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
LRRK1_chr15_100914357_101083257	100941418	GTGTGTGT others(39): Show GTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTGTGTGTCTATGTCTC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0233 a0001c0046t0233	a0001c0046t0233g0119 a0001c0046t0233g0119	1	338	0.0030	-46	c.97+ others(63): Show c.97+16699_97+16744delCTGTGTGTGTGTGTGTGTCTGTGTGTGT CTATGTCTCTGTGTGTGT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRTM4_chr2_76742685_77527376	76784492	GTTTTTCT others(39): Show GTTTTTCTCACTGGGTGATAAGATTAAGCTGATACTTAGATTTCTCT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	128	0.0078	-46	c.155 others(67): Show c.1552-35622_1552-35577delAGAGAAATCTAAGTATCAGCTTAA TCTTATCACCCAGTGAGAAAAA	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LSG1_chr3_194635791_194677191	194645495	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACAGACAGACACAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0353 a0002c0002t0014g0353	1	408	0.0025	-46	c.162 others(63): Show c.1623+623_1623+668delGTGTGTCTGTCTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645525	CACACAGA others(39): Show CACACAGACAGACACACACACACACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03490.hp1 HG03492.hp2 HG02818.hp1 HG03490.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0002c0002t0025 a0001c0001t0018 a0002c0002t0025	a0001c0001t0018g0277 a0002c0002t0025g0013 a0001c0001t0018g0277 a0002c0002t0025g0013	3	408	0.0074	-46	c.162 others(63): Show c.1623+593_1623+638delCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTCTGTCTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645529	CAGACAGA others(39): Show CAGACAGACACACACACACACACACACACACACACACACACAGACAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02717.hp1 HG03209.hp2 others(1): Show HG00642.hp2 HG02717.hp1 HG03209.hp2 HG03927.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0019 a0001c0001 a0008c0019	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0008c0019t0079	a0001c0001t0003g0252 a0001c0001t0013g0305 a0001c0001t0014g0070 others(1): Show a0001c0001t0003g0252 a0001c0001t0013g0305 a0001c0001t0014g0070 a0008c0019t0079g0351	4	408	0.0098	-46	c.162 others(63): Show c.1623+589_1623+634delCTGTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTCTGTCT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645531	GACAGACA others(39): Show GACAGACACACACACACACACACACACACACACACACACAGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18977.hp2 NA19066.hp1 HG02015.hp2 NA18977.hp2 NA19066.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0015 a0001c0001 a0002c0002 a0014c0015	a0001c0001t0003 a0002c0002t0001 a0014c0015t0003 a0001c0001t0003 a0002c0002t0001 a0014c0015t0003	a0001c0001t0003g0287 a0002c0002t0001g0323 a0014c0015t0003g0281 a0001c0001t0003g0287 a0002c0002t0001g0323 a0014c0015t0003g0281	3	408	0.0074	-46	c.162 others(63): Show c.1623+587_1623+632delGTCTGTCTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTCTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194645535	GACACACA others(39): Show GACACACACACACACACACACACACACACACACACAGACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0069 a0002c0002t0069	a0002c0002t0069g0357 a0002c0002t0069g0357	1	408	0.0025	-46	c.162 others(63): Show c.1623+583_1623+628delGTGTGTCTGTCTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSM8_chr7_118179164_118209035	118206968	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 NA18955.hp1 NA18977.hp1 others(2): Show HG01952.hp2 NA18955.hp1 NA18977.hp1 NA18983.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0091 a0001c0001t0007 a0001c0001t0091	a0001c0001t0007g0004 a0001c0001t0007g0058 a0001c0001t0091g0004 a0001c0001t0007g0004 a0001c0001t0007g0058 a0001c0001t0091g0004	5	414	0.0121	-46	c.14 others(59): Show c.14967_*15012delTATATATATATATATATATATATATATATATA TATATATATATATA	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding		2934		chr7	TogoVar
LTC4S_chr5_179788986_179801647	179800149	GGGCAGGG others(39): Show GGGCAGGGCAGGGCAACGCAGGGCTTGGGGCTGACCTGCACGTAGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-46	c.37 others(57): Show c.3756_*3801delGGCAGGGCAGGGCAACGCAGGGCTTGGGGCTGAC CTGCACGTAGTA	LTC4S	ENSG00000213316.10	transcript	ENST00000292596.15	protein_coding		3503		chr5	TogoVar
LUZP2_chr11_24492053_25087638	24774481	TATATATA others(39): Show TATATATATAAAGAATATATATAGAATATATTCTATATATATGTAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01891.hp2 others(12): Show HG01109.hp2 HG01884.hp1 HG01891.hp2 HG02129.hp1 HG02129.hp2 HG02280.hp1 HG02523.hp1 HG02683.hp2 HG03209.hp1 HG03540.hp2 HG03834.hp1 HG04228.hp2 NA18981.hp1 NA19043.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0033 a0001c0001t0034 a0001c0003t0032 a0002c0002t0001 a0002c0002t0026 a0003c0004t0018 a0003c0004t0036	a0001c0001t0002g0019 a0001c0001t0003g0081 a0001c0001t0004g0062 others(12): Show a0001c0001t0002g0019 a0001c0001t0003g0081 a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0001t0010g0037 a0001c0001t0011g0107 a0001c0001t0033g0112 a0001c0001t0034g0053 a0001c0003t0032g0056 a0002c0002t0001g0026 a0002c0002t0001g0066 a0002c0002t0001g0083 a0002c0002t0026g0010 a0003c0004t0018g0098 a0003c0004t0036g0070	15	116	0.1293	-46	c.396 others(65): Show c.396+11477_396+11522delTATTCTATATATATGTAGAATATATA TAAAGAATATATATAGAATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	2057981	CAGAGGAG others(39): Show CAGAGGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTGGCCAGAGG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02922.hp1 others(2): Show HG01081.hp1 HG02055.hp1 HG02922.hp1 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0251 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253	5	264	0.0189	-46	c.121 others(67): Show c.1218+11167_1218+11212delCCTCTGGCCACACTCCCTCTCCAG CCCCGCGCCTCTCCTCTCCTCT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	TTCTAGGA others(39): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(60): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04228.hp1 NA18942.hp1 NA18944.hp1 NA18952.hp2 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18985.hp2 NA18999.hp1 NA19009.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19081.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0007t0004 a0002c0002t0001 a0002c0005t0002	a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0107 others(60): Show a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0166 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0005g0137 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0042 a0001c0003t0001g0061 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0004t0001g0092 a0001c0004t0001g0098 a0001c0004t0001g0100 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0007t0004g0078 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0005t0002g0121	63	264	0.2386	-46	c.986 others(63): Show c.986+2761_986+2806delGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	CCCTTCAC others(39): Show CCCTTCACCACCATCACCACCACCACCATCACCACCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 NA19001.hp2 HG01358.hp2 HG01496.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0022 a0001c0001t0001g0088 a0001c0001t0019g0052 a0001c0001t0001g0022 a0001c0001t0001g0088 a0001c0001t0019g0052	3	362	0.0083	-46	c.391 others(61): Show c.391+747_391+792delCTTCACCACCATCACCACCACCACCATCAC CACCACCATCACCATC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579442	CACCATCA others(39): Show CACCATCACCACCACCCTTCACCACCACAATGACCATCACTACCACT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0055 a0002c0004t0003g0056	2	362	0.0055	-46	c.391 others(62): Show c.391+960_391+1005delCTTCACCACCACAATGACCATCACTACCA CTACCATCACCACCACC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAOA_chrX_43651299_43751817	43657120	GTATGAAC others(39): Show GTATGAACTGTGTTTATATATATATATGAACTGTGTTTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03516.hp1 HG04184.hp1 others(4): Show HG00408.hp2 HG03516.hp1 HG04184.hp1 HG04199.hp1 NA18966.hp1 NA19010.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0010 a0001c0001t0001 a0001c0003t0010	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0003t0010g0163	7	283	0.0247	-46	c.73+ others(59): Show c.73+802_73+847delGAACTGTGTTTATATATATATATGAACTGTGT TTATATATATATAT	MAOA	ENSG00000189221.11	transcript	ENST00000338702.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAP2K4_chr17_12015877_12148828	12069890	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	322	0.0031	-46	c.219 others(65): Show c.219-11449_219-11404delATATATATATATATATATATATATAT ATATATATATATATATATAT	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(39): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01934.hp1 others(8): Show HG00741.hp2 HG01099.hp1 HG01934.hp1 HG01934.hp2 HG02257.hp1 HG02630.hp2 HG03225.hp1 HG04199.hp2 NA18944.hp1 NA18944.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 others(8): Show a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0002g0139 a0001c0001t0004g0137 a0001c0001t0006g0136 a0002c0002t0001g0138	11	328	0.0335	-46	c.-38 others(61): Show c.-38+473_-38+518delCACACACACACACACACACACACACACACA CACACACACACACACA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K15_chrX_19355059_19520508	19452305	GAAGAGAA others(39): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	163	0.0061	-46	c.995 others(63): Show c.995+4562_995+4607delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452342	AGAGAAGA others(39): Show AGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	163	0.0061	-46	c.995 others(63): Show c.995+4525_995+4570delCTTTTCTTTTCTCTCTTCTCTTCTCTTC TCTTCTCTTTCTCTTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP7D2_chrX_20001713_20121907	20094496	ATATATAT others(39): Show ATATATATATATATATATATGTATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19005.hp1 NA19091.hp1 others(1): Show HG01192.hp1 NA19005.hp1 NA19091.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0162 a0002c0002t0001g0166 others(1): Show a0002c0002t0001g0143 a0002c0002t0001g0162 a0002c0002t0001g0166 a0002c0002t0001g0167	4	210	0.0191	-46	c.130 others(65): Show c.130+22208_130+22253delCATATATATATATATATATATATATA CATATATATATATATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAPK8IP3_chr16_1701195_1775351	1736758	CCGTGTGA others(39): Show CCGTGTGACCGTCTGTGTGACCATCCGTGTGTGACCGTCCGTGTGAG	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0236 a0001c0003t0003g0236	1	330	0.0030	-46	c.603 others(63): Show c.603-6561_603-6516delTGTGTGACCATCCGTGTGTGACCGTCCG TGTGAGCGTGTGACCGTC	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MARCHF1_chr4_163519718_164389019	163733201	ATATATAT others(39): Show ATATATATATATATATATATACACGTGTATATATATATATACACGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG03490.hp2 HG02257.hp1 HG03486.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0018 a0001c0002t0003 a0001c0001t0013 a0001c0001t0018 a0001c0002t0003	a0001c0001t0013g0015 a0001c0001t0018g0079 a0001c0002t0003g0016 a0001c0001t0013g0015 a0001c0001t0018g0079 a0001c0002t0003g0016	3	102	0.0294	-46	c.112 others(65): Show c.112-32384_112-32339delCACGTGTATATATATATATACACGTG TATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164346604	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp1 HG03041.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0011 a0002c0003t0001 a0001c0002t0011 a0002c0003t0001	a0001c0002t0011g0013 a0002c0003t0001g0027 a0001c0002t0011g0013 a0002c0003t0001g0027	2	102	0.0196	-46	c.-32 others(67): Show c.-323+37220_-323+37265delTATATATATATATATATATATATA TATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(39): Show CTATATAACTATATAACTATATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 NA18948.hp1 NA18959.hp1 others(3): Show HG03139.hp2 NA18948.hp1 NA18959.hp1 NA18979.hp1 NA19002.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0147 a0001c0002t0130 a0001c0001t0014 a0001c0001t0147 a0001c0002t0130	a0001c0001t0014g0193 a0001c0001t0014g0194 a0001c0001t0014g0196 others(3): Show a0001c0001t0014g0193 a0001c0001t0014g0194 a0001c0001t0014g0196 a0001c0001t0014g0255 a0001c0001t0147g0195 a0001c0002t0130g0131	6	284	0.0211	-46	c.19 others(57): Show c.1946_*1991delACTATATAACTATATATATATATATATATATATA TATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(39): Show CTATATAACTATATATATATATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 NA20129.hp1 HG02723.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0124 a0001c0001t0122 a0001c0001t0124	a0001c0001t0122g0024 a0001c0001t0124g0004 a0001c0001t0122g0024 a0001c0001t0124g0004	2	284	0.0070	-46	c.19 others(57): Show c.1954_*1999delACTATATATATATATATATATATATATATATATA TATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp1 HG02559.hp2 others(1): Show HG01106.hp1 HG02109.hp1 HG02559.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0130 a0001c0001t0149 a0001c0001t0023 a0001c0001t0130 a0001c0001t0149	a0001c0001t0023g0187 a0001c0001t0023g0188 a0001c0001t0130g0223 others(1): Show a0001c0001t0023g0187 a0001c0001t0023g0188 a0001c0001t0130g0223 a0001c0001t0149g0076	4	340	0.0118	-46	c.122 others(65): Show c.1225-1726_1225-1681delATATATATATATATATATATATATAT ATATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MCC_chr5_113017106_113493453	113145761	CACACACA others(39): Show CACACACACACACACACACACACAAACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG01070.hp1 others(11): Show HG00323.hp2 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG02818.hp2 HG03209.hp1 NA18972.hp2 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19083.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0008 others(4): Show a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0012 a0001c0027 a0002c0001	a0001c0003t0001 a0001c0004t0002 a0001c0008t0031 others(7): Show a0001c0003t0001 a0001c0004t0002 a0001c0008t0031 a0001c0010t0005 a0001c0010t0028 a0001c0012t0005 a0001c0012t0013 a0001c0027t0001 a0002c0001t0002 a0002c0001t0003	a0001c0003t0001g0101 a0001c0004t0002g0068 a0001c0004t0002g0069 others(11): Show a0001c0003t0001g0101 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0001c0012t0005g0081 a0001c0012t0013g0088 a0001c0012t0013g0090 a0001c0012t0013g0091 a0001c0027t0001g0089 a0002c0001t0002g0133 a0002c0001t0003g0136	14	160	0.0875	-46	c.742 others(63): Show c.742-2447_742-2402delTTGTGTGTGTGTGTGTGTGTGTTTGTGT GTGTGTGTGTGTGTGTGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	4/18			chr5	TogoVar
MCM10_chr10_13156558_13216110	13204990	GTATGTAT others(39): Show GTATGTATGTATGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(186): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0022	a0001c0001 a0001c0002 a0001c0030 others(10): Show a0001c0001 a0001c0002 a0001c0030 a0002c0003 a0002c0014 a0003c0007 a0004c0005 a0005c0026 a0006c0010 a0007c0016 a0008c0013 a0012c0028 a0022c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0002t0005 a0001c0002t0024 a0001c0030t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0009 a0002c0003t0012 a0002c0003t0019 a0002c0014t0003 a0003c0007t0003 a0004c0005t0004 a0005c0026t0004 a0006c0010t0002 a0007c0016t0002 a0008c0013t0003 a0012c0028t0003 a0022c0031t0003	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0100 others(173): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0169 a0001c0001t0001g0207 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0001g0295 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0043 a0001c0001t0002g0055 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0322 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0369 a0001c0001t0002g0386 a0001c0001t0002g0387 a0001c0001t0002g0398 a0001c0001t0003g0057 a0001c0001t0003g0078 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0003g0123 a0001c0001t0003g0159 a0001c0001t0003g0165 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0003g0233 a0001c0001t0003g0300 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0323 a0001c0001t0004g0320 a0001c0001t0005g0006 a0001c0001t0005g0018 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0304 a0001c0001t0005g0367 a0001c0001t0007g0071 a0001c0001t0007g0073 a0001c0001t0007g0079 a0001c0001t0007g0204 a0001c0001t0007g0223 a0001c0001t0007g0333 a0001c0001t0007g0389 a0001c0001t0013g0054 a0001c0001t0013g0342 a0001c0001t0016g0134 a0001c0001t0025g0003 a0001c0001t0026g0049 a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0205 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0363 a0001c0002t0005g0107 a0001c0002t0024g0001 a0001c0030t0003g0359 a0002c0003t0001g0329 a0002c0003t0002g0121 a0002c0003t0003g0011 a0002c0003t0003g0042 a0002c0003t0003g0142 a0002c0003t0003g0158 a0002c0003t0003g0160 a0002c0003t0003g0163 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0224 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0277 a0002c0003t0003g0279 a0002c0003t0003g0286 a0002c0003t0003g0287 a0002c0003t0003g0306 a0002c0003t0003g0309 a0002c0003t0003g0312 a0002c0003t0003g0330 a0002c0003t0005g0027 a0002c0003t0005g0173 a0002c0003t0005g0390 a0002c0003t0006g0164 a0002c0003t0006g0383 a0002c0003t0006g0384 a0002c0003t0006g0385 a0002c0003t0009g0102 a0002c0003t0009g0103 a0002c0003t0009g0392 a0002c0003t0009g0394 a0002c0003t0012g0011 a0002c0003t0012g0150 a0002c0003t0019g0041 a0002c0014t0003g0161 a0002c0014t0003g0162 a0003c0007t0003g0046 a0003c0007t0003g0047 a0003c0007t0003g0048 a0003c0007t0003g0053 a0003c0007t0003g0318 a0004c0005t0004g0128 a0005c0026t0004g0315 a0006c0010t0002g0019 a0006c0010t0002g0174 a0006c0010t0002g0321 a0007c0016t0002g0192 a0007c0016t0002g0332 a0008c0013t0003g0022 a0012c0028t0003g0339 a0022c0031t0003g0278	189	432	0.4375	-46	c.249 others(63): Show c.2498+630_2498+675delGTATGTATGTATATATATATATATATAT ATATATATATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCTP1_chr5_94698690_95290094	95207945	GAGGGAGA others(39): Show GAGGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	98	0.0102	-46	c.720 others(65): Show c.720+75865_720+75910delTTCTCTCTCTCTCCCTCTCTCTCCCT CTCTCTCCCTCTCTCTCCCT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(39): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	398	0.0025	-46	c.-18 others(57): Show c.-1886_-1841delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDK_chr11_46376669_46388801	46384971	TGCAGCCA others(39): Show TGCAGCCACAGAGCCTCTTCTGAACTTCCTCCTCAGCAAACGTGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	310	0.0032	-46	c.14 others(57): Show c.1478_*1523delGCAGCCACAGAGCCTCTTCTGAACTTCCTCCTCA GCAAACGTGAAC	MDK	ENSG00000110492.17	transcript	ENST00000395566.9	protein_coding		1171		chr11	TogoVar
MDM2_chr12_68803177_68850544	68833288	TATATATA others(39): Show TATATATATTTATATAAATATAAAAATATAATTATATAAATATAAAA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18986.hp2 NA19084.hp2 NA18982.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0079 a0001c0001t0004g0121 a0001c0001t0004g0049 a0001c0001t0004g0079 a0001c0001t0004g0121	3	388	0.0077	-46	c.685 others(63): Show c.685-2528_685-2483delATAAATATAAAAATATAATTATATAAAT ATAAAAATATATATTTAT	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ME2_chr18_50874118_50959257	50959178	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0116 a0001c0001t0086g0116	1	342	0.0029	-46	c.11 others(59): Show c.11995_*12040delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding		4922		chr18	TogoVar
MECOM_chr3_169078507_169668712	169191700	AAAAGAAA others(39): Show AAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp1 HG02132.hp2 others(7): Show HG00408.hp2 HG02056.hp1 HG02132.hp2 HG02809.hp2 HG03225.hp1 HG04204.hp2 NA18952.hp2 NA18975.hp2 NA19002.hp1 NA19070.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0010 others(2): Show a0001c0001 a0002c0002 a0002c0010 a0003c0005 a0005c0014	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0002c0002t0004 a0002c0010t0002 a0003c0005t0041 a0005c0014t0019	a0001c0001t0004g0062 a0001c0001t0004g0072 a0001c0001t0005g0101 others(7): Show a0001c0001t0004g0062 a0001c0001t0004g0072 a0001c0001t0005g0101 a0001c0001t0006g0121 a0001c0001t0012g0028 a0001c0001t0014g0147 a0002c0002t0004g0068 a0002c0010t0002g0089 a0003c0005t0041g0100 a0005c0014t0019g0012	10	160	0.0625	-46	c.376 others(65): Show c.376-47914_376-47869delCTTTCTCTTTCTTTCTTTCTTTCTTT TTTTCTTTCTTTCTTTCTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED16_chr19_862963_898187	870749	TGGGGCAG others(39): Show TGGGGCAGGACATGGAGGGAGGGAGCCGTGTGGATTCGGGGGGACCC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03688.hp2 HG03239.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0028 a0001c0002t0001g0029	2	56	0.0357	-46	c.231 others(63): Show c.2315+242_2315+287delGGGTCCCCCCGAATCCACACGGCTCCCT CCCTCCATGTCCTGCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	13/15			chr19	TogoVar
MED16_chr19_862963_898187	871444	CAGAGTTC others(39): Show CAGAGTTCTCTCCCCGTCTCTGGCCTGTCATGAGACTCCCTCATTCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	56	0.0179	-46	c.209 others(63): Show c.2099-237_2099-192delTGAATGAGGGAGTCTCATGACAGGCCAG AGACGGGGAGAGAACTCT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MEIS3_chr19_47398124_47424527	47417499	AAGCTTGA others(39): Show AAGCTTGAAGCCCTCCAGGTCCCCTGGAGCTGCCTCGGTGGGGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0202 a0001c0001t0052g0202	1	251	0.0040	-46	c.13- others(59): Show c.13-195_13-150delCACTCCCCACCGAGGCAGCTCCAGGGGACCTG GAGGGCTTCAAGCT	MEIS3	ENSG00000105419.18	transcript	ENST00000558555.6	protein_coding	1/12			chr19	TogoVar
MEIS3_chr19_47398124_47424527	47418714	GCAGAGAG others(39): Show GCAGAGAGAGGGGGATAGAGAGGCAGAAAGAGGGGGGAGACCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	251	0.0040	-46	c.12+ others(59): Show c.12+310_12+355delTCCCTGGTCTCCCCCCTCTTTCTGCCTCTCTA TCCCCCTCTCTCTG	MEIS3	ENSG00000105419.18	transcript	ENST00000558555.6	protein_coding	1/12			chr19	TogoVar
MFGE8_chr15_88893683_88918379	88915876	ATATATAT others(39): Show ATATATATATGTATATATATGTGTATATATATATACATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0237 a0001c0002t0009g0237	1	436	0.0023	-46	c.-26 others(57): Show c.-2603_-2558delCATATATATATGTATATATATATACACATATATA TACATATATATA	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		2498		chr15	TogoVar
MFSD14B_chr9_94369569_94466042	94374494	CTGCCCGG others(39): Show CTGCCCGGCGCCGGCCTGTGGGGAGGCGGGGCGGGGCACAGTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	350	0.0029	-46	c.-32 others(55): Show c.-325_-280delTGCCCGGCGCCGGCCTGTGGGGAGGCGGGGCGGGGC ACAGTCTCTT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding		74		chr9	TogoVar
MFSD14B_chr9_94369569_94466042	94452650	TATATATT others(39): Show TATATATTCATATATATTCATATATATTCATATATTCATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	350	0.0029	-46	c.915 others(63): Show c.915+1150_915+1195delTCATATATTCATATATATTCATATATTC ATATATATTCATATATAT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
MGAM_chr7_141990879_142111747	142103926	TCAGCTCA others(39): Show TCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCATGCCATTCTTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	316	0.0032	-46	c.818 others(63): Show c.8184+489_8184+534delAGCTCACTGCAAGCTCTGCCTCCCAGGT TCATGCCATTCTTCTGCC	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	70/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGMT_chr10_129462241_129775983	129679303	TGCTGTGG others(39): Show TGCTGTGGGACCCTGCGGGCTTCCAGAACTGGCGTGAGGTCCGAGTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0052 a0001c0001t0022g0052	1	194	0.0052	-46	c.126 others(65): Show c.126-28567_126-28522delGAACTGGCGTGAGGTCCGAGTCGCTG TGGGACCCTGCGGGCTTCCA	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MIA2_chr14_39228915_39355694	39277674	ATATATAT others(39): Show ATATATATATATATGTGTGTATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00621.hp1 others(25): Show HG00423.hp2 HG00544.hp2 HG00621.hp1 HG01109.hp1 HG01167.hp2 HG01433.hp1 HG01884.hp1 HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02698.hp2 HG02970.hp2 HG03225.hp1 HG03471.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 NA18944.hp1 NA18971.hp2 NA18979.hp1 NA18989.hp1 NA19001.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0013 a0025	a0001c0002 a0002c0001 a0002c0046 others(8): Show a0001c0002 a0002c0001 a0002c0046 a0003c0004 a0003c0012 a0004c0013 a0006c0005 a0010c0011 a0011c0021 a0013c0015 a0025c0039	a0001c0002t0001 a0002c0001t0002 a0002c0046t0002 others(9): Show a0001c0002t0001 a0002c0001t0002 a0002c0046t0002 a0003c0004t0001 a0003c0012t0002 a0004c0013t0002 a0006c0005t0002 a0010c0011t0001 a0010c0011t0002 a0011c0021t0002 a0013c0015t0002 a0025c0039t0001	a0001c0002t0001g0167 a0001c0002t0001g0223 a0002c0001t0002g0015 others(25): Show a0001c0002t0001g0167 a0001c0002t0001g0223 a0002c0001t0002g0015 a0002c0001t0002g0016 a0002c0001t0002g0022 a0002c0001t0002g0027 a0002c0001t0002g0028 a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0042 a0002c0001t0002g0043 a0002c0001t0002g0052 a0002c0001t0002g0056 a0002c0001t0002g0064 a0002c0001t0002g0075 a0002c0001t0002g0099 a0002c0046t0002g0097 a0003c0004t0001g0310 a0003c0012t0002g0170 a0003c0012t0002g0177 a0004c0013t0002g0128 a0006c0005t0002g0245 a0006c0005t0002g0250 a0010c0011t0001g0031 a0010c0011t0002g0045 a0011c0021t0002g0085 a0013c0015t0002g0012 a0025c0039t0001g0168	28	368	0.0761	-46	c.201 others(63): Show c.2019+623_2019+668delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39277702	ATATATAT others(39): Show ATATATATATATATGTGTGTATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0029 a0029	a0029c0040 a0029c0040	a0029c0040t0002 a0029c0040t0002	a0029c0040t0002g0004 a0029c0040t0002g0004	1	368	0.0027	-46	c.201 others(63): Show c.2019+651_2019+696delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MILR1_chr17_64444115_64473643	64458097	TCTGCCTT others(39): Show TCTGCCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCTTGTATGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	394	0.0025	-46	c.652 others(61): Show c.652+427_652+472delTTTTCCTTCCTTCCTTCCTTCCTTCTTGTA TGCCTGCCTTTCTTTC	MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINAR1_chr15_79427336_79477304	79452682	GTGTGTGT others(39): Show GTGTGTGTGTGTGGGTGTCTGGATGAGTGTGTGGGTGTGGGTGAGTC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0041 a0003c0005t0006g0041	1	390	0.0026	-46	c.-50 others(63): Show c.-50-3409_-50-3364delTGTGTGGGTGTCTGGATGAGTGTGTGGG TGTGGGTGAGTCTGTGTG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MLLT3_chr9_20336669_20627499	20565942	ATATATAT others(39): Show ATATATATATATTTATATATATATATTTATATATATATATATTTATT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0034 a0002c0008t0034	a0002c0008t0034g0004 a0002c0008t0034g0004	1	186	0.0054	-46	c.193 others(65): Show c.193+54666_193+54711delAATAAATATATATATATATAAATATA TATATATAAATATATATATA	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10			chr9	TogoVar
MLYCD_chr16_83894115_83932031	83917215	GTCTCTGT others(39): Show GTCTCTGTGTGGATCAGTGCACGTCTGTGTGCGTGTGCCCGAGCGTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0195 a0001c0001t0094g0195	1	432	0.0023	-46	c.17 others(57): Show c.1730_*1775delCTGTGTGGATCAGTGCACGTCTGTGTGCGTGTGC CCGAGCGTCTCT	MLYCD	ENSG00000103150.7	transcript	ENST00000262430.6	protein_coding	5/5	1730	INFO_REALIGN_3_PRIME	chr16	TogoVar
MMS19_chr10_97453324_97503422	97492912	ATATTATA others(39): Show ATATTATAAATAGGGTACCATGTTAGGGCTTAAGATAGAAATATGGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	372	0.0027	-46	c.112 others(63): Show c.112+5315_112+5360delCCCATATTTCTATCTTAAGCCCTAACAT GGTACCCTATTTATAATA	MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30			chr10	TogoVar

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Search Results (Total: 1419 hits)