Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF4G3_chr1_20801479_21181897	21180071	T T	TATATATA others(212): Show TATATATAATATATATATTATATATATATTATGTATAATATATATATAAT ATATTATACATAATGTATAATATATATATAATATATTATACATAATGTAT AATATATATATAATATATTATACATAATGTATAATATATATATAATATAT TATACATAATATATAATATATATTACGTAATATATTACATATATATAATA TATATTACGTAATATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	312	0.0032	219	c.-38 others(230): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATATGT AATATATTACGTAATATATATTATATATTATGTATAATATATTATATATA TATTATACATTATGTATAATATATTATATATATATTATACATTATGTATA ATATATTATATATATATTATACATTATGTATAATATATTATATATATATT ATACATAATATATATATAATATATATATTATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
ELL_chr19_18437663_18527070	18442176	C C	CCACACCC others(212): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACCCACCCCAACACACACCACACACCCCAC ACTGCACACCCCAACACACCACACCCTCACACCACACACCAACACACACC ACACCCACACCACACATAAACCACACCCACACCCAACACACATACCACAT CCACACATCCCAACACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02257.hp2 HG02896.hp2 others(2): Show HG01346.hp2 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0140 others(2): Show a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0140 a0002c0002t0001g0241 a0002c0002t0008g0119	5	244	0.0205	219	c.25 others(230): Show c.2575_*2576insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTG TGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGTGGT GTGTGTTGGGGTGGGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGG GTGTGTGGTGTGGGTGTGGTATGTGTTAGGGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		486		chr19	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(212): Show CCCGGCCCCTCCCCCGCCCCGCCCCTCCCCCGCCCCGCCCCGGCCCCTCC GCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCC CCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCC CGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCC CTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0077 a0001c0014t0001g0077	1	378	0.0027	219	c.304 others(236): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGGGG AGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGC CGGGGCGGGGCGGGGGAGGGGCGGGGCGGGGGAGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700479	G G	GGCGCACA others(212): Show GGCGCACAGACCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCG CACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGG CCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACACGCGCA CAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACACG CGCACGGGCCTGTGGCACAC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0342 a0001c0002t0002g0342	1	378	0.0027	219	c.170 others(236): Show c.170-7868_170-7867insGTGTGCCACAGGCCCGTGCGCGTGTGCG GGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTG TGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCG CGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTG TGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
EVA1C_chr21_32407706_32520387	32477700	A A	ACCTCCCC others(212): Show ACCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCC CCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTC ACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCC CCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTC CCCTCCCCCGTACGCCCTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	346	0.0029	219	c.634 others(236): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCAC CTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477799	C C	CACCTCCC others(212): Show CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCT CCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCC CCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTAC GCCCTCCCCTCCCCCGTACG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(36): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01109.hp1 HG01175.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02922.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG03704.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18959.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0002c0008t0005	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0049 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0254 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0094 a0001c0002t0001g0105 a0001c0002t0001g0117 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0013t0001g0104 a0001c0013t0001g0150 a0002c0008t0005g0116	39	346	0.1127	219	c.634 others(236): Show c.634+9951_634+9952insACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCC CTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7			chr21	TogoVar
FAM135A_chr6_70408508_70566174	70433559	T T	TCTTTTTT others(212): Show TCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTGATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG00741.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0173 a0001c0002t0002g0174	2	268	0.0075	219	c.77+ others(234): Show c.77+5144_77+5145insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTGATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM13A_chr4_88720960_89062185	89042101	C C	CAAGGTGA others(212): Show CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0008 a0002c0004t0010g0008	1	208	0.0048	219	c.28- others(236): Show c.28-12453_28-12452insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	1/23			chr4	TogoVar
FGFR4_chr5_177081915_177103144	177096956	C C	CTCCTCTT others(212): Show CTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCT CCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTCC TCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0190 a0003c0004t0001g0190	1	372	0.0027	219	c.215 others(236): Show c.2153+220_2153+221insTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTT CCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317079	C C	CCCCTCCC others(212): Show CCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTC CCGCCTCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCC CCCCTCCAGCCTACCCCTCCCCCCACCCATTCCCTCCTCCAGCCTACCCC TCCCCCCACCCATCCCTCCTCCCTCCCCCCTCCAGCCTACCCCCTCCAGC CTACCCCTCCCCCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	406	0.0025	219	c.31 others(230): Show c.3163_*3164insCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCC GCCCACCCCCTCCTCCCGCCTCCCCCCAGCCTACCCCCTCCCCCCGCCCA CCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCATTCCCT CCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCTCCCCCCTCCAG CCTACCCCCTCCAGCCTACCCCTCCCCCCACCCAT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2322		chr6	TogoVar
FTCD_chr21_46131779_46160579	46142292	C C	CGCGTCGG others(212): Show CGCGTCGGGAGCTGTTTCTTCCTCCCCATGAGGCCGCCGACCTTCACAGT GAGCGTTAAGCTCTTACAGGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCC GTGAGGCCGCCGACCTTCACAGTGAGCCATAAGCTCTTACAGGTGGCGCG TCGGGAGCTGTTTCTTCCTCCCGGTGAGGCCGCCGACCTTCACAGTGAGC GTTAAGCTCTTACAGGTGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02897.hp1 HG02965.hp2 HG02257.hp2 HG02897.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0126 a0001c0001t0006g0171 a0001c0001t0006g0124 a0001c0001t0006g0126 a0001c0001t0006g0171	3	230	0.0130	219	c.126 others(238): Show c.1260+3124_1260+3125insATCACCTGTAAGAGCTTAACGCTCAC TGTGAAGGTCGGCGGCCTCACCGGGAGGAAGAAACAGCTCCCGACGCGCC ACCTGTAAGAGCTTATGGCTCACTGTGAAGGTCGGCGGCCTCACGGGGAG GAAGAAACAGCTCCCGACGCGCCACCTGTAAGAGCTTAACGCTCACTGTG AAGGTCGGCGGCCTCATGGGGAGGAAGAAACAGCTCCCGACGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46142347	A A	ATAAGCTC others(212): Show ATAAGCTCTTACAGGTGATGCGTCGGGAGCTGTTTCTTCCTCCCGGTGAG GCCGCAGACCTTCACAGTGAGCCATAAGCTCTTACAGGTGGCGCGTCGGG AGCTGTTTCTTCCTCCCCGTGAGGCCGCCGACCTTCACAGTGAGCCATAA GCTCTTACAGGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCCGTGAGGCCG CCGACCTTCACAGTGAGCGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG00733.hp2 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0161 a0001c0002t0002g0162	2	230	0.0087	219	c.126 others(238): Show c.1260+3069_1260+3070insACGCTCACTGTGAAGGTCGGCGGCCT CACGGGGAGGAAGAAACAGCTCCCGACGCGCCACCTGTAAGAGCTTATGG CTCACTGTGAAGGTCGGCGGCCTCACGGGGAGGAAGAAACAGCTCCCGAC GCGCCACCTGTAAGAGCTTATGGCTCACTGTGAAGGTCTGCGGCCTCACC GGGAGGAAGAAACAGCTCCCGACGCATCACCTGTAAGAGCTTA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GABRR2_chr6_89249464_89320299	89292413	G G	GATATATA others(212): Show GATATATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG ATATATATATCAGATATATATCGTATCTCTGATATATATATCAGATATAT ATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTGATATATA TATCAGATATATATCGTATCTCTGATATATATATCAGATATATATCGTAT CTCTGATATATATATCAGAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0236 a0002c0003t0002g0236	1	366	0.0027	219	c.220 others(236): Show c.220+7345_220+7346insATCTGATATATATATCAGAGATACGATA TATATCTGATATATATATCAGAGATACGATATATATCTGATATATATATC AGAGATACGATATATATCTGATATATATATCAGAGATACGATATATATCT GATATATATATCAGAGATACGATATATATCTGATATATATATCAGAGATA CGATATATATCTGATATATATATCAGAGATACGATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806988	A A	ACTCTCCC others(212): Show ACTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	314	0.0032	219	c.28 others(230): Show c.2822_*2823insCTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2702		chr2	TogoVar
GALNT8_chr12_4715400_4777726	4734671	T T	TTAAAATG others(212): Show TTAAAATGTTAATTTGGTTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATAAATAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	338	0.0030	219	c.510 others(236): Show c.510-4475_510-4474insTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATAAATAAATAAAATGTTAATTTGGT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4734671	T T	TTAAAATG others(212): Show TTAAAATGTTAATTTGGTTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA TAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0029 a0009c0009t0002g0029	1	338	0.0030	219	c.510 others(236): Show c.510-4475_510-4474insTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAATAAATAAATAAATAAATAAATAAAATGTTAATTTGGT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT9_chr12_132191372_132334589	132282204	A A	AGGAGGAA others(212): Show AGGAGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGATCCCCGATCC CACAGAGGAGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGGTCCC ACATCCCACAGAGGGGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGG GACCCACATCCCACAGAGGAGGAATCAGCTCCACTACAGCAAGGCCAGGC CTGGGGGTCCCACATCCCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	183	0.0055	219	c.419 others(236): Show c.419+4045_419+4046insGTGGGATGTGGGACCCCCAGGCCTGGCC TTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGATGTGGGTCCCCAGGCC TGGCCTTGCTGTAGTGGAGCTGATTCCCCCTCTGTGGGATGTGGGACCCC CAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGATCGGG GATCCCAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCCTCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77252899	C C	CCACCACC others(212): Show CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0222 a0002c0003t0020g0222	1	366	0.0027	219	c.666 others(236): Show c.666+1702_666+1703insTCACCACCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCATCACCACCATCACCACCATCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77258602	C C	CATGGTGG others(212): Show CATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGTGGTG ATGGTGATGGTGGTGGGTGGTGATGGTGGTGGTGGTCATGTGGTGGTGGT GGTGATGATGGCCATGGTGGTGATGGTAGTGATGGTGGTGATGATGGTGG TGATGATGGTCATGGTGGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0153 a0001c0001t0097g0153	1	366	0.0027	219	c.732 others(236): Show c.732+2426_732+2427insGATGGTGGTGATGGTGGTGGTCATAGTG GTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTGGGTGGTGATGG TGGTGGTGGTCATGTGGTGGTGGTGGTGATGATGGCCATGGTGGTGATGG TAGTGATGGTGGTGATGATGGTGGTGATGATGGTCATGGTGGTGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPIHBP1_chr8_143208218_143222170	143218085	C C	CCCCCACA others(212): Show CCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCC AACACCACCCCCAACACCACCCAACACCACCCCCAACACCACCCAACACC ACCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CAACACCACCCCCAACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0009 a0001c0004t0003g0009	1	106	0.0094	219	c.25 others(230): Show c.2567_*2568insCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCCAACACCATCCCCAACACCACCCCCAACACCACCCAACACCACCCCCA ACACCACCCAACACCACCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCAACACCACCCCCAACACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		916		chr8	TogoVar
GPR155_chr2_174426571_174492029	174454804	G G	GAAGGGAA others(212): Show GAAGGGAAGGAAGGGAAAGGAAGGAAAGGGAAGGAAAGGGAAGGAAGGGA AGGAAGGGAAGGAAGGGAAGGGAAGGAAAAGAAAGGAAGGAAAAGGAAGG AAGGGAAGGAAGGGAAAGGAAGGAAGGAAAAGGAAGGAAGGGAGAGGAAG GAAGGGAAAGGAAGGAAAGGGAAGGAAAGGGAAGGAAGGGAAGGGAAGGA AGGGAAAGGAAGGAAAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02723.hp2 others(4): Show HG01891.hp1 HG02257.hp1 HG02723.hp2 HG03098.hp2 HG03471.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0015 a0001c0004t0038 a0001c0004t0039 others(2): Show a0001c0004t0015 a0001c0004t0038 a0001c0004t0039 a0001c0004t0061 a0001c0016t0015	a0001c0004t0015g0145 a0001c0004t0015g0187 a0001c0004t0015g0264 others(4): Show a0001c0004t0015g0145 a0001c0004t0015g0187 a0001c0004t0015g0264 a0001c0004t0038g0259 a0001c0004t0039g0186 a0001c0004t0061g0255 a0001c0016t0015g0068	7	300	0.0233	219	c.177 others(236): Show c.1772-964_1772-963insTCCCTTTCCTTCCTTTCCCTTCCTTCCC TTCCCTTCCTTCCCTTTCCTTCCCTTTCCTTCCTTTCCCTTCCTTCCTCT CCCTTCCTTCCTTTTCCTTCCTTCCTTTCCCTTCCTTCCCTTCCTTCCTT TTCCTTCCTTTCTTTTCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCC TTCCCTTTCCTTCCCTTTCCTTCCTTTCCCTTCCTTCCCTT	GPR155	ENSG00000163328.14	transcript	ENST00000392552.7	protein_coding	10/15			chr2	TogoVar
GPR157_chr1_9095305_9134102	9116309	T T	TATAATTA others(212): Show TATAATTATATTATATATTATATGTAATATAAATATATATAATTATATTA TATATATTATATGTAATATAATTATATATATTTATATTATATATTATATA TAATATAATTATATATATAATTATAATATATATTATATATAATATAATTA TATATATAATTTATATATATTATATATAATATAATTATATATATAATATA TATATAATTATATAATTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0197 a0001c0001t0007g0197	1	404	0.0025	219	c.384 others(236): Show c.384-4821_384-4820insTATAATTATATAATTATATATATATTAT ATATATAATTATATTATATATAATATATATAAATTATATATATAATTATA TTATATATAATATATATTATAATTATATATATAATTATATTATATATAAT ATATAATATAAATATATATAATTATATTACATATAATATATATAATATAA TTATATATATTTATATTACATATAATATATAATATAATTAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GTPBP6_chrX_299759_323796	323703	T T	TGTGTGTG others(212): Show TGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCT GTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGG GCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGACAGAATGAGGGCGTCCC CAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0005 a0011c0031t0005	a0011c0031t0005g0104 a0011c0031t0005g0104	1	155	0.0065	219	c.-49 others(230): Show c.-4917_-4916insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACACACACACACACACACCGTCCCTGAGCTC ACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAAC CCAGGAGCCCAGGAGATTGACGGCTACACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4908		chrX	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(212): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTCATATATAC ATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACAT GTTATATTACATGTATATATACATGTTATATTACATGTATATATACATGT TATATTACATGTATATATACATGTTATATTACATGTATATATACATGTTA TATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03579.hp1 HG02965.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0160 a0001c0013t0001g0069 a0001c0001t0001g0160 a0001c0013t0001g0069	2	344	0.0058	219	c.31 others(230): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTCATATATACATGTTATATTACATGTATATATACATGTTATATTA CATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACA TGTATATATACATGTTATATTACATGTATATATACATGTTATATTACATG TATATATACATGTTATATTACATGTATATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
HPCAL1_chr2_10297904_10432604	10399271	C C	CCACCATC others(212): Show CCACCATCACCACCACCATCACCATCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCATCACCACCATCACCACCACCATCACCAC CACCATCACCATCACCACCACCATCACCATCACCACCACCACCACCATCA CCACCACCATCACCATCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19083.hp2 NA18947.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0216 a0001c0001t0001g0222	2	314	0.0064	219	c.-25 others(236): Show c.-25+2356_-25+2357insTCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCACCATCACCATCACCACCACCATCACCATCACC ACCACCACCACCATCACCACCACCATCACCATCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCATCACCATCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HTR2C_chrX_114579086_114915061	114807196	A A	ATATACAC others(212): Show ATATACACCATGTATATATACACCATATATACACCATGTATATATACACC ATATATACACCATGTATATATACACCATATATACACCATGTATATATACA CCATATATACACCATGTATATATACACCATATATACACCATGTATATATA CACCATATATACACCATGTATATATACACCATATATACACCATGTATATA TACACCATATATATACCATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	176	0.0057	219	c.350 others(238): Show c.350-40803_350-40802insCACCATGTATATATACACCATATATA CACCATGTATATATACACCATATATACACCATGTATATATACACCATATA TACACCATGTATATATACACCATATATACACCATGTATATATACACCATA TATACACCATGTATATATACACCATATATACACCATGTATATATACACCA TATATACACCATGTATATATACACCATATATATACCATGTATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
ICA1_chr7_8108184_8267167	8152561	C C	CACCACCA others(212): Show CACCACCACCACCACCATCTCCTCCACCACCACTACCACCACCACCATTA TCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTT CACCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0175 a0001c0001t0008g0175	1	274	0.0037	219	c.804 others(236): Show c.804+4554_804+4555insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTG GTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTGGTGGTGGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322332	A A	AATATATA others(212): Show AATATATATATGCAATATATATATATGGAATATATATATGCAATATATAT ATATGGAATATATATATGCAGTATATATATATGAATATATATATGGAATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATGTGGAATATATATATGGAATATATATATATGT GGAATATATATATGGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	323	0.0031	219	c.-27 others(230): Show c.-2724_-2723insATATATATATGCAATATATATATATGGAATATAT ATATGCAATATATATATATGGAATATATATATGCAGTATATATATATGAA TATATATATGGAATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATGTGGAATATATATATGG AATATATATATATGTGGAATATATATATGGAATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2637		chr21	TogoVar
IGF2R_chr6_159964082_160116504	160071295	C C	CGAGGCCC others(212): Show CGAGGCCCCTGTGCCCCAGACCCAGGAGGCTGGGAGGGAAGGGTGGGGGT GTGTCGAGGCCCCTGTGCCCAGGGCCCGGTAGGCTGGGAGGGAAGGGTCG GGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCCGGTAGGCTGGGAGGGAAG GGTCGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCTGGGAGGCTGGGAG GGAAGGGTCGGGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp1 HG01496.hp1 others(1): Show HG01258.hp2 HG01358.hp1 HG01496.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0212 a0002c0003t0001g0218 a0002c0003t0001g0001 a0002c0003t0001g0212 a0002c0003t0001g0218	4	310	0.0129	219	c.444 others(236): Show c.4444-600_4444-599insCAGACCCAGGAGGCTGGGAGGGAAGGGT GGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCCGGTAGGCTGGGAGGGAA GGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCCGGTAGGCTGGGA GGGAAGGGTCGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCTGGGAGGC TGGGAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCC	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IHO1_chr3_49194498_49263106	49200471	A A	AGAAAGAA others(212): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	196	0.0051	219	c.-16 others(234): Show c.-16+898_-16+899insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7			chr3	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATACTAT others(212): Show TATACTATATTTTTTATATATTATATATTATATATAATATATAATATAAT ATGTATTTTATATATTATATTATATAAAATATAGTATATTATATATAATA TAATAAATAATATAATATATAATATAATATAATAAATAATATAATATATA ATATAATATATAATAATAATATAATATAAATATATAATATAATATATAAT ATAATATATAATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0020 a0003c0005t0020	a0003c0005t0020g0045 a0003c0005t0020g0045	1	366	0.0027	219	c.-36 others(230): Show c.-3661_-3660insATACTATATTTTTTATATATTATATATTATATAT AATATATAATATAATATGTATTTTATATATTATATTATATAAAATATAGT ATATTATATATAATATAATAAATAATATAATATATAATATAATATAATAA ATAATATAATATATAATATAATATATAATAATAATATAATATAAATATAT AATATAATATATAATATAATATATAATATATAATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATACTAT others(212): Show TATACTATATTTTTTATATATTATATATTATATATAATATATAATATAAT ATGTATTTTATATATTATATTATATAAAATATAGTATATTATATATAATA TAATAAATAATATAATATATAATATAATATAATAAATAATATAATATATA ATATAATATATAATAATAATATAATATAAATATATAATATAATATATAAT ATAATATATAATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0004 a0015c0016t0004	a0015c0016t0004g0122 a0015c0016t0004g0122	1	348	0.0029	219	c.84 others(228): Show c.847_*848insATACTATATTTTTTATATATTATATATTATATATAA TATATAATATAATATGTATTTTATATATTATATTATATAAAATATAGTAT ATTATATATAATATAATAAATAATATAATATATAATATAATATAATAAAT AATATAATATATAATATAATATATAATAATAATATAATATAAATATATAA TATAATATATAATATAATATATAATATATAATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
INCENP_chr11_62119011_62158169	62143052	G G	GCCCACAC others(212): Show GCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGC TTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACA CAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGA CTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAG AGCAACACACAGGGTTTGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01070.hp2 others(29): Show HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01515.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02300.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG04184.hp1 NA19240.hp2	a0001 a0011 a0012 others(2): Show a0001 a0011 a0012 a0014 a0017	a0001c0001 a0001c0006 a0001c0010 others(6): Show a0001c0001 a0001c0006 a0001c0010 a0001c0025 a0011c0016 a0012c0014 a0014c0035 a0014c0045 a0017c0023	a0001c0001t0001 a0001c0006t0001 a0001c0010t0001 others(7): Show a0001c0001t0001 a0001c0006t0001 a0001c0010t0001 a0001c0010t0005 a0001c0025t0001 a0011c0016t0005 a0012c0014t0001 a0014c0035t0009 a0014c0045t0005 a0017c0023t0001	a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0097 others(17): Show a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0006t0001g0005 a0001c0010t0001g0056 a0001c0010t0001g0057 a0001c0010t0001g0058 a0001c0010t0005g0026 a0001c0010t0005g0055 a0001c0025t0001g0077 a0011c0016t0005g0024 a0011c0016t0005g0054 a0012c0014t0001g0049 a0014c0035t0009g0183 a0014c0045t0005g0059 a0017c0023t0001g0005	32	358	0.0894	219	c.160 others(238): Show c.1605+1543_1605+1544insCACACTTTTGGGATCACAGCTCCTCC TCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGG GACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCAC AGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCC TGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCC	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62143052	G G	GCCCACAC others(212): Show GCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGC TTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACGGAAGAGCAACACA CAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGA CTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAG AGCAACACACAGGGTTTGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(86): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18993.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA20905.hp1	a0001 a0010 a0013 others(2): Show a0001 a0010 a0013 a0016 a0020	a0001c0001 a0001c0007 a0001c0008 others(6): Show a0001c0001 a0001c0007 a0001c0008 a0001c0024 a0001c0026 a0010c0015 a0013c0028 a0016c0017 a0020c0036	a0001c0001t0001 a0001c0007t0001 a0001c0007t0006 others(7): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0024t0001 a0001c0026t0001 a0010c0015t0001 a0013c0028t0001 a0016c0017t0001 a0020c0036t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0007t0001g0002 a0001c0007t0001g0016 a0001c0007t0001g0040 a0001c0007t0006g0002 a0001c0007t0006g0118 a0001c0008t0001g0068 a0001c0008t0001g0102 a0001c0024t0001g0053 a0001c0026t0001g0128 a0010c0015t0001g0155 a0013c0028t0001g0150 a0016c0017t0001g0020 a0020c0036t0001g0181	89	358	0.2486	219	c.160 others(238): Show c.1605+1543_1605+1544insCACACTTTTGGGATCACAGCTCCTCC TCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGG GACAGACGGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCAC AGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCC TGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCC	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62143052	G G	GCCCACAC others(212): Show GCCCACACTTTTGGGATCACAGTTCCTCCTCTGAGTTTTGACTTGGCAGC TTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACGGAAGAGCAACACA CAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGA CTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAG AGCAACACACAGGGTTTGGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02735.hp2 HG02683.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	358	0.0056	219	c.160 others(238): Show c.1605+1543_1605+1544insCACACTTTTGGGATCACAGTTCCTCC TCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGG GACAGACGGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCAC AGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCC TGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCC	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(212): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	330	0.0030	219	c.267 others(238): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ISYNA1_chr19_18429388_18443133	18442176	C C	CCACACCC others(212): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACCCACCCCAACACACACCACACACCCCAC ACTGCACACCCCAACACACCACACCCTCACACCACACACCAACACACACC ACACCCACACCACACATAAACCACACCCACACCCAACACACATACCACAT CCACACATCCCAACACACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	308	0.0033	219	c.-40 others(230): Show c.-4094_-4093insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTG TGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGTGGT GTGTGTTGGGGTGGGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGG GTGTGTGGTGTGGGTGTGGTATGTGTTAGGGTGTG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4044		chr19	TogoVar
JAM3_chr11_134064072_134157001	134137637	A A	ATAGTCCC others(212): Show ATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCGTGGTGCTCAT ACTGAGAGAAATGTTTATAGCCAATAGTCCCTTAGAGCCAGTGGTGGCGT CTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAG TCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCATACTG AGAGAAATGTTTATGGCCAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0350 a0001c0001t0060g0350	1	390	0.0026	219	c.77- others(234): Show c.77-2147_77-2146insAGCCAATAGTCCCTTAGAGCCAGTGGTGGC GTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAAT AGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCATAC TGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGTGTCT CGTCTAAGTCGTGGTGCTCATACTGAGAGAAATGTTTAT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134137822	G G	GTGGTGCT others(212): Show GTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCC AGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTT ATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGG TGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTG GTGGTGTCTCGTCTAAGTCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG06807.hp2 HG02723.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0039 a0001c0001t0024 a0001c0001t0039	a0001c0001t0024g0254 a0001c0001t0039g0253 a0001c0001t0024g0254 a0001c0001t0039g0253	2	390	0.0051	219	c.77- others(234): Show c.77-1996_77-1995insATAGTCCCTTAGAGCCAGTGGTGGCGTCTC GTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCC CTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGA GAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCT AAGTCATGGTGCTCATACTGAGAGAAATGTTTATGGCCA	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134137929	A A	ATAGTCCC others(212): Show ATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCAT ACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGT CTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAG TCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCCTACTG AGAGAAATGTTTATGGCCAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp1 HG02071.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0347 a0001c0001t0003g0344 a0001c0001t0003g0347	2	390	0.0051	219	c.77- others(234): Show c.77-1835_77-1834insCAGTGGTGGCGTCTCGTCAAAGTCGTGGTG CTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGT GGTGTCTCGTCTAAGTCATGGTGCTCCTACTGAGAGAAATGTTTATGGCC AGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCA TACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KAT2B_chr3_20035446_20159404	20061984	C C	CATAATAT others(212): Show CATAATATATATTATATATAAAACATATAATATATAAAACATATAATATA TATTATATATAAAACATAATATATATTATATAAAACATATAATATATATT ATATATAAAACATATAATATATATTATATATAAAACATATAATATATATT ATATATAAAACATATAATATATATTATATATAAAACATATAATATATATT ATATATAAAACATATAATAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	374	0.0027	219	c.304 others(238): Show c.304-10346_304-10345insATATATATTATATATAAAACATATAA TATATAAAACATATAATATATATTATATATAAAACATAATATATATTATA TAAAACATATAATATATATTATATATAAAACATATAATATATATTATATA TAAAACATATAATATATATTATATATAAAACATATAATATATATTATATA TAAAACATATAATATATATTATATATAAAACATATAATATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNIP_chr16_27545144_27785344	27713728	T T	TATATATA others(212): Show TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATTATATATATGTGTGTGTATATATATACACATACATATTATATAT ATGTGTATATATATACACATACATATTATATATATGTGTGTGTATATATA TACACACACATATTATATATATGTGTGTGTATATATATACACATACATAT TATATATATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp2 HG02135.hp1 others(7): Show HG00408.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp2 NA18954.hp1 NA18971.hp1 NA18986.hp2 NA18995.hp2 NA19080.hp2 NA19084.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0024 a0002c0002 a0011c0013 a0001c0024 a0002c0002 a0011c0013	a0001c0024t0001 a0002c0002t0003 a0011c0013t0003 a0001c0024t0001 a0002c0002t0003 a0011c0013t0003	a0001c0024t0001g0078 a0002c0002t0003g0062 a0002c0002t0003g0063 others(7): Show a0001c0024t0001g0078 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0068 a0002c0002t0003g0097 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0110 a0011c0013t0003g0061	10	152	0.0658	219	c.160 others(238): Show c.1605+4808_1605+4809insATATATACACATACATATTATATATA TGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATAT ATATACACATACATATTATATATATGTGTATATATATACACATACATATT ATATATATGTGTGTGTATATATATACACACACATATTATATATATGTGTG TGTATATATATACACATACATATTATATATATGTGTGTGTATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KCNJ6_chr21_37602373_37921457	37757150	A A	AGCGTGAT others(212): Show AGCGTGATGATTCCAGCCTGGAGTGAGCACTCCCTCACAGCATGATGGTT CCAGCCCAAGTGAGCACTCCCTCACAGATTCCAGCCCGGAGTGAGCACTC CCTCACAGCATGATGGTTCCAGCCCAAGTGAGCACTCCCTCACAGATTCC AGCCCGGAGTGAGCACTCCCTCACAGTGTGATGATTCCAGCCCAGAGTGA GCACTCCCTCACAGCGTGAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02717.hp2 HG02071.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0153 a0001c0001t0024 a0001c0002t0153	a0001c0001t0024g0083 a0001c0002t0153g0096 a0001c0001t0024g0083 a0001c0002t0153g0096	2	198	0.0101	219	c.26- others(236): Show c.26-42020_26-42019insATCACGCTGTGAGGGAGTGCTCACTCTG GGCTGGAATCATCACACTGTGAGGGAGTGCTCACTCCGGGCTGGAATCTG TGAGGGAGTGCTCACTTGGGCTGGAACCATCATGCTGTGAGGGAGTGCTC ACTCCGGGCTGGAATCTGTGAGGGAGTGCTCACTTGGGCTGGAACCATCA TGCTGTGAGGGAGTGCTCACTCCAGGCTGGAATCATCACGC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TCACCACC others(212): Show TCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCATTATCACCACCACCATC ACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02056.hp1 HG04184.hp1 HG01943.hp2 HG02056.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0034 a0001c0002t0078 a0002c0001t0001 a0001c0002t0034 a0001c0002t0078 a0002c0001t0001	a0001c0002t0034g0256 a0001c0002t0078g0246 a0002c0001t0001g0153 a0001c0002t0034g0256 a0001c0002t0078g0246 a0002c0001t0001g0153	3	330	0.0091	219	c.691 others(234): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGGTG GTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTG ATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442899	T T	TCACCACC others(212): Show TCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACC ACCATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCAT CACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCA CCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATCACC ATTATCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0286 a0001c0003t0003g0286	1	330	0.0030	219	c.691 others(234): Show c.691-369_691-368insGTGATGGTGGTGGTGATAATGGTGATGGTG ATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGATGGTGGTGG TGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATA ATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(212): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGG AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19240.hp1 HG01891.hp1 NA19240.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0257 a0002c0014t0003g0258 a0002c0014t0003g0257 a0002c0014t0003g0258	2	270	0.0074	219	c.178 others(234): Show c.1785+44_1785+45insCACAGGGGAGCTGGTGGCGGGGGAGGGGGG CAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTG GGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(212): Show GGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGG GGGAGGGGGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0118 a0001c0006t0006g0118	1	270	0.0037	219	c.178 others(234): Show c.1785+44_1785+45insCACAGGGGAGCTGGTGGCGGGGGAGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228892	T T	TCCCCCCC others(212): Show TCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCA CTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGAT CCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCCCCATCCCC CCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCACTCAC CCGAAAGATCCCTCCCCATC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	398	0.0025	219	c.64+ others(236): Show c.64+11747_64+11748insGATGGGGAGGGATCTTTCGGGTGAGTGG TGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGG GGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCG GGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTG TGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(212): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	308	0.0033	219	c.-25 others(238): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTCCTT others(212): Show TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03225.hp2 HG01258.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0197 a0001c0001t0001g0220	2	308	0.0065	219	c.-25 others(238): Show c.-25+38849_-25+38850insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar

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