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
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	374	0.0027	46	c.202 others(65): Show c.202-17463_202-17462insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD3B1_chr1_119502210_119520054	119510704	C C	CTTTTGTT others(39): Show CTTTTGTTCCTTTTTTTGTTGTTGCTTGTGTGGTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19083.hp1 NA18941.hp2 NA19083.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0097 a0004c0006t0001g0098 a0004c0006t0001g0097 a0004c0006t0001g0098	2	410	0.0049	46	c.146 others(61): Show c.146-797_146-796insTTGTTCCTTTTTTTGTTGTTGCTTGTGTGG TTTTTTTTTTTTGTTT	HSD3B1	ENSG00000203857.10	transcript	ENST00000369413.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HTT_chr4_3069681_3248957	3169024	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0079 a0079	a0079c0106 a0079c0106	a0079c0106t0003 a0079c0106t0003	a0079c0106t0003g0074 a0079c0106t0003g0074	1	294	0.0034	46	c.386 others(65): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(39): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0031 a0001c0059t0031	a0001c0059t0031g0026 a0001c0059t0031g0026	1	174	0.0058	46	c.884 others(63): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(39): Show AATAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03669.hp1 NA18946.hp1 others(1): Show HG00408.hp2 HG03669.hp1 NA18946.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0072 a0002c0002t0002g0081 others(1): Show a0002c0002t0002g0068 a0002c0002t0002g0072 a0002c0002t0002g0081 a0002c0002t0002g0090	4	296	0.0135	46	c.372 others(63): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATTTAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	296	0.0034	46	c.372 others(63): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0005 a0001c0001t0030g0005	1	330	0.0030	46	c.-7- others(63): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICAM2_chr17_63997595_64025633	64014675	A A	AAGGGAGG others(39): Show AAGGGAGGGAGGGAGGGAGAGAGAGAGAAAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	392	0.0026	46	c.-45 others(63): Show c.-45+5847_-45+5848insCTCTCTCTCTTTCTTTCTTTCTCTCTCT CTCCCTCCCTCCCTCCCT	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
IFNL2_chr19_39263396_39275188	39267983	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0001 a0006c0005t0001g0001	1	422	0.0024	46	c.-58 others(55): Show c.-586_-585insATATATATATATATATATATATATATATATATATAT ATATATATAT	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		412		chr19	TogoVar
IFT43_chr14_75980763_76088742	76029871	A A	ATTTTATT others(39): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	396	0.0025	46	c.215 others(63): Show c.215+7505_215+7506insTATTTTATTTATTTTATTTTTTATTTTA TTTTATTTTATTTTATTT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0156 a0002c0002t0002g0156	1	212	0.0047	46	c.259 others(61): Show c.259+263_259+264insATATATATATATATATATATATATATATAT ATATATATATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19			chr3	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(39): Show CATACATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(4): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG02970.hp1 HG02976.hp2 NA18954.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0121 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0121 a0001c0001t0001g0254 a0001c0001t0001g0260 a0002c0003t0002g0014	7	358	0.0196	46	c.20 others(57): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT ATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp2 others(24): Show HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01099.hp2 HG01168.hp1 HG01361.hp1 HG01934.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02615.hp1 HG02622.hp1 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18969.hp1 NA18988.hp1 NA19064.hp1 NA19068.hp2 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0002t0003g0210	27	358	0.0754	46	c.20 others(57): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT ATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp1 NA18969.hp2 others(1): Show HG02056.hp1 HG02523.hp1 NA18969.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0041	a0001c0001t0001g0034 a0001c0001t0002g0071 a0001c0001t0006g0261 others(1): Show a0001c0001t0001g0034 a0001c0001t0002g0071 a0001c0001t0006g0261 a0001c0001t0041g0256	4	360	0.0111	46	c.221 others(63): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATATATATATATATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185800718	A A	AAAAAAGA others(39): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0068 a0001c0001t0027g0068	1	216	0.0046	46	c.239 others(65): Show c.239+22434_239+22435insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
IGLL5_chr22_22882816_22901111	22884073	C C	CTCTTCTG others(39): Show CTCTTCTGAAGAGCTCCAGCCAGTTCCTCCTCAGGCTTCCTCTACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	302	0.0033	46	c.-39 others(57): Show c.-3981_-3980insTCTTCTGAAGAGCTCCAGCCAGTTCCTCCTCAGG CTTCCTCTACTG	IGLL5	ENSG00000254709.8	transcript	ENST00000526893.6	protein_coding		3742		chr22	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03041.hp2 HG03195.hp2 others(1): Show HG00735.hp2 HG03041.hp2 HG03195.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0002 a0001c0001t0001 a0001c0001t0003 a0003c0003t0002	a0001c0001t0001g0040 a0001c0001t0001g0099 a0001c0001t0003g0196 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0099 a0001c0001t0003g0196 a0003c0003t0002g0143	4	248	0.0161	46	c.71- others(63): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATATATATATATATATAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0224 a0002c0002t0003g0224	1	248	0.0040	46	c.71- others(61): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCACACACACACAC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL12RB1_chr19_18053995_18091934	18088388	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	412	0.0024	46	c.-15 others(57): Show c.-1566_-1565insATATATATATATATATATATATATATATATATAT ATATATATATAT	IL12RB1	ENSG00000096996.16	transcript	ENST00000593993.7	protein_coding		1455		chr19	TogoVar
IL12RB1_chr19_18053995_18091934	18088404	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0069 a0006c0006t0005g0069	1	412	0.0024	46	c.-15 others(57): Show c.-1582_-1581insTTATATATATATATATATATATATATATATATAT ATATATATATAT	IL12RB1	ENSG00000096996.16	transcript	ENST00000593993.7	protein_coding		1471		chr19	TogoVar
IL16_chr15_81191879_81319058	81243143	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0294 a0001c0002t0017g0294	1	342	0.0029	46	c.313 others(65): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATATATATATATAT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17B_chr5_149369267_149384292	149370033	T T	TTTTTTTT others(39): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	46	c.43 others(57): Show c.4335_*4336insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	IL17B	ENSG00000127743.6	transcript	ENST00000261796.4	protein_coding		4233		chr5	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	416	0.0024	46	c.139 others(63): Show c.139-2370_139-2369insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL1A_chr2_112768925_112789493	112776447	T T	TGACCCGC others(39): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG02486.hp2 others(3): Show HG00639.hp2 HG01167.hp2 HG02486.hp2 HG02559.hp2 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0014 a0001c0001t0001g0057	6	358	0.0168	46	c.616 others(63): Show c.616-1226_616-1181dupGTGGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCGGGTC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL2RA_chr10_6005689_6067367	6051817	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	414	0.0048	46	c.64+ others(63): Show c.64+10270_64+10271insTATATATATATATATATATATATATATA TATATATATATATATATA	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0301 a0003c0004t0008g0301	1	322	0.0031	46	c.852 others(61): Show c.852+572_852+573insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0045 a0005c0012t0045	a0005c0012t0045g0005 a0005c0012t0045g0005	1	322	0.0031	46	c.852 others(61): Show c.852+572_852+573insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	322	0.0031	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	322	0.0031	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 NA18967.hp1 HG01256.hp1 HG01258.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0011 a0001c0005t0018 a0002c0002t0034 a0001c0005t0011 a0001c0005t0018 a0002c0002t0034	a0001c0005t0011g0002 a0001c0005t0018g0002 a0002c0002t0034g0048 a0001c0005t0011g0002 a0001c0005t0018g0002 a0002c0002t0034g0048	3	322	0.0093	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	322	0.0031	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL3RA_chrX_1331785_1387689	1360854	C C	CCTGTCTC others(39): Show CCTGTCTCTCTCTCCCTTCTCCCCTCTCTCTCTCTCCCTTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0016 a0016	a0016c0004 a0016c0004	a0016c0004t0007 a0016c0004t0007	a0016c0004t0007g0093 a0016c0004t0007g0093	1	115	0.0087	46	c.759 others(63): Show c.759+1985_759+1986insTCCCCTCTCTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361064	T T	TCTCTGTC others(39): Show TCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	115	0.0087	46	c.759 others(63): Show c.759+2182_759+2227dupGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366924	C C	CGCGGGGT others(39): Show CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGGTGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	115	0.0087	46	c.874 others(63): Show c.874+1698_874+1699insAGCGGGGTGCGCCGGGGTGAGCGGGGTG AGCCGGGTGCGCGGGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366936	C C	CGGGTGCG others(39): Show CGGGTGCGCGGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	115	0.0087	46	c.874 others(63): Show c.874+1696_874+1697insGTGAGCGGGGTGCGCCGGGTGAGCGGGG TGAGCGGGGTGCGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366936	C C	CGGGTGCG others(39): Show CGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp1 HG02148.hp2 HG00673.hp1 HG02080.hp1 HG02148.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0006 a0001c0001 a0014c0006	a0001c0001t0001 a0014c0006t0002 a0001c0001t0001 a0014c0006t0002	a0001c0001t0001g0017 a0001c0001t0001g0101 a0014c0006t0002g0043 a0001c0001t0001g0017 a0001c0001t0001g0101 a0014c0006t0002g0043	3	115	0.0261	46	c.874 others(63): Show c.874+1698_874+1699insAGCGGGGTGCGCCGGGTGAGCGGGGTGA GCCGGGGTGCGCGGGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366953	C C	CGGGGTGC others(39): Show CGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGCGCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	115	0.0087	46	c.874 others(63): Show c.874+1710_874+1711insCGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGTGCGCGGGGGTGCGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1380456	G G	GAGGAAAT others(39): Show GAGGAAATGGGGGAGGAGGGGGGAAGGGAGGAGGGGGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	115	0.0087	46	c.981 others(61): Show c.981-567_981-566insAGGAAATGGGGGAGGAGGGGGGAAGGGAGG AGGGGGGAAGGGAGGA	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	10/11			chrX	TogoVar
IL6R_chr1_154400343_154474450	154447502	C C	CACACACA others(39): Show CACACACACACACACACATATATACACACATACATATATATACACAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19043.hp1 HG02109.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0250 a0003c0004t0010g0318 a0003c0004t0010g0250 a0003c0004t0010g0318	2	346	0.0058	46	c.950 others(61): Show c.950-622_950-621insCACACACACACACACATATATACACACATA CATATATATACACATA	IL6R	ENSG00000160712.13	transcript	ENST00000368485.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL6_chr7_22722200_22736998	22732328	A A	ACTATGTA others(39): Show ACTATGTATGTGTATATATAGTATATATAGTATATATAGTATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	418	0.0024	46	c.75 others(55): Show c.755_*756insCTATGTATGTGTATATATAGTATATATAGTATATAT AGTATATATG	IL6	ENSG00000136244.12	transcript	ENST00000258743.10	protein_coding		331		chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111522926	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	84	0.0119	46	c.-2- others(61): Show c.-2-1478_-2-1477insATATATATATATATATATATATATATATAT ATATATATATATATAT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	1/5			chr7	TogoVar
IMPG2_chr3_101217546_101325575	101256217	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAACGAACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0049 a0003c0009t0049	a0003c0009t0049g0255 a0003c0009t0049g0255	1	360	0.0028	46	c.115 others(65): Show c.1153+1311_1153+1312insTGTTCGTTCTTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	10/18			chr3	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	424	0.0024	46	c.42 others(57): Show c.4218_*4219insTCTCTCTCTCTCTATATATATATATATATATATA TATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INPP5A_chr10_132532787_132788480	132651329	A A	ATCCATCT others(39): Show ATCCATCTCCCCCGTCTCTGGGGAGGCCCTGGGTCCCCCGGCCTGGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18962.hp1 NA19011.hp2 HG02523.hp1 NA18962.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132	3	204	0.0147	46	c.306 others(61): Show c.306+912_306+957dupCTGGGTCCATCTCCCCCGTCTCTGGGGAGG CCCTGGGTCCCCCGGC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	346	0.0029	46	c.281 others(63): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(39): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0303 a0002c0002t0003g0303	1	346	0.0029	46	c.281 others(63): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INSC_chr11_15109923_15252208	15113119	C C	CTCTCTTT others(39): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA18948.hp2 HG03453.hp2 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0256 a0002c0004t0001g0259 a0001c0001t0001g0256 a0002c0004t0001g0259	2	270	0.0074	46	c.-19 others(57): Show c.-1930_-1929insTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1803		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01361.hp2 others(1): Show HG01256.hp1 HG01258.hp2 HG01361.hp2 NA18973.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0001c0001t0001 a0001c0001t0002 a0003c0005t0001	a0001c0001t0001g0061 a0001c0001t0001g0209 a0001c0001t0002g0265 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0209 a0001c0001t0002g0265 a0003c0005t0001g0197	4	270	0.0148	46	c.-19 others(57): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0242 a0001c0002t0003g0242	1	270	0.0037	46	c.-19 others(57): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15113145	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	270	0.0037	46	c.-19 others(57): Show c.-1904_-1903insTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1777		chr11	TogoVar

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Search Results (Total: 3221 hits)