Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(99): Show CCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCAC TGCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	390	0.0026	106	c.145 others(123): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGCGGG GCAGTGCGGACTGCAGGTGAGCGGGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(99): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCAC CTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCAC TGCCCCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01361.hp2 HG03239.hp1 others(2): Show HG01070.hp1 HG01361.hp2 HG03239.hp1 HG03654.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 others(2): Show a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157	5	390	0.0128	106	c.145 others(123): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGAGCGCAGGTGAGCGGGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132315202	T T	TGGCCTCC others(99): Show TGGCCTCCCCCGTGTCCACTGCAAAGTGCTGGAGCCTCAGAATATAATCA GGGCGGCCTCCCCCGTGTCCACTGCAAAGTGCTGGAGCCTCAGAATATAA TCAGGGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	183	0.0055	106	c.238 others(125): Show c.238+13763_238+13764insGCCCTGATTATATTCTGAGGCTCCAG CACTTTGCAGTGGACACGGGGGAGGCCGCCCTGATTATATTCTGAGGCTC CAGCACTTTGCAGTGGACACGGGGGAGGCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172069536	T T	TGTTATAT others(99): Show TGTTATATATAACACATATATGTGTTATATATAACACATATATGTTATAT ATAACACATATGTGTTATATATATTATATATAACACATATATGTTATATA TGTTATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	40	0.0250	106	c.139 others(127): Show c.139-160120_139-160119insGTTATATATAACACATATATGTGT TATATATAACACATATATGTTATATATAACACATATGTGTTATATATATT ATATATAACACATATATGTTATATATGTTATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12			chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172546798	G G	GTATATAT others(99): Show GTATATATATACGTATATATATGCGTATATATATACGTATATATATGTGT ATATATATACGTATATATATACGCATATATATACGTATATACGTATATAT ATACGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0031 a0001c0001t0011g0031	1	40	0.0250	106	c.553 others(127): Show c.553+198117_553+198118insTACGTATATATATGCGTATATATA TACGTATATATATGTGTATATATATACGTATATATATACGCATATATATA CGTATATACGTATATATATACGTATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGA others(99): Show GATGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGG ATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCAT GGTGGTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0188 a0001c0002t0049g0188	1	366	0.0027	106	c.732 others(123): Show c.732+2957_732+2958insATGATGATGGTGGTCATGGTGGCGATTG TGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGT GTTGGTGGTGGTCATGGTGGTCATGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GLB1L3_chr11_134271379_134324564	134308392	C C	CCATCACC others(99): Show CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCA CCACCAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA21309.hp1 HG02896.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0281 a0001c0005t0002g0103 a0001c0002t0002g0281 a0001c0005t0002g0103	2	422	0.0047	106	c.961 others(123): Show c.961+1186_961+1187insTCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCACC ATGTCCACCACCACTACCACCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308398	T T	TCACCACC others(99): Show TCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCATGTC CACCACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCA CCACTAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02922.hp1 NA18955.hp2 others(2): Show HG02040.hp1 HG02922.hp1 NA18955.hp2 NA19004.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0003t0002g0102	5	422	0.0119	106	c.961 others(123): Show c.961+1195_961+1196insCCACCACCACCACCACCACCACCAAATA CCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATC ACCATCATCACCATCACCACTACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLOD4_chr17_754330_787280	768922	A A	AAGAAGAA others(99): Show AAGAAGAAATCTGGAGAGGACGTAAGAGAGAAACAGCGCGCACTCAGATT TTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCA GATTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG02135.hp2 others(9): Show HG00733.hp2 HG01123.hp1 HG02135.hp2 HG02602.hp2 NA18747.hp2 NA18943.hp2 NA18960.hp1 NA18968.hp2 NA18989.hp2 NA18994.hp2 NA19010.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0050 a0002c0002t0002g0302 a0002c0002t0002g0303 others(8): Show a0002c0002t0002g0050 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0008g0307	12	420	0.0286	106	c.831 others(121): Show c.831+946_831+947insAAAAATCTGAGTGTGCGCTGTTTCTCTCTC TCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTC TCTTACGTCCTCTCCAGATTTCTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTCTTTCT others(99): Show TTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0088 a0003c0005t0001g0088	1	320	0.0031	106	c.217 others(123): Show c.217+3317_217+3318insCTTTCTTTCTTTCTTTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCTTTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GMPR_chr6_16233587_16300549	16266336	T T	TGTGCCAC others(99): Show TGTGCCACCTTTAAGAGCTGTAACACTCACTGTGAAAAAGGTGGCACGTC GGACGTGCCACCTTTAAGAGCTGTAACACTCACTGTGAAAAAGGTGGCAC GTCGGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0213 a0005c0008t0004g0213	1	344	0.0029	106	c.466 others(123): Show c.466-8078_466-8077insTGCCACCTTTAAGAGCTGTAACACTCAC TGTGAAAAAGGTGGCACGTCGGACGTGCCACCTTTAAGAGCTGTAACACT CACTGTGAAAAAGGTGGCACGTCGGACG	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GMPR_chr6_16233587_16300549	16266338	C C	CGCCACCT others(99): Show CGCCACCTTTAAGAGCTGTAACACTCACTGTGAAAAAGGTGGCACGTCGG ACGTGCCACCTTTAAGAGCTGTAACACTCACTGTGAAAAAGGTGGCACGT CGGACGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0291 a0001c0003t0001g0292 others(2): Show a0001c0003t0001g0289 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0298 a0001c0003t0001g0299	5	344	0.0145	106	c.466 others(123): Show c.466-8052_466-7947dupCACTGTGAAAAAGGTGGCACGTCGGACG TGCCACCTTTAAGAGCTGTAACACTCACTGTGAAAAAGGTGGCACGTCGG ACGTGCCACCTTTAAGAGCTGTAACACT	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GON4L_chr1_155744659_155862214	155809992	T T	TTATAAAT others(99): Show TTATAAATTATATACATATATAATTATAAATTATATACATATATAATTAT AAATTATATACATATATAATTATAAATTATATACATATATAATTATATAT ATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0218 a0001c0011t0001g0218	1	218	0.0046	106	c.145 others(125): Show c.1452+3641_1452+3642insTATATATATATATAATTATATATGTA TATAATTTATAATTATATATGTATATAATTTATAATTATATATGTATATA ATTTATAATTATATATGTATATAATTTATA	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31			chr1	TogoVar
GPC6_chr13_93221807_94413020	93510991	A A	ATATATGT others(99): Show ATATATGTGTATATATATATGTATATATATATGTATATATATGTGTATAT ATATGTATATATATGTGTATATATATGTGTATATATATATGTGTGTATAT ATATGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0032 a0001c0001t0004g0033 a0001c0001t0001g0032 a0001c0001t0004g0033	2	76	0.0263	106	c.161 others(125): Show c.161-34267_161-34266insGTGTATATATATATGTATATATATAT GTATATATATGTGTATATATATGTATATATATGTGTATATATATGTGTAT ATATATATGTGTGTATATATATGTGTATAT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5568230	G G	GTATATAT others(99): Show GTATATATATATATATATATACTTAGTATATATATATATATATATACTTA GTATATATATATATATATATACTTAGTATATATATATATATATATATACT TAGTATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0107 a0001c0001t0018g0107	1	386	0.0026	106	c.115 others(123): Show c.1150-671_1150-670insTATACTAAGTATATATATATATATATAT ATACTAAGTATATATATATATATATATACTAAGTATATATATATATATAT ATACTAAGTATATATATATATATATATA	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	12/19			chr20	TogoVar
GPHN_chr14_66503147_67186803	66683371	T T	TATATGTT others(99): Show TATATGTTCATATATATATGTTCATATATATATGTTCATATATATGTATA TGTTCATATATATGTACATATATATGTTCATATATATATGTTCATATATA TATGTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	234	0.0043	106	c.143 others(123): Show c.143+2190_143+2191insGTTCATATATATATGTTCATATATATAT GTTCATATATATGTATATGTTCATATATATGTACATATATATGTTCATAT ATATATGTTCATATATATATGTTCATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218221	C C	CAACACCA others(99): Show CAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCAACACCATCCCCAACACCACCCCCAACA CACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	106	c.27 others(117): Show c.2703_*2704insAACACCATCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCATCCCCA ACACCACCCCCAACACACCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1052		chr8	TogoVar
GPR139_chr16_20023239_20078890	20041251	G G	GAGAGGAG others(99): Show GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG01258.hp1 others(4): Show HG00597.hp1 HG01192.hp1 HG01258.hp1 NA18943.hp2 NA18954.hp1 NA19004.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0003g0042 a0001c0001t0003g0100 a0001c0001t0003g0153 others(4): Show a0001c0001t0003g0042 a0001c0001t0003g0100 a0001c0001t0003g0153 a0001c0001t0006g0197 a0001c0001t0006g0202 a0001c0001t0006g0301 a0001c0002t0001g0094	7	364	0.0192	106	c.128 others(123): Show c.128-8583_128-8582insTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCT	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPRC5A_chr12_12886562_12922937	12914549	C C	CTTCCTTC others(99): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT TCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0238 a0001c0015t0238	a0001c0015t0238g0357 a0001c0015t0238g0357	1	396	0.0025	106	c.20 others(117): Show c.2013_*2014insCTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC TTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTCTTTCTTTCTTTC	GPRC5A	ENSG00000013588.10	transcript	ENST00000014914.6	protein_coding	4/4	2014	INFO_REALIGN_3_PRIME	chr12	TogoVar
GPRIN1_chr5_176590802_176615156	176591689	A A	ATGATGGT others(99): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02615.hp2 others(5): Show HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0001 a0001c0003t0010 a0001c0001t0006 a0001c0003t0001 a0001c0003t0010	a0001c0001t0006g0030 a0001c0003t0001g0003 a0001c0003t0001g0124 others(1): Show a0001c0001t0006g0030 a0001c0003t0001g0003 a0001c0003t0001g0124 a0001c0003t0010g0059	8	397	0.0202	106	c.51 others(117): Show c.5118_*5119insCCATCACAACCATCACCATCACCTCAACACCAAC ACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4112		chr5	TogoVar
GRHL1_chr2_9946693_10007277	9998483	T T	TATATATA others(99): Show TATATATACGTGTATATACGTATATATATACGTATATATATACATATATA CGTATATATATACGTATATATATACATATATACGTATATATATACGTATA TATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01981.hp1 HG02004.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	418	0.0072	106	c.167 others(123): Show c.1678-472_1678-471insGTATATACGTATATATATACGTATATAT ATACATATATACGTATATATATACGTATATATATACATATATACGTATAT ATATACGTATATATATACATATATACGT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(99): Show CACATATATATGTACACATATATGTACACATATATATATACATATATGTA CACATATATATGTACACATATATATATACATATATATGTACACATATATA TATACAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0093 a0004c0004t0002g0093	1	418	0.0024	106	c.167 others(121): Show c.1678-75_1678-74insCATATATATGTACACATATATGTACACATA TATATATACATATATGTACACATATATATGTACACATATATATATACATA TATATGTACACATATATATATACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CATATATA others(99): Show CATATATATGTACACATATATATATACATATATATGTACACATATATATA TACATATATATGTACACATATATATATACATATATATGTACACATATATA TATACAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	418	0.0024	106	c.167 others(121): Show c.1678-68_1678-67insGTACACATATATATATACATATATATGTAC ACATATATATATACATATATATGTACACATATATATATACATATATATGT ACACATATATATATACATATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIK1_chr21_29531933_29944996	29888197	C C	CTTTCTTT others(99): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCT TCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	162	0.0062	106	c.118 others(125): Show c.118+51185_118+51186insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRTP1_chr13_113319163_113369130	113352362	A A	ATATATAT others(99): Show ATATATATATATATTTATATATATTTTATATATATATATATTTATATATA TTTTATATATATATATATTTATATATATTTTATATATATATATATTTATA TATATTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	288	0.0035	106	c.341 others(123): Show c.341-1390_341-1389insAAATATATATAAATATATATATATATAA AATATATATAAATATATATATATATAAAATATATATAAATATATATATAT ATAAAATATATATAAATATATATATATA	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	3/7			chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169637	A A	ATATAATG others(99): Show ATATAATGTATATTATATAATATATTGTATATTATATAATATATTGTATA TTGTATATTATATATAATATATTGTATATTATATATAATATATTGTATAT TATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01952.hp1 HG02300.hp2 others(1): Show HG01074.hp1 HG01952.hp1 HG02300.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0180 a0001c0001t0001g0183	4	384	0.0104	106	c.-34 others(121): Show c.-34-833_-34-832insTATAATGTATATTATATAATATATTGTATA TTATATAATATATTGTATATTGTATATTATATATAATATATTGTATATTA TATATAATATATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169751	A A	AATATATA others(99): Show AATATATAATATACAATATATTATATAATATATAATATACAATATATTAT ATATTATATAATATATTGTATATTATATATTATATATTATATAATATATT GTATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0155 a0001c0001t0118g0155	1	384	0.0026	106	c.-34 others(121): Show c.-34-713_-34-712insAATATACAATATATTATATAATATATAATA TACAATATATTATATATTATATAATATATTGTATATTATATATTATATAT TATATAATATATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP10_chr7_90341716_90396453	90344182	A A	ATGTATAT others(99): Show ATGTATATATGTATATATGTATATATGTGTATATATGTATATATGTATAT ATGTGTATATATGTATATATATGTATATATGTGTATATATGTATATATGT ATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0060 a0005c0006t0060	a0005c0006t0060g0167 a0005c0006t0060g0167	1	390	0.0026	106	c.-25 others(117): Show c.-2560_-2559insTGTATATATGTATATATGTATATATGTGTATATA TGTATATATGTATATATGTGTATATATGTATATATATGTATATATGTGTA TATATGTATATATGTATATATG	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding		2533		chr7	TogoVar
GTPBP4_chr10_983434_1024932	1015564	G G	GCTGGGGT others(99): Show GCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCACTGAGCCTGGG AGTGGAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0027 a0001c0002t0017g0027	1	370	0.0027	106	c.160 others(123): Show c.1609-161_1609-160insTGGACCTGGGGTCCTGAGCGCTGAGCCT GGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCACTGAGCCTGGGAGTGGAC CTGGGGTCCTGAGCGCTGAGCCTGGGAG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GYG2_chrX_2823930_2887818	2844532	A A	ATATATGT others(99): Show ATATATGTGTATACGCACACGCATGCGTATATATGTGTATACGCACACGC ATGCGTATATGTGTATACGCACACGCATGCGTATATGTGTATACGCACAC GCATGCG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	316	0.0032	106	c.149 others(123): Show c.149+1209_149+1210insATGTGTATACGCACACGCATGCGTATAT GTGTATACGCACACGCATGCGTATATGTGTATACGCACACGCATGCGTAT ATGTGTATACGCACACGCATGCGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2844532	A A	ATATATGT others(99): Show ATATATGTGTATACGCACGCGCGTGCGTATATATGTGTATACGCACGCGC GTGCGTATATGTGTATACGCACGCGCGTGCGTATATGTGTATACGCACGC GCGTGCG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0130 a0001c0001t0004g0131	2	316	0.0063	106	c.149 others(123): Show c.149+1195_149+1196insGCGCGTGCGTATATATGTGTATACGCAC GCGCGTGCGTATATGTGTATACGCACGCGCGTGCGTATATGTGTATACGC ACGCGCGTGCGTATATGTGTATACGCAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMM_chr19_539053_554922	550457	T T	TGTCACCC others(99): Show TGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACC CCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCC GTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	106	c.66 others(115): Show c.666_*667insGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAG TCACCCCAGCACCCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		536		chr19	TogoVar
GZMM_chr19_539053_554922	550457	T T	TGTCACCC others(99): Show TGTCACCCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCAC CCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCC GTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	398	0.0025	106	c.66 others(115): Show c.666_*667insGTCACCCCCAGCACCCCGAAAACAGGCCCGTCCCCA GTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		536		chr19	TogoVar
GZMM_chr19_539053_554922	550601	A A	ACCCCAGC others(99): Show ACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGA AAACAGGCCCGTCCCCAGTCACCCCAGCACTCCGAAAACAGGCCCGTCCC CAGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0001 a0016c0013t0001	a0016c0013t0001g0200 a0016c0013t0001g0200	1	398	0.0025	106	c.81 others(115): Show c.810_*811insCCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCAC CCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACTCCGAAA ACAGGCCCGTCCCCAGTCAC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		680		chr19	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(99): Show CATATATATATATATATACATATATATATATATATATATATACGTATATA TATGTGTATATATATATGTGTATATATATATATATACACATATATATACG TATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	428	0.0023	106	c.771 others(123): Show c.771+2323_771+2324insCATATATATATATATATATATATACGTA TATATATGTGTATATATATATGTGTATATATATATATATACACATATATA TACGTATATATATATATATATATATATA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAP1_chr17_41717640_41739643	41730127	A A	AAGAAAGA others(99): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	374	0.0027	106	c.106 others(125): Show c.1069+1365_1069+1366insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HERC6_chr4_88373852_88448097	88379937	T T	TATATATA others(99): Show TATATATAATATATAAATATATATATAATATATAAATATATATATAATAT ATAAATATATATATAATATATAAATATATATAATATATAAATATATATAA TATATAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	174	0.0058	106	c.199 others(121): Show c.199+824_199+825insATATATAAATATATATATAATATATAAATA TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AAATATATATAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380096	T T	TATATATA others(99): Show TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATATATAATATATAAATATATATAA TATATAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0142 a0007c0010t0001g0142	1	174	0.0058	106	c.199 others(121): Show c.199+983_199+984insATATATAAATATATATAATATATAAATATA TATATAATATATAAATATATATAATATATAAATATATATATATAATATAT AAATATATATAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380096	T T	TATATATA others(99): Show TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AAATATATATATAATATATAAATATATATAATATATAAATATATATATAA TATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0163 a0012c0013t0001g0163	1	174	0.0058	106	c.199 others(121): Show c.199+983_199+984insATATATAAATATATATATAATATATAAATA TATATAATATATAAATATATATATAATATATAAATATATATAATATATAA ATATATATATAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIGD1C_chr12_50947544_50975607	50948867	G G	GGGGGGGG others(99): Show GGGGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGG GGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	380	0.0026	106	c.-39 others(117): Show c.-3912_-3911insGGGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGAGG GGAGGGAGGGGAGGGGGAGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3676		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(99): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	380	0.0026	106	c.-38 others(117): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948902	G G	GGGGAGGG others(99): Show GGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	106	c.-38 others(117): Show c.-3877_-3876insGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3641		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(99): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCTCT CTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	306	0.0033	106	c.26 others(117): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HRH3_chr20_62209960_62225278	62212797	T T	TGGCTTCT others(99): Show TGGCTTCTGCCCAGGAAGAGGAGCCTGTCTCGGAGGGGTCACTTGAGTGT CTGGGAGGCAGTCAGAAGTCCAGGAGCCGGAAGGAGAGCAGGGATGGGGG GTAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	106	c.32 others(117): Show c.3208_*3209insTCCTTACCCCCCATCCCTGCTCTCCTTCCGGCTC CTGGACTTCTGACTGCCTCCCAGACACTCAAGTGACCCCTCCGAGACAGG CTCCTCTTCCTGGGCAGAAGCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		2162		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213170	G G	GGGGTAAG others(99): Show GGGGTAAGGAGAGCGGGGATGGGGGGTAAGGAGAGCGGGGATGGGTGGGG GAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAG CAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	368	0.0027	106	c.28 others(117): Show c.2835_*2836insATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCC CTCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCCGCTCTCCTTACCC CCCATCCCCGCTCTCCTTACCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1789		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213389	G G	GGGGAAGG others(99): Show GGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGATGGGTGGGG GAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAG CAAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	368	0.0027	106	c.26 others(117): Show c.2616_*2617insATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCC CTCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCC CCCATCCCTGCTCTCCCTTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1570		chr20	TogoVar
HTR2C_chrX_114579086_114915061	114807142	C C	CACCATAT others(99): Show CACCATATATACACCATGTATATATACACCATATATACACCATGTATATA TACACCATATATACACCATATATACACCATGTATATATACACCATATATA CACCATG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	176	0.0057	106	c.350 others(125): Show c.350-40861_350-40860insACCATATATACACCATGTATATATAC ACCATATATACACCATGTATATATACACCATATATACACCATATATACAC CATGTATATATACACCATATATACACCATG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HUS1B_chr6_650939_662100	658647	A A	ATATATAT others(99): Show ATATATATATATATATATATATATATATTTTATATATATATATATATATA TATATATATTTTATATATATATATATATTTTATATATATATATATATATA TATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	106	c.-17 others(117): Show c.-1704_-1703insAAATATATATATATATATATATATATAAAATATA TATATATATATAAAATATATATATATATATATATATATATATAAAATATA TATATATATATATATATATATA	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1548		chr6	TogoVar
IDI2_chr10_1013910_1030859	1015564	G G	GCTGGGGT others(99): Show GCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCACTGAGCCTGGG AGTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	434	0.0023	106	c.39 others(117): Show c.3952_*3953insGTCCACTCCCAGGCTCAGTGCTCAGCGCTCAGGA CCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGGTCCACTCCCA GGCTCAGCGCTCAGGACCCCAG	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3345		chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322547	T T	TATGGAAT others(99): Show TATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATA TACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAA CATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	323	0.0031	106	c.-25 others(117): Show c.-2509_-2508insATGGAATATATACATGGAACATATACATGGAATA TATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAA TATATATATATGGAACATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2422		chr21	TogoVar

Search by Variant

Search

Search Results