Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RHBDL1_chr16_670671_683268	679924	GGCTGGGG others(58): Show GGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCC TCTGGATTGGGCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	-65	c.18 others(76): Show c.1873_*1937delGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCG GCTGGGGGCGGGGCCTCTGGATTGGGCGGCT		RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding					1657		chr16	TogoVar
RHBDL1_chr16_670671_683268	679958	GGCTGGGG others(58): Show GGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCT GCGGATGGGGCCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02109.hp1 others(17): Show HG00738.hp1 HG01109.hp2 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02723.hp2 HG02896.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 NA18950.hp2 NA18953.hp1 NA18966.hp1 NA18982.hp1 NA18986.hp2 NA18995.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0004g0001	20	372	0.0538	-65	c.19 others(76): Show c.1907_*1971delGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCT GGGGGCGGGGCCTCTGCGGATGGGGCCGGCT		RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding					1691		chr16	TogoVar
RIC3_chr11_8101056_8174025	8161843	TCCCACTT others(58): Show TCCCACTTTCTCCGGGCAATGGAATGTGAGGAGGTAATGTCCGAAACTGT TGCTATAAATGAGACA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0047 a0006c0011t0047	a0006c0011t0047g0021 a0006c0011t0047g0021	1	370	0.0027	-65	c.124 others(82): Show c.124+6958_124+7022delTGTCTCATTTATAGCAACAGTTTCGGAC ATTACCTCCTCACATTCCATTGCCCGGAGAAAGTGGG		RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	1/5						chr11	TogoVar
RIC3_chr11_8101056_8174025	8161845	CCACTTTC others(58): Show CCACTTTCTCCGGGCAATGGAATGTGAGGAGGTAATGTCCGAAACTGTTG CTATAAATGAGACACT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01891.hp1 others(5): Show HG00639.hp2 HG00741.hp2 HG01891.hp1 HG02735.hp2 HG02886.hp1 HG03209.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0003	a0001c0001t0001g0298 a0001c0001t0006g0086 a0001c0001t0006g0087 others(5): Show a0001c0001t0001g0298 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0007g0319 a0001c0001t0007g0323 a0001c0002t0003g0124	8	370	0.0216	-65	c.124 others(82): Show c.124+6956_124+7020delAGTGTCTCATTTATAGCAACAGTTTCGG ACATTACCTCCTCACATTCCATTGCCCGGAGAAAGTG		RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	1/5						chr11	TogoVar
RIMBP2_chr12_130391133_130721299	130483637	ACCCTCAC others(58): Show ACCCTCACCTACACACAGTGCCCAGAGCCCCCGTCCCCACCTAGACACAG TGCCCGGAGCCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01070.hp2 others(13): Show HG00099.hp2 HG00639.hp2 HG01070.hp2 HG01081.hp1 HG01192.hp1 HG01433.hp1 HG01891.hp2 HG01978.hp2 HG02698.hp2 HG02735.hp1 HG02970.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp2 NA19240.hp2	a0001 a0006 a0016 a0001 a0006 a0016	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0019 a0001c0021 a0006c0018 a0016c0031	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0008t0001 a0001c0019t0001 a0001c0021t0001 a0006c0018t0001 a0016c0031t0002	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0080 others(13): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0136 a0001c0002t0001g0019 a0001c0002t0001g0054 a0001c0002t0001g0161 a0001c0002t0002g0060 a0001c0006t0001g0073 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0008t0001g0176 a0001c0019t0001g0089 a0001c0021t0001g0043 a0006c0018t0001g0052 a0016c0031t0002g0097	16	180	0.0889	-65	c.-3- others(80): Show c.-3-4686_-3-4622delATGGGGGCTCCGGGCACTGTGTCTAGGTGG GGACGGGGGCTCTGGGCACTGTGTGTAGGTGAGGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130483725	AGAGCCCC others(58): Show AGAGCCCCCGTCCCCACCTAGACACAGTGCCCGGAGCCCCCATCCCTCAC CTACACACAGTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	180	0.0056	-65	c.-3- others(80): Show c.-3-4774_-3-4710delCGGGCACTGTGTGTAGGTGAGGGATGGGGG CTCCGGGCACTGTGTCTAGGTGGGGACGGGGGCTC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22						chr12	TogoVar
RNF128_chrX_106721701_106802016	106788439	TATTATAA others(58): Show TATTATAATTATAATATATATAATATTATTATAATTGTAATTATATATTA TAATTATAATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	209	0.0048	-65	c.887 others(80): Show c.887+465_887+529delTATTATAATTGTAATTATATATTATAATTA TAATTATATAATTATAATTATAATATATATAATAT		RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF212B_chr14_23232936_23278477	23276997	AAAGTAGC others(58): Show AAAGTAGCTGAAGGTTTTGAGCAGGTGTTCATTGCTGTCTAGCTCACTGG TCTGGGCTGCTTGCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	368	0.0027	-65	c.41 others(76): Show c.4107_*4171delAAGTAGCTGAAGGTTTTGAGCAGGTGTTCATTGC TGTCTAGCTCACTGGTCTGGGCTGCTTGCGT		RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding					3521		chr14	TogoVar
RNGTT_chr6_88604897_88968618	88947750	CCATCTGG others(58): Show CCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGA GGTGAGGAGCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01515.hp1 HG02523.hp1 others(19): Show HG00738.hp1 HG01515.hp1 HG02523.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG03017.hp2 HG03540.hp1 NA18747.hp2 NA18944.hp2 NA18956.hp2 NA18960.hp2 NA18983.hp1 NA18989.hp2 NA19001.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19063.hp2 NA19072.hp2 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0156 others(19): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0156 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0008g0183 a0001c0001t0009g0011	22	220	0.1000	-65	c.65- others(80): Show c.65-6635_65-6571delAGAGACGCTCCTCACCTCCCAGACGGGGTC TCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATG		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	1/15						chr6	TogoVar
RORA_chr15_60483284_61234302	60597556	ATATATAT others(58): Show ATATATATATATATATATACACATATATATATATATATACACATATATAT ATATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0089 a0001c0001t0018g0089	1	118	0.0085	-65	c.197 others(84): Show c.197-65770_197-65706delATGTATATATATATATATATATATGT GTATATATATATATATATGTGTATATATATATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RPL28_chr19_55380932_55397085	55392738	CCAGGATG others(58): Show CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTCCGCCTCGGTCCCC CAAAGTGCTGGGATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19067.hp1 NA19065.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	2	314	0.0064	-65	c.44 others(76): Show c.4407_*4471delCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG TCCGCCTCGGTCCCCCAAAGTGCTGGGATTA		RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding					654		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80613578	TGTGTTGG others(58): Show TGTGTTGGACTCGGGCTGGGCTGTGTGTTGTGTGGACACAGGTGCTCTCT ATGGTTGAATGAAGTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0032 a0001c0014t0002g0033	2	196	0.0102	-65	c.163 others(84): Show c.163-12092_163-12028delTGTGTGTTGTGTGGACACAGGTGCTC TCTATGGTTGAATGAAGTGGTGTTGGACTCGGGCTGGGC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80613601	TGTGTTGT others(58): Show TGTGTTGTGTGGACACAGGTGCTCTCTATGGTTGAATGAAGTGGTGTTGG ACTCGGGCTGGGCCGC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0012 a0001c0077 a0001c0012 a0001c0077	a0001c0012t0018 a0001c0077t0086 a0001c0012t0018 a0001c0077t0086	a0001c0012t0018g0194 a0001c0077t0086g0195 a0001c0012t0018g0194 a0001c0077t0086g0195	2	196	0.0102	-65	c.163 others(84): Show c.163-12063_163-11999delATGGTTGAATGAAGTGGTGTTGGACT CGGGCTGGGCCGCGTGTTGTGTGGACACAGGTGCTCTCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH9_chr6_43640036_43677600	43647109	ACAGAGCG others(58): Show ACAGAGCGAGACCCTGTCTCAAAACAAATAAATAAATAAATAAACAAACT TTAAAAATAAATAGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01081.hp1 others(5): Show HG00140.hp2 HG00738.hp2 HG01081.hp1 HG01256.hp2 HG01257.hp1 HG01496.hp2 HG01928.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	8	342	0.0234	-65	c.227 others(82): Show c.227+1788_227+1852delAGCGAGACCCTGTCTCAAAACAAATAAA TAAATAAATAAACAAACTTTAAAAATAAATAGGCCAG		RSPH9	ENSG00000172426.16	transcript	ENST00000372163.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
RYR3_chr15_33305967_33871102	33786801	TAATCCAA others(58): Show TAATCCAACACTGGTATTTACTTTCCTGGACAAAGGAATCAGTGTCCTTC TGCAGGACCAAGGAAG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0007 a0002c0051t0007	a0002c0051t0007g0136 a0002c0051t0007g0136	1	154	0.0065	-65	c.958 others(82): Show c.9589+822_9589+886delTCCAACACTGGTATTTACTTTCCTGGAC AAAGGAATCAGTGTCCTTCTGCAGGACCAAGGAAGAA		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	66/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
S100Z_chr5_76845014_76926650	76885847	GGTGGGGG others(58): Show GGTGGGGGGTGCTTGTTCCCCAGAAAAGTGGAGAGAAAAGAGAGAGTAGA GGCATGGAGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG02109.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0088 a0001c0001t0004g0085 a0001c0001t0004g0088	2	348	0.0058	-65	c.2+ others(80): Show c.2+8028_*2+8092delTTCCCCAGAAAAGTGGAGAGAAAAGAGAGA GTAGAGGCATGGAGAGAAGGAGTGGGGGGTGCTTG		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
SARDH_chr9_133658560_133743352	133669064	ACCCTCCA others(58): Show ACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	262	0.0038	-65	c.249 others(84): Show c.2495+1455_2495+1519delAGAGAGAGAGGGAGGGTGAGGGAGAG GGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SCGB2A2_chr11_62265158_62278160	62277951	CCTCTCCC others(58): Show CCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTG CTGCCATCTCGGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp1 others(106): Show HG00099.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02056.hp1 HG02109.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0000 a0001	a0000c0005 a0001c0001 a0000c0005 a0001c0001	a0000c0005t0003 a0001c0001t0001 a0000c0005t0003 a0001c0001t0001	a0000c0005t0003g0062 a0001c0001t0001g0001 a0001c0001t0001g0003 others(18): Show a0000c0005t0003g0062 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060	109	390	0.2795	-65	c.49 others(76): Show c.4957_*5021delCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGA AGCTGGACTGTACTGCTGCCATCTCGGCTCA		SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding					4792		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(58): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	290	0.0035	-65	c.166 others(82): Show c.1663-426_1663-362delGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCO2_chr22_50518568_50530598	50521319	CTGGGAGG others(58): Show CTGGGAGGGTGGCTGTGTACCCCCTACTCCTTTGGGAGGGTGGCTGTGAA CCCCCTACTCCTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01884.hp2 others(16): Show HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG06807.hp2 NA19043.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0002 a0001c0001t0004 a0005c0010t0002 a0001c0001t0002 a0001c0001t0004 a0005c0010t0002	a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0004g0005 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0004g0005 a0005c0010t0002g0032	19	410	0.0463	-65	c.22 others(76): Show c.2227_*2291delAAGGAGGAGTAGGGGGTTCACAGCCACCCTCCCA AAGGAGTAGGGGGTACACAGCCACCCTCCCA		SCO2	ENSG00000284194.3	transcript	ENST00000395693.8	protein_coding					2248		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43253027	TGTACCTT others(58): Show TGTACCTTGCCTCTATTAATACAATGTGGGGGCAGGATGGGAACGGTCAC CTCCCTACCTAAGTCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG03453.hp2 others(1): Show HG02976.hp1 HG03098.hp1 HG03453.hp2 NA18906.hp2	a0002 a0003 a0013 a0002 a0003 a0013	a0002c0002 a0003c0001 a0013c0057 a0002c0002 a0003c0001 a0013c0057	a0002c0002t0029 a0002c0002t0042 a0003c0001t0085 others(1): Show a0002c0002t0029 a0002c0002t0042 a0003c0001t0085 a0013c0057t0077	a0002c0002t0029g0003 a0002c0002t0042g0041 a0003c0001t0085g0267 others(1): Show a0002c0002t0029g0003 a0002c0002t0042g0041 a0003c0001t0085g0267 a0013c0057t0077g0149	4	280	0.0143	-65	c.727 others(82): Show c.727+5127_727+5191delGGACTTAGGTAGGGAGGTGACCGTTCCC ATCCTGCCCCCACATTGTATTAATAGAGGCAAGGTAC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	6/21						chr22	TogoVar
SDHA_chr5_213320_262082	261766	GCCCCCCG others(58): Show GCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATT ACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	266	0.0038	-65	c.53 others(76): Show c.5347_*5411delCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCC CCCCGACAGAGCATTACCGTGTGAGCTCCGC		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					4685		chr5	TogoVar
SDK1_chr7_3296252_4274000	3480354	TGCTCATG others(58): Show TGCTCATGTAGGAACTACTGGAAGAACTTCCGTGTTCCGGATAAGCTGCC TGCCTCCTGCACATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01081.hp2 others(21): Show HG00639.hp1 HG00738.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01361.hp1 HG01516.hp1 HG01934.hp2 HG01978.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02723.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG04228.hp1 HG04228.hp2 NA20752.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0016 a0022 a0023 a0025	a0001c0002 a0001c0004 a0001c0007 others(21): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0025 a0001c0026 a0001c0027 a0001c0034 a0001c0046 a0001c0059 a0001c0061 a0001c0064 a0002c0009 a0002c0029 a0002c0042 a0002c0066 a0003c0033 a0004c0056 a0007c0077 a0016c0023 a0022c0050 a0023c0035 a0025c0070	a0001c0002t0004 a0001c0004t0005 a0001c0007t0021 others(21): Show a0001c0002t0004 a0001c0004t0005 a0001c0007t0021 a0001c0008t0004 a0001c0010t0002 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0034t0028 a0001c0046t0022 a0001c0059t0027 a0001c0061t0031 a0001c0064t0006 a0002c0009t0004 a0002c0029t0005 a0002c0042t0002 a0002c0066t0023 a0003c0033t0002 a0004c0056t0006 a0007c0077t0003 a0016c0023t0030 a0022c0050t0019 a0023c0035t0005 a0025c0070t0026	a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0007t0021g0110 others(21): Show a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0007t0021g0110 a0001c0008t0004g0096 a0001c0010t0002g0085 a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0034t0028g0097 a0001c0046t0022g0091 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0064t0006g0111 a0002c0009t0004g0093 a0002c0029t0005g0094 a0002c0042t0002g0105 a0002c0066t0023g0089 a0003c0033t0002g0103 a0004c0056t0006g0098 a0007c0077t0003g0099 a0016c0023t0030g0113 a0022c0050t0019g0092 a0023c0035t0005g0058 a0025c0070t0026g0112	24	116	0.2069	-65	c.299 others(86): Show c.299-138688_299-138624delGGATAAGCTGCCTGCCTCCTGCAC ATACGCTCATGTAGGAACTACTGGAAGAACTTCCGTGTTCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC14L1_chr17_77135969_77222101	77215760	CTAGTAGG others(58): Show CTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAG GGCTGGTAGGTAGGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02145.hp1 others(6): Show HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03486.hp1 HG03540.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0008c0011	a0001c0001t0059 a0001c0005t0015 a0001c0005t0036 others(3): Show a0001c0001t0059 a0001c0005t0015 a0001c0005t0036 a0001c0005t0037 a0002c0004t0060 a0008c0011t0036	a0001c0001t0059g0390 a0001c0005t0015g0008 a0001c0005t0015g0170 others(5): Show a0001c0001t0059g0390 a0001c0005t0015g0008 a0001c0005t0015g0170 a0001c0005t0015g0171 a0001c0005t0036g0017 a0001c0005t0037g0016 a0002c0004t0060g0187 a0008c0011t0036g0018	9	430	0.0209	-65	c.17 others(76): Show c.1765_*1829delCGTAGGTAGGGTTCGTAGGTAGGGCTGGTAGGTA GGGTTAGTAGGTAGGGCTAGTAGGTAGGGTT		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17				1765	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77215788	CGTAGGTA others(58): Show CGTAGGTAGGGTTCGTAGGTAGGGCTGGTAGGTAGGGTTAGTAGGTAGGG CTAGTAGGTAGGGTTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02451.hp1 others(4): Show HG01255.hp1 HG01884.hp2 HG02451.hp1 HG03098.hp2 HG03225.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 others(3): Show a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0054 a0001c0001t0009g0056 a0001c0001t0009g0057	7	430	0.0163	-65	c.17 others(76): Show c.1789_*1853delCTGGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGG TAGGGTTAGTAGGTAGGGTTCGTAGGTAGGG		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17				1789	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77216175	AGTAGGTA others(58): Show AGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGG TTCGTAGGTAGGGTTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp2 HG03710.hp2 NA20300.hp2 HG02273.hp2 HG03710.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0026 a0003c0007t0007 a0001c0001t0026 a0003c0007t0007	a0001c0001t0026g0394 a0001c0001t0026g0396 a0003c0007t0007g0168 a0001c0001t0026g0394 a0001c0001t0026g0396 a0003c0007t0007g0168	3	430	0.0070	-65	c.21 others(76): Show c.2165_*2229delAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTA GGGTTCGTAGGTAGGGTTCGTAGGTAGGGTT		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17				2165	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP1_chr12_48037897_48111079	48056454	CATATTAC others(58): Show CATATTACATATATAAATATATTATTTAATATATTACATATTACATATAT AAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	394	0.0025	-65	c.140 others(84): Show c.1407+7191_1407+7255delATTAAATAATATATTTATATATGTAA TATGTAATATATTAAATAATATATTTATATATGTAATAT		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SENP1_chr12_48037897_48111079	48056606	TATATTAC others(58): Show TATATTACATATATAAATATATTATTTAATATATTACATATATAAATATA TTATTTAATATATTAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp1 others(65): Show HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG04204.hp2 NA18612.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18972.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19080.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0298 a0001c0001t0010g0299 a0001c0002t0002g0001 others(57): Show a0001c0001t0010g0298 a0001c0001t0010g0299 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0282 a0001c0002t0002g0287	68	394	0.1726	-65	c.140 others(84): Show c.1407+7039_1407+7103delGTAATATATTAAATAATATATTTATA TATGTAATATATTAAATAATATATTTATATATGTAATAT		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SFPQ_chr1_35177936_35198145	35197563	TTTTTTTT others(58): Show TTTTTTTTTTTTTTGAGACGGAGTCTCACCCTGTCGCCCAGGCTGGAATG CAGTGGCGTGATCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	380	0.0026	-65	c.-45 others(76): Show c.-4579_-4515delGGAGATCACGCCACTGCATTCCAGCCTGGGCGAC AGGGTGAGACTCCGTCTCAAAAAAAAAAAAA		SFPQ	ENSG00000116560.12	transcript	ENST00000357214.6	protein_coding					4419		chr1	TogoVar
SH3BGR_chr21_39446970_39520504	39479304	ATGGTGGT others(58): Show ATGGTGGTGATGGTGGTGGTGGAGTGGTAGAGGTGGTGATTGTGGTGGTG ATGGTGGAGATGATGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02630.hp2 others(4): Show HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02886.hp2 HG03209.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(4): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0219 a0001c0001t0001g0228	7	302	0.0232	-65	c.312 others(82): Show c.312+4111_312+4175delAGTGGTAGAGGTGGTGATTGTGGTGGTG ATGGTGGAGATGATGGTGGTGGTGATGGTGGTGGTGG		SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368681	ATATGTTA others(58): Show ATATGTTATATATATAAAATATATATATATTATATATATATAAAATATAT ATTTAATATATGTAAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03453.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0018 a0004c0006t0013g0029 a0004c0006t0013g0030 a0004c0006t0013g0018 a0004c0006t0013g0029 a0004c0006t0013g0030	3	280	0.0107	-65	c.427 others(82): Show c.427+5044_427+5108delATTACATATATTAAATATATATTTTATA TATATATAATATATATATATTTTATATATATAACATA		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12						chr5	TogoVar
SHC2_chr19_411589_466033	452309	GTTCCTGC others(58): Show GTTCCTGCGTAGGTGTGCGTTTCTCCGTTTCATTGAGGTTGGGGCATCGT ACTGACTTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00639.hp1 others(16): Show HG00323.hp2 HG00621.hp2 HG00639.hp1 HG01358.hp2 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02486.hp2 HG03017.hp2 HG03195.hp2 HG03540.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18999.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0023 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0006 a0001c0023t0007 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005	a0001c0001t0001g0099 a0001c0001t0003g0171 a0001c0001t0004g0161 others(16): Show a0001c0001t0001g0099 a0001c0001t0003g0171 a0001c0001t0004g0161 a0001c0001t0005g0047 a0001c0001t0006g0034 a0001c0002t0001g0167 a0001c0002t0003g0157 a0001c0003t0002g0100 a0001c0005t0006g0009 a0001c0023t0007g0186 a0002c0004t0001g0187 a0002c0004t0001g0192 a0002c0004t0001g0199 a0002c0004t0001g0204 a0002c0004t0001g0205 a0002c0004t0004g0191 a0002c0004t0004g0200 a0002c0004t0005g0189 a0002c0004t0005g0201	19	212	0.0896	-65	c.468 others(82): Show c.468+8155_468+8219delTTCCCCCCAAGTCAGTACGATGCCCCAA CCTCAATGAAACGGAGAAACGCACACCTACGCAGGAA		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SHROOM4_chrX_50581796_50819194	50795081	TATATATG others(58): Show TATATATGATATATATATATGATATATATATATGATATATATATATGATA TATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0084 a0003c0004t0001g0084	1	175	0.0057	-65	c.117 others(84): Show c.117+18756_117+18820delCATATATATATATATATATCATATAT ATATATCATATATATATATCATATATATATATCATATAT		SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8						chrX	TogoVar
SLC16A3_chr17_82224042_82245086	82227592	GGGAGCAC others(58): Show GGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGC ACCACCTGCCCTGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	410	0.0024	-65	c.-15 others(76): Show c.-1540_-1476delGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGC		SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding					1449		chr17	TogoVar
SLC20A2_chr8_42411475_42506231	42451972	GATGAAGA others(58): Show GATGAAGAGGAGGAGGAGGAAGAGATGAAGAGGAGGAGGAGGAAGAGATG AAGAGGAAGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02647.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0027 a0001c0004t0004g0077 a0001c0004t0004g0027 a0001c0004t0004g0077	2	238	0.0084	-65	c.614 others(82): Show c.614-7275_614-7211delTCCTCCTCTTCCTCTTCATCTCTTCCTC CTCCTCCTCTTCATCTCTTCCTCCTCCTCCTCTTCAT		SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	5/10						chr8	TogoVar
SLC30A10_chr1_219905445_219933557	219918481	ATGCAAAA others(58): Show ATGCAAAAGTACACCTGCCAGGAAGAAAGACTACTGCAGCACAGATGCAA ATCTGGAAGCCACGTG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0080 a0003c0003t0011g0080	1	426	0.0024	-65	c.719 others(75): Show c.719-52_731delCACGTGGCTTCCAGATTTGCATCTGTGCTGCAGTA GTCTTTCTTCCTGGCAGGTGTACTTTTGCA	p.Gly others(5): Show p.Gly240fs	SLC30A10	ENSG00000196660.12	transcript	ENST00000366926.4	protein_coding	3/4	848/6579	719/1458	240/485			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203299	GAGAGAGA others(58): Show GAGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCATGGAGAGAGAGA GAGAGAGAGAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0116 a0002c0001t0004g0116	1	188	0.0053	-65	c.82 others(76): Show c.8208_*8272delTCTCCCTCTCTCTCTCTCTCTCTCTCCATGGTCT CCCTCTCCCTCTCTCCACGGTCTCTCTCTCT		SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding					3874		chr8	TogoVar
SLC47A2_chr17_19673317_19721584	19698572	AACTCCTG others(58): Show AACTCCTGACCTCAAGTGAGGACCTCCTTTGCCTCAGCCTCCCAAAGTCC AGGGATTACAAGCATG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	366	0.0027	-65	c.116 others(84): Show c.1164+3968_1164+4032delCATGCTTGTAATCCCTGGACTTTGGG AGGCTGAGGCAAAGGAGGTCCTCACTTGAGGTCAGGAGT		SLC47A2	ENSG00000180638.19	transcript	ENST00000433844.4	protein_coding	13/16						chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79927262	GGGCACAC others(58): Show GGGCACACAGGGGCTCATCTGGAGGGACCTGAGGGGCACAGGCTACAGTC GGGAGAGCCCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG02055.hp1 others(15): Show HG01074.hp1 HG01081.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02486.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0023 a0001c0003t0002	a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 others(15): Show a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0281 a0001c0001t0007g0172 a0001c0001t0007g0278 a0001c0001t0008g0215 a0001c0001t0008g0224 a0001c0001t0008g0285 a0001c0001t0014g0316 a0001c0001t0023g0336 a0001c0003t0002g0157	18	352	0.0511	-65	c.391 others(82): Show c.391+6642_391+6706delTGCCCGGGGCTCTCCCGACTGTAGCCTG TGCCCCTCAGGTCCCTCCAGATGAGCCCCTGTGTGCC		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC8B1_chr12_113293771_113340109	113300078	ACAACAAT others(58): Show ACAACAATGCAGCCTCAGCAACAATGCAGCCTCAGCAACAATGCAGCCTC AACAACAATCCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0136 a0001c0007t0013g0136	1	284	0.0035	-65	c.155 others(82): Show c.1558-169_1558-105delAGGCTGGATTGTTGTTGAGGCTGCATTG TTGCTGAGGCTGCATTGTTGCTGAGGCTGCATTGTTG		SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	15/15						chr12	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(58): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00733.hp2 others(15): Show HG00099.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01884.hp1 HG01975.hp2 HG02109.hp1 HG02132.hp2 HG02602.hp2 HG02886.hp1 HG03927.hp2 NA18522.hp2 NA18973.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0002g0005 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0003g0006 a0001c0001t0004g0012	18	380	0.0474	-65	c.17 others(76): Show c.1721_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG		SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding					1017		chr13	TogoVar
SMNDC1_chr10_110285730_110309920	110309184	TTATTTAG others(58): Show TTATTTAGAAGTGGTGCTTAATAGTACTCCAACCATACATTCTTAGTGGT TTATATTCTGAGAGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	392	0.0026	-65	c.-45 others(76): Show c.-4502_-4438delTGCTCTCAGAATATAAACCACTAAGAATGTATGG TTGGAGTACTATTAAGCACCACTTCTAAATA		SMNDC1	ENSG00000119953.14	transcript	ENST00000369603.10	protein_coding					4265		chr10	TogoVar
SMYD3_chr1_245744347_246512279	246493706	CTACTGTC others(58): Show CTACTGTCACCACTATTCCAATAGTTCCAGCTCAAAACCCAGCACTCACC CTTCACCACAGAGCAG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	150	0.0067	-65	c.164 others(84): Show c.164+13283_164+13347delCTGCTCTGTGGTGAAGGGTGAGTGCT GGGTTTTGAGCTGGAACTATTGGAATAGTGGTGACAGTA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246493798	CAGCTCAA others(58): Show CAGCTCAAAACCCAGCACTCACCCTTCACCACAGAGCAGTACTGTCACCA CTATTCCAATAGTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(52): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18984.hp1 NA19000.hp2 NA19057.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0003c0010 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0001c0012t0002 a0003c0010t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(52): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0002t0001g0016 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0076 a0001c0011t0002g0049 a0001c0012t0002g0074 a0003c0010t0001g0031 a0004c0013t0002g0072 a0005c0015t0002g0094	55	150	0.3667	-65	c.164 others(84): Show c.164+13191_164+13255delAGAACTATTGGAATAGTGGTGACAGT ACTGCTCTGTGGTGAAGGGTGAGTGCTGGGTTTTGAGCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SNTN_chr3_63647675_63670212	63657393	ACTAGTTC others(58): Show ACTAGTTCCCAACTCTGCGAGGCAGACAGTGAAGGAATTAAGAGGCAGCA TGCTGGGTTTATTAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	450	0.0022	-65	c.146 others(82): Show c.146-2331_146-2267delCTAGTTCCCAACTCTGCGAGGCAGACAG TGAAGGAATTAAGAGGCAGCATGCTGGGTTTATTAAG		SNTN	ENSG00000188817.8	transcript	ENST00000343837.8	protein_coding	2/3						chr3	TogoVar
SNW1_chr14_77712599_77766156	77755096	TAGCTGAG others(58): Show TAGCTGAGTAGGTGCAGGTAAAAAGCTATAAGCAAAGATAATAAAAGTCA GAAATTTAAAAAACTC	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0285 a0002c0005t0001g0285	1	366	0.0027	-65	c.15- others(73): Show c.15-41_38delGAGTTTTTTAAATTTCTGACTTTTATTATCTTTGCTT ATAGCTTTTTACCTGCACCTACTCAGCT	p.Ser others(16): Show p.Ser5_Leu13delinsArg	SNW1	ENSG00000100603.14	transcript	ENST00000261531.12	protein_coding	2/14	67/2129	15/1611	5/536			chr14	TogoVar
SORCS2_chr4_7187538_7747827	7229827	GTGTATGA others(58): Show GTGTATGAAGGAGATGAAGATGGTCAAGTCTTCGAGTGTCTGGGCAGGAG CAGTGTGGTGTGCTCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG03225.hp1 others(3): Show HG02615.hp1 HG02622.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0002t0001 a0001c0003t0015 a0001c0003t0022 others(3): Show a0001c0002t0001 a0001c0003t0015 a0001c0003t0022 a0001c0005t0007 a0001c0005t0019 a0001c0009t0051	a0001c0002t0001g0123 a0001c0003t0015g0034 a0001c0003t0022g0043 others(3): Show a0001c0002t0001g0123 a0001c0003t0015g0034 a0001c0003t0022g0043 a0001c0005t0007g0065 a0001c0005t0019g0104 a0001c0009t0051g0042	6	168	0.0357	-65	c.480 others(84): Show c.480+36738_480+36802delGTCTGGGCAGGAGCAGTGTGGTGTGC TCATGTATGAAGGAGATGAAGATGGTCAAGTCTTCGAGT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7229976	ATGGTCAA others(58): Show ATGGTCAAGTCTTCGAGTCTCTGGGCAGGAGCAGTGTCATGTGCTCATGT ATGAAGGAGATGAAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01167.hp2 others(36): Show HG00099.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18966.hp2 NA19000.hp2 NA19030.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0014	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0026 a0001c0036 a0001c0038 a0001c0051 a0001c0053 a0002c0004 a0003c0035 a0004c0007 a0006c0018 a0008c0052 a0014c0024	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(35): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0001t0057 a0001c0001t0068 a0001c0002t0004 a0001c0002t0010 a0001c0002t0053 a0001c0002t0054 a0001c0002t0058 a0001c0003t0001 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0064 a0001c0005t0007 a0001c0005t0014 a0001c0005t0023 a0001c0009t0001 a0001c0009t0029 a0001c0011t0016 a0001c0014t0034 a0001c0015t0011 a0001c0026t0062 a0001c0036t0044 a0001c0038t0038 a0001c0051t0001 a0001c0053t0001 a0002c0004t0002 a0003c0035t0007 a0004c0007t0015 a0006c0018t0059 a0008c0052t0004 a0014c0024t0049	a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0004g0138 others(36): Show a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0004g0138 a0001c0001t0008g0142 a0001c0001t0012g0047 a0001c0001t0017g0003 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0057g0094 a0001c0001t0068g0007 a0001c0002t0004g0028 a0001c0002t0010g0045 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0002t0058g0019 a0001c0003t0001g0081 a0001c0003t0010g0001 a0001c0003t0011g0080 a0001c0003t0015g0140 a0001c0003t0064g0005 a0001c0005t0007g0154 a0001c0005t0014g0102 a0001c0005t0023g0032 a0001c0009t0001g0151 a0001c0009t0029g0038 a0001c0011t0016g0076 a0001c0014t0034g0040 a0001c0015t0011g0002 a0001c0026t0062g0049 a0001c0036t0044g0022 a0001c0038t0038g0128 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0002g0127 a0003c0035t0007g0075 a0004c0007t0015g0166 a0006c0018t0059g0145 a0008c0052t0004g0030 a0014c0024t0049g0108	39	168	0.2321	-65	c.480 others(84): Show c.480+36915_480+36979delTTGGTCAAGTCTTCGAGTCTCTGGGC AGGAGCAGTGTCATGTGCTCATGTATGAAGGAGATGAAG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7230209	TGGAGCAG others(58): Show TGGAGCAGTGTCATGTGCTCATGTATGAAGGAGATGAAGATGGTCAAGTC TTCTAGTCGCTGGGCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01167.hp2 others(36): Show HG00099.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18966.hp2 NA19000.hp2 NA19030.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0014	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0026 a0001c0036 a0001c0038 a0001c0051 a0001c0053 a0002c0004 a0003c0035 a0004c0007 a0006c0018 a0008c0052 a0014c0024	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(35): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0001t0057 a0001c0001t0068 a0001c0002t0004 a0001c0002t0010 a0001c0002t0053 a0001c0002t0054 a0001c0002t0058 a0001c0003t0001 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0064 a0001c0005t0007 a0001c0005t0014 a0001c0005t0023 a0001c0009t0001 a0001c0009t0029 a0001c0011t0016 a0001c0014t0034 a0001c0015t0011 a0001c0026t0062 a0001c0036t0044 a0001c0038t0038 a0001c0051t0001 a0001c0053t0001 a0002c0004t0002 a0003c0035t0007 a0004c0007t0015 a0006c0018t0059 a0008c0052t0004 a0014c0024t0049	a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0004g0138 others(36): Show a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0004g0138 a0001c0001t0008g0142 a0001c0001t0012g0047 a0001c0001t0017g0003 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0057g0094 a0001c0001t0068g0007 a0001c0002t0004g0028 a0001c0002t0010g0045 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0002t0058g0019 a0001c0003t0001g0081 a0001c0003t0010g0001 a0001c0003t0011g0080 a0001c0003t0015g0140 a0001c0003t0064g0005 a0001c0005t0007g0154 a0001c0005t0014g0102 a0001c0005t0023g0032 a0001c0009t0001g0151 a0001c0009t0029g0038 a0001c0011t0016g0076 a0001c0014t0034g0040 a0001c0015t0011g0002 a0001c0026t0062g0049 a0001c0036t0044g0022 a0001c0038t0038g0128 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0002g0127 a0003c0035t0007g0075 a0004c0007t0015g0166 a0006c0018t0059g0145 a0008c0052t0004g0030 a0014c0024t0049g0108	39	168	0.2321	-65	c.480 others(84): Show c.480+37136_480+37200delTAGTCGCTGGGCAGGAGCAGTGTCAT GTGCTCATGTATGAAGGAGATGAAGATGGTCAAGTCTTC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7230623	TGGAGCAG others(58): Show TGGAGCAGTGTCATGTGCTCATGTATGAAGGAGATGAAGATGGTCAAGTC TTCGAGTCTCTGGGCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01167.hp2 others(48): Show HG00099.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA18966.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0014 a0016 a0018	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0026 a0001c0036 a0001c0038 a0001c0051 a0001c0053 a0002c0004 a0003c0012 a0003c0035 a0003c0046 a0004c0007 a0005c0008 a0006c0018 a0008c0052 a0014c0024 a0016c0019 a0018c0055	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(45): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0050 a0001c0001t0057 a0001c0001t0068 a0001c0002t0004 a0001c0002t0010 a0001c0002t0053 a0001c0002t0054 a0001c0002t0058 a0001c0003t0001 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0064 a0001c0005t0007 a0001c0005t0014 a0001c0005t0023 a0001c0009t0001 a0001c0009t0029 a0001c0011t0016 a0001c0014t0034 a0001c0015t0011 a0001c0016t0013 a0001c0026t0062 a0001c0036t0044 a0001c0038t0038 a0001c0051t0001 a0001c0053t0001 a0002c0004t0002 a0003c0012t0055 a0003c0035t0007 a0003c0046t0001 a0004c0007t0001 a0004c0007t0015 a0005c0008t0001 a0006c0018t0059 a0008c0052t0004 a0014c0024t0049 a0016c0019t0018 a0018c0055t0048	a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0004g0138 others(48): Show a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0004g0138 a0001c0001t0008g0142 a0001c0001t0012g0047 a0001c0001t0017g0003 a0001c0001t0018g0011 a0001c0001t0018g0099 a0001c0001t0023g0168 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0050g0106 a0001c0001t0057g0094 a0001c0001t0068g0007 a0001c0002t0004g0018 a0001c0002t0004g0028 a0001c0002t0010g0045 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0002t0058g0019 a0001c0003t0001g0081 a0001c0003t0010g0001 a0001c0003t0011g0080 a0001c0003t0015g0140 a0001c0003t0064g0005 a0001c0005t0007g0154 a0001c0005t0014g0102 a0001c0005t0023g0032 a0001c0009t0001g0151 a0001c0009t0029g0038 a0001c0011t0016g0076 a0001c0014t0034g0040 a0001c0015t0011g0002 a0001c0016t0013g0039 a0001c0026t0062g0049 a0001c0036t0044g0022 a0001c0038t0038g0128 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0002g0127 a0003c0012t0055g0033 a0003c0035t0007g0075 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0015g0166 a0005c0008t0001g0029 a0006c0018t0059g0145 a0008c0052t0004g0030 a0014c0024t0049g0108 a0016c0019t0018g0027 a0018c0055t0048g0150	51	168	0.3036	-65	c.480 others(84): Show c.480+37549_480+37613delCGAGTCTCTGGGCAGGAGCAGTGTCA TGTGCTCATGTATGAAGGAGATGAAGATGGTCAAGTCTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar

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