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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTN6_chr3_1088024_1409217	1245229	TATATATA others(86): Show TATATATACACACACACATATATATATAACATATATATATATATATACAC ACACATATATATATAACATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0192 a0001c0025t0001g0192	1	232	0.0043	-93	c.358 others(112): Show c.358+17237_358+17329delATATATACACACACACATATATATAT AACATATATATATATATATACACACACATATATATATAACATATATATAT ATATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTNAP3B_chr9_41885536_42134426	42118830	TCAAAATC others(86): Show TCAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTA TCTTGATTTGATACAAAATCAAGATTTTGTATCTTGATTTGATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp1 HG01106.hp2 others(6): Show HG00558.hp1 HG01071.hp1 HG01106.hp2 HG01981.hp1 HG02109.hp2 HG02922.hp2 NA18947.hp2 NA18970.hp2 NA19030.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0009 a0019 a0027	a0001c0001 a0001c0043 a0002c0002 others(5): Show a0001c0001 a0001c0043 a0002c0002 a0006c0007 a0007c0016 a0009c0008 a0019c0031 a0027c0026	a0001c0001t0002 a0001c0001t0003 a0001c0043t0015 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0043t0015 a0002c0002t0012 a0006c0007t0002 a0007c0016t0001 a0009c0008t0009 a0019c0031t0028 a0027c0026t0020	a0001c0001t0002g0024 a0001c0001t0003g0104 a0001c0043t0015g0013 others(6): Show a0001c0001t0002g0024 a0001c0001t0003g0104 a0001c0043t0015g0013 a0002c0002t0012g0043 a0006c0007t0002g0014 a0007c0016t0001g0036 a0009c0008t0009g0107 a0019c0031t0028g0088 a0027c0026t0020g0027	9	108	0.0833	-93	c.85+ others(110): Show c.85+10087_85+10179delTATCAAATCAAGATACAAAATCTTGATT TTGTATCAAATCAAGATACAAAATCTTGATTTTGTATCAAATCAAGATAC AAAATCTTGATTTTG	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/23			chr9	TogoVar
CNTRL_chr9_121069955_121182610	121092554	ATATATAT others(86): Show ATATATATAATATATATCTATATATATAATATATATCTATATATATAATA TATATCTATATATATTATATATATCTATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	330	0.0030	-93	c.348 others(110): Show c.348+2214_349-2177delTATATATATCTATATATATAATATATAT CTATATATAATATATATCTATATATATAATATATATCTATATATATAATA TATATCTATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTRL_chr9_121069955_121182610	121092649	ATATATAA others(86): Show ATATATAATATATATCTATATATATAATATATATCTATATATATAATATA TATCTATATATATAATATATATCTATATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18948.hp1 NA18949.hp2 HG03579.hp1 NA18948.hp1 NA18949.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0194 a0003c0004t0002g0123 a0003c0004t0002g0131 a0001c0001t0001g0194 a0003c0004t0002g0123 a0003c0004t0002g0131	3	330	0.0091	-93	c.349 others(110): Show c.349-2232_349-2140delATATATATCTATATATATAATATATATC TATATATATAATATATATCTATATATATAATATATATCTATATATATATA ATATATATCTATATA	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL26A1_chr7_101357875_101564024	101489659	TTCTTCCT others(86): Show TTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTT CTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0053 a0002c0007t0004g0053	1	174	0.0058	-93	c.385 others(112): Show c.385+41876_385+41968delTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489663	TCCTTCCT others(86): Show TCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02486.hp1 HG03139.hp2 others(2): Show HG00621.hp1 HG02486.hp1 HG03139.hp2 HG04199.hp1 NA18522.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0002c0004 a0006c0016 a0002c0003 a0002c0004 a0006c0016	a0002c0003t0001 a0002c0004t0001 a0006c0016t0004 a0002c0003t0001 a0002c0004t0001 a0006c0016t0004	a0002c0003t0001g0071 a0002c0003t0001g0100 a0002c0004t0001g0103 others(2): Show a0002c0003t0001g0071 a0002c0003t0001g0100 a0002c0004t0001g0103 a0002c0004t0001g0105 a0006c0016t0004g0035	5	174	0.0287	-93	c.385 others(112): Show c.385+41877_385+41969delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTC TCTTTCTTTCTTGTCTC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL4A2_chr13_110302284_110518209	110355292	TGGGGAGG others(86): Show TGGGGAGGGCTGCAGTAGCTCAACTGTGTGTGGGAGAGGGCTGCACTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0016 a0002c0055t0016	a0002c0055t0016g0250 a0002c0055t0016g0250	1	372	0.0027	-93	c.100 others(110): Show c.100-2175_100-2083delAGGGCTGCAGTAGCTCAACTGTGTGTGG GAGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGC TCACCTGTGTGGGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45988191	CTCCAGAT others(86): Show CTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0045 a0004c0005t0001g0045	1	128	0.0078	-93	c.804 others(108): Show c.804+561_804+653delGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGA GGGGACGGCGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CSF2RA_chrX_1263814_1314935	1314608	TGCACCTG others(86): Show TGCACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCTGCCCA ACTGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03704.hp2 HG03831.hp1 others(7): Show HG03490.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18960.hp1 NA18975.hp2 NA18980.hp1 NA18998.hp2 NA19063.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0022 a0001c0001 a0001c0002 a0006c0022	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0006c0022t0004	a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 others(7): Show a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0078 a0001c0001t0004g0094 a0001c0002t0002g0018 a0001c0002t0004g0037 a0001c0002t0004g0042 a0001c0002t0004g0050 a0006c0022t0004g0073	10	159	0.0629	-93	c.51 others(104): Show c.5130_*5222delGCACCTGCCCAACCACACTGAACCTGCTCAACCC CACTTCACCTGCCCAACTGCACTGCACTTGCCCAACCCCTCTGTGCCTGC CCAACCCCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4674		chrX	TogoVar
CTNNA3_chr10_65907523_67701195	67301966	AAGAAAGA others(86): Show AAGAAAGAAAAAAGAAAGAAAGAAAGAACGAAAGAACGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp1 HG03579.hp1 HG01243.hp1 HG03540.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0001 a0002c0002t0013 a0001c0001t0012 a0002c0002t0001 a0002c0002t0013	a0001c0001t0012g0038 a0002c0002t0001g0035 a0002c0002t0013g0026 a0001c0001t0012g0038 a0002c0002t0001g0035 a0002c0002t0013g0026	3	46	0.0652	-93	c.580 others(112): Show c.580-82189_580-82097delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCGTTCTTTCTTT CTTTCTTTTTTCTTTCT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTRL_chr16_67924574_67936862	67934906	CGGCGGTG others(86): Show CGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGT GATGGGTGTGTGAGACCTAACGGGCTCTCTCTGCTGTTAACTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	312	0.0032	-93	c.-31 others(104): Show c.-3147_-3055delTAAGTTAACAGCAGAGAGAGCCCGTTAGGTCTCA CACACCCATCACCGCAGCTGGAGGCTGCTCAGGGGCTGCTGGTGGAAGCC GTCACCGCC	CTRL	ENSG00000141086.18	transcript	ENST00000574481.6	protein_coding		3045		chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232097	TCACCACT others(86): Show TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG03098.hp1 others(3): Show HG01243.hp1 HG02451.hp2 HG03098.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0296 others(2): Show a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0296 a0001c0001t0004g0014 a0001c0001t0004g0367	6	396	0.0152	-93	c.513 others(109): Show c.513-1051_513-959delTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCC CACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774376	TGTATTCT others(86): Show TGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01106.hp1 others(21): Show HG00735.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02738.hp2 HG02896.hp1 HG03453.hp2 HG04184.hp2 NA18906.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0010t0003	a0001c0001t0003g0259 a0002c0002t0001g0193 a0002c0002t0003g0002 others(16): Show a0001c0001t0003g0259 a0002c0002t0001g0193 a0002c0002t0003g0002 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0080 a0002c0002t0003g0141 a0002c0002t0003g0159 a0002c0002t0003g0174 a0002c0002t0003g0209 a0002c0002t0003g0228 a0002c0002t0003g0231 a0002c0002t0003g0252 a0002c0002t0003g0320 a0002c0010t0003g0253	24	420	0.0571	-93	c.364 others(108): Show c.364-435_364-343delTGTAGGAGAATACATGTACTGTAGGAGAAT ACATGTAGGAGAATACTGTAGGAGAATACTGTAGAATACATGTAGGAGAA TACTGTAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1255012	CGCTGTGT others(86): Show CGCTGTGTGTGTGTCTTCTCCTGCCCAGCCGCTGTGTGTGTGTCCTCTCA TCCTGCCCGGCCGCTGTGTGTGTGTCCTCTCATCCTGCCTGGGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03492.hp1 HG02074.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0020 a0002c0001t0007 a0002c0001t0020	a0002c0001t0007g0038 a0002c0001t0020g0024 a0002c0001t0007g0038 a0002c0001t0020g0024	2	40	0.0500	-93	c.74- others(108): Show c.74-3824_74-3732delTTCTCCTGCCCAGCCGCTGTGTGTGTGTCC TCTCATCCTGCCCGGCCGCTGTGTGTGTGTCCTCTCATCCTGCCTGGGTG CTGTGTGTGTGTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642000	CCCCGCTG others(86): Show CCCCGCTGGTCCTCACCTGTGTCACCCTCGACCCTGCCGGCCCCCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	-93	c.181 others(112): Show c.1810+8960_1810+9052delTGGTCCTCACCTGTGTCACCCTCGAC CCTGCCGGCCCCCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGT GTCACCCTCGAACCCGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642102	CCCTCACC others(86): Show CCCTCACCTGTGTCACCCTCGACCCTGCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGTCCCCACCTGTGTCACCCTCCAACCCGCCGGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-93	c.181 others(112): Show c.1810+9081_1810+9173delTGCCGGTCCTCACCTGTGTCACCCTC GACCCCGCCGGTCCCCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACC TGTGTCACCCTCGACCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642842	GCCGGTCC others(86): Show GCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTC ACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-93	c.181 others(112): Show c.1810+9858_1810+9950delCCCGGTCCTCACCTGTGTCACCCTCG ACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCT GTGTCACCCTCGACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643653	TCCTCACC others(86): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-93	c.181 others(114): Show c.1810+10720_1810+10812delCAACCCGCCGGTCCTCACCTGTGT CACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGC CCTCACCTGTGTCACCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643954	CCCCGCCG others(86): Show CCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-93	c.181 others(114): Show c.1810+10917_1810+11009delCCCTCACCTGTGTCACCCTCGACC CCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTG TCACCCTCGAACCCGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643963	CCCTCACC others(86): Show CCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	-93	c.181 others(114): Show c.1810+10997_1810+11089delTCGAACCCGCCGGTCCTCACCTGT GTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCG GCCCTCACCTGTGTCACCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11730930	GTGGTGAT others(86): Show GTGGTGATGACGGTGATGATGATGATGGTGGTGGTGATGATGGTGATGAT GATGGAGATGATAATGGTGATGGTGGTAATGATGATGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20905.hp1 HG03239.hp2 NA20905.hp1	a0006 a0039 a0006 a0039	a0006c0103 a0039c0102 a0006c0103 a0039c0102	a0006c0103t0001 a0039c0102t0001 a0006c0103t0001 a0039c0102t0001	a0006c0103t0001g0134 a0039c0102t0001g0083 a0006c0103t0001g0134 a0039c0102t0001g0083	2	178	0.0112	-93	c.581 others(112): Show c.5814+3011_5814+3103delGTGATGACGGTGATGATGATGATGGT GGTGGTGATGATGGTGATGATGATGGAGATGATAATGGTGATGGTGGTAA TGATGATGGTGGTGATG	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	28/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP6_chr7_154047398_154899285	154817770	TGATGGAT others(86): Show TGATGGATGATGTCATGAATGTCCTGAGTGATTAATGACATGAGCATCAT GAGTGATTGATGGGTGATGTCATGAATGTCCTGAGTGATTGATG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01071.hp1 others(17): Show HG00558.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02280.hp1 HG02559.hp1 HG02965.hp2 HG03453.hp2 NA18747.hp1 NA18747.hp2 NA19043.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0017 a0001c0020 a0001c0025 a0001c0027 a0002c0002 a0002c0004 a0002c0005 a0002c0012 a0002c0019 a0002c0023 a0002c0026	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0003t0007 a0001c0006t0002 a0001c0006t0003 a0001c0007t0005 a0001c0007t0019 a0001c0017t0020 a0001c0020t0001 a0001c0025t0001 a0001c0027t0027 a0002c0002t0022 a0002c0002t0029 a0002c0004t0006 a0002c0005t0015 a0002c0012t0021 a0002c0019t0001 a0002c0023t0014 a0002c0026t0026	a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(17): Show a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0017t0020g0033 a0001c0020t0001g0010 a0001c0025t0001g0018 a0001c0027t0027g0007 a0002c0002t0022g0030 a0002c0002t0029g0002 a0002c0004t0006g0028 a0002c0005t0015g0011 a0002c0012t0021g0035 a0002c0019t0001g0021 a0002c0023t0014g0017 a0002c0026t0026g0006	20	38	0.5263	-93	c.166 others(114): Show c.1666+10663_1666+10755delGATGATGTCATGAATGTCCTGAGT GATTAATGACATGAGCATCATGAGTGATTGATGGGTGATGTCATGAATGT CCTGAGTGATTGATGGATG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4G3_chr1_20801479_21181897	20981555	CATACATA others(86): Show CATACATACATGTATACGCACATACTGTATGTATACATACATGTATACGC ACATACTGTATGTATACATACATGTATACGCACATACTGTATGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0253 a0001c0001t0003g0243 a0001c0001t0003g0253	2	312	0.0064	-93	c.199 others(108): Show c.199-421_199-329delACATACAGTATGTGCGTATACATGTATGTA TACATACAGTATGTGCGTATACATGTATGTATACATACAGTATGTGCGTA TACATGTATGTAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20981650	TACATACA others(86): Show TACATACATGTATACGCACATACTGTATGTATACATACATGTATACGCAC ATACTGTATGTATACATACATGTATACGCACATACTGTATATAC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18987.hp2 NA18949.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0064 a0001c0001t0002g0052 a0001c0001t0002g0064	2	312	0.0064	-93	c.199 others(108): Show c.199-516_199-424delGTATATACAGTATGTGCGTATACATGTATG TATACATACAGTATGTGCGTATACATGTATGTATACATACAGTATGTGCG TATACATGTATGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36			chr1	TogoVar
ELAC2_chr17_12986612_13023027	13019641	TTTGGGAG others(86): Show TTTGGGAGGCCAAGGCGGGAGAATAGCTTCAGGCTAGTAGTTCAAAACCT GCTCTGTGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0093 a0002c0008t0012g0093	1	400	0.0025	-93	c.-17 others(104): Show c.-1787_-1695delGTGCTGGGATTACAGGCATAAGCCACCATGCCTG GCCACAGAGCAGGTTTTGAACTACTAGCCTGAAGCTATTCTCCCGCCTTG GCCTCCCAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		1615		chr17	TogoVar
EOGT_chr3_68970225_69018684	68974821	AAGTGGAA others(86): Show AAGTGGAATGGAAGACTTCCCTAAACGAATGGAAGACTGTGAACGTGGAA TCAGAAGGCTTGTGATCTTCAGGGAAGTCCCATAACTTCCCTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0106 a0001c0001t0012g0106	1	444	0.0023	-93	c.27 others(104): Show c.2704_*2796delCTAGGGAAGTTATGGGACTTCCCTGAAGATCACA AGCCTTCTGATTCCACGTTCACAGTCTTCCATTCGTTTAGGGAAGTCTTC CATTCCACT	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		403		chr3	TogoVar
ERFL_chr19_41902704_41933449	41914555	CTTCCACC others(86): Show CTTCCACCATCTCTGTCTCCGTCTCTCCCTCCCTTTCCACCATCTCTGTC TCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01258.hp2 HG03098.hp2 others(4): Show HG01099.hp1 HG01258.hp2 HG03098.hp2 HG03239.hp1 HG03831.hp1 HG03834.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0009 a0005c0009t0003	a0001c0001t0001g0074 a0001c0001t0003g0236 a0001c0001t0003g0261 others(4): Show a0001c0001t0001g0074 a0001c0001t0003g0236 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0002t0002g0132 a0001c0002t0009g0159 a0005c0009t0003g0242	7	330	0.0212	-93	c.-13 others(110): Show c.-13-1716_-13-1624delAGGGAGGGAGAGACAGAGACAGAGATGG TGGAAGGGGAGGGAGAGACAGAGATGGTGGAAAGGGAGGGAGAGACGGAG ACAGAGATGGTGGAA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
EXT1_chr8_117789490_118116826	117862428	ATGTAAAT others(86): Show ATGTAAATAAAACGGGTGGAGACTGGTGGGATTAGGAGGAATCAGGGTTG ACCACCTCAGAAGGGAGAAATATATTGAATCCACTCTATAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(8): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG01071.hp2 HG01074.hp2 HG01884.hp1 HG02145.hp1 HG03239.hp2 HG04115.hp1 NA19043.hp1 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0046 a0001c0006t0001 a0001c0006t0004 a0001c0006t0009	a0001c0003t0001g0047 a0001c0003t0002g0098 a0001c0003t0002g0106 others(8): Show a0001c0003t0001g0047 a0001c0003t0002g0098 a0001c0003t0002g0106 a0001c0003t0002g0130 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0007g0133 a0001c0003t0046g0094 a0001c0006t0001g0135 a0001c0006t0004g0020 a0001c0006t0009g0074	11	190	0.0579	-93	c.963 others(112): Show c.963-25320_963-25228delCTTTTATAGAGTGGATTCAATATATT TCTCCCTTCTGAGGTGGTCAACCCTGATTCCTCCTAATCCCACCAGTCTC CACCCGTTTTATTTACA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
FBXL12_chr19_9805270_9824079	9808134	CACAATCT others(86): Show CACAATCTCGGCTCTCTGCAACCTCCTATCTATCTATCTATATTTATTTT TGAAACAGAGTCTCTCTCTGTTGCCCAGACTGGAGTGCAGTGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0064 a0003c0005t0003g0064	1	338	0.0030	-93	c.26 others(104): Show c.2669_*2761delACCACTGCACTCCAGTCTGGGCAACAGAGAGAGA CTCTGTTTCAAAAATAAATATAGATAGATAGATAGGAGGTTGCAGAGAGC CGAGATTGT	FBXL12	ENSG00000127452.9	transcript	ENST00000247977.9	protein_coding		2135		chr19	TogoVar
FBXO8_chr4_174231658_174288667	174265236	ATAAAAGC others(86): Show ATAAAAGCTTTTTATTTAGGTATTTACCTAATTAAAAGCTTTTTATTTAG GTATTTACCTAATTAAAAGCTTTTTATTTAGGTATTTACCTAAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	376	0.0053	-93	c.-8- others(108): Show c.-8-2229_-8-2137delATTAGGTAAATACCTAAATAAAAAGCTTTT AATTAGGTAAATACCTAAATAAAAAGCTTTTAATTAGGTAAATACCTAAA TAAAAAGCTTTTA	FBXO8	ENSG00000164117.14	transcript	ENST00000393674.7	protein_coding	1/5			chr4	TogoVar
FGL1_chr8_17859389_17900524	17882979	TATATAAT others(86): Show TATATAATATATATCATATGTAATATATTAAATATATAATATATATCATA TGTAATATATTAAATATATAATATATATCATATGTAATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02818.hp2 others(4): Show HG02258.hp2 HG02572.hp2 HG02818.hp2 HG03041.hp2 HG03834.hp2 HG04228.hp2 NA19240.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0008 a0004c0004 a0008c0008	a0004c0004t0001 a0004c0004t0004 a0008c0008t0002 a0004c0004t0001 a0004c0004t0004 a0008c0008t0002	a0004c0004t0001g0047 a0004c0004t0001g0270 a0004c0004t0001g0271 others(4): Show a0004c0004t0001g0047 a0004c0004t0001g0270 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0004g0041 a0008c0008t0002g0168 a0008c0008t0002g0169	7	366	0.0191	-93	c.64- others(106): Show c.64-893_64-801delTAATATATTACATATGATATATATTATATATT TAATATATTACATATGATATATATTATATATTTAATATATTACATATGAT ATATATTATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FHIT_chr3_59742277_61256452	60860741	CATATATA others(86): Show CATATATATCAGGTATATATGATACATATGTATCATATATCAGGTATATA TGATACATATGTACATATATATCAGGTATATATGATACATATGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	46	0.0217	-93	c.-11 others(114): Show c.-110-38823_-110-38731delACATATGTATCATATATACCTGAT ATATATGTACATATGTATCATATATACCTGATATATGATACATATGTATC ATATATACCTGATATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FMN2_chr1_240086883_240480187	240139270	CACTGTGT others(86): Show CACTGTGTGTAAAATTCACAATGAGGAGCAGGTTGTGGGGATGATTGGTT CAATTAAAATCCTACTGAATTTGAGGATACCTCTTTAAATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(70): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01106.hp2 HG01123.hp2 HG01261.hp1 HG01346.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp1 NA18972.hp1 NA19000.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19077.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0013 a0016 a0018 a0019 a0022 a0023 a0024 a0026 a0027 a0029 a0030 a0032 a0035 a0038 a0040 a0041 a0044 a0048 a0056 a0058 a0059 a0065 a0066 a0068 a0072 a0074 a0075 a0078 a0079 a0085 a0086 a0088 a0092	a0001c0001 a0001c0017 a0001c0076 others(54): Show a0001c0001 a0001c0017 a0001c0076 a0001c0129 a0002c0007 a0002c0008 a0002c0101 a0002c0127 a0003c0010 a0004c0114 a0006c0023 a0006c0072 a0006c0077 a0007c0071 a0008c0019 a0008c0055 a0008c0110 a0009c0004 a0010c0003 a0013c0020 a0013c0081 a0016c0011 a0016c0027 a0018c0095 a0018c0131 a0019c0022 a0022c0092 a0022c0093 a0023c0013 a0024c0036 a0026c0042 a0026c0043 a0027c0014 a0029c0063 a0030c0062 a0032c0096 a0035c0118 a0038c0126 a0040c0090 a0041c0111 a0044c0088 a0048c0078 a0056c0087 a0058c0074 a0059c0075 a0065c0112 a0066c0107 a0068c0133 a0072c0056 a0074c0058 a0075c0057 a0078c0037 a0079c0034 a0085c0048 a0086c0046 a0088c0045 a0092c0028	a0001c0001t0002 a0001c0017t0004 a0001c0076t0004 others(59): Show a0001c0001t0002 a0001c0017t0004 a0001c0076t0004 a0001c0129t0001 a0002c0007t0002 a0002c0008t0003 a0002c0101t0006 a0002c0127t0001 a0003c0010t0001 a0003c0010t0003 a0004c0114t0006 a0006c0023t0001 a0006c0072t0002 a0006c0077t0004 a0007c0071t0004 a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 a0008c0110t0003 a0009c0004t0003 a0010c0003t0003 a0010c0003t0006 a0013c0020t0001 a0013c0081t0002 a0016c0011t0001 a0016c0011t0007 a0016c0027t0001 a0018c0095t0008 a0018c0131t0005 a0019c0022t0006 a0022c0092t0001 a0022c0093t0006 a0023c0013t0001 a0023c0013t0003 a0024c0036t0001 a0026c0042t0001 a0026c0043t0003 a0027c0014t0001 a0029c0063t0009 a0030c0062t0009 a0032c0096t0003 a0035c0118t0007 a0038c0126t0008 a0040c0090t0002 a0041c0111t0001 a0044c0088t0009 a0048c0078t0002 a0056c0087t0002 a0058c0074t0002 a0059c0075t0002 a0065c0112t0003 a0066c0107t0001 a0068c0133t0005 a0072c0056t0001 a0074c0058t0001 a0075c0057t0001 a0078c0037t0001 a0079c0034t0001 a0085c0048t0001 a0086c0046t0001 a0088c0045t0001 a0092c0028t0001	a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0071 others(70): Show a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0084 a0001c0001t0002g0169 a0001c0017t0004g0068 a0001c0076t0004g0083 a0001c0129t0001g0164 a0002c0007t0002g0062 a0002c0007t0002g0063 a0002c0008t0003g0104 a0002c0008t0003g0124 a0002c0008t0003g0125 a0002c0101t0006g0130 a0002c0127t0001g0137 a0003c0010t0001g0074 a0003c0010t0003g0073 a0004c0114t0006g0108 a0006c0023t0001g0078 a0006c0023t0001g0080 a0006c0072t0002g0086 a0006c0077t0004g0096 a0007c0071t0004g0064 a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 a0008c0110t0003g0170 a0009c0004t0003g0043 a0009c0004t0003g0048 a0010c0003t0003g0026 a0010c0003t0006g0154 a0013c0020t0001g0082 a0013c0020t0001g0106 a0013c0081t0002g0099 a0016c0011t0001g0159 a0016c0011t0007g0158 a0016c0027t0001g0160 a0018c0095t0008g0167 a0018c0131t0005g0146 a0019c0022t0006g0135 a0019c0022t0006g0162 a0022c0092t0001g0107 a0022c0093t0006g0138 a0023c0013t0001g0010 a0023c0013t0003g0028 a0024c0036t0001g0023 a0026c0042t0001g0004 a0026c0043t0003g0014 a0027c0014t0001g0036 a0029c0063t0009g0059 a0030c0062t0009g0058 a0032c0096t0003g0128 a0035c0118t0007g0136 a0038c0126t0008g0156 a0040c0090t0002g0081 a0041c0111t0001g0132 a0044c0088t0009g0094 a0048c0078t0002g0053 a0056c0087t0002g0049 a0058c0074t0002g0002 a0059c0075t0002g0089 a0065c0112t0003g0112 a0066c0107t0001g0134 a0068c0133t0005g0153 a0072c0056t0001g0144 a0074c0058t0001g0143 a0075c0057t0001g0142 a0078c0037t0001g0008 a0079c0034t0001g0013 a0085c0048t0001g0029 a0086c0046t0001g0030 a0088c0045t0001g0005 a0092c0028t0001g0145	73	174	0.4195	-93	c.178 others(114): Show c.1782+15928_1782+16020delTGTGTGTAAAATTCACAATGAGGA GCAGGTTGTGGGGATGATTGGTTCAATTAAAATCCTACTGAATTTGAGGA TACCTCTTTAAATATATAC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXN3_chr14_89151177_89422233	89360829	CCACTACC others(86): Show CCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCC ACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	230	0.0044	-93	c.544 others(112): Show c.544-10114_544-10022delCTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTAGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360922	GCACCACC others(86): Show GCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	230	0.0044	-93	c.544 others(112): Show c.544-10207_544-10115delGTGGAGGTGGTGGTGGAGGTGGTGCT GGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGG TGGTGGTGGAGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361513	ACCTCCAC others(86): Show ACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0033 a0001c0001t0013g0033	1	230	0.0044	-93	c.544 others(112): Show c.544-10798_544-10706delAGGTAGTGCTGGAGGTGGTAGTGGTG GAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGT GGAGGTGGTGGTGGAGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361714	AGCACTAC others(86): Show AGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCACCTCCACCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp2 HG01123.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0096 a0001c0001t0012g0107 a0001c0001t0005g0096 a0001c0001t0012g0107	2	230	0.0087	-93	c.544 others(112): Show c.544-10999_544-10907delAGGTGGTGGTGGTGGAGGTGGTGGTG CTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTAGTGC	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362001	CACCTCCA others(86): Show CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCA CCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	230	0.0044	-93	c.544 others(112): Show c.544-11286_544-11194delAGTGGTGGAGGTGGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGCTGGAGGTGGTAGTGGTG GAGGTGGTGGTGGAGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRMD1_chr6_168048095_168084212	168077378	GGGGGGGT others(86): Show GGGGGGGTTCCTGTCTAACTGCAGACATAGATGACTGCACAACCCAGTGA GGGGTTCCTGTCCAACTGCAGACACAGATGTGCACACACCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	402	0.0025	-93	c.213 others(110): Show c.213+1411_213+1503delACAGGGTGTGTGCACATCTGTGTCTGCA GTTGGACAGGAACCCCTCACTGGGTTGTGCAGTCATCTATGTCTGCAGTT AGACAGGAACCCCCC	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FSHR_chr2_48957157_49159515	49127742	TTCTTCTT others(86): Show TTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA20129.hp1 HG01175.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0113 a0002c0002t0001g0177 a0001c0001t0002g0113 a0002c0002t0001g0177	2	350	0.0057	-93	c.152 others(112): Show c.152+26431_152+26523delGAAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAAGAAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
GABRG3_chr15_26966181_27546984	27388064	GGTAAGGA others(86): Show GGTAAGGAAGGAAGGAAGGAAAGGAGGGAGGAAAGGGAGGGAGGGAAAAG AAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0005 a0001c0003t0001 a0001c0005t0005	a0001c0003t0001g0066 a0001c0005t0005g0037 a0001c0003t0001g0066 a0001c0005t0005g0037	2	92	0.0217	-93	c.574 others(112): Show c.574+59178_574+59270delTAAGGAAGGAAGGAAGGAAAGGAGGG AGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGAGGGAGGGAGG GTAAGGAAGGAAGGAAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388066	TAAGGAAG others(86): Show TAAGGAAGGAAGGAAGGAAAGGAGGGAGGAAAGGGAGGGAGGGAAAAGAA GGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA21309.hp2 HG03098.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0021 a0001c0009t0002 a0001c0001t0021 a0001c0009t0002	a0001c0001t0021g0072 a0001c0009t0002g0089 a0001c0001t0021g0072 a0001c0009t0002g0089	2	92	0.0217	-93	c.574 others(112): Show c.574+59207_574+59299delAAAGGGAGGGAGGGAAAAGAAGGAAG GAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAG GAAGGAAAGGAGGGAGG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292367	TATATATA others(86): Show TATATATATATATCAGATATATATCGTATCTCTGATATATATATCAGATA TATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	366	0.0027	-93	c.220 others(110): Show c.220+7299_220+7391delCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATCTGATATATATATCAGAGATACGATATATAT CTGATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292400	GATATATA others(86): Show GATATATATATCAGATATATCGTATCTCTGATATATATATCAGATATATA TCGTATCTCTGATATATATATCAGATATATATCGTATCTCTGAT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG02896.hp1 others(4): Show HG00741.hp2 HG02451.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03139.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0002 a0002c0003t0004 a0001c0001t0006 a0002c0003t0002 a0002c0003t0004	a0001c0001t0006g0308 a0002c0003t0002g0284 a0002c0003t0002g0285 others(4): Show a0001c0001t0006g0308 a0002c0003t0002g0284 a0002c0003t0002g0285 a0002c0003t0002g0303 a0002c0003t0002g0355 a0002c0003t0002g0356 a0002c0003t0004g0302	7	366	0.0191	-93	c.220 others(110): Show c.220+7266_220+7358delATCAGAGATACGATATATATCTGATATA TATATCAGAGATACGATATATATCTGATATATATATCAGAGATACGATAT ATCTGATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GALNT9_chr12_132191372_132334589	132231671	AGACAGCG others(86): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0009 a0001c0035t0009	a0001c0035t0009g0140 a0001c0035t0009g0140	1	183	0.0055	-93	c.107 others(114): Show c.1077+16146_1077+16238delCCTGTCACCCCATCGAGTGTGTGG CACTAGGGACTCCACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCA CTAGGGACTCCACGCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231694	CACACACT others(86): Show CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01928.hp2 HG02257.hp1 others(2): Show HG01243.hp2 HG01928.hp2 HG02257.hp1 HG02735.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0015 others(1): Show a0001c0003 a0001c0006 a0001c0015 a0001c0021	a0001c0003t0001 a0001c0006t0001 a0001c0015t0001 others(1): Show a0001c0003t0001 a0001c0006t0001 a0001c0015t0001 a0001c0021t0004	a0001c0003t0001g0093 a0001c0003t0001g0137 a0001c0006t0001g0097 others(2): Show a0001c0003t0001g0093 a0001c0003t0001g0137 a0001c0006t0001g0097 a0001c0015t0001g0067 a0001c0021t0004g0155	5	183	0.0273	-93	c.107 others(114): Show c.1077+16123_1077+16215delAGCACTAGGGGCTCCACGCTGTCC CTGTCACCCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCT GTCGCCCCATCGAGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231758	TGACAGGG others(86): Show TGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	183	0.0055	-93	c.107 others(114): Show c.1077+16059_1077+16151delGCCCCATCGAGTGTGTGGCACTAG GGACTCCACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTAGCACTAGGG GCTCCACGCTGTCCCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232219	CACACACT others(86): Show CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02615.hp2 HG02717.hp2 others(1): Show HG01928.hp2 HG02615.hp2 HG02717.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0014t0003	a0001c0001t0001g0059 a0001c0002t0001g0080 a0001c0003t0001g0137 others(1): Show a0001c0001t0001g0059 a0001c0002t0001g0080 a0001c0003t0001g0137 a0001c0014t0003g0146	4	183	0.0219	-93	c.107 others(114): Show c.1077+15598_1077+15690delAGCACTAGGGGCTCCACGCTGTCC CTGTCACCCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTCTCCTCT GTCGCCCCATCGAGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GBP5_chr1_89251189_89277860	89252349	AGGAGACA others(86): Show AGGAGACATAATGGGTACTGCAGAAATTCAAAGGATCATTAGTGGCTACT ATGAAAAACTATATGCCAATACATTGAAAAATCTGGAAGAAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03225.hp2 others(1): Show HG02717.hp1 HG02723.hp2 HG03225.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0014 a0001c0002t0027 a0003c0004t0003 a0001c0001t0014 a0001c0002t0027 a0003c0004t0003	a0001c0001t0014g0033 a0001c0002t0027g0065 a0003c0004t0003g0034 a0001c0001t0014g0033 a0001c0002t0027g0065 a0003c0004t0003g0034	4	432	0.0093	-93	c.82 others(104): Show c.8262_*8354delCATTTCTTCCAGATTTTTCAATGTATTGGCATAT AGTTTTTCATAGTAGCCACTAATGATCCTTTGAATTTCTGCAGTACCCAT TATGTCTCC	GBP5	ENSG00000154451.15	transcript	ENST00000370459.8	protein_coding		3839		chr1	TogoVar
GGT1_chr22_24598193_24633996	24605462	AATATAAT others(86): Show AATATAATATTATATAATGTGTATTATATATTATATAATATTATATAATG TGTATTATATATTATATAATATTATATAATGTGTATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0025 a0001c0007t0025	a0001c0007t0025g0275 a0001c0007t0025g0275	1	426	0.0024	-93	c.-42 others(112): Show c.-429+1966_-429+2058delTATATAATATTATATAATGTGTATTA TATATTATATAATATTATATAATGTGTATTATATATTATATAATATTATA TAATGTGTATTATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)