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
SEMA4D_chr9_89372235_89503113	89434076	AGTGACGT others(25): Show AGTGACGTGGACCACGCATACCACATTGTCTCC	A A	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	370	0.0027	-32	c.-24 others(53): Show c.-244+21780_-244+21811delGGAGACAATGTGGTATGCGTGGTC CACGTCAC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9131627	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0127 a0001c0001t0064g0127	1	134	0.0075	-32	c.159 others(51): Show c.1599+4845_1599+4876delGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207868	GATAGATA others(25): Show GATAGATAGATAGATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01123.hp1 others(47): Show HG00738.hp1 HG00741.hp1 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG02040.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18989.hp1 NA18991.hp1 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19068.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0002c0014 a0003c0020 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0030 a0001c0001t0033 a0001c0001t0046 a0001c0001t0054 a0001c0001t0070 a0001c0001t0078 a0001c0001t0081 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0063 a0001c0003t0012 a0001c0003t0051 a0001c0004t0001 a0001c0004t0005 a0001c0004t0010 a0001c0004t0062 a0001c0005t0001 a0001c0005t0042 a0001c0005t0048 a0001c0006t0001 a0001c0006t0044 a0001c0007t0012 a0001c0007t0016 a0001c0007t0017 a0001c0007t0034 a0001c0008t0001 a0001c0008t0004 a0001c0008t0027 a0001c0009t0001 a0001c0010t0076 a0001c0011t0073 a0002c0014t0057 a0003c0020t0071 a0005c0012t0029	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0003g0029 others(47): Show a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0001t0011g0028 a0001c0001t0011g0075 a0001c0001t0013g0036 a0001c0001t0014g0077 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0001t0016g0090 a0001c0001t0030g0032 a0001c0001t0033g0057 a0001c0001t0046g0023 a0001c0001t0054g0094 a0001c0001t0070g0117 a0001c0001t0078g0109 a0001c0001t0081g0133 a0001c0002t0001g0069 a0001c0002t0002g0099 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0009g0002 a0001c0002t0063g0100 a0001c0003t0012g0068 a0001c0003t0051g0079 a0001c0004t0001g0041 a0001c0004t0005g0050 a0001c0004t0010g0049 a0001c0004t0062g0114 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0042g0070 a0001c0005t0048g0022 a0001c0006t0001g0078 a0001c0006t0044g0009 a0001c0007t0012g0064 a0001c0007t0016g0095 a0001c0007t0017g0084 a0001c0007t0034g0033 a0001c0008t0001g0046 a0001c0008t0004g0066 a0001c0008t0027g0035 a0001c0009t0001g0045 a0001c0010t0076g0125 a0001c0011t0073g0119 a0002c0014t0057g0087 a0003c0020t0071g0108 a0005c0012t0029g0055	50	134	0.3731	-32	c.647 others(49): Show c.647-5660_647-5629delGTATCTATCTATCTATCTATCTATCTAT CTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116484499	TGGAGGCA others(25): Show TGGAGGCAAATATAAGAATAATGACAAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	304	0.0033	-32	c.963 others(49): Show c.963-1956_963-1925delTTATTTTTGTCATTATTCTTATATTTGC CTCC	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	10/18			chr5	TogoVar
SENP3_chr17_7556919_7576969	7571834	CTTTTATA others(25): Show CTTTTATATATATATATATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0019 a0001c0001t0108g0019	1	446	0.0022	-32	c.35 others(41): Show c.352_*383delTTTTATATATATATATATATATATATATATAT	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	352		chr17	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp1 HG03831.hp2 NA18747.hp2 others(1): Show HG03492.hp1 HG03831.hp2 NA18747.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0003 a0001c0001t0026g0036 a0001c0001t0026g0003 a0001c0001t0026g0036	4	446	0.0090	-32	c.39 others(41): Show c.395_*426delTATATATATATATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	395	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571878	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG02723.hp2 HG01192.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0179 a0001c0001t0116 a0001c0001t0179	a0001c0001t0116g0005 a0001c0001t0179g0007 a0001c0001t0116g0005 a0001c0001t0179g0007	2	446	0.0045	-32	c.39 others(41): Show c.397_*428delTATATATATATATATATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	397	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571880	TATATATA others(25): Show TATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01346.hp1 HG03654.hp1 others(4): Show HG01070.hp1 HG01346.hp1 HG03654.hp1 NA18980.hp1 NA18984.hp1 NA19064.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0105 a0001c0001t0153 a0001c0001t0017 a0001c0001t0105 a0001c0001t0153	a0001c0001t0017g0001 a0001c0001t0017g0009 a0001c0001t0017g0029 others(2): Show a0001c0001t0017g0001 a0001c0001t0017g0009 a0001c0001t0017g0029 a0001c0001t0105g0014 a0001c0001t0153g0013	7	446	0.0157	-32	c.40 others(41): Show c.405_*436delTATATATATATATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	405	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP7_chr3_101319205_101518212	101463366	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0169 a0004c0006t0002g0169	1	370	0.0027	-32	c.187 others(49): Show c.187-4346_187-4315delGTATATATATATATATATATATATATAT ATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109590035	TACACACA others(25): Show TACACACATATATATGTGTGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0232 a0001c0007t0004g0232	1	404	0.0025	-32	c.99+ others(47): Show c.99+2984_99+3015delGTATATATATACACACACATATATATGTGT GT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	2/10			chr2	TogoVar
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	346	0.0029	-32	c.169 others(49): Show c.169+5390_169+5421delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18952.hp2 NA19060.hp2 others(2): Show HG02922.hp2 NA18952.hp2 NA19060.hp2 NA19068.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 others(2): Show a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0004g0175 a0001c0001t0012g0257	5	346	0.0145	-32	c.169 others(49): Show c.169+5394_169+5425delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(25): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02080.hp1 HG02809.hp2 others(8): Show HG01255.hp2 HG02080.hp1 HG02809.hp2 HG04204.hp1 NA18747.hp1 NA18944.hp1 NA18968.hp2 NA18973.hp2 NA19070.hp2 NA19085.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0261 others(8): Show a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0005g0197 a0001c0001t0005g0199 a0001c0001t0005g0208 a0001c0001t0010g0262	11	346	0.0318	-32	c.169 others(49): Show c.169+5398_169+5429delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(25): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	346	0.0029	-32	c.169 others(49): Show c.169+5402_169+5433delTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838302	TTCCCTCC others(25): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18961.hp1 NA19081.hp1 HG02027.hp2 NA18961.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 a0001c0001t0001 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0321 a0001c0001t0016g0077 a0001c0001t0021g0050 a0001c0001t0001g0321 a0001c0001t0016g0077 a0001c0001t0021g0050	3	346	0.0087	-32	c.169 others(49): Show c.169+5434_169+5465delCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158143331	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0021 a0008c0008t0021	a0008c0008t0021g0025 a0008c0008t0021g0025	1	366	0.0027	-32	c.610 others(47): Show c.610-179_610-148delTATATATATATATATAGAGAGAGAGAGAGA GA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158154891	CGTGCCGG others(25): Show CGTGCCGGAGCTGAGTGAGTGCCTGATTTAAGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0075	1	366	0.0027	-32	c.128 others(47): Show c.128+392_128+423delACTTAAATCAGGCACTCACTCAGCTCCGGC AC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	3/16			chr6	TogoVar
SERGEF_chr11_17783048_18018047	17998432	CATACATA others(25): Show CATACATACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20905.hp2 HG04115.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0117 a0002c0003t0001g0118	2	226	0.0089	-32	c.508 others(49): Show c.508+2033_508+2064delATATATATATATATATATATATATGTAT GTAT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	5/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17998436	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01192.hp2 others(7): Show HG00408.hp2 HG01106.hp2 HG01192.hp2 HG02293.hp2 HG02698.hp2 HG03239.hp1 HG03491.hp1 HG03688.hp2 NA18959.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0211 others(7): Show a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0221 a0002c0003t0002g0210	10	226	0.0443	-32	c.508 others(49): Show c.508+2029_508+2060delATATATATATATATATATATATATATAT GTAT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	5/10			chr11	TogoVar
SERINC2_chr1_31408213_31439678	31422296	CTCAAAAA others(25): Show CTCAAAAAAAAAAAAACAAAAAAAGAAGAAAAG	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0329 a0002c0002t0001g0329	1	376	0.0027	-32	c.40- others(47): Show c.40-1396_40-1365delTCAAAAAAAAAAAAACAAAAAAAGAAGAAA AG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC5_chr5_80133727_80261048	80251279	AATACATA others(25): Show AATACATACATGCATACATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02258.hp1 others(15): Show HG01167.hp2 HG01243.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0030 a0001c0001t0036 a0001c0001t0046 a0001c0001t0047 a0001c0001t0054 a0001c0001t0055 a0001c0001t0075 a0001c0002t0027	a0001c0001t0001g0271 a0001c0001t0002g0277 a0001c0001t0002g0280 others(15): Show a0001c0001t0001g0271 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0007g0069 a0001c0001t0007g0275 a0001c0001t0007g0281 a0001c0001t0008g0259 a0001c0001t0015g0256 a0001c0001t0015g0258 a0001c0001t0030g0255 a0001c0001t0030g0257 a0001c0001t0036g0254 a0001c0001t0046g0260 a0001c0001t0047g0261 a0001c0001t0054g0253 a0001c0001t0055g0276 a0001c0001t0075g0284 a0001c0002t0027g0274	18	286	0.0629	-32	c.27+ others(47): Show c.27+4585_27+4616delGTATGTATGTATGTATGTATGCATGTATGT AT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINB12_chr18_63537369_63574329	63558999	CTTCCTTC others(25): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp1 HG02809.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0060 a0001c0001t0009g0060	2	402	0.0050	-32	c.303 others(47): Show c.303+517_304-544delCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783208	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 NA18951.hp1 others(1): Show HG00558.hp1 HG00621.hp1 NA18951.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0112 a0001c0001t0002g0209 a0001c0001t0002g0210 others(1): Show a0001c0001t0002g0112 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0003g0217	4	432	0.0093	-32	c.168 others(47): Show c.168+672_168+703delGAGAGAGAGAGAGAGAGAGAGAGAAAGAAA GA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE2_chr2_223970045_224044286	224044128	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02723.hp1 others(8): Show HG01891.hp1 HG02257.hp1 HG02723.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA19011.hp2 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0012 a0001c0004t0002 a0001c0001t0002 a0001c0001t0012 a0001c0004t0002	a0001c0001t0002g0249 a0001c0001t0002g0324 a0001c0001t0002g0325 others(8): Show a0001c0001t0002g0249 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0012g0328 a0001c0004t0002g0230 a0001c0004t0002g0233 a0001c0004t0002g0244 a0001c0004t0002g0246 a0001c0004t0002g0276	11	374	0.0294	-32	c.-50 others(43): Show c.-5084_-5053delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4843		chr2	TogoVar
SERTAD4_chr1_210227796_210251255	210232898	GGGCGGCC others(25): Show GGGCGGCCGGGCCGGGACCCGCGAGTGTGCACC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02647.hp1 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0026 a0003c0004t0026	a0003c0004t0026g0086 a0003c0004t0026g0087 a0003c0004t0026g0086 a0003c0004t0026g0087	2	420	0.0048	-32	c.-11 others(40): Show c.-119_-88delCGGGACCCGCGAGTGTGCACCGGCGGCCGGGC	SERTAD4	ENSG00000082497.12	transcript	ENST00000367012.4	protein_coding	1/4	5020	INFO_REALIGN_3_PRIME	chr1	TogoVar
SETBP1_chr18_44675888_45073510	44868701	CGGAAGGA others(25): Show CGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp1 HG02622.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0073 a0002c0002t0001g0074	2	140	0.0143	-32	c.487 others(47): Show c.487-518_487-487delGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD2_chr3_47011436_47169113	47049304	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02622.hp1 others(12): Show HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA20300.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0005 a0012c0012 a0001c0005 a0012c0012	a0001c0005t0004 a0012c0012t0004 a0001c0005t0004 a0012c0012t0004	a0001c0005t0004g0262 a0001c0005t0004g0263 a0001c0005t0004g0264 others(12): Show a0001c0005t0004g0262 a0001c0005t0004g0263 a0001c0005t0004g0264 a0001c0005t0004g0265 a0001c0005t0004g0266 a0001c0005t0004g0267 a0001c0005t0004g0294 a0001c0005t0004g0299 a0001c0005t0004g0300 a0001c0005t0004g0301 a0001c0005t0004g0302 a0001c0005t0004g0303 a0001c0005t0004g0304 a0001c0005t0004g0305 a0012c0012t0004g0268	15	308	0.0487	-32	c.696 others(51): Show c.6964-2715_6964-2684delATATATATATATATATATATATATAT ATATAT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SF1_chr11_64759606_64783542	64762075	TCGGGAGG others(25): Show TCGGGAGGCTGAGGCAGGAGAATCACTTGAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0078 a0001c0001t0010g0078	1	342	0.0029	-32	c.37 others(43): Show c.3711_*3742delGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCG	SF1	ENSG00000168066.22	transcript	ENST00000377390.8	protein_coding		2530		chr11	TogoVar
SFN_chr1_26858149_26869456	26868248	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01256.hp2 HG01257.hp2 others(6): Show HG00099.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01981.hp1 HG02602.hp1 HG02809.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0006g0000	9	332	0.0271	-32	c.42 others(43): Show c.4290_*4321delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding		3793		chr1	TogoVar
SFRP2_chr4_153775591_153794083	153789505	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG01891.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0039 a0001c0001t0001g0040	2	434	0.0046	-32	c.-70 others(41): Show c.-702_-671delACACACACACACACACACACACACACACACAC	SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding		423		chr4	TogoVar
SFSWAP_chr12_131706090_131804738	131801537	ATGGCCCG others(25): Show ATGGCCCGTGTTTGCCGTGGCCCGTGTTTGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	318	0.0031	-32	c.20 others(43): Show c.2050_*2081delTGGCCCGTGTTTGCCGTGGCCCGTGTTTGCTG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		1800		chr12	TogoVar
SFTPB_chr2_85652314_85673199	85666358	GCTGTGTG others(25): Show GCTGTGTGTGTGTGTGTCCGGCCAGCTGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp2 HG02056.hp2 others(1): Show HG00438.hp2 HG01243.hp2 HG02056.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0002c0003t0019	a0001c0001t0001g0144 a0001c0001t0003g0091 a0002c0002t0005g0257 others(1): Show a0001c0001t0001g0144 a0001c0001t0003g0091 a0002c0002t0005g0257 a0002c0003t0019g0066	4	426	0.0094	-32	c.393 others(47): Show c.393+227_393+258delTACCCCAGCTGGCCGGACACACACACACAC AG	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SFXN1_chr5_175473560_175534742	175524115	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	372	0.0027	-32	c.872 others(49): Show c.872+1695_872+1726delAAAAAAAAAATATATATATATATATATA TATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN2_chr10_102709636_102748492	102711338	ATATATAT others(25): Show ATATATATATATATATGTATGTATATGTATCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0216 a0001c0001t0051g0216	1	404	0.0025	-32	c.-33 others(43): Show c.-3368_-3337delTATATATATATATATGTATGTATATGTATCTG	SFXN2	ENSG00000156398.13	transcript	ENST00000369893.10	protein_coding		3297		chr10	TogoVar
SGCA_chr17_50161005_50180928	50162891	AGAGGGAG others(25): Show AGAGGGAGGGAGGGAAGGAAGGAAGAAAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	416	0.0024	-32	c.-31 others(43): Show c.-3149_-3118delGAGGGAGGGAGGGAAGGAAGGAAGAAAGGAGG	SGCA	ENSG00000108823.17	transcript	ENST00000262018.8	protein_coding		3113		chr17	TogoVar
SGCD_chr5_156322164_156772788	156444114	CTCCCCTT others(25): Show CTCCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA19009.hp2 HG01258.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0047 a0001c0002t0002g0075 a0001c0001t0005g0047 a0001c0002t0002g0075	2	150	0.0133	-32	c.193 others(51): Show c.193-64484_193-64453delCCCTTCCCTCTCTCTCTCTCTCCTTC CCTTTC	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156524094	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0042 a0001c0001t0037g0042	1	150	0.0067	-32	c.294 others(51): Show c.294+15414_294+15445delATATATATATATATATATATATATAT ATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	14752996	GTTTTCAT others(25): Show GTTTTCATTCTATGGAAACTCTCCGTACTGTAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0077 a0001c0001t0052g0077	1	102	0.0098	-32	c.40- others(51): Show c.40-198102_40-198071delTTACAGTACGGAGAGTTTCCATAGAA TGAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14946005	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0044 a0001c0001t0075g0044	1	102	0.0098	-32	c.39+ others(51): Show c.39+291548_39+291579delATATATATATATATATATATATATAT ATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGK1_chr6_134164256_134323112	134206357	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02896.hp2 others(5): Show HG02258.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0007t0001	a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0240 others(5): Show a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0004g0077 a0001c0001t0008g0166 a0001c0002t0002g0237 a0001c0007t0001g0156	8	250	0.0320	-32	c.361 others(47): Show c.361+967_361+998delAAAAAATATATATATATATATATATATATA TA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206359	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02965.hp1 HG03516.hp2 HG01169.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0002g0226 a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0002g0226	3	250	0.0120	-32	c.361 others(47): Show c.361+965_361+996delAAAAAAAATATATATATATATATATATATA TA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206361	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01167.hp1 others(1): Show HG00735.hp1 HG00741.hp2 HG01167.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0002g0128 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0002g0128 a0001c0001t0002g0149	4	250	0.0160	-32	c.361 others(47): Show c.361+963_361+994delAAAAAAAAAATATATATATATATATATATA TA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206363	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG03654.hp1 HG02809.hp1 HG03041.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0002g0205 a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0002g0205	3	250	0.0120	-32	c.361 others(47): Show c.361+961_361+992delAAAAAAAAAAAATATATATATATATATATA TA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02683.hp1 HG02615.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0116 a0001c0001t0001g0126	2	142	0.0141	-32	c.742 others(47): Show c.742-476_742-445delATATATATATATATATATATATATATATAT AT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66839527	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp1 HG03139.hp2 HG02486.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0007g0023 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0007g0023	3	142	0.0211	-32	c.742 others(47): Show c.742-474_742-443delATATATATATATATATATATATATATATAT TT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGSM1_chr22_24801211_24932578	24845941	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19005.hp1 HG01123.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0002 a0002c0009t0003 a0001c0001t0002 a0002c0009t0003	a0001c0001t0002g0099 a0002c0009t0003g0155 a0001c0001t0002g0099 a0002c0009t0003g0155	2	338	0.0059	-32	c.139 others(49): Show c.139+1008_139+1039delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24900340	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0126 a0003c0008t0001g0126	1	338	0.0030	-32	c.261 others(51): Show c.2611-1456_2611-1425delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH2D4B_chr10_80532902_80651560	80534920	GCCCTGTC others(25): Show GCCCTGTCCGGGAGGGAGGCGGGGGGGTCAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0011 a0002c0007t0016g0011	1	322	0.0031	-32	c.-34 others(43): Show c.-3411_-3380delCCCTGTCCGGGAGGGAGGCGGGGGGGTCAGCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		2981		chr10	TogoVar
SH3BP2_chr4_2788085_2846096	2826578	GTGTGTGT others(25): Show GTGTGTGTGCATGTCTGTGTGTTGCTCTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0092 a0001c0003t0092	a0001c0003t0092g0081 a0001c0003t0092g0081	1	378	0.0027	-32	c.429 others(47): Show c.429-635_429-604delTGTGTTGCTCTGTGTTTGTGTGTGCATGTC TG	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	CTAAAGAC others(25): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp1 others(45): Show HG00099.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01433.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG02293.hp1 HG02486.hp2 HG02976.hp2 HG03017.hp1 HG03491.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp1 HG04228.hp1 NA18954.hp2 NA18959.hp2 NA18965.hp2 NA18966.hp2 NA18977.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0004t0001 a0008c0013t0001	a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0223 others(45): Show a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0223 a0001c0001t0001g0276 a0001c0001t0001g0315 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0121 a0001c0001t0003g0131 a0001c0001t0012g0030 a0001c0001t0025g0173 a0001c0002t0001g0184 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0211 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0258 a0001c0002t0001g0266 a0001c0002t0001g0272 a0001c0002t0002g0012 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0087 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0117 a0001c0002t0003g0146 a0001c0002t0003g0148 a0002c0004t0001g0161 a0008c0013t0001g0340	48	376	0.1277	-32	c.331 others(49): Show c.331-2682_331-2651delTCCTACAGGCACTCTGTTTTGTAATGTC TTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 5012 hits)