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
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(198): Show CCCCTGAGGACAGGAGCCGCCCTGAGGACTAGAGCCCCCTGAGGACTGGA GCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGG AGCCCCCTGAGGACTGGAGCCACCTGAGGACTGGAGCCGCCTGAGGACTG GAGCCGCCTGAGGACTGGATACCCCTGAGGATTGGAGCCACCTGAGGACT GGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0012 a0018 a0022 a0024 a0025	a0001c0001 a0001c0008 a0004c0007 others(7): Show a0001c0001 a0001c0008 a0004c0007 a0004c0009 a0005c0004 a0012c0014 a0018c0019 a0022c0020 a0024c0021 a0025c0024	a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 others(13): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0008t0001 a0004c0007t0031 a0004c0009t0001 a0004c0009t0017 a0005c0004t0004 a0012c0014t0001 a0018c0019t0001 a0022c0020t0001 a0024c0021t0001 a0025c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0014g0025 a0001c0001t0017g0109 a0001c0001t0030g0095 a0001c0001t0032g0096 a0001c0001t0036g0104 a0001c0008t0001g0006 a0004c0007t0031g0067 a0004c0009t0001g0007 a0004c0009t0017g0092 a0005c0004t0004g0112 a0012c0014t0001g0037 a0012c0014t0001g0038 a0018c0019t0001g0093 a0022c0020t0001g0094 a0024c0021t0001g0107 a0025c0024t0001g0098	144	309	0.4660	205	c.-37 others(216): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(198): Show CCCCTGAGGACAGGAGCCGCCCTGAGGACTAGAGCCCCCTGAGGACTGGA GCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGG AGCCCCCTGAGGACTGGAGCCACCTGAGGACTGGAGCCGCCTGAGGACTG GAGCCGCCTGAGGACTGGATACCCCTGAGGATTGGAGCCGCCTGAGGACT GGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19088.hp1 NA19068.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	167	0.0120	205	c.-37 others(216): Show c.-3743_-3742insAGCTCCAGTCCTCAGGCGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OSBPL6_chr2_178189512_178407893	178327083	A A	AATATCAA others(198): Show AATATCAAGCAAACTTGCAGTTTTAGACTGATCCTATTACTCCTCAGAAT TTGCCCTGCCAAAAGAAAGGAAGCCAGGCTTTTAAATGCCCTCCACTAGT CAGTCACTAGCTGAGAGTAACCTTGATAGGATGTGTACTCCTGGCCCCTG ACAGCTCTCTGTACATATACCTTGAACACAAAACAGTGCCTGGCACAGAA GATCAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG03471.hp1 others(1): Show HG02486.hp2 HG02922.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0015g0156 others(1): Show a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0015g0156 a0001c0001t0015g0162	4	198	0.0202	205	c.196 others(222): Show c.196-1173_196-1172insATATCAAGCAAACTTGCAGTTTTAGACT GATCCTATTACTCCTCAGAATTTGCCCTGCCAAAAGAAAGGAAGCCAGGC TTTTAAATGCCCTCCACTAGTCAGTCACTAGCTGAGAGTAACCTTGATAG GATGTGTACTCCTGGCCCCTGACAGCTCTCTGTACATATACCTTGAACAC AAAACAGTGCCTGGCACAGAAGATCAG	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	4/24			chr2	TogoVar
PAK1_chr11_77317017_77479094	77332359	G G	GAAGGGGA others(198): Show GAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGAGGG GGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAGGG GAAGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	300	0.0033	205	c.155 others(222): Show c.1551+370_1551+371insGCCTTCCCCTTCCCTTCCCTTCCCTTCC TTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(198): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCACTCCCCTTCCCTTCCCCTCCACTCCCCTTCCCCTCCCCTCCA CTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0236 a0001c0004t0028g0236	1	68	0.0147	205	c.226 others(224): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCTTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(198): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAG AAAGAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	202	0.0050	205	c.20- others(220): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGCT others(198): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	302	0.0033	205	c.143 others(220): Show c.143-394_143-393insCTGGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741361	C C	CGGGGGGC others(198): Show CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTCGCA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	301	0.0033	205	c.143 others(220): Show c.143-298_143-297insCGCGGGGGGCTCGCGGGGGGCTCGCAGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGCTCGCAGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGZ_chr3_196941356_196973833	196948980	C C	CCCTTCCC others(198): Show CCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTCC TTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTTACTTCTCTTCC CCTCCCCTCCCTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTT CCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCT TCCCTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	416	0.0024	205	c.212 others(220): Show c.212-296_212-295insAAGGGAAGGAAGGGAAGGAAGGAAGGGAAG GAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGG AAGGGAAGGAAGGGAGGGAGGGGAGGGGAAGAGAAGTAAAGGGAAGGAAG GGAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGAGG GGAGGGGAAGGGAAGGAAGGGAAGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(198): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC TCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0016 a0004c0043t0016	a0004c0043t0016g0056 a0004c0043t0016g0056	1	82	0.0122	205	c.575 others(226): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTT GGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(198): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18747.hp1 HG04204.hp1 NA18747.hp1	a0003 a0045 a0003 a0045	a0003c0012 a0045c0025 a0003c0012 a0045c0025	a0003c0012t0001 a0045c0025t0001 a0003c0012t0001 a0045c0025t0001	a0003c0012t0001g0025 a0045c0025t0001g0031 a0003c0012t0001g0025 a0045c0025t0001g0031	2	83	0.0241	205	c.575 others(226): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(198): Show CTTTTAACATGGCAGTCATATATAATATATATTATATAATATTATATATT ATATATTATATATTATATAATATTATATATTATATATTATATATTATATA ATATATATTATATAATATATATTATATATTATATAATATAATTATATATT ATATAATTATATAATTATATAATATATTATATAATTATATAATTATATAA TATATT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	56	0.0179	205	c.33+ others(220): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATATAATATTATATATTATATATTATATATTATATAATATTATATATT ATATATTATATATTATATAATATATATTATATAATATATATTATATATTA TATAATATAATTATATATTATATAATTATATAATTATATAATATATTATA TAATTATATAATTATATAATATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50285512	C C	CACCTGAG others(198): Show CACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGC CTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTC ACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGG CACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCC CTCCGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0272 a0002c0019t0002g0272	1	274	0.0036	205	c.208 others(222): Show c.2088+287_2088+288insACGGAGGGAGGGGTGCCGGCCGGTGACA GGCAGGCTCAGGTACGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTC AGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGA GGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGT GCCGGCCGGTGACAGGCAGGCTCAGGT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50285674	C C	CACCTTAG others(198): Show CACCTTAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGC CTGCCTGTCACCGGCCGACACCCCTCCCTCCGCACCTGAGCCTGCCTGTC ACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGG CACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCC CTCCGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02818.hp2 others(5): Show HG02109.hp2 HG02559.hp2 HG02818.hp2 HG02886.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp2	a0002 a0008 a0002 a0008	a0002c0032 a0002c0071 a0002c0073 others(2): Show a0002c0032 a0002c0071 a0002c0073 a0008c0035 a0008c0036	a0002c0032t0001 a0002c0032t0012 a0002c0071t0003 others(3): Show a0002c0032t0001 a0002c0032t0012 a0002c0071t0003 a0002c0073t0001 a0008c0035t0003 a0008c0036t0003	a0002c0032t0001g0286 a0002c0032t0012g0287 a0002c0071t0003g0094 others(5): Show a0002c0032t0001g0286 a0002c0032t0012g0287 a0002c0071t0003g0094 a0002c0073t0001g0263 a0008c0035t0003g0093 a0008c0035t0003g0095 a0008c0036t0003g0039 a0008c0036t0003g0054	8	267	0.0300	205	c.208 others(222): Show c.2088+125_2088+126insACGGAGGGAGGGGTGCCGGCCGGTGACA GGCAGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTC AGGTACGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGA GGGAGGGGTGTCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGT GCCGGCCGGTGACAGGCAGGCTAAGGT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PNPLA7_chr9_137454952_137555402	137503975	G G	GAGAAGAC others(198): Show GAGAAGACGAGGAAAGAAGAAGGAAGAAGAGGAAGTAGAAGAAGATGTAG ATGAAGAAGAAGGAAGGAAGTAGGAAGAAGGAGAAGAAATAGGAAGAAGG AAGGAAGAAGGAAGATGGAAGAAGAAGGAAAACGGACATAAGCAAAAGAA GAATGGAAGAAGAAGAAAGAAAGAAAGATAGAAAGAGAAAGAAGAAGAAA GAAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0173 a0002c0015t0001g0173	1	186	0.0054	205	c.147 others(224): Show c.1473+1638_1473+1639insTCTTTCTTTCTTCTTCTTTCTCTTTC TATCTTTCTTTCTTTCTTCTTCTTCCATTCTTCTTTTGCTTATGTCCGTT TTCCTTCTTCTTCCATCTTCCTTCTTCCTTCCTTCTTCCTATTTCTTCTC CTTCTTCCTACTTCCTTCCTTCTTCTTCATCTACATCTTCTTCTACTTCC TCTTCTTCCTTCTTCTTTCCTCGTCTTCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2122093	G G	GGTAGTTA others(198): Show GGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATT TAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03017.hp1 NA18969.hp2 others(2): Show HG02132.hp2 HG03017.hp1 NA18969.hp2 NA19064.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0068 a0001c0001t0001g0146 a0001c0001t0002g0034 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0146 a0001c0001t0002g0034 a0001c0002t0002g0041 a0001c0003t0001g0001	5	219	0.0228	205	c.335 others(224): Show c.335-13167_335-13166insAGTTAGGATCATGGCTGTAGTTAGCG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGG TGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162011223	T T	TCATAAAT others(198): Show TCATAAATAATACTATATTATATATAATATAGTATATATTTATGATATAT ACTATATTATATATAATATAGTATATATTTATGATATATACTATATATAA TATAGTATATATTTATGATATATACTATATATAATATAGTATATATTTAT GATATATACTATATATAATATAGTATATATTTATGATATATACTATATAT AATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	32	0.0313	205	c.619 others(224): Show c.619-37807_619-37806insTATATTATATATAGTATATATCATAA ATATATACTATATTATATATAGTATATATCATAAATATATACTATATTAT ATATAGTATATATCATAAATATATACTATATTATATATAGTATATATCAT AAATATATACTATATTATATATAATATAGTATATATCATAAATATATACT ATATTATATATAATATAGTATTATTTATG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(198): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC TTTCTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	92	0.0109	205	c.-51 others(222): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(198): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0276 a0001c0001t0006g0276	1	358	0.0028	205	c.548 others(222): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATACAAAAAATTAGCCGGGCGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(198): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCT CCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTTCCCCCTCCCTCCTC CCCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0031 a0001c0001t0016g0031	1	16	0.0625	205	c.191 others(226): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCACTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCT GCTCCCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCC CTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTTCCCCCTCCCT CCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXDN_chr2_1626887_1749515	1720298	A A	AGGGATGC others(198): Show AGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGG AGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG ATGCACAGAGAGAGGGAGGGATGCAGAGAGAGGGAGGGATGCAGAGAGAG AGGGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	296	0.0034	205	c.200 others(224): Show c.200+23957_200+23958insCTCCCTCTCTCTCTGCATCCCTCCCT CTCTCTGCATCCCTCCCTCTCTCTGTGCATCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGC ATTCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGC ATCCCTCCCTCTCTCTCTCTCTGCATCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(198): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTATTAGATATATATA TTATTATATATATCTAATAGATATATATATATTATTATATATATCTAATA GATATATATATTATTATATATATCTAATAGATATATATATTATTATATAT ATCTAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	222	0.0045	205	c.38- others(220): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATATCTATTAGATATATATAATAATATATATATCTAATAGATATATAT AATAATATATATATCTAATAGATATATATAATAATATATATATCTAATAG ATATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB3GAP1_chr2_135047292_135175710	135078707	C C	CCCCTCCC others(198): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0257 a0001c0004t0013g0257	1	277	0.0036	205	c.151 others(224): Show c.151-12291_151-12290insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCTCCTT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23			chr2	TogoVar
RFX3_chr9_3213297_3531001	3505421	A A	AATATAAA others(198): Show AATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTT ATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAAAT AAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATATA AATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTT ATATTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp2 HG01891.hp2 others(7): Show HG00621.hp2 HG01243.hp2 HG01891.hp2 HG02615.hp2 HG02647.hp1 HG03195.hp2 NA18522.hp1 NA18612.hp2 NA18971.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 a0001c0001t0043 a0001c0001t0051 a0001c0001t0062 a0001c0001t0064 a0001c0001t0066	a0001c0001t0001g0122 a0001c0001t0001g0159 a0001c0001t0002g0115 others(7): Show a0001c0001t0001g0122 a0001c0001t0001g0159 a0001c0001t0002g0115 a0001c0001t0010g0096 a0001c0001t0021g0146 a0001c0001t0043g0098 a0001c0001t0051g0121 a0001c0001t0062g0003 a0001c0001t0064g0120 a0001c0001t0066g0186	10	38	0.2632	205	c.-9+ others(222): Show c.-9+20325_-9+20326insAAATATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTAT TTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAA AGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505453	A A	ATATAAAA others(198): Show ATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTTA TTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAAATA AAATACTTTATATTTATATAAATATAAAATAAAATACTTTATTTTATATA AATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTT ATATTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG03041.hp1 others(1): Show HG02257.hp2 HG02258.hp1 HG03041.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0073 a0001c0001t0074 a0001c0001t0026 a0001c0001t0073 a0001c0001t0074	a0001c0001t0026g0194 a0001c0001t0026g0196 a0001c0001t0073g0192 others(1): Show a0001c0001t0026g0194 a0001c0001t0026g0196 a0001c0001t0073g0192 a0001c0001t0074g0195	4	193	0.0207	205	c.-9+ others(222): Show c.-9+20293_-9+20294insAAATATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTAT TTTATATTTATATAAATATAAAGTATTTTATTTTATATTTATATAAAATA AAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATATTT ATATAAAATAAAGTATTTTATTTTATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGSL1_chr1_182445146_182565597	182509472	C C	CGGCTGGC others(198): Show CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCAGA CGGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02630.hp1 others(5): Show HG02145.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0185 others(5): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0005t0001g0270	8	334	0.0240	205	c.182 others(226): Show c.1826-12524_1826-12523insGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC ACCCCTCACCTCCCAGACGGGGTGGCTGGCC	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCCT others(198): Show GCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0120 a0001c0001t0053g0120	1	29	0.0345	205	c.-76 others(214): Show c.-764_-763insCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(198): Show GCTCCCTCTCCCTCTCCCTCCCTCTCCTCCCTCTCCCTCTCCTCCTCTCC CTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCTCCCTCCTCCCCTCTCCCTCTCCCTCTCC CTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	1	29	0.0345	205	c.-76 others(214): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCCCTCTCCTCCCTCTCCC TCTCCTCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCCCTCCTCCCCTCTC CCTCTCCCTCTCCCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(198): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATAATATAATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	360	0.0028	205	c.-31 others(216): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAC ATTATATTATATAATATATTATATATTATATTATATTATATATTATATAT TATATTATATTATATATTATATATTATATATTATATTATATATTATATAT TATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(198): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATAATATAATGT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01175.hp2 NA20752.hp1 HG00642.hp2 HG01175.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	362	0.0083	205	c.-31 others(216): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAT ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATTATATTATATATTATATATTATATATTATATTATATATTATATAT TATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(198): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTG GGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCG GCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCG GCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGC CCCCGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02004.hp2 HG04204.hp1 HG00741.hp2 HG02004.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024	a0001c0001t0002g0262 a0001c0001t0004g0264 a0001c0001t0024g0263 a0001c0001t0002g0262 a0001c0001t0004g0264 a0001c0001t0024g0263	3	90	0.0333	205	c.-36 others(220): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGA GGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACC GAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCC CCGCCGCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGTGGGG others(198): Show GGGTGGGGTGGAGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGA GGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCC CACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCT GCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGC CCCCGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03130.hp2 others(1): Show HG02280.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0033 a0001c0001t0001g0309 a0001c0001t0011g0310 a0001c0001t0001g0033 a0001c0001t0001g0309 a0001c0001t0011g0310	4	91	0.0440	205	c.-36 others(220): Show c.-367+48_-367+49insTGGGGTGGAGTGGGGTGGGGTGGGGCGGGG CCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGT CCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACG CCGCTGCCGCCGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCC CCCGCCGCCCCCGCCGCCCCCGCGG	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCGGGA others(198): Show GTGCGGGAGGCTGAGTCTACGGGACTCCGTGCGGGAGGCTGAGTCTATGG GGACTCCGTGAGGGGTGGCTGAGTCTATGGGACTCCGTGCGGGAGGCTGA GGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCC GGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGG ACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	205	c.-26 others(216): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGCACGGAGTCCCATAGAC TCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCGCACGGAGTC CCGTAGACTCAGCCTCCCGCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078531	G G	GGGAGGCT others(198): Show GGGAGGCTGAGGCTATGGGGACTCCGTGGGGGAGCGTGAGGCTATGGGAC TCGTGGGGGGAGGCTGAGGCATGGGACTCCGTGGGGGAGGCTGAGCTATG GGGACTCCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGAGGG CTGAGGGCTATGGGGACTCCGTGGGGGGAGGCTTGAGGCTATGGGGACTC AGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	304	0.0033	205	c.-45 others(216): Show c.-4526_-4525insGGCACTGAGTCCCCATAGCCTCAAGCCTCCCCCC ACGGAGTCCCCATAGCCCTCAGCCCTCCCCCACGGAGTCCCCATAGCCTC AGCCTCCCCCCACGGGAGTCCCCATAGCTCAGCCTCCCCCACGGAGTCCC ATGCCTCAGCCTCCCCCCACGAGTCCCATAGCCTCACGCTCCCCCACGGA GTCCCCATAGCCTCAGCCTCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4226		chr1	TogoVar
RPH3AL_chr17_207389_357807	242693	T T	TTACCTTC others(198): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCT ATTGAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	89	0.0112	205	c.613 others(222): Show c.613+4417_613+4418insGTCAATAGAGGAAGGGTAATCAATAGAG GAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242693	T T	TTACCTTC others(198): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCT ATTGAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	89	0.0112	205	c.613 others(222): Show c.613+4417_613+4418insGTCAATAGAGGAAGGGTAATCAATAGAG GAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304964	A A	AGAGGGGA others(198): Show AGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGGGAGGGAGACAGGGCGAGAGGGGA CAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	31	0.0323	205	c.351 others(224): Show c.351+14455_351+14456insCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCTCC CTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCTCGCCCTGTCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSPH10B_chr7_5921136_5975689	5930763	C C	CGTACACA others(198): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01981.hp1 HG02056.hp1 others(2): Show HG00621.hp2 HG01981.hp1 HG02056.hp1 HG02074.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0013t0001g0054	5	18	0.2778	205	c.223 others(224): Show c.2233+2018_2233+2019insATGCTCACCTTTGCTGCTAGGCATCT TGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCT GTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATG CTCACCTTTGCTGCTAGGTATCTTGGGGGGCTGTGTACATGTACACCTTT GCTGCTAGGCATCTTGGTGGGCTGTGTAC	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5930783	A A	ACCTAGCA others(198): Show ACCTAGCAGCAAAGGTGAGCACGTACACAGCCCCCCAAGATGCCTAGCAG CAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGA GCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACA CAGCCCCTCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCC AAGATG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0067 a0005c0004t0003g0067	1	11	0.0909	205	c.223 others(224): Show c.2233+1998_2233+1999insCATCTTGGGGGGCTGTGTACATGCTC ACCTTTGCTGCTAGGCATCTTGAGGGGCTGTGTACATGCTCACCTTTGCT GCTAGGCATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGTAT CTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGG CTGTGTACGTGCTCACCTTTGCTGCTAGG	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
RSPH1_chr21_42467486_42501224	42477101	C C	CCCCCTCC others(198): Show CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTG CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC CTCTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0330 a0002c0003t0001g0330	1	285	0.0035	205	c.727 others(220): Show c.727+189_727+190insTCAGAGGGTGTAGGGCACCCCCGGGCTGTG GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGG GGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGG GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC ATCCCCGGGCTGTGGGGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477183	A A	ACCCCTCC others(198): Show ACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA CCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGC CCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTG CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC CTCTGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	251	0.0040	205	c.727 others(220): Show c.727+107_727+108insGCAGAGGGTGTAGGGCACCCCCGGGCTGTG GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGG GGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGG GTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC ACCCCCGGGCTGTGGAGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477223	G G	GACCCCTC others(198): Show GACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAG CCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGT GCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACAC CCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC CCTCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	389	0.0026	205	c.727 others(218): Show c.727+67_727+68insTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG GCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAG TGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGG CAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATC CCCGGGCTGTGGGGTGGAGGGGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(198): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC TCCACT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	122	0.0082	205	c.727 others(218): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(198): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC TCCACT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	122	0.0082	205	c.727 others(218): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477239	G G	GTGCCCCA others(198): Show GTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC ACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGC CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	393	0.0025	205	c.727 others(218): Show c.727+51_727+52insTCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCA CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC TGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGGCAGAGGGTGTGGGGCA	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(198): Show CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC TGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC CACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA GCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGG TGCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18981.hp2 NA19002.hp2 others(1): Show NA18961.hp2 NA18981.hp2 NA19002.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0005 a0001c0001t0001g0047	4	156	0.0256	205	c.727 others(218): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(198): Show CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTC TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTC CACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA GCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA TGCCCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	153	0.0065	205	c.727 others(218): Show c.727+45_727+46insAGGGCATCCCCGGGCTGTGGGGTGGAGGGGGC AGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT GGAGTGGAGGGGGCAGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RYR2_chr1_237037184_237838988	237286556	C C	CTTTATTG others(198): Show CTTTATTGACTTTCTGTCTTGATGACCTGTCTGGTGCTGTCAGTGGAACA TTGAAGTCCCCCCGCTATTATTATGTTGCTGTCTGTCTCATTTGTTAGGT CTATTAGTAATTGTTTTATAAATTTGGGAGCTCCAGTGTTAGGTGCATAT ATGTTTAGGATTGTGATATTTTCCTGTTGCACAAGGCCTTTTACTATCAT ATACCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp2 others(10): Show HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01361.hp2 HG01928.hp2 HG02293.hp1 HG02293.hp2 HG03471.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0027 a0001c0042 a0001c0047 a0002c0009 a0003c0006 a0003c0013	a0001c0001t0003 a0001c0001t0004 a0001c0002t0010 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0004t0011 a0001c0007t0003 a0001c0027t0002 a0001c0042t0017 a0001c0047t0002 a0002c0009t0002 a0003c0006t0002 a0003c0013t0001	a0001c0001t0003g0100 a0001c0001t0004g0036 a0001c0002t0010g0021 others(10): Show a0001c0001t0003g0100 a0001c0001t0004g0036 a0001c0002t0010g0021 a0001c0003t0001g0078 a0001c0003t0003g0046 a0001c0004t0011g0093 a0001c0007t0003g0057 a0001c0027t0002g0085 a0001c0042t0017g0050 a0001c0047t0002g0077 a0002c0009t0002g0079 a0003c0006t0002g0006 a0003c0013t0001g0091	13	36	0.3611	205	c.168 others(224): Show c.168+15944_168+15945insTTGACTTTCTGTCTTGATGACCTGTC TGGTGCTGTCAGTGGAACATTGAAGTCCCCCCGCTATTATTATGTTGCTG TCTGTCTCATTTGTTAGGTCTATTAGTAATTGTTTTATAAATTTGGGAGC TCCAGTGTTAGGTGCATATATGTTTAGGATTGTGATATTTTCCTGTTGCA CAAGGCCTTTTACTATCATATACCATTTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237286556	C C	CTTTATTG others(198): Show CTTTATTGACTTTCTGTCTTGATGACCTGTCTGGTGCTGTCAGTGGAGCA TTGAAGTCCCCCCGCTATTATTATGTTGCTGTCTGTCTCATTTGTTAGGT CTATTAGTAATTGTTTTATAAATTTGGGAGCTCCAGTGTTAGGTGCATAT ATGTTTAGGATTGTGATATTTTCCTGTTGCACAAGGCCTTTTACTATCAT ATACCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00609.hp2 others(61): Show HG00280.hp2 HG00408.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(34): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0028 a0001c0029 a0001c0030 a0001c0036 a0001c0040 a0001c0041 a0001c0044 a0001c0045 a0002c0009 a0002c0012 a0002c0025 a0002c0035 a0002c0038 a0002c0039 a0003c0006 a0003c0021 a0003c0043 a0004c0034 a0006c0020 a0007c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(56): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0023 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0006 a0001c0005t0031 a0001c0007t0001 a0001c0007t0016 a0001c0008t0024 a0001c0008t0025 a0001c0008t0039 a0001c0010t0004 a0001c0010t0026 a0001c0011t0004 a0001c0011t0041 a0001c0014t0032 a0001c0015t0006 a0001c0016t0030 a0001c0017t0034 a0001c0018t0029 a0001c0019t0019 a0001c0022t0009 a0001c0023t0003 a0001c0028t0007 a0001c0029t0008 a0001c0030t0005 a0001c0036t0003 a0001c0040t0036 a0001c0041t0006 a0001c0044t0002 a0001c0045t0001 a0002c0009t0004 a0002c0009t0008 a0002c0012t0002 a0002c0012t0020 a0002c0025t0037 a0002c0035t0018 a0002c0038t0040 a0002c0039t0033 a0003c0006t0004 a0003c0021t0001 a0003c0043t0002 a0004c0034t0013 a0006c0020t0001 a0007c0033t0008	a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0088 others(61): Show a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0006g0025 a0001c0001t0007g0011 a0001c0001t0007g0082 a0001c0001t0015g0069 a0001c0001t0038g0001 a0001c0002t0001g0070 a0001c0002t0002g0022 a0001c0002t0003g0008 a0001c0002t0003g0052 a0001c0002t0009g0017 a0001c0002t0023g0059 a0001c0002t0028g0033 a0001c0003t0001g0063 a0001c0003t0002g0065 a0001c0003t0002g0090 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0005t0006g0029 a0001c0005t0031g0028 a0001c0007t0001g0020 a0001c0007t0016g0042 a0001c0008t0024g0081 a0001c0008t0025g0039 a0001c0008t0039g0002 a0001c0010t0004g0097 a0001c0010t0026g0051 a0001c0011t0004g0064 a0001c0011t0041g0054 a0001c0014t0032g0031 a0001c0015t0006g0034 a0001c0016t0030g0024 a0001c0017t0034g0032 a0001c0018t0029g0041 a0001c0019t0019g0035 a0001c0022t0009g0066 a0001c0023t0003g0071 a0001c0028t0007g0062 a0001c0029t0008g0089 a0001c0030t0005g0053 a0001c0036t0003g0038 a0001c0040t0036g0095 a0001c0041t0006g0027 a0001c0044t0002g0014 a0001c0045t0001g0073 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0002g0072 a0002c0012t0020g0074 a0002c0025t0037g0003 a0002c0035t0018g0010 a0002c0038t0040g0096 a0002c0039t0033g0030 a0003c0006t0004g0087 a0003c0021t0001g0019 a0003c0043t0002g0068 a0004c0034t0013g0043 a0006c0020t0001g0015 a0007c0033t0008g0049	64	87	0.7356	205	c.168 others(224): Show c.168+15944_168+15945insTTGACTTTCTGTCTTGATGACCTGTC TGGTGCTGTCAGTGGAGCATTGAAGTCCCCCCGCTATTATTATGTTGCTG TCTGTCTCATTTGTTAGGTCTATTAGTAATTGTTTTATAAATTTGGGAGC TCCAGTGTTAGGTGCATATATGTTTAGGATTGTGATATTTTCCTGTTGCA CAAGGCCTTTTACTATCATATACCATTTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(198): Show AATACAGTACTTATTTATAAATACAGTACTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	268	0.0037	205	c.632 others(222): Show c.632+8312_632+8313insCAGTACTTATTTATAAATACAGTACTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar

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