Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PHIP_chr6_78929419_79083254	79014067	T T	TTACAAAC others(216): Show TTACAAACCTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0265 a0001c0006t0002g0265	1	318	0.0031	223	c.152 others(242): Show c.1524+1014_1524+1015insCGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAGGTTTGTA	PHIP	ENSG00000146247.15	transcript	ENST00000275034.5	protein_coding	15/39			chr6	TogoVar
PIGZ_chr3_196941356_196973833	196948870	T T	TCCTTCCT others(216): Show TCCTTCCTTCCCCTTCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTCCC TTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTCCCCTCCCCT CCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTT CCTTCCCTTCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCT TCCCTTCCTTCCTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02630.hp1 others(1): Show HG01891.hp1 HG02451.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0023 a0001c0001 a0001c0004 a0001c0023	a0001c0001t0001 a0001c0004t0001 a0001c0023t0001 a0001c0001t0001 a0001c0004t0001 a0001c0023t0001	a0001c0001t0001g0328 a0001c0004t0001g0061 a0001c0004t0001g0337 others(1): Show a0001c0001t0001g0328 a0001c0004t0001g0061 a0001c0004t0001g0337 a0001c0023t0001g0329	4	424	0.0094	223	c.212 others(238): Show c.212-186_212-185insGAAGGAAGGGAAGGAAGGAAGGGAAGGAAG GGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGA AGGAAGGGAAGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGAGGGGA GGGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAGG GAGGGGAGGGGAAGGGAAGGAAGGGAAGGAAGGGGAAGGAAGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(216): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0004 a0004	a0004c0046 a0004c0046	a0004c0046t0002 a0004c0046t0002	a0004c0046t0002g0050 a0004c0046t0002g0050	1	134	0.0075	223	c.575 others(244): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTAC CGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLEKHN1_chr1_961482_980865	977273	T T	TCCCGCTC others(216): Show TCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAAC CCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGC TCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGG AACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCC CGCCAACCCCGGGAACCGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0015 a0001c0009t0010g0015	1	422	0.0024	223	c.26 others(234): Show c.2698_*2699insCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCC CGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCG GGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCC CCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACC GCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1409		chr1	TogoVar
PPP6R2_chr22_50338327_50450090	50344282	C C	CCCCCTTC others(216): Show CCCCCTTCAGTCAGTTCCCCCAGTCAGTGCCCCCCTCCAGTCAGTTCCCC CCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGT CAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTT TCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCC AGTCAGTGCCCCCTCCAGTCAGTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0103 a0003c0006t0002g0103	1	340	0.0029	223	c.-14 others(240): Show c.-148+736_-148+737insTTCAGTCAGTTCCCCCAGTCAGTGCCCC CCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCC AGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAG TGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCC CTCCAGTCAATTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344282	C C	CCCCCTTC others(216): Show CCCCCTTCAGTCAGTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCC CCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTC AGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTT CCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCC AGTCAGTGCCCCCTCCAGTCAGTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp2 HG02074.hp2 others(26): Show HG00408.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02622.hp1 HG02970.hp2 HG03491.hp2 HG03927.hp2 HG04115.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18971.hp2 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19012.hp2 NA19060.hp1 NA19074.hp1 NA19088.hp2 NA19091.hp1 NA20805.hp2	a0001 a0003 a0016 others(1): Show a0001 a0003 a0016 a0017	a0001c0001 a0001c0002 a0003c0006 others(2): Show a0001c0001 a0001c0002 a0003c0006 a0016c0025 a0017c0024	a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 others(7): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0037 a0001c0002t0014 a0003c0006t0002 a0003c0006t0007 a0003c0006t0009 a0016c0025t0006 a0017c0024t0007	a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 others(26): Show a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0007g0047 a0001c0001t0014g0048 a0001c0001t0014g0049 a0001c0001t0037g0062 a0001c0002t0014g0055 a0001c0002t0014g0064 a0003c0006t0002g0080 a0003c0006t0002g0104 a0003c0006t0002g0107 a0003c0006t0007g0111 a0003c0006t0009g0105 a0003c0006t0009g0106 a0003c0006t0009g0108 a0003c0006t0009g0109 a0003c0006t0009g0110 a0016c0025t0006g0066 a0017c0024t0007g0050	29	340	0.0853	223	c.-14 others(240): Show c.-148+736_-148+737insTTCAGTCAGTTCCCCCAGTCAGTGCCCC CTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCA GTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGT GCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCC TCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3176062	A A	ACCATCCA others(216): Show ACCATCCATCCATCCATCCATCCACCCATTGATTCACCTACCCATCCATT CGTCCATTCCTTCATTAACCCATCCATGCACTCATTCATCTATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATTTACCCATCTATCCCCT CATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACCAT CTGTCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0100 a0001c0001t0070g0100	1	210	0.0048	223	c.38- others(240): Show c.38-10013_38-10012insGTCCATTCCTTCATTAACCCATCCATGC ACTCATTCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCAT CCATTTACCCATCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCT ATCTATGCATTCATCCACCATCTGTCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCCATTGATTCACCTACCCATCCATTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(216): Show TATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCA TCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATT CATCCACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03471.hp1 HG02809.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0028 a0002c0003t0004 a0001c0001t0028 a0002c0003t0004	a0001c0001t0028g0126 a0002c0003t0004g0127 a0001c0001t0028g0126 a0002c0003t0004g0127	2	210	0.0095	223	c.38- others(238): Show c.38-9835_38-9834insCATCCATCCACCCATTGATTCACCTACCCA TCCATTCATCCATTCCTTCATTAACCCATCCATGCACTCATTCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTA CCCATCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATG CATTCATCCACCATCTGTCCATCCATCCATCCATCCATCCATC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(216): Show TATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAT TGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCCATGC ACTCATTCATCTATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0062 a0001c0001t0087g0062	1	210	0.0048	223	c.38- others(238): Show c.38-9954_38-9953insTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAT TGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCCATGC ACTCATTCATCTATCCATCCATCCATCCATCCATCCATCCATC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(216): Show TATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02723.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0030 a0001c0022 a0002c0030	a0001c0022t0057 a0002c0030t0047 a0001c0022t0057 a0002c0030t0047	a0001c0022t0057g0139 a0002c0030t0047g0206 a0001c0022t0057g0139 a0002c0030t0047g0206	2	210	0.0095	223	c.38- others(238): Show c.38-9954_38-9953insTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCCATCCATCCATCCATC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855389	A A	ACACCGCC others(216): Show ACACCGCCCTCCACACACACCACCCTCCACACACACCACCCTCCACACAC ACCACCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACAC CGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACCA CCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCCT CCACACACCGCCCTCCACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0251 a0001c0001t0016g0251	1	252	0.0040	223	c.114 others(242): Show c.114+21117_114+21118insGTGTGTGTGGAGGGCGGTGTGTGGAG GGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTG GTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGT GTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGT GTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855389	A A	ACACCGCC others(216): Show ACACCGCCCTCCACACACACCACCCTCCACACACACCACCCTCCACACAC ACCACCCTCCACACACACCACGCTCCACACACACCGCCCTCCACACACAC CGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACCA CCCTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCCT CCACACACCGCCCTCCACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0024 a0001c0010t0024	a0001c0010t0024g0162 a0001c0010t0024g0162	1	252	0.0040	223	c.114 others(242): Show c.114+21117_114+21118insGTGTGTGTGGAGGGCGGTGTGTGGAG GGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTG GTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGT GTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGT GTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122436	G G	GGGAGTTA others(216): Show GGGAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTG TAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0180 a0002c0005t0016g0180	1	286	0.0035	223	c.335 others(242): Show c.335-12825_335-12824insGAGTTAGGGTCACGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGT TAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122758	G G	GTCACGGC others(216): Show GTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTA GGGTCACGGCTGTAGTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	286	0.0035	223	c.335 others(242): Show c.335-12503_335-12502insCACGGCTGTAGTTAGGGTCACGGCGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133883	C C	CTCTCTCT others(216): Show CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	227	0.0044	223	c.24 others(234): Show c.2451_*2452insTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2171		chr19	TogoVar
PTGER2_chr14_52309312_52333598	52313728	T T	TTTTTTTT others(216): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0012 a0001c0005t0011 a0001c0005t0012	a0001c0005t0011g0022 a0001c0005t0012g0022 a0001c0005t0011g0022 a0001c0005t0012g0022	2	418	0.0048	223	c.-82 others(232): Show c.-821_-820insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG	PTGER2	ENSG00000125384.7	transcript	ENST00000245457.6	protein_coding		583		chr14	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(216): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCAC CTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCC CTCACCTCCTTGTGCACCCCCTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0102 a0002c0003t0011g0102	1	295	0.0034	223	c.139 others(242): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTC CTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCC TTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114028870	T T	TGGGGCCA others(216): Show TGGGGCCAGGACCTCTAAAACGGCATCATCCTGGAGGCCAGGACCTCTAA AACGGCATCATCCTGGGGCCAGGACCTCTAAAACGGCATCATCCTGGGGG CCAGGACCTCTAAAACGGCATCATCCTGGGGCCAGGACCTCTAAAACGAC GTCATCCTGGGGGCCAGGACCTCTAAAACAGCTTCATCCTGGTGGGCCAG GACCTCTAAAACGGCGTCATCCTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	223	c.449 others(238): Show c.449+940_449+941insCAGGATGACGCCGTTTTAGAGGTCCTGGCC CACCAGGATGAAGCTGTTTTAGAGGTCCTGGCCCCCAGGATGACGTCGTT TTAGAGGTCCTGGCCCCAGGATGATGCCGTTTTAGAGGTCCTGGCCCCCA GGATGATGCCGTTTTAGAGGTCCTGGCCCCAGGATGATGCCGTTTTAGAG GTCCTGGCCTCCAGGATGATGCCGTTTTAGAGGTCCTGGCCCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	5/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(216): Show GCCCACCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCC ATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCC CCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCATCTCCT GTCCCCCCGTCCCCATCCCCCGTCCCCATCCCCCCACCCCCATCCCCCAC CCCCACCCATCCCCCAGCCCCACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	452	0.0022	223	c.757 others(238): Show c.757-202_757-201insCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCAC CCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCC CGTCCCCCATCTCCTGTCCCCCCGTCCCCATCCCCCGTCCCCATCCCCCC ACCCCCATCCCCCACCCCCACCCATCCCCCAGCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
REPS2_chrX_16941658_17158272	16988566	C C	CAATGCTG others(216): Show CAATGCTGATGAAAGAAATCAAAGTCTAAATAGATGGGGAAACATACCAT GTTCCGGGTTTCAGGATATAAGATAAACTTACAAAAATGAGTTGTATTTC ACATACTAGCTAGAAACAAATGGACACTGAAATTAAAAATACAATACCAT TTACATTCACTCAAGAAATACTTGGGTATAAATCTAACAAAGCATGCACA GGACTTGTATGCTGAAAACTACAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	166	0.0060	223	c.274 others(242): Show c.274-17614_274-17392dupACATACCATGTTCCGGGTTTCAGGAT ATAAGATAAACTTACAAAAATGAGTTGTATTTCACATACTAGCTAGAAAC AAATGGACACTGAAATTAAAAATACAATACCATTTACATTCACTCAAGAA ATACTTGGGTATAAATCTAACAAAGCATGCACAGGACTTGTATGCTGAAA ACTACAAAATGCTGATGAAAGAAATCAAAGTCTAAATAGATGGGGAA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401360	C C	CTCCCTCC others(216): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCC TCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCCTCCTCCCTCCCCC TCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCT CCCTCCTCCTTCCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	354	0.0028	223	c.365 others(238): Show c.365+428_365+429insCTCCCTCCTCCTCCCTCCTCCTCCCTCCTT CCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCC CCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTC CTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATAGAT others(216): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	426	0.0024	223	c.22 others(234): Show c.2256_*2257insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882001	T T	GATAGATA others(216): Show GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATGATATATAGATACATCT ATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	426	0.0024	223	c.22 others(234): Show c.2274_*2275insGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATG ATATATAGATACATCTATATAGATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2080		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882028	A A	ATATATAG others(216): Show ATATATAGATACATCTATATAGATATATAGATACATCATCTATATAGATA TATAGATACATCTATAGATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAATCTATATAG ATACATCTATATAGATATATAATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG01109.hp1 HG02280.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0313 a0006c0009t0002g0316 a0006c0009t0002g0313 a0006c0009t0002g0316	2	426	0.0047	223	c.23 others(234): Show c.2302_*2303insTATATAGATACATCTATATAGATATATAGATACA TCATCTATATAGATATATAGATACATCTATAGATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTAGATATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAATCTATATAGATACATCTATATAGATATATAATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2108		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355397	A A	ACGGGAAT others(216): Show ACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGGTGAACGGGAATGGGG GCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAA GAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGAAGAAGTGGGGTGAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0007 a0002c0027t0007	a0002c0027t0007g0064 a0002c0027t0007g0064	1	292	0.0034	223	c.108 others(242): Show c.10862+821_10862+822insCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGGTGAACGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAC GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCT TACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGGAGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGTGGGGTGAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355653	G G	GACGGGAA others(216): Show GACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGGACGGGAATGGGG GCTTATGGAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACAGGGGAA GAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGG CTTATGGAGGAAGAAGCGGGGTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0059 a0059	a0059c0131 a0059c0131	a0059c0131t0006 a0059c0131t0006	a0059c0131t0006g0010 a0059c0131t0006g0010	1	292	0.0034	223	c.108 others(244): Show c.10862+1094_10862+1095insTGGAGGAAGAAGCGGGGTGGACGG GAATGGGGGCTTATGGAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTA CAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGG AATGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355710	A A	AGGGGAAG others(216): Show AGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAA TGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATG GAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGGACGGGAATGGGGTCTCAGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0086 a0086	a0086c0067 a0086c0067	a0086c0067t0008 a0086c0067t0008	a0086c0067t0008g0206 a0086c0067t0008g0206	1	292	0.0034	223	c.108 others(244): Show c.10862+1135_10862+1136insGGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTATGG AGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGG GGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAAT GGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGAATGGGGTCTCAGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355710	A A	AGGGGGAA others(216): Show AGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTCACAGAGGAAGAAGC GGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGTGGGGTGACCGGGA ATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATG GAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGGACGGGAATGGGGTCTCAGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0088 a0088	a0088c0042 a0088c0042	a0088c0042t0008 a0088c0042t0008	a0088c0042t0008g0208 a0088c0042t0008g0208	1	292	0.0034	223	c.108 others(244): Show c.10862+1135_10862+1136insGGGGAAGAAGCGGGGTGGACGGGA ATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTCACA GAGGAAGAAGTGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAAT GGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGAATGGGGTCTCAGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	242453	C C	CTACCTTC others(216): Show CTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTG ATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCT ATTGATTACCCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	133	0.0075	223	c.613 others(240): Show c.613+4657_613+4658insATCAATAGAGGAAGGGTAATCAATAGAG GAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAAT AGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242589	C C	CTACCTTC others(216): Show CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTAT TGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCT ATTGATTACCCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	133	0.0075	223	c.613 others(240): Show c.613+4521_613+4522insATCAATAGAGGAAGGGTAATCAATAGAG GAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(216): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA19063.hp1 HG02132.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0057 a0001c0001t0001 a0001c0001t0057	a0001c0001t0001g0058 a0001c0001t0057g0138 a0001c0001t0001g0058 a0001c0001t0057g0138	2	202	0.0099	223	c.-20 others(234): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATGTGTCATATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1649		chr7	TogoVar
SCHIP1_chr3_159268244_159902359	159680705	T T	TATAATAT others(216): Show TATAATATATGTATATATAATATACATATATTATATATGTATATATATAC ATATATAATATATGTGTATATATATATACATATATAATATATGTATATAT AATATACATATATAATATATGTATATATATATACATATATAATATATGTA TATATATATAATATACATATATTATATATGTATATATAATATACATATAT AATATATGTATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	100	0.0100	223	c.64- others(240): Show c.64-83738_64-83737insATAATATATGTATATATAATATACATAT ATTATATATGTATATATATACATATATAATATATGTGTATATATATATAC ATATATAATATATGTATATATAATATACATATATAATATATGTATATATA TATACATATATAATATATGTATATATATATAATATACATATATTATATAT GTATATATAATATACATATATAATATATGTATATTATATAATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(216): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAG GGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0093 a0002c0028t0001g0093	1	290	0.0035	223	c.464 others(236): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGG GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	260202	T T	TCCCGTCA others(216): Show TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCGTCAGAGCATTACCG TGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCG TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCGTCAGA GCATTACCGTGTGAGCTCCGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	266	0.0038	223	c.37 others(234): Show c.3782_*3783insCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCC GTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCA GAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGC TCCGCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3121		chr5	TogoVar
SGCZ_chr8_14079845_15243431	15119560	A A	AATTTTCT others(216): Show AATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG02717.hp2 HG02895.hp2 HG02897.hp2 HG06807.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0001c0001t0062 a0001c0001t0073 others(1): Show a0001c0001t0008 a0001c0001t0062 a0001c0001t0073 a0003c0003t0043	a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0062g0082 others(2): Show a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0062g0082 a0001c0001t0073g0053 a0003c0003t0043g0041	5	102	0.0490	223	c.39+ others(242): Show c.39+118024_39+118025insCAGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SHOX_chrX_625791_656584	626336	G G	GTCTCTGT others(216): Show GTCTCTGTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTTTCTCTC CTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTT TCTCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCAT CTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCT CTCTTTCTCTCCTCTCTTTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0174 a0001c0001t0174	a0001c0001t0174g0126 a0001c0001t0174g0126	1	220	0.0046	223	c.-45 others(234): Show c.-4562_-4561insTCTCTGTCTCTCTCCTCTCTCTGTATCTCTGTCT CTGTCTCTTTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTC TCCTCTCTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTCTCT CTTTCTCTCTCTCATCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTG TCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4454		chrX	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(216): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT GGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTCT ACGTGTATGTATACACATATATACATAGAATATATATACTATGTGTATAT ATATACGTAGAATATATATACTATGTGTATATATACGTAGAATATATATA CTATGTGTACATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00735.hp2 others(48): Show HG00408.hp2 HG00544.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01256.hp2 HG01346.hp1 HG01934.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02135.hp1 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19057.hp2 NA19081.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0050 a0001c0001t0056 a0001c0001t0059 a0001c0001t0066 a0001c0004t0055	a0001c0001t0001g0032 a0001c0001t0002g0022 a0001c0001t0002g0025 others(48): Show a0001c0001t0001g0032 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0003g0093 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0108 a0001c0001t0004g0055 a0001c0001t0004g0072 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0095 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0028 a0001c0001t0005g0111 a0001c0001t0006g0006 a0001c0001t0007g0054 a0001c0001t0007g0071 a0001c0001t0007g0073 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0009g0092 a0001c0001t0011g0059 a0001c0001t0011g0065 a0001c0001t0013g0039 a0001c0001t0014g0029 a0001c0001t0015g0056 a0001c0001t0015g0078 a0001c0001t0017g0068 a0001c0001t0018g0007 a0001c0001t0021g0026 a0001c0001t0021g0050 a0001c0001t0024g0110 a0001c0001t0025g0157 a0001c0001t0026g0100 a0001c0001t0027g0031 a0001c0001t0028g0009 a0001c0001t0031g0118 a0001c0001t0035g0146 a0001c0001t0037g0053 a0001c0001t0040g0011 a0001c0001t0050g0094 a0001c0001t0056g0079 a0001c0001t0059g0096 a0001c0001t0066g0083 a0001c0004t0055g0074	51	182	0.2802	223	c.174 others(242): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATGGTATATATATTCTACGTGTGTATATATATACACA TAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATAT ATACTATGTGTATATATATACGTAGAATATATATACTATGTGTATATATA CGTAGAATATATATACTATGTGTACATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140362568	C C	CGGCCAGC others(216): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACCGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCAGCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG02280.hp1 others(6): Show HG01074.hp2 HG01109.hp1 HG02280.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG02965.hp1 HG03540.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0002c0002t0002 a0002c0002t0010 a0002c0002t0011	a0002c0002t0002g0233 a0002c0002t0002g0245 a0002c0002t0002g0246 others(6): Show a0002c0002t0002g0233 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0280 a0002c0002t0010g0244 a0002c0002t0010g0247 a0002c0002t0011g0250 a0002c0002t0011g0251 a0002c0002t0011g0252	9	346	0.0260	223	c.375 others(240): Show c.375+1839_375+1840insAGGCTGGGGGCTGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140362568	C C	CGGCCAGC others(216): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACCGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	346	0.0029	223	c.375 others(240): Show c.375+1839_375+1840insAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCGGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140362568	C C	CGGCCAGC others(216): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACCGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAAGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03710.hp1 HG01175.hp2 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0298 a0002c0002t0001g0262 a0002c0002t0001g0298	2	346	0.0058	223	c.375 others(240): Show c.375+1839_375+1840insAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACTTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140362568	C C	CGGCCAGC others(216): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACCGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(104): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19055.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0002 a0002c0004 others(5): Show a0001c0003 a0002c0002 a0002c0004 a0002c0008 a0002c0011 a0002c0013 a0002c0014 a0005c0009	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(12): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0004t0001 a0002c0008t0001 a0002c0011t0001 a0002c0013t0002 a0002c0014t0009 a0005c0009t0001	a0001c0003t0001g0019 a0001c0003t0002g0089 a0001c0003t0004g0201 others(103): Show a0001c0003t0001g0019 a0001c0003t0002g0089 a0001c0003t0004g0201 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0144 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0293 a0002c0002t0001g0296 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0334 a0002c0002t0002g0108 a0002c0002t0002g0143 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0169 a0002c0002t0002g0254 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0284 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0313 a0002c0002t0002g0333 a0002c0002t0002g0335 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0005g0018 a0002c0002t0005g0088 a0002c0002t0005g0104 a0002c0002t0005g0261 a0002c0002t0005g0294 a0002c0002t0005g0295 a0002c0002t0012g0276 a0002c0002t0012g0297 a0002c0002t0013g0285 a0002c0002t0014g0186 a0002c0004t0001g0149 a0002c0008t0001g0237 a0002c0008t0001g0326 a0002c0011t0001g0275 a0002c0011t0001g0289 a0002c0013t0002g0283 a0002c0014t0009g0098 a0005c0009t0001g0102 a0005c0009t0001g0112	107	346	0.3093	223	c.375 others(240): Show c.375+1839_375+1840insAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC5A9_chr1_48217716_48253638	48244736	A A	ATATATAT others(216): Show ATATATATAAATAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0215 a0002c0002t0003g0215	1	420	0.0024	223	c.183 others(242): Show c.1837+2131_1837+2132insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79919702	C C	CGGAACCG others(216): Show CGGAACCGAGGGAGAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGTGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACGGAACCGAGGGA GAGGTCAGGGTCAGTGAGGAGAGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	352	0.0028	223	c.392 others(238): Show c.392-303_392-302insTCTCTCCTCACTGACCCTGACCTCTCCCTC GGTTCCGTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCTGTCTCT CCTCACTGACCTTGACCTCTCACTCGGTTCCGTCTCTCCTCACTGACCTT GACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCACTC GGTTCCGTCTCTCCCCACTGAGCTTGACCTCTCCCTCGGTTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238642	A A	ACTCAGGA others(216): Show ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGAGCCTGGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	456	0.0022	223	c.732 others(238): Show c.732+593_732+594insCATCAGGTTTGGAGTGAGCCTGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAG CCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAG GAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29558208	A A	AGGGGGGA others(216): Show AGGGGGGAGTGAATGTGAGTGAGGGGGACTGAATCTGAATGGGGGGGAGT GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGT GAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGAGTGAATCTGAATGAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	330	0.0030	223	c.-11 others(242): Show c.-114-4349_-114-4348insCTCATTCAGATTCACTCCCCCTCACT CACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACT CCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCCTCAC TCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCAC TCCCCCCCATTCAGATTCAGTCCCCCTCACTCACATTCACTCCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SORCS2_chr4_7187538_7747827	7449285	T T	TCCTCCCT others(216): Show TCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCC CCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCT TCCTCTTTTCCCTCTCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0001 a0006c0045t0001	a0006c0045t0001g0148 a0006c0045t0001g0148	1	168	0.0060	223	c.548 others(242): Show c.548+52941_548+52942insCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCG TACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCG CCCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCTCTTCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(216): Show ATATATATAGATAGATATATATATTTATATATATATTTATATATATAAAT ATATATATCTAGATATATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG01109.hp1 HG02630.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0008 a0001c0007 a0005c0008	a0001c0007t0014 a0005c0008t0014 a0001c0007t0014 a0005c0008t0014	a0001c0007t0014g0029 a0005c0008t0014g0003 a0001c0007t0014g0029 a0005c0008t0014g0003	2	290	0.0069	223	c.172 others(240): Show c.1720+978_1720+979insATATATAGATAGATATATATATTTATAT ATATATTTATATATATAAATATATATATCTAGATATATATCTATCTATAT ATATTTATATATATAAATATATATATTTATTTTTTTATATATAAAATATA TATATTTATATATATATTTTATATATATAGATATATATATCTATATATTT ATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(216): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATAGATAGATAGATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18612.hp1 NA18981.hp2 others(1): Show HG01981.hp1 NA18612.hp1 NA18981.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0071 a0001c0001t0002g0183 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0071 a0001c0001t0002g0183 a0001c0001t0002g0200	4	290	0.0138	223	c.172 others(240): Show c.1720+978_1720+979insATATATAGATAGATATATATTTTTATAT ATATATTTATATATATAAATATATATAGATAGATAGATATCTATCTATAT ATATTTATATATATAAATATATATATTTATTTTTTTATATATAAAATATA TATATTTATATATATATTTTATATATATAGATATATATATCTATATATTT ATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(216): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATAGATAGATATATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(77): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG01993.hp1 HG02071.hp1 HG02155.hp1 HG02257.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18989.hp1 NA18994.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19067.hp1 NA19081.hp1 NA19082.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0005 a0003c0004 a0005c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0003t0002 a0001c0003t0010 a0001c0003t0015 a0001c0009t0002 a0001c0009t0010 a0002c0005t0001 a0002c0005t0005 a0003c0004t0002 a0005c0008t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(77): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0066 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0147 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0253 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0004g0016 a0001c0001t0004g0097 a0001c0001t0005g0211 a0001c0001t0005g0234 a0001c0001t0005g0239 a0001c0001t0010g0118 a0001c0001t0010g0129 a0001c0001t0010g0168 a0001c0001t0010g0185 a0001c0001t0010g0244 a0001c0001t0010g0261 a0001c0001t0015g0148 a0001c0001t0015g0206 a0001c0001t0015g0228 a0001c0001t0018g0176 a0001c0001t0018g0177 a0001c0001t0027g0020 a0001c0003t0002g0012 a0001c0003t0002g0099 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0002g0282 a0001c0003t0010g0019 a0001c0003t0015g0217 a0001c0009t0002g0081 a0001c0009t0010g0063 a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0001g0067 a0002c0005t0001g0068 a0002c0005t0001g0074 a0002c0005t0001g0075 a0002c0005t0001g0079 a0002c0005t0001g0082 a0002c0005t0001g0083 a0002c0005t0001g0154 a0002c0005t0001g0163 a0002c0005t0001g0186 a0002c0005t0001g0219 a0002c0005t0005g0022 a0002c0005t0005g0023 a0002c0005t0005g0198 a0003c0004t0002g0112 a0003c0004t0002g0133 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0004t0002g0162 a0003c0004t0002g0260 a0003c0004t0002g0263 a0003c0004t0002g0270 a0005c0008t0002g0121 a0005c0008t0002g0122	80	290	0.2759	223	c.172 others(240): Show c.1720+978_1720+979insATATATAGATAGATATATATTTTTATAT ATATATTTATATATATAAATATATATAGATAGATATATATCTATCTATAT ATATTTATATATATAAATATATATATTTATTTTTTTATATATAAAATATA TATATTTATATATATATTTTATATATATAGATATATATATCTATATATTT ATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(216): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATATCTAGATATATATCTATCTATATATATTTATATATATAAATAT ATATATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTT ATATATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATT CCCCCACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02572.hp2 others(9): Show HG01884.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02896.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0019 a0001c0001 a0001c0003 a0001c0019	a0001c0001t0008 a0001c0001t0016 a0001c0003t0012 others(3): Show a0001c0001t0008 a0001c0001t0016 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0019t0016	a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 others(9): Show a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0131 a0001c0001t0008g0171 a0001c0001t0016g0091 a0001c0003t0012g0047 a0001c0003t0016g0169 a0001c0003t0017g0137 a0001c0019t0016g0034	12	290	0.0414	223	c.172 others(240): Show c.1720+978_1720+979insATATATAGATAGATATATATTTTTATAT ATATATTTATATATATAAATATATATATCTAGATATATATCTATCTATAT ATATTTATATATATAAATATATATATTTATTTTTTTATATATAAAATATA TATATTTATATATATATTTTATATATATAGATATATATATCTATATATTT ATTTCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar

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