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	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
MYT1_chr20_64159452_64247253	64173904	GTAGTTGT others(90): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04199.hp1 HG03942.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0001g0030 a0001c0005t0001g0031	2	222	0.0090	-97	c.-99 others(114): Show c.-99+9201_-99+9297delTAGCATCTTTCCCTGTAGTTGTGTCCAT TCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174327	CCTGCAGC others(90): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0014 a0001c0001t0013g0014	1	222	0.0045	-97	c.-99 others(114): Show c.-99+9591_-99+9687delGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174698	CTAGTTGT others(90): Show CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0005 a0001c0001t0024g0005	1	166	0.0060	-97	c.-99 others(115): Show c.-99+9995_-99+10091delTAGCATCTTTCCTAGTTGTGTCCATTT CCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTT CCCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175698	CTAGTTGT others(90): Show CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	74	0.0135	-97	c.-99 others(116): Show c.-99+10995_-99+11091delTAGCATCTTTCCTAGTTGTGTCCATT TCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATT TCCCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
OR6K2_chr1_158694678_158705652	158695652	GTTGCAGT others(90): Show GTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03225.hp1 HG02109.hp1 HG03225.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0000 a0008c0010t0001g0000	2	460	0.0043	-97	c.39 others(108): Show c.3929_*4025delTTCTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAA		OR6K2	ENSG00000196171.3	transcript	ENST00000359610.3	protein_coding					4025		chr1	TogoVar
PCBP3_chr21_45638725_45947450	45815157	GGTGAGTA others(90): Show GGTGAGTAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGT GATGAGTGAGTGGTGAGTGATGAGTGGTGAGTGATGAGTGAGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	290	0.0034	-97	c.-12 others(118): Show c.-125-34797_-125-34701delAGTGAGTGGTGAGTGGTGAGTGAG TGGTGAGTGGTGAGTGAGTGATGAGTGAGTGGTGAGTGATGAGTGGTGAG TGATGAGTGAGTGGTGAGTGAGT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	731559	TCCCGTCG others(90): Show TCCCGTCGTGGGTGGGCGTGGTCCTCGGGCATAGGGCGGGGCTCCCCTCC CCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0009 a0002c0002t0045g0009	1	364	0.0027	-97	c.-10 others(112): Show c.-10+453_-10+549delGTCGTGGGTGGGCGTGGTCCTCGGGCATAG GGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGG GCGGGGCTCCCCCGCCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCM1_chr8_17917988_18034948	18009043	AGGAAGCT others(90): Show AGGAAGCTTTAAACATGATCCTATATATCAACTTGAATAGAACTAATGTT TACTTTTGAAGAAAAATTTAAATTAGAATGGTTGTCTTAAGTAAAGGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0032 a0002c0017t0032	a0002c0017t0032g0322 a0002c0017t0032g0322	1	366	0.0027	-97	c.496 others(114): Show c.4963-491_4963-395delCATGATCCTATATATCAACTTGAATAGA ACTAATGTTTACTTTTGAAGAAAAATTTAAATTAGAATGGTTGTCTTAAG TAAAGGTGGAAGCTTTAAA		PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	30/38					INFO_REALIGN_3_PRIME	chr8	TogoVar
PFKP_chr10_3062548_3141802	3085024	CCCAGCAC others(90): Show CCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTCCC CAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCGCCACTCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 HG02647.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0379 a0001c0001t0003g0393 a0001c0001t0003g0379 a0001c0001t0003g0393	2	269	0.0074	-97	c.186 others(114): Show c.186+2571_186+2667delGGTCCCCCACTCCCTCCCCAGCACGGTC CCCCACTCCCTCCCCAGCACGGTCCCCCACTCCCTCCCCAGCACGGTCCG CCACTCCACTCTCCAGCAC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PIEZO2_chr18_10665247_11154569	10757446	GTGGGGAT others(90): Show GTGGGGATAAGAATGAGCTATGGGGATGAAGATGAAAAATGGAGGATGAG TAGGAGAGACAGAAGATGAGGAGGAGGGATGGGGATGAGGATGAGCTA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0059 a0001c0024 a0001c0059	a0001c0024t0007 a0001c0059t0003 a0001c0024t0007 a0001c0059t0003	a0001c0024t0007g0002 a0001c0059t0003g0111 a0001c0024t0007g0002 a0001c0059t0003g0111	2	52	0.0385	-97	c.392 others(114): Show c.3923+426_3923+522delTAGCTCATCCTCATCCCCATCCCTCCTC CTCATCTTCTGTCTCTCCTACTCATCCTCCATTTTTCATCTTCATCCCCA TAGCTCATTCTTATCCCCA		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	27/55						chr18	TogoVar
PIN4_chrX_72176757_72203340	72178882	CGGCCAGC others(90): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	303	0.0033	-97	c.-29 others(108): Show c.-2903_-2807delGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGT CAGCCCCCCACCT		PIN4	ENSG00000102309.15	transcript	ENST00000373669.8	protein_coding					2874		chrX	TogoVar
PJA2_chr5_109329722_109414974	109342099	GGGGATGT others(90): Show GGGGATGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp1 HG02559.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0005 a0002c0002t0001g0006	2	337	0.0059	-97	c.200 others(116): Show c.2001+1994_2001+2090delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACATCCC		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109342320	GGGAGGTG others(90): Show GGGAGGTGGGGGGATCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0021	a0003c0003t0021g0075 a0003c0003t0021g0075	1	344	0.0029	-97	c.200 others(116): Show c.2001+1773_2001+1869delTCCCGGACCGGGCGGCTGGCCGGGCA GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGATCCCCCCACCTCC		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109342338	CCCCCCGC others(90): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGGAGGTGGGGATGTCGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	344	0.0029	-97	c.200 others(116): Show c.2001+1755_2001+1851delCCGACATCCCCACCTCCCTCCCGGAC CGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PLCXD2_chr3_111669676_111732007	111684451	TGAGACTA others(90): Show TGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACA AAAATTAGCCAGGCATGATGGCGGGCGTCTGTAATTCCAGCTACCTGG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	322	0.0031	-97	c.163 others(114): Show c.163+9050_163+9146delAGCCTGGCCAACATGGTGAAACCCCATC TCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCGGGCGTCTGTAAT TCCAGCTACCTGGGAGACT		PLCXD2	ENSG00000240891.8	transcript	ENST00000636933.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
POMT1_chr9_131497918_131528799	131515951	ACACTTCC others(90): Show ACACTTCCTCTAACACAGGACACTTCCTCTCACACTCACACGGAGCACTT CCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACACGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00733.hp1 others(7): Show HG00099.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01975.hp1 HG03669.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0004g0038 others(3): Show a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0004g0038 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0100	10	313	0.0319	-97	c.127 others(114): Show c.1272+458_1272+554delTCACACTCACACGGAGCACTTCCTCTAA CACAGGACACTTCCTCACACGGAGCACTTCCTCACACGGAGCACTTCCTC TAACACAGGACACTTCCTC		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
PPP2R2D_chr10_131896008_131964834	131939160	TCGGCAGA others(90): Show TCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGC TCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(116): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(36): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0003t0037 a0001c0005t0018 a0003c0004t0080	a0001c0001t0003g0020 a0001c0001t0003g0041 a0001c0001t0003g0075 others(108): Show a0001c0001t0003g0020 a0001c0001t0003g0041 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0164 a0001c0001t0004g0019 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0073 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0128 a0001c0001t0004g0134 a0001c0001t0004g0168 a0001c0001t0004g0200 a0001c0001t0005g0006 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0149 a0001c0001t0008g0007 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0166 a0001c0001t0008g0167 a0001c0001t0010g0001 a0001c0001t0010g0018 a0001c0001t0010g0021 a0001c0001t0010g0110 a0001c0001t0010g0124 a0001c0001t0010g0132 a0001c0001t0010g0249 a0001c0001t0011g0001 a0001c0001t0011g0074 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0190 a0001c0001t0015g0028 a0001c0001t0015g0112 a0001c0001t0015g0121 a0001c0001t0015g0123 a0001c0001t0017g0001 a0001c0001t0017g0021 a0001c0001t0017g0109 a0001c0001t0017g0187 a0001c0001t0018g0057 a0001c0001t0018g0058 a0001c0001t0021g0024 a0001c0001t0021g0163 a0001c0001t0022g0052 a0001c0001t0022g0097 a0001c0001t0029g0120 a0001c0001t0029g0139 a0001c0001t0031g0018 a0001c0001t0031g0088 a0001c0001t0032g0001 a0001c0001t0032g0098 a0001c0001t0033g0119 a0001c0001t0035g0258 a0001c0001t0036g0158 a0001c0001t0052g0019 a0001c0001t0053g0171 a0001c0001t0056g0125 a0001c0001t0057g0136 a0001c0001t0064g0096 a0001c0001t0065g0103 a0001c0001t0066g0087 a0001c0001t0067g0165 a0001c0001t0068g0056 a0001c0001t0070g0059 a0001c0001t0071g0095 a0001c0001t0072g0006 a0001c0001t0073g0099 a0001c0001t0074g0145 a0001c0001t0075g0106 a0001c0001t0076g0001 a0001c0001t0077g0080 a0001c0001t0078g0130 a0001c0001t0079g0122 a0001c0003t0037g0169 a0001c0005t0018g0247 a0003c0004t0080g0101	119	365	0.3260	-97	c.199 others(112): Show c.199-864_199-768delACCTGCTCCAGAAAACACGGCAGGCTGCAT TCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGC TCCAGAAAACACGGCAG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM16_chr1_3064203_3443621	3287565	CGGGCATC others(90): Show CGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCTGCCCCTGCCATGCG GGCATCGAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01257.hp2 HG01258.hp1 others(16): Show HG00558.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG02145.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp2 HG06807.hp1 NA18990.hp1 NA19030.hp2 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0001c0022 a0002c0003 a0003c0005 a0006c0019	a0001c0001t0001 a0001c0001t0022 a0001c0001t0028 others(12): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0028 a0001c0001t0045 a0001c0002t0001 a0001c0002t0027 a0001c0002t0064 a0001c0002t0084 a0001c0004t0007 a0001c0004t0029 a0001c0013t0001 a0001c0022t0057 a0002c0003t0004 a0003c0005t0009 a0006c0019t0002	a0001c0001t0001g0029 a0001c0001t0001g0179 a0001c0001t0022g0040 others(16): Show a0001c0001t0001g0029 a0001c0001t0001g0179 a0001c0001t0022g0040 a0001c0001t0028g0126 a0001c0001t0045g0024 a0001c0002t0001g0114 a0001c0002t0001g0208 a0001c0002t0027g0148 a0001c0002t0027g0166 a0001c0002t0064g0182 a0001c0002t0084g0139 a0001c0004t0007g0063 a0001c0004t0007g0071 a0001c0004t0029g0044 a0001c0013t0001g0104 a0001c0022t0057g0138 a0002c0003t0004g0128 a0003c0005t0009g0010 a0006c0019t0002g0028	19	208	0.0913	-97	c.438 others(116): Show c.438+43461_438+43557delGCTGCCCCTGCCATGCGGGCATCGAG GATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGTGGGCATCCAGG ATTGCATTTACCGGGGCTGGA		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3287598	GCTGCCCC others(90): Show GCTGCCCCTGCCATGCGGGCATCGAGGATTGCATTTACCGGGGCTGGAGC CGCCCCCTGCCACGTGGGCATCCAGGATTGCATTTACCGGGGCTGGAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0123 a0002c0003t0004g0123	1	189	0.0053	-97	c.438 others(116): Show c.438+43463_438+43559delTGCCCCTGCCATGCGGGCATCGAGGA TTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGTGGGCATCCAGGAT TGCATTTACCGGGGCTGGAAC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162339253	CCCCCCGC others(90): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCGCCGTCTGGGAGGGAGGTGGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	32	0.0313	-97	c.172 others(116): Show c.172-76585_172-76489delCTGACCCCCCCACCTCCCTCCCAGAC GGCGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGG		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRSS2_chr7_142765970_142779560	142777498	GTAAAGGA others(90): Show GTAAAGGACATGATTTCATTCTTTTCATGGCTGCATAGTATTCCATGGTG TATATGTACCACATTTCCTTCATCCAGTCTACCGCTGATGGCCACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	-97	c.29 others(108): Show c.2991_*3087delTAAAGGACATGATTTCATTCTTTTCATGGCTGCA TAGTATTCCATGGTGTATATGTACCACATTTCCTTCATCCAGTCTACCGC TGATGGCCACCTA		PRSS2	ENSG00000275896.7	transcript	ENST00000539842.6	protein_coding					2939		chr7	TogoVar
PSEN1_chr14_73131507_73228691	73184109	CCCCCCCA others(90): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGCCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	368	0.0027	-97	c.481 others(114): Show c.481-2737_481-2641delACCTCCCTCCCGGACAGGGCGGCTGGCC GGCCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCC		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PTPN2_chr18_12787152_12889237	12874536	GGGGGGGT others(90): Show GGGGGGGTCAGCTCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03831.hp1 NA19004.hp2 others(2): Show HG00408.hp2 HG03831.hp1 NA19004.hp2 NA19062.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0002g0007 a0001c0001t0002g0016 others(2): Show a0001c0001t0001g0047 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0002g0039	5	368	0.0136	-97	c.69+ others(112): Show c.69+9440_69+9536delACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGAGCTGACCCCCC		PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8						chr18	TogoVar
PTPRD_chr9_8309246_10618002	9895268	CAGAAAAT others(90): Show CAGAAAATAAAATATAAAATACACCTTAGGTGGTAACAGTGGGAAGGGGG AAGAATTCTACCAAGGACTTTTAAATTGGGAGGAAAGAGATGGAGATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0025 a0001c0014t0025	a0001c0014t0025g0033 a0001c0014t0025g0033	1	33	0.0303	-97	c.-36 others(118): Show c.-368+43142_-368+43238delTATCTCCATCTCTTTCCTCCCAAT TTAAAAGTCCTTGGTAGAATTCTTCCCCCTTCCCACTGTTACCACCTAAG GTGTATTTTATATTTTATTTTCT		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45						chr9	TogoVar
RAB21_chr12_71749863_71805286	71774289	TACAAAAA others(90): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCAGACAGTGGTGGCATAT GCCTATAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAGAATCACTTGA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0127 a0001c0006t0127	a0001c0006t0127g0168 a0001c0006t0127g0168	1	378	0.0026	-97	c.391 others(112): Show c.391+269_391+365delCAAAAAAAAAAAAAAAAAAAAAAAAAAAGC CAGACAGTGGTGGCATATGCCTATAGTCCCAGCTACTTGGGAGGCTGAAG TGGGAGAATCACTTGAA		RAB21	ENSG00000080371.6	transcript	ENST00000261263.5	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
RANBP17_chr5_170857018_171305015	170955597	TATATATA others(90): Show TATATATATATATGCTCAGTGTATATATATATATATATATATATGCTCAG TGTATATATATATATATATATATATATATATATATACACTGAATGAAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 NA19043.hp2 others(1): Show HG02965.hp2 HG03579.hp1 NA19043.hp2 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0008c0011t0001 a0001c0001t0001 a0001c0001t0002 a0008c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0007 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0007 a0008c0011t0001g0006	4	192	0.0208	-97	c.157 others(116): Show c.1574+1896_1574+1992delATATATATATATGCTCAGTGTATATA TATATATATATATATATGCTCAGTGTATATATATATATATATATATATAT ATATATATACACTGAATGAAC		RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	13/27						chr5	TogoVar
RHBDL1_chr16_670671_683268	679945	TGATGGGG others(90): Show TGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGG GGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGGGGCGGGGCCTCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG02109.hp2 others(10): Show HG00738.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03139.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	13	370	0.0351	-97	c.18 others(108): Show c.1894_*1990delGATGGGGCCGGCGGCTGGGGGCGGGGCCTCTGGA TTGGGCGGCTGCTGGGGGCGGGGCCTCTGCGGATGGGGCCGGCTGCTGGG GGCGGGGCCTCTG		RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding					1678		chr16	TogoVar
RHOV_chr15_40867214_40879234	40875808	AGTGGAGA others(90): Show AGTGGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGA CCTCAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	360	0.0028	-97	c.-17 others(108): Show c.-1766_-1670delCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGA TGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAA ACCTCGTCTCCAC		RHOV	ENSG00000104140.7	transcript	ENST00000220507.5	protein_coding					1575		chr15	TogoVar
RIPK3_chr14_24331025_24344991	24336304	TGTGGGCA others(90): Show TGTGGGCAAGGCAGTTGTCTGTTGCATAGTCAAGTAGTTGTTGTCTCCAA CTTGCACCCCAGAGCAGTTGTATATGTTAACGAGCGGTCGCCCTTTAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG04184.hp2 HG04184.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0029 a0007c0012t0001g0029	1	426	0.0023	-97	c.133 others(108): Show c.1337-6_1427delTTAAAGGGCGACCGCTCGTTAACATATACAACTG CTCTGGGGTGCAAGTTGGAGACAACAACTACTTGACTATGCAACAGACAA CTGCCTTGCCCAC	p.Gly others(5): Show p.Gly446fs	RIPK3	ENSG00000129465.16	transcript	ENST00000216274.10	protein_coding	10/10	1592/1872	1337/1557	446/518			chr14	TogoVar
RNF175_chr4_153705160_153765024	153761978	AGTGGAGG others(90): Show AGTGGAGGGGAGATGGAGAGATGTGTTTGGGGATGGGAGATCTAGGTAAT AGAATCTACTGTACTTGACTCATCTCCAAGGATGGTGCCCAGGCATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	392	0.0026	-97	c.-22 others(108): Show c.-2213_-2117delACATGCCTGGGCACCATCCTTGGAGATGAGTCAA GTACAGTAGATTCTATTACCTAGATCTCCCATCCCCAAACACATCTCTCC ATCTCCCCTCCAC		RNF175	ENSG00000145428.15	transcript	ENST00000347063.9	protein_coding					1955		chr4	TogoVar
RNF44_chr5_176521712_176542402	176530316	CAGGTGCA others(90): Show CAGGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCA CGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCA	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0021 a0006c0013t0021	a0006c0013t0021g0071 a0006c0013t0021g0071	1	442	0.0023	-97	c.801 others(112): Show c.801+169_802-111delTGGGCTCCGGGGCGGCTGGGAGGCAGGCCC ACCGGGCTGACTTGCACGTGGGCTCCGGGGCGGCTGGGAGGCAGGCCCAC CGGGCTGACTTGCACCT		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
ROBO2_chr3_77035099_77654964	77164373	CGTCCGGG others(90): Show CGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03239.hp2 HG03492.hp2 others(1): Show HG01516.hp2 HG03239.hp2 HG03492.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0045 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0045 a0008c0012t0004	a0001c0001t0002g0094 a0001c0001t0004g0010 a0001c0001t0045g0072 others(1): Show a0001c0001t0002g0094 a0001c0001t0004g0010 a0001c0001t0045g0072 a0008c0012t0004g0059	4	160	0.0250	-97	c.388 others(116): Show c.388+66055_388+66151delTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCAGTGCT GTCCGGGAGGGAGGTGGGGGG		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
S1PR4_chr19_3173769_3185332	3174977	TCTCATGG others(90): Show TCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCCTCATGGGAC GCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00673.hp2 others(22): Show HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01261.hp2 HG01884.hp1 HG01975.hp2 HG01993.hp1 HG02145.hp1 HG02148.hp2 HG02280.hp2 HG02886.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp2 NA18944.hp2 NA19074.hp1 NA20300.hp1 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0009c0021	a0001c0001t0001 a0001c0003t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0017t0001 a0009c0021t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0017t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0017t0001g0000 a0009c0021t0001g0000	25	416	0.0601	-97	c.-38 others(108): Show c.-3815_-3719delCTCATGGGACGCCTGTGCCCCTCATGGGACACCT GTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGG GACGCCTGTGCCC		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					3791		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175305	TCTCACGG others(90): Show TCTCACGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG CCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00735.hp1 others(25): Show HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp2 HG01993.hp1 HG02145.hp1 HG02148.hp2 HG02280.hp2 HG02738.hp2 HG02886.hp1 HG03704.hp1 HG03710.hp1 NA18944.hp2 NA19074.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0009c0021	a0001c0001t0001 a0001c0003t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0017t0001 a0009c0021t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0017t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0017t0001g0000 a0009c0021t0001g0000	28	416	0.0673	-97	c.-34 others(108): Show c.-3487_-3391delCTCACGGGACGCCTGTGCCCTCATGGGACGCCTG TGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGG GACGCCTGTGCCC		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					3463		chr19	TogoVar
SARDH_chr9_133658560_133743352	133669028	CCTCACCT others(90): Show CCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(32): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG01081.hp1 HG01433.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18971.hp2 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19059.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0011 others(8): Show a0001c0001 a0001c0006 a0001c0011 a0001c0024 a0001c0030 a0001c0033 a0001c0041 a0002c0005 a0002c0008 a0002c0010 a0003c0017	a0001c0001t0001 a0001c0006t0001 a0001c0011t0001 others(8): Show a0001c0001t0001 a0001c0006t0001 a0001c0011t0001 a0001c0024t0001 a0001c0030t0001 a0001c0033t0002 a0001c0041t0001 a0002c0005t0001 a0002c0008t0001 a0002c0010t0001 a0003c0017t0001	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 others(32): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0257 a0001c0006t0001g0211 a0001c0006t0001g0214 a0001c0011t0001g0109 a0001c0024t0001g0096 a0001c0030t0001g0239 a0001c0033t0002g0030 a0001c0041t0001g0093 a0002c0005t0001g0124 a0002c0008t0001g0230 a0002c0008t0001g0232 a0002c0010t0001g0035 a0003c0017t0001g0253	35	260	0.1346	-97	c.249 others(116): Show c.2495+1459_2495+1555delAGAGAGGGAGGGTGAGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGG GTAAGGGAGAGGGAAGGTGAG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669155	TCCCTCAC others(90): Show TCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTC CCTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0119 a0002c0012t0001g0119	1	255	0.0039	-97	c.249 others(116): Show c.2495+1332_2495+1428delGAGAGGGAGGGTGAGGGAGAGGGAGG GTAAGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGT GAGGGAGAGGGAAGGTGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SCUBE1_chr22_43192280_43348372	43280393	CCCCGTCC others(90): Show CCCCGTCCCTTCCCCTCACCCATCCTCCTGTCCCTTCCCCTCACCCATCC CCCTGTCCCTTCCCCTCACCCATCCTCCCGTCCCTTCCCCTCACCCAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA21309.hp2 HG00639.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0054 a0002c0005 a0001c0054 a0002c0005	a0001c0054t0028 a0002c0005t0074 a0001c0054t0028 a0002c0005t0074	a0001c0054t0028g0017 a0002c0005t0074g0056 a0001c0054t0028g0017 a0002c0005t0074g0056	2	278	0.0072	-97	c.484 others(116): Show c.484+10556_484+10652delATGGGTGAGGGGAAGGGACGGGAGGA TGGGTGAGGGGAAGGGACAGGGGGATGGGTGAGGGGAAGGGACAGGAGGA TGGGTGAGGGGAAGGGACGGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280942	CTCCTGTC others(90): Show CTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTC ACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0016 a0016	a0016c0036 a0016c0036	a0016c0036t0002 a0016c0036t0002	a0016c0036t0002g0133 a0016c0036t0002g0133	1	278	0.0036	-97	c.484 others(116): Show c.484+10007_484+10103delTAGCTGAGGAGGAGATGACAGAAGGG TGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGG CCAAAGAGGGAGGTGACAGGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SDHA_chr5_213320_262082	261734	GCCTCCCG others(90): Show GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01071.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0002g0050 a0001c0001t0001g0018 a0001c0001t0002g0050	3	263	0.0114	-97	c.53 others(108): Show c.5315_*5411delCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCC CCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACC GTGTGAGCTCCGC		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					4653		chr5	TogoVar
SDK1_chr7_3296252_4274000	4157341	GGAAGAAG others(90): Show GGAAGAAGGAAGGAAAGTGGGAAGGGAGGAAGAAGGGAGAGAAGGAATGA GGGGAGGGAGGGAGGAATGAAGAAAAGGAGGGAAGGAAGGCAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00738.hp1 others(46): Show HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0010 a0011 a0012 a0013 a0014 a0016 a0020 a0024 a0029 a0031	a0001c0002 a0001c0005 a0001c0007 others(40): Show a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0025 a0001c0026 a0001c0027 a0001c0032 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0046 a0001c0059 a0001c0067 a0001c0087 a0001c0088 a0001c0091 a0001c0093 a0001c0095 a0002c0012 a0002c0013 a0002c0041 a0002c0043 a0002c0054 a0002c0066 a0002c0090 a0005c0057 a0005c0058 a0005c0065 a0010c0082 a0011c0021 a0011c0022 a0012c0015 a0013c0070 a0014c0085 a0016c0045 a0020c0063 a0024c0023 a0029c0084 a0031c0069	a0001c0002t0040 a0001c0005t0001 a0001c0005t0051 others(44): Show a0001c0002t0040 a0001c0005t0001 a0001c0005t0051 a0001c0007t0003 a0001c0008t0004 a0001c0008t0007 a0001c0010t0002 a0001c0010t0060 a0001c0011t0008 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0032t0058 a0001c0036t0033 a0001c0037t0002 a0001c0038t0013 a0001c0039t0050 a0001c0046t0022 a0001c0059t0027 a0001c0067t0068 a0001c0087t0009 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0001c0095t0029 a0002c0012t0016 a0002c0013t0015 a0002c0013t0064 a0002c0041t0007 a0002c0043t0035 a0002c0054t0002 a0002c0066t0023 a0002c0090t0010 a0005c0057t0013 a0005c0058t0012 a0005c0065t0037 a0010c0082t0001 a0011c0021t0073 a0011c0022t0072 a0012c0015t0017 a0013c0070t0026 a0014c0085t0043 a0016c0045t0015 a0020c0063t0007 a0024c0023t0030 a0029c0084t0045 a0031c0069t0069	a0001c0002t0040g0084 a0001c0005t0001g0025 a0001c0005t0051g0030 others(46): Show a0001c0002t0040g0084 a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0007t0003g0032 a0001c0008t0004g0095 a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0032t0058g0043 a0001c0036t0033g0116 a0001c0037t0002g0077 a0001c0038t0013g0038 a0001c0039t0050g0022 a0001c0046t0022g0091 a0001c0059t0027g0090 a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0015g0024 a0002c0013t0064g0023 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0054t0002g0101 a0002c0066t0023g0088 a0002c0090t0010g0047 a0005c0057t0013g0045 a0005c0058t0012g0063 a0005c0065t0037g0065 a0010c0082t0001g0076 a0011c0021t0073g0007 a0011c0022t0072g0008 a0012c0015t0017g0059 a0012c0015t0017g0066 a0013c0070t0026g0112 a0014c0085t0043g0010 a0016c0045t0015g0046 a0020c0063t0007g0106 a0024c0023t0030g0113 a0029c0084t0045g0011 a0031c0069t0069g0064	49	116	0.4224	-97	c.462 others(116): Show c.4626-1106_4626-1010delGAAGAAGGAAGGAAAGTGGGAAGGGA GGAAGAAGGGAGAGAAGGAATGAGGGGAGGGAGGGAGGAATGAAGAAAAG GAGGGAAGGAAGGCAAGAGAA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	30/44						chr7	TogoVar
SEH1L_chr18_12943011_12992531	12980423	ACCCCCCA others(90): Show ACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA TCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01070.hp2 others(27): Show HG00099.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01255.hp1 HG01516.hp1 HG02015.hp2 HG02071.hp1 HG02132.hp2 HG03017.hp2 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 NA18941.hp1 NA18944.hp1 NA18956.hp2 NA18966.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp1 NA19005.hp2 NA19055.hp1 NA19064.hp2 NA19065.hp2 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0095 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0205 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0320	30	371	0.0809	-97	c.761 others(114): Show c.761+1532_761+1628delCCCCCCAACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGATCCCCCAACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTG		SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8						chr18	TogoVar
SEZ6L_chr22_26164462_26388596	26338804	CCTCGGCC others(90): Show CCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCGG ACTTTTTTTTTTTCTTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01261.hp1 others(3): Show HG00741.hp2 HG01070.hp1 HG01261.hp1 HG01433.hp2 HG02572.hp2 HG03041.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0009 a0002c0002 others(1): Show a0001c0003 a0001c0009 a0002c0002 a0005c0011	a0001c0003t0001 a0001c0003t0005 a0001c0009t0006 others(2): Show a0001c0003t0001 a0001c0003t0005 a0001c0009t0006 a0002c0002t0006 a0005c0011t0006	a0001c0003t0001g0071 a0001c0003t0005g0184 a0001c0009t0006g0113 others(3): Show a0001c0003t0001g0071 a0001c0003t0005g0184 a0001c0009t0006g0113 a0002c0002t0006g0061 a0002c0002t0006g0173 a0005c0011t0006g0105	6	238	0.0252	-97	c.201 others(116): Show c.2016-1629_2016-1533delCGGCCTCCCAAAGTGCTGGGATTATA GGCGTGAGCCACCACGCCCGGACTTTTTTTTTTTCTTTTTTTTTTTTTTT TTGTAGAGACAGGGTCTCTCT		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SGCZ_chr8_14079845_15243431	14100516	TTATATTA others(90): Show TTATATTAATATATTTTCAAAATATTATACATTAGATTAATATATTATAT ATTAATATATTTTCAAATAATATATTATATTTTATTAATTTATATTAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 HG03942.hp1 others(2): Show HG01243.hp2 HG02886.hp1 HG03942.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 others(2): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0060 a0001c0001t0063	a0001c0001t0014g0024 a0001c0001t0017g0011 a0001c0001t0018g0037 others(2): Show a0001c0001t0014g0024 a0001c0001t0017g0011 a0001c0001t0018g0037 a0001c0001t0060g0071 a0001c0001t0063g0094	5	102	0.0490	-97	c.744 others(114): Show c.744+1763_744+1859delTTAATATAAATTAATAAAATATAATATA TTATTTGAAAATATATTAATATATAATATATTAATCTAATGTATAATATT TTGAAAATATATTAATATA		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	7/7						chr8	TogoVar
SHROOM2_chrX_9781429_9954443	9791968	CGAGAATA others(90): Show CGAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0022 a0022	a0022c0064 a0022c0064	a0022c0064t0003 a0022c0064t0003	a0022c0064t0003g0119 a0022c0064t0003g0119	1	101	0.0099	-97	c.165 others(114): Show c.165+5261_165+5357delGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGA		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC12A1_chr15_48201302_48309078	48270743	TATGTGTG others(90): Show TATGTGTGTATATATATATATATATATATATATATATATATATACACACA CACACACATAATACTTGGAGTATATAATATGTAATATTTGGAGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	264	0.0038	-97	c.240 others(115): Show c.2402+982_2402+1078delGTGTGTATATATATATATATATATATA TATATATATATATACACACACACACACATAATACTTGGAGTATATAATAT GTAATATTTGGAGTATACAT		SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(90): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01433.hp1 others(2): Show HG00438.hp1 HG01074.hp1 HG01433.hp1 HG01891.hp2 HG02572.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0004c0006t0001 a0001c0001t0001 a0001c0002t0001 a0004c0006t0001	a0001c0001t0001g0307 a0001c0002t0001g0115 a0001c0002t0001g0178 others(2): Show a0001c0001t0001g0307 a0001c0002t0001g0115 a0001c0002t0001g0178 a0001c0002t0001g0308 a0004c0006t0001g0386	5	11	0.4545	-97	c.206 others(116): Show c.2062+1804_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAA AAAAAAAAAAAAAAAAAAAAA		SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20						chr7	TogoVar
SLC7A1_chr13_29504414_29600688	29558726	GTGAGGGG others(90): Show GTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGG AGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01167.hp1 others(14): Show HG00140.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG02129.hp2 HG02300.hp2 HG03669.hp2 NA18940.hp1 NA18948.hp2 NA18950.hp1 NA18969.hp1 NA19012.hp2 NA19057.hp1 NA19064.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0043	a0001c0001t0004g0260 a0001c0002t0001g0178 a0001c0002t0002g0125 others(14): Show a0001c0001t0004g0260 a0001c0002t0001g0178 a0001c0002t0002g0125 a0001c0002t0002g0176 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0190 a0001c0002t0002g0195 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0315 a0001c0002t0007g0016 a0001c0002t0007g0022 a0001c0002t0007g0033 a0001c0002t0007g0034 a0001c0002t0007g0035 a0001c0002t0043g0172	17	328	0.0518	-97	c.-11 others(116): Show c.-114-4963_-114-4867delGATTCACTCTGCCTCACTCACATTCT CTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCTCTCCCCCTCA CTCACATTCTCTCCCCCCTCA		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558730	GGGGGGAG others(90): Show GGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0003 a0002c0007t0016g0003	2	194	0.0103	-97	c.-11 others(116): Show c.-114-4967_-114-4871delTTCAGATTCACTCTGCCTCACTCACA TTCTCTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCTCTCCCC CTCACTCACATTCTCTCCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558912	GGGGGAGA others(90): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGA ATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03130.hp1 NA18965.hp1 others(2): Show HG01993.hp2 HG03130.hp1 NA18965.hp1 NA18967.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0002 a0001c0002t0007 a0002c0007t0016 a0001c0002t0002 a0001c0002t0007 a0002c0007t0016	a0001c0002t0002g0167 a0001c0002t0002g0202 a0001c0002t0007g0017 others(1): Show a0001c0002t0002g0167 a0001c0002t0002g0202 a0001c0002t0007g0017 a0002c0007t0016g0003	5	325	0.0154	-97	c.-11 others(116): Show c.-114-5149_-114-5053delTCACTCACATTCTCTCCCCCCTCACA TTCACTCCCCCCTCATTCAGATTCACTCTGCCTCACTCACATTCTCTCCC CCTCACTCACATTCTCTCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558989	GGGGGGAG others(90): Show GGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0307 a0001c0002t0004g0307	1	183	0.0055	-97	c.-11 others(116): Show c.-114-5226_-114-5130delTTCAGATTCACTCTGCCTCACTCACA TTCTCTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCACTCCCC CTCACTCACATTCTCTCCCCC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar

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