
MAPT_chr17_45889554_46033334	45903945	A A	ATATATAT others(38): Show ATATATATTATATATTATATATTTATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	253	0.0040	45	c.-18 others(62): Show c.-18+9281_-18+9282insTATATATAATATATATTATATATTATAT ATTATATATTATATATT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45903952	T T	TTATATAT others(38): Show TTATATATTATATATTATATATTATATATTATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	253	0.0040	45	c.-18 others(62): Show c.-18+9310_-18+9311insATATATATTATATATTATATATTATATA TTATATATTTATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARS1_chr12_57483068_57521652	57493789	T T	TTATAATA others(38): Show TTATAATATATTATATATTATATATTATATTATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02622.hp2 others(8): Show HG02257.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 others(8): Show a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0231 a0001c0003t0001g0206 a0001c0003t0001g0207	11	288	0.0382	45	c.770 others(62): Show c.770+3149_770+3150insATATATTATATATTATATATTATATTAT ATAATATATATTATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19011.hp2 NA18945.hp2 NA19011.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0046 a0003c0002t0001g0046	2	422	0.0047	45	c.-34 others(60): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD3L3_chr19_7051207_7063676	7062182	T T	TTATATAT others(38): Show TTATATATAATTATATATATAATTATATTATATATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18941.hp2 HG02922.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0002g0003	2	288	0.0069	45	c.-35 others(56): Show c.-3578_-3577insTATATAATTATATATATAATATAATTATATATAT AATTATATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3507		chr19	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAAGA others(38): Show AGAGAAGAGAAGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	336	0.0030	45	c.100 others(64): Show c.100-15872_100-15871insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCTTCTCTTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8912301	A A	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0061 a0001c0001t0011g0061	1	162	0.0062	45	c.300 others(62): Show c.300-3586_300-3585insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT2_chr2_8847690_9008684	8912373	G G	GAAAGAAG others(38): Show GAAAGAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	162	0.0062	45	c.300 others(62): Show c.300-3658_300-3657insTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTCTTTCTTTCTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBTD1_chr17_51172425_51265049	51179486	A A	ATATATAT others(38): Show ATATATATATATATTTTTATATATATATATATATATATATTTATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0260 a0001c0001t0158g0260	1	340	0.0029	45	c.10 others(56): Show c.1089_*1090insATATAAATATATATATATATATATATATAAAAAT ATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1089		chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21888826	A A	ATATACAC others(38): Show ATATACACACATATATGTGTGTATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	308	0.0033	45	c.61 others(56): Show c.6171_*6172insTATACACACATATATGTGTGTATATATATATATA TATATATATAT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3404		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TATACACA others(38): Show TATACACACATATATGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 NA18974.hp1 NA19055.hp1 HG02698.hp1 NA18974.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0117 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0117	3	308	0.0097	45	c.61 others(56): Show c.6172_*6173insATACACACATATATGTGTGTATATATATATATAT ATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3405		chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	45	c.-25 others(56): Show c.-2544_-2543insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGACAA others(38): Show GAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA20129.hp1 HG01109.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0012 a0001c0001t0002 a0004c0004t0012	a0001c0001t0002g0119 a0004c0004t0012g0019 a0001c0001t0002g0119 a0004c0004t0012g0019	2	176	0.0114	45	c.275 others(64): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTGTCTTG TCTTGTCTTGTCTTGTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGAGAA others(38): Show GAAGAGAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 NA18522.hp1 others(1): Show HG02257.hp2 HG02717.hp1 NA18522.hp1 NA19043.hp2	a0004 a0013 a0014 a0004 a0013 a0014	a0004c0004 a0013c0013 a0014c0012 a0004c0004 a0013c0013 a0014c0012	a0004c0004t0023 a0013c0013t0002 a0013c0013t0026 others(1): Show a0004c0004t0023 a0013c0013t0002 a0013c0013t0026 a0014c0012t0009	a0004c0004t0023g0169 a0013c0013t0002g0155 a0013c0013t0026g0174 others(1): Show a0004c0004t0023g0169 a0013c0013t0002g0155 a0013c0013t0026g0174 a0014c0012t0009g0173	4	176	0.0227	45	c.275 others(64): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTGTCTTG TCTTGTCTTGTCTTCTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361105	G G	GACAAGAC others(38): Show GACAAGACAAGACAAGACAAGACAAGACAAGAAAAGAAAAGAAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0127 a0009c0010t0002g0127	1	176	0.0057	45	c.275 others(64): Show c.275+18191_275+18192insATTTTCTTTTCTTTTCTTGTCTTGTC TTGTCTTGTCTTGTCTTGT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2_chrX_139576770_139713167	139709469	T T	TATACATA others(38): Show TATACATAGCATATATAGCATATACTATATACATAGTATATATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	249	0.0040	45	c.-14 others(56): Show c.-1409_-1408insGCTATATATACTATGTATATAGTATATGCTATAT ATGCTATGTAT	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1303		chrX	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(38): Show GAGAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	414	0.0024	45	c.-41 others(56): Show c.-4194_-4193insAGAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAA GAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCPH1_chr8_6401627_6653508	6409976	A A	ATTTTTTT others(38): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0029 a0029	a0029c0058 a0029c0058	a0029c0058t0025 a0029c0058t0025	a0029c0058t0025g0224 a0029c0058t0025g0224	1	262	0.0038	45	c.114 others(60): Show c.114+618_114+619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results (Total: 2640 hits)