Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FNDC11_chr20_63549159_63561695	63559834	T T	TGGGAGGA others(236): Show TGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAG TCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAG GTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTC AGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGAT GGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	416	0.0024	243	c.32 others(254): Show c.3214_*3215insGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGG TCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG AGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTC AGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAG GAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGG TCAGGTGGG		FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding					3140		chr20	TogoVar
FOXK2_chr17_82514732_82609602	82586499	C C	CGGGGGGG others(236): Show CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCA GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0210 a0001c0001t0014g0210	1	308	0.0033	243	c.157 others(260): Show c.1576+299_1576+300insGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGG		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8						chr17	TogoVar
FOXN3_chr14_89151177_89422233	89362214	C C	CACCTCCA others(236): Show CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCA CCACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACTACCACC TCCACCACTACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCA CCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	230	0.0044	243	c.544 others(262): Show c.544-11407_544-11406insAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAG GTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGT GGAGGTGGTAGTGGTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGG TGGTGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTG GAGGTGGTGGTGGAGGT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(236): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGC AGTGGCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01071.hp2 others(12): Show HG00639.hp1 HG00735.hp2 HG01071.hp2 HG02258.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG04199.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 a0001c0001t0030 a0001c0001t0032 a0001c0001t0042 a0001c0001t0046 a0001c0001t0056 a0001c0001t0075 a0001c0001t0078	a0001c0001t0002g0051 a0001c0001t0002g0080 a0001c0001t0003g0026 others(12): Show a0001c0001t0002g0051 a0001c0001t0002g0080 a0001c0001t0003g0026 a0001c0001t0003g0086 a0001c0001t0005g0022 a0001c0001t0009g0016 a0001c0001t0012g0063 a0001c0001t0022g0047 a0001c0001t0030g0002 a0001c0001t0032g0089 a0001c0001t0042g0059 a0001c0001t0046g0017 a0001c0001t0056g0093 a0001c0001t0075g0030 a0001c0001t0078g0028	15	96	0.1563	243	c.-72 others(262): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CACCCCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGTGG GTACATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGC AGCCAAGAAGGCTGCTT		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20						chr3	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(236): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGC AGTGGCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01516.hp2 HG02622.hp1 others(1): Show HG01496.hp1 HG01516.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0058 a0001c0001t0071 others(1): Show a0001c0001t0019 a0001c0001t0058 a0001c0001t0071 a0001c0001t0079	a0001c0001t0019g0088 a0001c0001t0058g0076 a0001c0001t0071g0064 others(1): Show a0001c0001t0019g0088 a0001c0001t0058g0076 a0001c0001t0071g0064 a0001c0001t0079g0014	4	96	0.0417	243	c.-72 others(262): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CACACCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATAATTTGTGG GTACATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGC AGCCAAGAAGGCTGCTT		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20						chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(236): Show CCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCC CCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCCTCCCCCCGCCCACCC ACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCCG CCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0000 a0004c0003t0005g0000	1	406	0.0025	243	c.33 others(254): Show c.3310_*3311insCTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCC TCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCC GCCCACTTCTCCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTC CTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(236): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGAGGGGATGGGGG TGGGGGGGAGGGGATGGGCGGGGGGGAGGGGCGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	364	0.0028	243	c.-20 others(252): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGG GAGGGGATGGGGGTGGGGGGGAGGGGATGGGCGGGGGGGAGGGGCGGGGG GAGGGGA		GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding					124		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807370	A A	ACCCTCCC others(236): Show ACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	314	0.0032	243	c.32 others(254): Show c.3204_*3205insCCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3084		chr2	TogoVar
GALR1_chr18_77244848_77282900	77258602	C C	CATGGTGG others(236): Show CATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTCATGG TGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTCATAGTG GTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTGGGTGGTGATGG TGGTGGTGGTCATGTGGTGGTGGTGGTGATGATGGCCATGGTGGTGATGG TAGTGATGGTGGTGATGATGGTGGTGATGATGGTCATGGTGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01069.hp1 others(21): Show HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01168.hp1 HG01169.hp2 HG01496.hp2 HG02083.hp1 HG02615.hp1 HG02698.hp2 HG02886.hp1 HG03491.hp2 HG03492.hp1 NA18947.hp1 NA18949.hp1 NA18961.hp1 NA18966.hp2 NA18968.hp1 NA18982.hp2 NA18986.hp2 NA18991.hp2 NA19005.hp1 NA19065.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0019 a0001c0001t0032 others(7): Show a0001c0001t0008 a0001c0001t0019 a0001c0001t0032 a0001c0001t0056 a0001c0001t0145 a0001c0001t0150 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0022	a0001c0001t0008g0298 a0001c0001t0019g0232 a0001c0001t0019g0234 others(19): Show a0001c0001t0008g0298 a0001c0001t0019g0232 a0001c0001t0019g0234 a0001c0001t0019g0235 a0001c0001t0019g0236 a0001c0001t0032g0230 a0001c0001t0032g0231 a0001c0001t0032g0240 a0001c0001t0056g0017 a0001c0001t0145g0233 a0001c0001t0150g0055 a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0205 a0001c0002t0004g0003 a0001c0002t0004g0201 a0001c0002t0004g0203 a0001c0002t0007g0003 a0001c0002t0022g0170	24	366	0.0656	243	c.732 others(260): Show c.732+2423_732+2424insCATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGTGGT GATGGTGATGGTGGTGGGTGGTGATGGTGGTGGTGGTCATGTGGTGGTGG TGGTGATGATGGCCATGGTGGTGATGGTAGTGATGGTGGTGATGATGGTG GTGATGATGGTCATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGT		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77258633	G G	GTGATGGT others(236): Show GTGATGGTGGTGGTCATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGTGGTGATGGTGA TGGTGGTGGGTGGTGATGGTGGTGGTGGTCATGTGGTGGTGGTGGTGATG ATGGCCATGGTGGTGATGGTAGTGATGGTGGTGATGATGGTGGTGATGAT GGTCATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0229 a0001c0001t0019g0229	1	366	0.0027	243	c.732 others(260): Show c.732+2423_732+2424insCATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGTGGT GATGGTGATGGTGGTGGGTGGTGATGGTGGTGGTGGTCATGTGGTGGTGG TGGTGATGATGGCCATGGTGGTGATGGTAGTGATGGTGGTGATGATGGTG GTGATGATGGTCATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGATGGTGGTGGT		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GLB1L3_chr11_134271379_134324564	134308467	C C	CCATGTCC others(236): Show CCATGTCCACCACCACTACCACCACCATCACCATCACCATCACCACCACC ACCACCACCATCACCATCACCATCATCACCATCACCACTACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCATCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCATCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0100 a0001c0005t0002g0100	1	422	0.0024	243	c.962 others(260): Show c.962-1157_962-1156insTGTCCACCACCACTACCACCACCATCAC CATCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCA TCACCACTACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCATCACCATCACCACCATCACCACCACCACCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCATCACCATCACCA CCACCACCACCATCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129861	T T	TTCTCCTC others(236): Show TTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTC CTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCC GTATCTTCTCCTCCTGCCTCCACACCTTCTCCTCCTGCTCCCGTATCTTC TCCTCCTGCCTCCACATCTTATCCTCCTGCTCCTGCCTCTTCTCCTCCTC CCATATCTTCTCCTGCTCATGCATCTTCTCTTCCTCCCTCCACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp1 HG02572.hp1 HG02965.hp1 others(3): Show HG02258.hp1 HG02572.hp1 HG02965.hp1 HG03130.hp2 NA19043.hp1 NA19043.hp2	a0018 a0046 a0054 others(2): Show a0018 a0046 a0054 a0059 a0070	a0018c0018 a0046c0033 a0054c0050 others(2): Show a0018c0018 a0046c0033 a0054c0050 a0059c0043 a0070c0060	a0018c0018t0006 a0018c0018t0009 a0046c0033t0006 others(3): Show a0018c0018t0006 a0018c0018t0009 a0046c0033t0006 a0054c0050t0009 a0059c0043t0006 a0070c0060t0009	a0018c0018t0006g0086 a0018c0018t0009g0082 a0046c0033t0006g0060 others(3): Show a0018c0018t0006g0086 a0018c0018t0009g0082 a0046c0033t0006g0060 a0054c0050t0009g0087 a0059c0043t0006g0085 a0070c0060t0009g0103	6	204	0.0294	243	c.159 others(252): Show c.1591_1592insTGTGGAGGGAGGAAGAGAAGATGCATGAGCAGGAGA AGATATGGGAGGAGGAGAAGAGGCAGGAGCAGGAGGATAAGATGTGGAGG CAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGGTGTGGAGGCAGGAGGA GAAGATACGGGAGCAGGAGGAAAAGAGGCAGGAGCAGGAGGAGAAGATGT GGAAGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGAAGATACGGGAGCAG GAGGAGA	p.Glu others(256): Show p.Glu530_Lys531insMetTrpArgGluGluGluLysMetHisGluGl nGluLysIleTrpGluGluGluLysArgGlnGluGlnGluAspLysMetT rpArgGlnGluGluLysIleArgGluGlnGluGluLysValTrpArgGln GluGluLysIleArgGluGlnGluGluLysArgGlnGluGlnGluGluLy sMetTrpLysGlnGluGluLysIleArgGluGlnGluGluLysIleArgG luGlnGluGlu	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1682/3822	1591/2007	531/668			chr15	TogoVar
GPA33_chr1_167047836_167095377	167056759	G G	GTGTGTGT others(236): Show GTGTGTGTGGTGTATGGTGTTCTGGGGTGTCTGAGTGGTATATGTGTGGT ATGGGGGCAGTGTGTGTGTTGTGTGTAGTGTATGGTATGTGAGGGGTGTG TGTATGGTGTGTGTAGTGTGTGTGATGCATGTGGTGTGTGTGATGAGTGT GATGTGTGTGGTGTGTGTAGTATGTGTGGTGTGTGTGGCGAGTGTGATGT GTGTGGTGTGTGTAGTGTGTATGGTGCATATGGTGAGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0100 a0002c0002t0003g0100	1	370	0.0027	243	c.572 others(258): Show c.572-911_572-910insACACACACTCACCATATGCACCATACACAC TACACACACCACACACATCACACTCGCCACACACACCACACATACTACAC ACACCACACACATCACACTCATCACACACACCACATGCATCACACACACT ACACACACCATACACACACCCCTCACATACCATACACTACACACAACACA CACACTGCCCCCATACCACACATATACCACTCAGACACCCCAGAACACCA TACACCACACACA		GPA33	ENSG00000143167.12	transcript	ENST00000367868.4	protein_coding	4/6						chr1	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TGTATATT others(236): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTATATAATATATTGTATATTATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATAATATACAATATATTATATAATATATAATATACA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	384	0.0026	243	c.-34 others(258): Show c.-34-790_-34-789insGTATATTATATAATATATTGTATATTATAT AATATATTGTATATTGTATATTATATATAATATATTGTATATTATATATA ATATATTGTATATTATATATTATATAATATATTGTATATTATATATTATA TAATATATTGTATATTATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTATATAATATATAATATACAATATATTATATAA TATATAATATACA		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2						chr6	TogoVar
HELZ2_chr20_63553086_63579239	63559834	T T	TGGGAGGA others(236): Show TGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAG TCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAG GTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTC AGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGAT GGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0072 a0004c0008t0016g0072	1	390	0.0026	243	c.782 others(258): Show c.7825+93_7825+94insCCCACCTGACCCTGACTCCTCCCACCTGAC TCTGACTGACTCCCATCTGACCCTGACTCCTCCCACCTGACCCTGACTCC TCCCACCTGACCCTGACTGACTCCCACCTGACCCTGACTCCTCCCACCTG ACCCTGACTCCGACCTGACCCTGACTCCTCCCACCTGACCCTGACTCCTC CCACCTGACTCTGACTGACTCCCATCTGACCCTGACTCCTCCCACCTGAC CCTGACTCCTCCC		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HERC3_chr4_88587480_88713539	88699285	T T	TTCCCCAC others(236): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCTTCCCC ACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCC CACCCTCTTCCTCCCCACCCACCCACCCAGCCCCACCCTCTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	2	296	0.0068	243	c.265 others(262): Show c.2658-4786_2658-4785insCACTCATCGACCCAGCTCCACCCTCT TCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCCCTAC CCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCTTCCCCACCC ACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCCCACC CTCTTCCTCCCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCA CCCACCCAGCCCCACCC		HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(236): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTCATATATAC ATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACAT GTTATATTACATGTATATATACATGTTATATTACATGTATATATACATGT TATATTACATGTATATATACATGTTATATTACATGTATATATACATGTTA TATTACATGTATATATACATGTTATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG03139.hp1 HG02109.hp2 HG02717.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0120 a0001c0001t0001g0255 a0001c0013t0001g0070 a0001c0001t0001g0120 a0001c0001t0001g0255 a0001c0013t0001g0070	3	344	0.0087	243	c.31 others(254): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTCATATATACATGTTATATTACATGTATATATACATGTTATATTA CATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACA TGTATATATACATGTTATATTACATGTATATATACATGTTATATTACATG TATATATACATGTTATATTACATGTATATATACATGTTATATTACATGTA TATATACAT		HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding					2583		chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33323247	G G	GAATGTAT others(236): Show GAATGTATATATATGGAATATATATATATGGAATGTATATATATGGAATA TATATATGGAATGTATATATGGAATATATATGGAATGTATATATGTGGAA TGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTAT ATATGTGGAATGTATATATGTGGAATGTATATGTGGAATGTATATATGTG GAATGTATATGTGGAATGTATATATGGAATATATATATATGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	323	0.0031	243	c.-18 others(254): Show c.-1809_-1808insAATGTATATATATGGAATATATATATATGGAATG TATATATATGGAATATATATATGGAATGTATATATGGAATATATATGGAA TGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTAT ATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTG GAATGTATATATGTGGAATGTATATGTGGAATGTATATATGGAATATATA TATATGGAA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1722		chr21	TogoVar
IRF4_chr6_386752_416443	396649	G G	GATGCCAG others(236): Show GATGCCAGTGCTTCTTATCTCAGCCTCTCCGTCTCAATGCCAGTGCTTCT TATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCTT CTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGC TTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCGATGCCAGT GCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0186 a0001c0001t0005g0186	1	460	0.0022	243	c.493 others(258): Show c.493-446_493-445insTTATCTCAGCCTCTCCGTCTCAATGCCAGT GCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCA GTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGC CAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCGAT GCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCA ATGCCAGTGCTTC		IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
ITGAV_chr2_186585056_186685901	186605797	A A	AATATATT others(236): Show AATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGTAT AATACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATAT GTATAATACATATATTCTTATGTATATGTATAATACATATATTCTTATGT ATATGTATAATACATATATTCTTATGTATATGTATAATACATATATTCTT ATGTATATGTATAATACATATATTCTTATGTATATGTATAATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0084 a0001c0001t0002g0085	2	308	0.0065	243	c.316 others(260): Show c.316+3750_316+3751insATACATATATTCTTATGTATATGTATAA TACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGT ATAATACATATATTCTTATGTATATGTATAATACATATATTCTTATGTAT ATGTATAATACATATATTCTTATGTATATGTATAATACATATATTCTTAT GTATATGTATAATACATATATTCTTATGTATATGTATAATACATATATTC TTATGTATATGTATA		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(236): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGA GGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 HG02280.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0168 a0002c0002t0002g0018 a0002c0002t0002g0168	2	270	0.0074	243	c.178 others(259): Show c.1785+99_1785+100insCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45208291	T T	TATGAGCT others(236): Show TATGAGCTGTGAGAACAGGCAGAACCACCGACTCCACACGCAGGAGCTGT GAGAACAGGCAGAACCACCGACTCCACACACACGAGCTGTGAGAACAGGC AGAACCCGCCAACTCCACACACATGAGCTGTGAGAACAGGCAGAACCCGC CAACTCCACACACACGAGCTGTGAGAACAGGCAGAATCCGCCAACTCCAT ACACACGAGCTGTGAGAACAGGCAGAACCACCGACTCCACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01099.hp2 others(28): Show HG00639.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01256.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG02015.hp2 HG02074.hp2 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03471.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 NA18950.hp1 NA18955.hp2 NA18975.hp2 NA18995.hp2 NA18998.hp1 NA19009.hp2 NA19060.hp2 NA19074.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 others(14): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0067 a0001c0001t0072 a0001c0001t0141 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0157 a0001c0001t0184 a0001c0005t0009 a0001c0005t0156 a0001c0009t0060	a0001c0001t0009g0122 a0001c0001t0009g0141 a0001c0001t0009g0144 others(28): Show a0001c0001t0009g0122 a0001c0001t0009g0141 a0001c0001t0009g0144 a0001c0001t0009g0168 a0001c0001t0009g0170 a0001c0001t0009g0365 a0001c0001t0016g0071 a0001c0001t0016g0073 a0001c0001t0016g0076 a0001c0001t0016g0110 a0001c0001t0016g0111 a0001c0001t0025g0065 a0001c0001t0025g0072 a0001c0001t0025g0086 a0001c0001t0025g0087 a0001c0001t0057g0123 a0001c0001t0057g0185 a0001c0001t0058g0066 a0001c0001t0058g0074 a0001c0001t0060g0186 a0001c0001t0067g0006 a0001c0001t0072g0013 a0001c0001t0141g0135 a0001c0001t0153g0108 a0001c0001t0154g0107 a0001c0001t0155g0120 a0001c0001t0157g0103 a0001c0001t0184g0358 a0001c0005t0009g0143 a0001c0005t0156g0142 a0001c0009t0060g0273	31	398	0.0779	243	c.217 others(260): Show c.217-2380_217-2379insGTGTGTGGAGTCGGTGGTTCTGCCTGTT CTCACAGCTCGTGTGTATGGAGTTGGCGGATTCTGCCTGTTCTCACAGCT CGTGTGTGTGGAGTTGGCGGGTTCTGCCTGTTCTCACAGCTCATGTGTGT GGAGTTGGCGGGTTCTGCCTGTTCTCACAGCTCGTGTGTGTGGAGTCGGT GGTTCTGCCTGTTCTCACAGCTCCTGCGTGTGGAGTCGGTGGTTCTGCCT GTTCTCACAGCTCAT		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	2/9						chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45208359	C C	CGACTCCA others(236): Show CGACTCCACACACACGAGCTGTGAGAACAGGCAGAACCCGCCAACTCCAC ACACATGAGCTGTGAGAACAGACAGAACCCGCCAACTCCACACACATGAG CTGTGAGAACAGGCAGAATCCGCCAACTCCATACACACGAGCTGTGAGAA CAGGCAGAACCACCGACTCCACACACATGAGCTGTGAGAACAGGCAGAAC CACCGACCCCACACGCAGGAGCTGTGAGAACAGGCAGAACCACT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0186 a0001c0001t0186	a0001c0001t0186g0291 a0001c0001t0186g0291	1	398	0.0025	243	c.217 others(260): Show c.217-2448_217-2447insAGTGGTTCTGCCTGTTCTCACAGCTCCT GCGTGTGGGGTCGGTGGTTCTGCCTGTTCTCACAGCTCATGTGTGTGGAG TCGGTGGTTCTGCCTGTTCTCACAGCTCGTGTGTATGGAGTTGGCGGATT CTGCCTGTTCTCACAGCTCATGTGTGTGGAGTTGGCGGGTTCTGTCTGTT CTCACAGCTCATGTGTGTGGAGTTGGCGGGTTCTGCCTGTTCTCACAGCT CGTGTGTGTGGAGTC		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	2/9						chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45208359	C C	CGACTCCA others(236): Show CGACTCCACACACACGAGCTGTGAGAACAGGCAGAACCCGCCAACTCCAC ACACATGAGCTGTGAGAACAGGCAGAACCCGCCAACTCCACACACACGAG CTGTGAGAACAGGCAGAATCCGCCAACTCCATACACACGAGCTGTGAGAA CAGGCAGAACCACCGACTCCACACACATGAGCTGTGAGAACAGGCAGAAC CACCGACCCCACACGCAGGAGCTGTGAGAACAGGCAGAACCACT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp2 NA19043.hp2 others(1): Show HG03453.hp2 HG03579.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0074 a0001c0001t0075 a0001c0001t0038 a0001c0001t0074 a0001c0001t0075	a0001c0001t0038g0178 a0001c0001t0038g0179 a0001c0001t0074g0181 others(1): Show a0001c0001t0038g0178 a0001c0001t0038g0179 a0001c0001t0074g0181 a0001c0001t0075g0324	4	398	0.0101	243	c.217 others(260): Show c.217-2448_217-2447insAGTGGTTCTGCCTGTTCTCACAGCTCCT GCGTGTGGGGTCGGTGGTTCTGCCTGTTCTCACAGCTCATGTGTGTGGAG TCGGTGGTTCTGCCTGTTCTCACAGCTCGTGTGTATGGAGTTGGCGGATT CTGCCTGTTCTCACAGCTCGTGTGTGTGGAGTTGGCGGGTTCTGCCTGTT CTCACAGCTCATGTGTGTGGAGTTGGCGGGTTCTGCCTGTTCTCACAGCT CGTGTGTGTGGAGTC		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	2/9						chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45208359	C C	CGACTCCA others(236): Show CGACTCCACACACACGAGCTGTGAGAACAGGCAGAACCCGCCAACTCCAC ACACATGAGCTGTGAGAACAGGCAGAACCCGCCAACTCCACACACATGAG CTGTGAGAACAGGCAGAATCCGCCAACTCCATACACACGAGCTGTGAGAA CAGGCAGAACCACCGACTCCACACACATGAGCTGTGAGAACAGGCAGAAC CACCGACCCCACACGCAGGAGCTGTGAGAACAGGCAGAACCACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(34): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00673.hp1 HG00733.hp2 HG01255.hp2 HG02004.hp1 HG02071.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG03041.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 NA18948.hp1 NA18949.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18994.hp1 NA19007.hp1 NA19054.hp2 NA19056.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 others(13): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0027 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0163 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0001c0001t0183 a0001c0001t0185	a0001c0001t0010g0101 a0001c0001t0010g0126 a0001c0001t0010g0151 others(34): Show a0001c0001t0010g0101 a0001c0001t0010g0126 a0001c0001t0010g0151 a0001c0001t0010g0154 a0001c0001t0010g0166 a0001c0001t0010g0254 a0001c0001t0010g0314 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0011g0155 a0001c0001t0011g0169 a0001c0001t0011g0187 a0001c0001t0011g0198 a0001c0001t0011g0360 a0001c0001t0026g0088 a0001c0001t0026g0104 a0001c0001t0026g0114 a0001c0001t0026g0237 a0001c0001t0027g0097 a0001c0001t0027g0149 a0001c0001t0027g0160 a0001c0001t0027g0162 a0001c0001t0063g0113 a0001c0001t0063g0356 a0001c0001t0064g0146 a0001c0001t0064g0163 a0001c0001t0065g0132 a0001c0001t0065g0133 a0001c0001t0066g0005 a0001c0001t0163g0391 a0001c0001t0178g0153 a0001c0001t0179g0340 a0001c0001t0180g0171 a0001c0001t0181g0363 a0001c0001t0182g0150 a0001c0001t0183g0145 a0001c0001t0185g0124	37	398	0.0930	243	c.217 others(260): Show c.217-2448_217-2447insAGTGGTTCTGCCTGTTCTCACAGCTCCT GCGTGTGGGGTCGGTGGTTCTGCCTGTTCTCACAGCTCATGTGTGTGGAG TCGGTGGTTCTGCCTGTTCTCACAGCTCGTGTGTATGGAGTTGGCGGATT CTGCCTGTTCTCACAGCTCATGTGTGTGGAGTTGGCGGGTTCTGCCTGTT CTCACAGCTCATGTGTGTGGAGTTGGCGGGTTCTGCCTGTTCTCACAGCT CGTGTGTGTGGAGTC		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	2/9						chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(236): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	308	0.0033	243	c.-25 others(262): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTT CTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(236): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0119 a0001c0001t0040g0119	1	308	0.0033	243	c.-25 others(262): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT CTTCCTCTTCTTCTTCC		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3						chr9	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(236): Show TTATCTATAATATAGATATAGATATTTATATCTATAATATAGATATAGAT ATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATTATAGATATTATCTATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0004 a0004	a0004c0072 a0004c0072	a0004c0072t0001 a0004c0072t0001	a0004c0072t0001g0238 a0004c0072t0001g0238	1	414	0.0024	243	c.480 others(258): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATCTATATCTATATTATAGATATAAATATCTATATC TATATTATAGATA		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(236): Show TTATCTATATTATAGATATAGATATTTATATCTATAATATAGATATAGAT ATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATTATAGATATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(3): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG03017.hp2 HG03927.hp2 NA18612.hp1	a0001 a0002 a0034 a0001 a0002 a0034	a0001c0005 a0001c0009 a0002c0003 others(2): Show a0001c0005 a0001c0009 a0002c0003 a0002c0071 a0034c0122	a0001c0005t0001 a0001c0009t0001 a0002c0003t0001 others(2): Show a0001c0005t0001 a0001c0009t0001 a0002c0003t0001 a0002c0071t0001 a0034c0122t0001	a0001c0005t0001g0155 a0001c0009t0001g0151 a0001c0009t0001g0158 others(3): Show a0001c0005t0001g0155 a0001c0009t0001g0151 a0001c0009t0001g0158 a0002c0003t0001g0169 a0002c0071t0001g0267 a0034c0122t0001g0157	6	414	0.0145	243	c.480 others(258): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATCTATATCTATATTATAGATATAAATATCTATATC TATAATATAGATA		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(236): Show TTATCTATATTATAGATATAGATATTTATATCTATAATATAGATATAGAT ATTTATATCTATAATATAGATATAGATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATTATAGATATTATCTATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18953.hp1 NA18950.hp2 NA18953.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0148 a0001c0009t0001g0149 a0001c0009t0001g0148 a0001c0009t0001g0149	2	414	0.0048	243	c.480 others(258): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATCTATATCTATA TTATAGATATAAATATCTATATCTATATTATAGATATAAATATCTATATC TATAATATAGATA		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGTGGGG others(236): Show TGGTGGGGGTGATGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGATGGTGG GGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATG GTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	186	0.0054	243	c.956 others(260): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCATCACCACCCCC ACCATCACCCCCACC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LHFPL3_chr7_104323603_104913561	104833044	T T	TATAATAG others(236): Show TATAATAGATATATTATATATATATAATATATAATAGATATATTATAGAT ATATTATATATAATAGATATATTATATATATTATATATAATAGATATATT ATATATATATTATATATAATAGATATATTATATATATTATATATAATAGA TATATTATATATAATATATAATAGATATATTATATATATATTATATATAA TAGATATATTATATATATATTATATATAATAGATATATATTATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	86	0.0116	243	c.683 others(262): Show c.683-73143_683-73142insATAATAGATATATTATATATATATAA TATATAATAGATATATTATAGATATATTATATATAATAGATATATTATAT ATATTATATATAATAGATATATTATATATATATTATATATAATAGATATA TTATATATATTATATATAATAGATATATTATATATAATATATAATAGATA TATTATATATATATTATATATAATAGATATATTATATATATATTATATAT AATAGATATATATTATA		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2						chr7	TogoVar
LHPP_chr10_124456823_124619141	124507139	T T	TAGGGAGG others(236): Show TAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGTGGAGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	260	0.0039	243	c.624 others(260): Show c.624+9011_624+9012insAGGGAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTAT TTCAGGTGTGGAGGG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LOC400499_chr16_11367015_11532247	11431581	C C	CTTTTTTT others(236): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCACTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0118 a0118	a0118c0130 a0118c0130	a0118c0130t0002 a0118c0130t0002	a0118c0130t0002g0245 a0118c0130t0002g0245	1	310	0.0032	243	c.540 others(260): Show c.5406-353_5406-352insATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCAGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	37/66						chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(236): Show TGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC ACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTC ATCCCGTCCCCACTGCCACATCCCACCACCACGTCCACACTGCCATGTCC CCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(27): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01496.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02559.hp2 HG03486.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18944.hp2 NA18952.hp2 NA18963.hp2 NA18971.hp1 NA18984.hp2 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0105 others(27): Show a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0002g0225 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0051 a0001c0003t0001g0059 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0095	30	264	0.1136	243	c.180 others(262): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGTGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGTGAGGGGACGTGGC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(236): Show TGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTC ATCCCGTCCCCACTGCCACATCCCACCACCACGTCCACACTGCCATGTCC CCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	264	0.0038	243	c.180 others(262): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGTGAGGGGACGTGGC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(236): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	362	0.0028	243	c.391 others(258): Show c.391+802_391+803insCCATCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCATC ACCACCACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477856	G G	GGGGGAGG others(236): Show GGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGG GGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGGGGGGAG AGGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	163	0.0061	243	c.525 others(260): Show c.525+8625_525+8626insTCCCCCCTCCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCTCTCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCTCTCC CCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCC CTCTCCCCCCTCCCC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
METRNL_chr17_83074609_83100122	83090431	A A	ACACACAC others(236): Show ACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACAC ACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGC CACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCC ACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCC CCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	399	0.0025	243	c.557 others(260): Show c.557-2722_557-2721insGCCCCACACACACACCCCCCGCCCCACA CACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGG TGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCC CCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACA CACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCC CCACACACACACCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT4C_chr12_85950667_86261391	86110254	A A	AATATATA others(236): Show AATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATAT ATAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATA TATATAGTCTATATATATAGACTATATATATATAGACTATATATATAGTC TATATATATATAGTCTATATATATATAGTCTATATATATAGACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01261.hp2 others(6): Show HG00140.hp1 HG00280.hp1 HG01261.hp2 HG03098.hp1 NA18961.hp1 NA18973.hp1 NA18998.hp2 NA19007.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0075 a0001c0001t0106 a0001c0001t0107 others(6): Show a0001c0001t0075 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0112 a0001c0001t0123 a0001c0002t0052	a0001c0001t0075g0080 a0001c0001t0106g0060 a0001c0001t0107g0051 others(6): Show a0001c0001t0075g0080 a0001c0001t0106g0060 a0001c0001t0107g0051 a0001c0001t0108g0054 a0001c0001t0109g0052 a0001c0001t0110g0144 a0001c0001t0112g0071 a0001c0001t0123g0091 a0001c0002t0052g0072	9	186	0.0484	243	c.-56 others(262): Show c.-56-60532_-56-60531insAGTCTATATATATAGACTATATATAT ATAGACTATATATATATAGACTATATATATAGTCTATATATATATAGTCT ATATATATAGACTATATATATATAGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATAGACTATATATATAGACTATATATATAGACTATATATAT ATAGTCTATATATATAT		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4						chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110255	A A	ATATATAT others(236): Show ATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATATA TAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGTCTA TATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATAT ATATAGTCTATATATATATAGACTATATATATATAGACTATATATATAGT CTATATATATATAGTCTATATATATATAGTCTATATATATAGAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0058 a0001c0002t0039g0058	1	186	0.0054	243	c.-56 others(262): Show c.-56-60533_-56-60532insGTCTATATATATAGACTATATATATA TAGACTATATATATATAGACTATATATATAGTCTATATATATATAGTCTA TATATATATAGACTATATATATATAGACTATATATATATAGACTATATAT ATATAGACTATATATATATAGACTATATATATATAGACTATATATATAGA CTATATATATATAGACTATATATATAGACTATATATATAGACTATATATA TATAGTCTATATATATA		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4						chr12	TogoVar
MICAL3_chr22_17782649_18029561	17876712	G G	GGGAGGTT others(236): Show GGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTAT GGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGG TTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGG GAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02630.hp1 HG02809.hp1	a0016 a0016	a0016c0032 a0016c0033 a0016c0032 a0016c0033	a0016c0032t0002 a0016c0033t0012 a0016c0032t0002 a0016c0033t0012	a0016c0032t0002g0105 a0016c0033t0012g0200 a0016c0032t0002g0105 a0016c0033t0012g0200	2	274	0.0073	243	c.224 others(262): Show c.2242-4690_2242-4689insATAACCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCATAACTTCCCTAACCTCCATAA CCTCCATAACTTCCCTAACCTCCATAACCTCCGTAACCTCCCTAACCTTC ATAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAGCTCCC TAACCTCCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876784	G G	GGGAGGTT others(236): Show GGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAG GGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19060.hp1 NA19066.hp2 NA18947.hp1 NA19060.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056	3	274	0.0110	243	c.224 others(262): Show c.2242-4762_2242-4761insATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCA TAACCTCCCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876797	A A	AGTTATGG others(236): Show AGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	274	0.0037	243	c.224 others(262): Show c.2242-4775_2242-4774insCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCA TAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876818	T T	TATGGAGG others(236): Show TATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGA GGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGA GGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0088 a0001c0015t0003g0088	1	274	0.0037	243	c.224 others(262): Show c.2242-4796_2242-4795insCACCTCCATAACCTCCCTCACCTCCA TAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATA ACTTCCCTAACCTCCAT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877009	T T	TGGAGGTG others(236): Show TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAT GGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0088 a0001c0015t0003g0088	1	274	0.0037	243	c.224 others(262): Show c.2242-4987_2242-4986insCTCACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTCACCTCCCTAACCTCC CTAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTCACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877013	G G	GGTTATGG others(236): Show GGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0120 a0002c0003t0002g0120	1	274	0.0037	243	c.224 others(262): Show c.2242-4991_2242-4990insTTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTCACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACT TCCCTAACCTCCATAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877016	T T	TAGGGAGG others(236): Show TAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA AGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0006 a0005c0008t0005g0006	1	274	0.0037	243	c.224 others(262): Show c.2242-4994_2242-4993insCACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACC TCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCAT AATCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTC ACCTCCATAACCTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877025	T T	TAGGGAAG others(236): Show TAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTA TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	274	0.0037	243	c.224 others(262): Show c.2242-5003_2242-5002insCACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCTCCATA ACCTCCATAACTTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877054	G G	GGGAGGTT others(236): Show GGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAT GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGG GAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0005 a0002c0031t0005	a0002c0031t0005g0243 a0002c0031t0005g0243	1	274	0.0037	243	c.224 others(262): Show c.2242-5032_2242-5031insATAACCTCCCTAACCTCCATAACCTC CCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCA TAACTTCCCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar

Search by Variant

Search

Search Results