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.

⚠️ 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
MAST4_chr5_66591393_67174593	67028163	A A	AACAAAAG others(10): Show AACAAAAGTTGTTGTGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01168.hp2 others(17): Show HG00323.hp1 HG00741.hp2 HG01168.hp2 HG01255.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG04199.hp2 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0014 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0009 others(11): Show a0001c0001 a0001c0002 a0001c0009 a0001c0036 a0002c0005 a0002c0013 a0003c0004 a0004c0015 a0005c0006 a0008c0010 a0014c0026 a0017c0030 a0018c0034 a0019c0020	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(15): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0002t0024 a0001c0009t0012 a0001c0036t0012 a0002c0005t0010 a0002c0013t0017 a0003c0004t0002 a0004c0015t0004 a0005c0006t0001 a0008c0010t0013 a0014c0026t0001 a0017c0030t0004 a0018c0034t0002 a0019c0020t0013	a0001c0001t0003g0047 a0001c0001t0003g0051 a0001c0001t0008g0087 others(17): Show a0001c0001t0003g0047 a0001c0001t0003g0051 a0001c0001t0008g0087 a0001c0001t0009g0042 a0001c0001t0011g0103 a0001c0001t0014g0035 a0001c0002t0024g0049 a0001c0009t0012g0005 a0001c0036t0012g0015 a0002c0005t0010g0099 a0002c0013t0017g0010 a0003c0004t0002g0020 a0003c0004t0002g0021 a0004c0015t0004g0065 a0005c0006t0001g0094 a0008c0010t0013g0061 a0014c0026t0001g0104 a0017c0030t0004g0053 a0018c0034t0002g0011 a0019c0020t0013g0004	20	108	0.1852	17	c.675 others(36): Show c.675-26241_675-26240insACAAAAGTTGTTGTGTT		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28						chr5	TogoVar
MAT2A_chr2_85534168_85550281	85542658	A A	ACCAGTCA others(10): Show ACCAGTCAACATTATTAT	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0020 a0002c0005t0001g0020	1	418	0.0024	17	c.865 others(24): Show c.865_866insGTCAACATTATTATCCA	p.Lys others(5): Show p.Lys289fs	MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding	7/9	986/2817	866/1188	289/395		INFO_REALIGN_3_PRIME	chr2	TogoVar
MATCAP2_chr7_36319152_36372240	36337098	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00639.hp2 others(23): Show HG00099.hp2 HG00597.hp2 HG00639.hp2 HG01071.hp2 HG01099.hp2 HG01358.hp1 HG01358.hp2 HG02015.hp2 HG02056.hp2 HG02132.hp1 HG02280.hp1 HG02451.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 NA18906.hp2 NA18939.hp1 NA18964.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19066.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0067 others(22): Show a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0279 a0001c0001t0004g0161	26	388	0.0670	17	c.715 others(32): Show c.715-818_715-802dupTTTTTTTTTTTTTTTTT		MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6						chr7	TogoVar
MATK_chr19_3772973_3791381	3788142	A A	ATTATATT others(10): Show ATTATATTATATTATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	434	0.0023	17	c.-21 others(28): Show c.-2126_-2125insAATATAATATAATATAA		MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding					1762		chr19	TogoVar
MATN2_chr8_97864064_98041724	97945717	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0007 a0001c0065t0007	a0001c0065t0007g0303 a0001c0065t0007g0303	1	318	0.0031	17	c.835 others(34): Show c.835+3819_835+3820insAAATATATATATATATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97945717	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0123 a0001c0020t0002g0141 a0001c0020t0002g0123 a0001c0020t0002g0141	2	318	0.0063	17	c.835 others(34): Show c.835+3819_835+3820insATATATATATATATATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0283 a0002c0007t0003g0283	1	318	0.0031	17	c.108 others(36): Show c.1082-6308_1082-6307insAAAAAAAAATATATATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0085 a0002c0007t0003g0085	1	318	0.0031	17	c.108 others(36): Show c.1082-6308_1082-6307insAAAAAAATATATATATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0025 a0025	a0025c0044 a0025c0044	a0025c0044t0003 a0025c0044t0003	a0025c0044t0003g0071 a0025c0044t0003g0071	1	318	0.0031	17	c.108 others(36): Show c.1082-6308_1082-6307insAAAAATATATATATATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0011 a0001c0017t0002g0011	1	318	0.0031	17	c.108 others(36): Show c.1082-6308_1082-6307insAAATATATATATATATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97992745	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02735.hp1 others(1): Show HG02145.hp1 HG02257.hp1 HG02735.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0025 a0001c0001 a0001c0021 a0001c0025	a0001c0001t0002 a0001c0021t0006 a0001c0021t0011 others(1): Show a0001c0001t0002 a0001c0021t0006 a0001c0021t0011 a0001c0025t0011	a0001c0001t0002g0290 a0001c0021t0006g0281 a0001c0021t0011g0244 others(1): Show a0001c0001t0002g0290 a0001c0021t0006g0281 a0001c0021t0011g0244 a0001c0025t0011g0039	4	318	0.0126	17	c.108 others(36): Show c.1082-1726_1082-1710dupAAAAAAAAAAAAAAAAA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98000596	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00609.hp2 others(26): Show HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG01106.hp2 HG01496.hp1 HG01952.hp1 HG02293.hp1 HG02698.hp2 HG02809.hp1 HG03017.hp2 HG03139.hp2 HG03688.hp2 HG04199.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp2 NA18963.hp2 NA18964.hp2 NA18972.hp2 NA18989.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19066.hp1 NA19074.hp1 NA19083.hp1 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0059 others(1): Show a0001c0001 a0001c0027 a0001c0059 a0001c0074	a0001c0001t0002 a0001c0001t0004 a0001c0027t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0027t0002 a0001c0059t0012 a0001c0074t0012	a0001c0001t0002g0027 a0001c0001t0002g0051 a0001c0001t0002g0072 others(26): Show a0001c0001t0002g0027 a0001c0001t0002g0051 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0199 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0304 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0027t0002g0004 a0001c0027t0002g0230 a0001c0059t0012g0058 a0001c0074t0012g0147	29	318	0.0912	17	c.120 others(36): Show c.1205-3051_1205-3050insAAAAAAAAAAAAAAAAA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02145.hp1 others(4): Show HG01496.hp1 HG01884.hp2 HG02145.hp1 HG02630.hp1 HG03041.hp2 HG03491.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0001g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 others(2): Show a0001c0002t0001g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0003t0001g0021 a0001c0003t0001g0245	7	432	0.0162	17	c.223 others(34): Show c.223+2325_223+2341dupTTTTTTTTTTTTTTTTT		MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7						chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02257.hp1 HG02896.hp1 HG01515.hp2 HG02257.hp1 HG02896.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0005 a0003c0002 a0004c0005	a0003c0002t0001 a0004c0005t0002 a0003c0002t0001 a0004c0005t0002	a0003c0002t0001g0241 a0004c0005t0002g0051 a0003c0002t0001g0241 a0004c0005t0002g0051	3	422	0.0071	17	c.-34 others(32): Show c.-34-206_-34-190dupAAAAAAAAAAAAAAAAA		MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9						chr20	TogoVar
MATR3_chr5_139288740_139336677	139290438	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	282	0.0036	17	c.-35 others(28): Show c.-3545_-3544insTTTTTTTTTTTTTTTTT		MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding					3301		chr5	TogoVar
MB21D2_chr3_192791815_192922856	192859906	G G	GCACCAAC others(10): Show GCACCAACGACAGGTTCC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	298	0.0034	17	c.211 others(36): Show c.211+57707_211+57723dupGGAACCTGTCGTTGGTG		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MBD2_chr18_54146606_54229669	54168612	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	300	0.0033	17	c.841 others(34): Show c.841-2447_841-2446insTATATATATATATATAT		MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6						chr18	TogoVar
MBD2_chr18_54146606_54229669	54180890	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0024 a0001c0001t0019g0025 a0001c0001t0019g0024 a0001c0001t0019g0025	2	300	0.0067	17	c.840 others(34): Show c.840+7983_840+7984insAAAAAAAAAAAAAAAAA		MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6						chr18	TogoVar
MBD2_chr18_54146606_54229669	54211449	T T	TAAGTCAG others(10): Show TAAGTCAGCTCCCTGTAC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	300	0.0033	17	c.543 others(34): Show c.543-6309_543-6293dupGTACAGGGAGCTGACTT		MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	1/6						chr18	TogoVar
MBD3L1_chr19_8827377_8848319	8838252	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03654.hp1 HG03942.hp2 others(4): Show HG02738.hp1 HG03654.hp1 HG03942.hp2 NA18964.hp1 NA18977.hp1 NA18995.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0139 a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0139	7	428	0.0164	17	c.-10 others(36): Show c.-106-2648_-106-2632dupAAAAAAAAAAAAAAAAA		MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054760	A A	ATATTTAT others(10): Show ATATTTATTTTTAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	258	0.0039	17	c.31 others(28): Show c.3138_*3139insTATTTATTTTTAGACAC		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					3026		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061722	T T	TATATATA others(10): Show TATATATATTTAATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01109.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0017	2	288	0.0069	17	c.-31 others(28): Show c.-3118_-3117insTATAATTAAATATATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3047		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062436	T T	TAATTATA others(10): Show TAATTATATATATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(117): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp1 HG02698.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0001 a0002c0002 a0007c0009 others(1): Show a0001c0001 a0002c0002 a0007c0009 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0007c0009t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0023 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0003g0009 a0001c0001t0004g0028 a0002c0002t0001g0008 a0002c0002t0003g0022 a0002c0002t0003g0029 a0002c0002t0005g0045 a0007c0009t0001g0026 a0010c0013t0001g0030	120	288	0.4167	17	c.-38 others(28): Show c.-3832_-3831insTTATAATATATATAATT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3761		chr19	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01175.hp2 HG01243.hp1 others(6): Show HG01169.hp2 HG01175.hp2 HG01243.hp1 HG02280.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0010 a0001c0001 a0001c0003 a0006c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001 a0006c0010t0002	a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0003g0016 others(6): Show a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0003g0016 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0005g0072 a0001c0001t0008g0017 a0001c0003t0001g0075 a0006c0010t0002g0004	9	188	0.0479	17	c.-67 others(38): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18972.hp1 NA18977.hp1 NA18943.hp1 NA18972.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0010g0086 a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0010g0086	3	188	0.0160	17	c.-67 others(38): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTTTT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0002	1	188	0.0053	17	c.-67 others(38): Show c.-679-47709_-679-47693dupTTTTTTTTTTTTTTTTT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02602.hp2 NA19006.hp1 others(1): Show HG02300.hp1 HG02602.hp2 NA19006.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0009t0002	a0001c0001t0001g0136 a0001c0001t0002g0042 a0001c0001t0016g0139 others(1): Show a0001c0001t0001g0136 a0001c0001t0002g0042 a0001c0001t0016g0139 a0001c0009t0002g0043	4	188	0.0213	17	c.-67 others(38): Show c.-679-45346_-679-45330dupTTTTTTTTTTTTTTTTT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC2_chr5_90453209_90479771	90478569	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02257.hp2 HG03098.hp1 others(3): Show HG01928.hp1 HG02257.hp2 HG03098.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0010t0005	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0005g0024 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0005g0024 a0001c0002t0002g0010 a0001c0010t0005g0135	6	378	0.0159	17	c.-42 others(28): Show c.-4294_-4278dupAAAAAAAAAAAAAAAAA		MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding					3799		chr5	TogoVar
MBNL1_chr3_152263929_152470780	152325087	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18994.hp1 HG04184.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0268 a0001c0001t0002g0319 a0001c0001t0001g0268 a0001c0001t0002g0319	2	338	0.0059	17	c.174 others(36): Show c.174+24729_174+24730insCCCCCCCCCCCCCCCCC		MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97287918	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	254	0.0039	17	c.174 others(36): Show c.174+11519_174+11520insTTTTTTTTTTTTTTTTT		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 NA18906.hp2 HG01109.hp2 HG02109.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0176 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0001g0176 a0001c0001t0005g0239 a0001c0001t0005g0240	3	254	0.0118	17	c.174 others(36): Show c.174+15492_174+15508dupAAAAAAAAAAAAAAAAA		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT1_chr6_20094684_20217469	20192995	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0254 a0001c0001t0056g0254	1	336	0.0030	17	c.99+ others(34): Show c.99+19124_99+19140dupAAAAAAAAAAAAAAAAA		MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12						chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20208445	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(75): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00642.hp1 HG00673.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18967.hp1 NA18971.hp2 NA18978.hp1 NA19003.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0040 a0001c0001t0045 a0001c0001t0048 a0001c0001t0053 a0001c0001t0055 a0002c0002t0029 a0002c0002t0069 a0002c0006t0031 a0003c0003t0006 a0003c0003t0027 a0004c0004t0015 a0004c0004t0074	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0054 others(75): Show a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0091 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0273 a0001c0001t0002g0059 a0001c0001t0002g0072 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0209 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0063 a0001c0001t0003g0156 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0269 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0267 a0001c0001t0004g0272 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0073 a0001c0001t0005g0174 a0001c0001t0005g0191 a0001c0001t0005g0210 a0001c0001t0005g0268 a0001c0001t0006g0155 a0001c0001t0006g0212 a0001c0001t0007g0127 a0001c0001t0007g0170 a0001c0001t0007g0172 a0001c0001t0007g0271 a0001c0001t0008g0057 a0001c0001t0008g0285 a0001c0001t0009g0186 a0001c0001t0010g0270 a0001c0001t0011g0152 a0001c0001t0012g0187 a0001c0001t0013g0029 a0001c0001t0013g0064 a0001c0001t0013g0069 a0001c0001t0013g0168 a0001c0001t0016g0160 a0001c0001t0017g0158 a0001c0001t0021g0207 a0001c0001t0040g0189 a0001c0001t0045g0185 a0001c0001t0048g0184 a0001c0001t0053g0128 a0001c0001t0055g0071 a0002c0002t0029g0321 a0002c0002t0069g0305 a0002c0006t0031g0329 a0003c0003t0006g0070 a0003c0003t0027g0154 a0004c0004t0015g0316 a0004c0004t0074g0314	78	336	0.2321	17	c.99+ others(32): Show c.99+3690_99+3691insTTTTTTTTTTTTTTTTT		MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12						chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8984539	G G	GTGAAAGC others(10): Show GTGAAAGCCACTTGCGCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0129 a0001c0001t0047g0129	1	162	0.0062	17	c.75+ others(34): Show c.75+19000_75+19001insAGCGCAAGTGGCTTTCA		MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	1/12						chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54184114	C C	CCAAAAAT others(10): Show CCAAAAATCTCCCTCACT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0233 a0002c0003t0002g0233	1	373	0.0027	17	c.334 others(32): Show c.334-451_334-435dupAGTGAGGGAGATTTTTG		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	4/7						chr19	TogoVar
MBP_chr18_76973833_77137783	77025705	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG02970.hp1 HG01884.hp1 HG02965.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0003g0114 a0001c0002t0001g0004 a0001c0001t0001g0016 a0001c0001t0003g0114 a0001c0002t0001g0004	3	396	0.0076	17	c.140 others(34): Show c.140-8454_140-8438dupAAAAAAAAAAAAAAAAA		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77057824	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 NA19006.hp2 HG02109.hp1 HG02622.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0035 a0001c0002t0007 a0001c0001t0001 a0001c0001t0035 a0001c0002t0007	a0001c0001t0001g0139 a0001c0001t0035g0203 a0001c0002t0007g0345 a0001c0001t0001g0139 a0001c0001t0035g0203 a0001c0002t0007g0345	3	396	0.0076	17	c.139 others(34): Show c.139+8457_139+8473dupAAAAAAAAAAAAAAAAA		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77084431	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	396	0.0025	17	c.52- others(34): Show c.52-18047_52-18046insTGTGTGTGTGTGTGTGT		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77098168	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01257.hp1 HG01258.hp2 others(12): Show HG00544.hp2 HG01257.hp1 HG01258.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02523.hp1 HG02723.hp1 NA18943.hp1 NA18952.hp1 NA18979.hp1 NA18992.hp1 NA18994.hp2 NA19067.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0026 a0001c0001t0051 a0001c0002t0006 a0001c0002t0020 a0001c0002t0049 a0002c0005t0001 a0002c0006t0005	a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0002g0271 others(12): Show a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0002g0271 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0005g0235 a0001c0001t0005g0247 a0001c0001t0005g0255 a0001c0001t0026g0376 a0001c0001t0051g0387 a0001c0002t0006g0272 a0001c0002t0020g0231 a0001c0002t0049g0380 a0002c0005t0001g0126 a0002c0006t0005g0320	15	396	0.0379	17	c.51+ others(32): Show c.51+7026_51+7042dupAAAAAAAAAAAAAAAAA		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8						chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176397	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0338 a0001c0001t0064g0338	1	340	0.0029	17	c.41 others(28): Show c.4178_*4179insTTTTTTTTTTTTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1027		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0052 a0001c0001t0055g0052	1	340	0.0029	17	c.41 others(28): Show c.4153_*4154insATTTTTTTTTTTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0217 a0001c0001t0042g0217	1	340	0.0029	17	c.41 others(28): Show c.4153_*4154insATATATATATTTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179488	A A	ATATATAT others(10): Show ATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0291 a0001c0001t0100g0291	1	340	0.0029	17	c.10 others(28): Show c.1071_*1087dupATATATATATATATATA		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17				1087		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0042 a0001c0001t0045g0042	1	340	0.0029	17	c.176 others(36): Show c.1768+1452_1768+1453insATATATATATATATATT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16						chr17	TogoVar
MBTD1_chr17_51172425_51265049	51194566	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02129.hp2 NA18522.hp1 others(2): Show HG01071.hp2 HG02129.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0022 a0001c0001t0008 a0001c0001t0019 a0001c0001t0022	a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0019g0331 others(2): Show a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0019g0331 a0001c0001t0022g0078 a0001c0001t0022g0087	5	340	0.0147	17	c.137 others(34): Show c.1372+631_1372+647dupTTTTTTTTTTTTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	13/16						chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21879949	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01884.hp1 others(13): Show HG00438.hp2 HG00621.hp1 HG01884.hp1 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG03579.hp1 NA18940.hp1 NA18995.hp1 NA18999.hp1 NA19077.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0017	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0154 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0002g0270 a0001c0002t0003g0005 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0051 a0001c0002t0003g0132 a0001c0002t0017g0131	16	308	0.0520	17	c.126 others(34): Show c.1262-943_1262-927dupTTTTTTTTTTTTTTTTT		MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	9/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01175.hp2 HG00621.hp1 HG01175.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	2	396	0.0051	17	c.-22 others(28): Show c.-2267_-2266insTATATATATATATATAT		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding					1869		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(10): Show ATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02080.hp2 HG02165.hp1 others(2): Show HG00323.hp1 HG02080.hp2 HG02165.hp1 HG03492.hp1 NA19003.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	5	396	0.0126	17	c.-22 others(28): Show c.-2267_-2266insTATATATATATATATTT		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding					1869		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(10): Show ATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	17	c.-22 others(28): Show c.-2267_-2266insTATATATATATATTTTT		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding					1869		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG02523.hp1 others(3): Show HG00438.hp2 HG02135.hp1 HG02523.hp1 NA18943.hp2 NA19070.hp2 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	6	396	0.0152	17	c.-22 others(28): Show c.-2267_-2266insTATATATATATTTTTTT		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding					1869		chr16	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)