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 genename

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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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIGIRR_chr11_400716_419999	402179	AGACCCCC others(63): Show AGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCA CCCCGGACCCCGCTCACCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	242	0.0041	-70	c.36 others(81): Show c.3647_*3716delGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCCGG GGTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3536		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412553	AGAAAAGA others(63): Show AGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0312 a0002c0002t0017g0312	1	320	0.0031	-70	c.116 others(89): Show c.1167+8167_1167+8236delCTTCTTTCTTTCCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SKI_chr1_2223319_2315213	2262045	ATCTGGAA others(63): Show ATCTGGAAGGCGTGGAATCAGAGTTTGGGTGGGAGTGGTGGGAGTGGACA CCCTCGCTCCTGATCTCCTGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(87): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG02622.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0046 a0001c0001t0052 a0001c0001t0054 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0068 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0001t0084 a0001c0001t0088 a0001c0005t0003 a0001c0006t0040 a0001c0010t0048 a0001c0011t0039	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0110 others(87): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0323 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0154 a0001c0001t0002g0326 a0001c0001t0003g0046 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0143 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0013 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0134 a0001c0001t0004g0151 a0001c0001t0004g0260 a0001c0001t0004g0325 a0001c0001t0005g0153 a0001c0001t0005g0157 a0001c0001t0005g0161 a0001c0001t0006g0131 a0001c0001t0006g0142 a0001c0001t0006g0150 a0001c0001t0007g0108 a0001c0001t0007g0133 a0001c0001t0007g0162 a0001c0001t0008g0107 a0001c0001t0008g0111 a0001c0001t0008g0140 a0001c0001t0010g0164 a0001c0001t0012g0155 a0001c0001t0012g0160 a0001c0001t0012g0258 a0001c0001t0013g0176 a0001c0001t0013g0177 a0001c0001t0014g0051 a0001c0001t0014g0144 a0001c0001t0015g0126 a0001c0001t0015g0136 a0001c0001t0018g0147 a0001c0001t0018g0149 a0001c0001t0023g0091 a0001c0001t0023g0139 a0001c0001t0025g0122 a0001c0001t0026g0050 a0001c0001t0028g0055 a0001c0001t0029g0056 a0001c0001t0030g0054 a0001c0001t0036g0262 a0001c0001t0037g0012 a0001c0001t0046g0057 a0001c0001t0052g0007 a0001c0001t0054g0159 a0001c0001t0061g0138 a0001c0001t0062g0257 a0001c0001t0063g0259 a0001c0001t0068g0145 a0001c0001t0076g0113 a0001c0001t0077g0011 a0001c0001t0079g0128 a0001c0001t0082g0156 a0001c0001t0084g0112 a0001c0001t0088g0120 a0001c0005t0003g0137 a0001c0006t0040g0053 a0001c0010t0048g0052 a0001c0011t0039g0071	90	330	0.2727	-70	c.969 others(89): Show c.969+32364_969+32433delCGCTCCTGATCTCCTGGTCTGGAAGG CGTGGAATCAGAGTTTGGGTGGGAGTGGTGGGAGTGGACACCCT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070362	CCCCCAGC others(63): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02723.hp1 NA20752.hp1 HG02698.hp2 HG02723.hp1 NA20752.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0004 a0007c0033 a0001c0001 a0002c0004 a0007c0033	a0001c0001t0001 a0002c0004t0022 a0007c0033t0004 a0001c0001t0001 a0002c0004t0022 a0007c0033t0004	a0001c0001t0001g0052 a0002c0004t0022g0087 a0007c0033t0004g0072 a0001c0001t0001g0052 a0002c0004t0022g0087 a0007c0033t0004g0072	3	118	0.0254	-70	c.224 others(89): Show c.2241+3201_2241+3270delCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070620	CCCCCAGC others(63): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01517.hp1 HG02615.hp1 others(1): Show HG00639.hp2 HG01517.hp1 HG02615.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0019 a0001c0018t0020 a0001c0001t0001 a0001c0001t0019 a0001c0018t0020	a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0019g0035 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0019g0035 a0001c0018t0020g0076	4	118	0.0339	-70	c.224 others(89): Show c.2241+2943_2241+3012delCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070658	GAGCCCCC others(63): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp2 HG02683.hp2 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0022 a0001c0001t0001 a0002c0004t0022	a0001c0001t0001g0051 a0002c0004t0022g0087 a0001c0001t0001g0051 a0002c0004t0022g0087	2	118	0.0170	-70	c.224 others(89): Show c.2241+2905_2241+2974delGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071044	CCCCCAGC others(63): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0087 a0002c0004t0022g0087	1	118	0.0085	-70	c.224 others(89): Show c.2241+2519_2241+2588delCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071082	GAGCCCCC others(63): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0007 a0001c0031t0003g0007	1	118	0.0085	-70	c.224 others(89): Show c.2241+2481_2241+2550delGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071503	GAGCCCCC others(63): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0046 a0001c0013t0003g0046	1	118	0.0085	-70	c.224 others(89): Show c.2241+2060_2241+2129delGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071751	GAGCCCCC others(63): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20752.hp2 HG02451.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0004 a0001c0009 a0002c0004	a0001c0009t0006 a0002c0004t0001 a0001c0009t0006 a0002c0004t0001	a0001c0009t0006g0064 a0002c0004t0001g0041 a0001c0009t0006g0064 a0002c0004t0001g0041	2	118	0.0170	-70	c.224 others(89): Show c.2241+1812_2241+1881delGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC24A3_chr20_19207642_19727926	19679507	GGGAGACC others(63): Show GGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGACGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0080 a0001c0003t0003g0042 a0001c0001t0001g0080 a0001c0003t0003g0042	2	160	0.0125	-70	c.768 others(87): Show c.768-2328_768-2259delCCGTGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGGAGACGGAGACGGAGACCGTGGGGAGAGGGAGA	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A41_chr19_6421037_6438763	6429028	TATATATA others(63): Show TATATATATATAATATATATATTATATATATGTTATATATATATATAATA TATATATTATATATATGTTAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	350	0.0029	-70	c.624 others(85): Show c.624+626_624+695delGTAACATATATATAATATATATATTATATA TATATATAACATATATATAATATATATATTATATATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84928546	CTTTCTTT others(63): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0019 a0019	a0019c0062 a0019c0062	a0019c0062t0003 a0019c0062t0003	a0019c0062t0003g0270 a0019c0062t0003g0270	1	396	0.0025	-70	c.108 others(89): Show c.1083+4456_1084-4510delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A12_chr6_133982581_134057624	134032405	AATATATA others(63): Show AATATATATATATATATATATTTATATATATATATATATATATAAATATA TATATATATATTTTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	338	0.0030	-70	c.104 others(87): Show c.104-2754_104-2685delATATATAAAAATATATATATATATATTT ATATATATATATATATATATAAATATATATATATATATATAT	SLC2A12	ENSG00000146411.6	transcript	ENST00000275230.6	protein_coding	1/4			chr6	TogoVar
SLC2A9_chr4_9821224_10026497	10017746	TTGTGCTC others(63): Show TTGTGCTCCAAGAACCTGGAGCTCCCCGCATTTCCCCAGATGTGTCCTAC ATCCGTGTCCCCAAAACGGCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0333 a0010c0017t0001g0333	1	336	0.0030	-70	c.249 others(87): Show c.249+1159_249+1228delGGCCGTTTTGGGGACACGGATGTAGGAC ACATCTGGGGAAATGCGGGGAGCTCCAGGTTCTTGGAGCACA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	2/11			chr4	TogoVar
SLC38A10_chr17_81239811_81300307	81278073	GACCAGCA others(63): Show GACCAGCACAGCGGCCAGCGGAGCCAAATCCCAAACCGCCTTGAAGAAAG TGAAAGAAAACACAGGACATC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02071.hp2 HG03041.hp2 HG00408.hp1 HG02071.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0015 a0001c0003 a0002c0015	a0001c0003t0003 a0002c0015t0002 a0001c0003t0003 a0002c0015t0002	a0001c0003t0003g0187 a0002c0015t0002g0127 a0002c0015t0002g0128 a0001c0003t0003g0187 a0002c0015t0002g0127 a0002c0015t0002g0128	3	214	0.0140	-70	c.627 others(86): Show c.627-1010_627-941delGATGTCCTGTGTTTTCTTTCACTTTCTTC AAGGCGGTTTGGGATTTGGCTCCGCTGGCCGCTGTGCTGGT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	6/15			chr17	TogoVar
SLC3A1_chr2_44270480_44326494	44286575	CCTGTGAC others(63): Show CCTGTGACGGTGAGCTGTGCGGTGTCTGTGACGGTGAGCTGTGCGGTGTC TGTGACTGAGCTGTGCACTGT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0122 a0001c0003t0011g0122	1	354	0.0028	-70	c.891 others(85): Show c.891+466_891+535delTCTGTGACTGAGCTGTGCACTGTCTGTGAC GGTGAGCTGTGCGGTGTCTGTGACGGTGAGCTGTGCGGTG	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A3_chr5_465456_529449	474725	AGGAGAGA others(63): Show AGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGC GGAGAGGGGTTAGGCGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp2 HG01943.hp1 others(3): Show HG01192.hp2 HG01934.hp2 HG01943.hp1 HG02300.hp2 NA18747.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0028 a0001c0001 a0001c0009 a0001c0028	a0001c0001t0001 a0001c0001t0004 a0001c0009t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0009t0009 a0001c0028t0011	a0001c0001t0001g0079 a0001c0001t0004g0027 a0001c0001t0004g0084 others(3): Show a0001c0001t0001g0079 a0001c0001t0004g0027 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0009t0009g0081 a0001c0028t0011g0085	6	218	0.0275	-70	c.250 others(86): Show c.2501+88_2501+157delCTCCCCGCCTAACCCCTCTCCGCAGCTCC TCTCCCTCCAGGTCTCCGCCTCGCGCGCGCTGTCTCTCTCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(63): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01993.hp2 others(1): Show HG00735.hp1 HG01167.hp1 HG01993.hp2 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0096 a0002c0002t0002g0098 others(1): Show a0002c0002t0002g0034 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0148	4	218	0.0184	-70	c.212 others(87): Show c.212-3376_212-3307delTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49834367	GTGTATAT others(63): Show GTGTATATATATATATACTGTGTATATATATATACTGTGTATATATATAT ACTGTATATATATACTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG03195.hp1 others(1): Show HG01243.hp2 HG02451.hp2 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0038 a0001c0003t0001 a0001c0003t0038	a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0154 others(1): Show a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0154 a0001c0003t0038g0125	4	360	0.0111	-70	c.290 others(87): Show c.290-5172_290-5103delGTATATATATATATACTGTGTATATATA TATACTGTGTATATATATATACTGTATATATATACTGTATAT	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLIT1_chr10_96993038_97190959	97141705	TTGTATTG others(63): Show TTGTATTGTACTGTATTGTATTGTACTGTATTGTATCGTATCGTATCGTA TCGTATCGTATTGTATCGTAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG03579.hp2 others(3): Show HG02280.hp2 HG02886.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0005t0002 a0001c0006t0014	a0001c0001t0002g0016 a0001c0001t0003g0017 a0001c0001t0004g0018 others(3): Show a0001c0001t0002g0016 a0001c0001t0003g0017 a0001c0001t0004g0018 a0001c0001t0004g0063 a0001c0005t0002g0020 a0001c0006t0014g0213	6	256	0.0234	-70	c.413 others(89): Show c.413+16043_413+16112delGTACGATACAATACGATACGATACGA TACGATACGATACAATACAGTACAATACAATACAGTACAATACA	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	4/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20472246	CTATATAT others(63): Show CTATATATAGATCTATATATAGATATATATCTATATATATAGATATATAG ATATATAGATCTATATATAGA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 NA20129.hp2 HG02976.hp2 HG03209.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0017 a0001c0001 a0001c0011 a0003c0017	a0001c0001t0024 a0001c0011t0080 a0003c0017t0001 a0001c0001t0024 a0001c0011t0080 a0003c0017t0001	a0001c0001t0024g0010 a0001c0011t0080g0093 a0003c0017t0001g0040 a0001c0001t0024g0010 a0001c0011t0080g0093 a0003c0017t0001g0040	3	230	0.0130	-70	c.467 others(87): Show c.467+4432_467+4501delGATCTATATATAGATATATATCTATATA TATAGATATATAGATATATAGATCTATATATAGATATATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAP1_chr6_70662883_70867003	70864572	AGATGCCC others(63): Show AGATGCCCCACAATCAGCTAACGCAATTTCCTTTGCTCAGTGATCTCTTG AAAGGAAGCAGGTCACAGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	306	0.0033	-70	c.42 others(81): Show c.4239_*4308delGATGCCCCACAATCAGCTAACGCAATTTCCTTTG CTCAGTGATCTCTTGAAAGGAAGCAGGTCACAGCTG	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding		2570		chr6	TogoVar
SMIM14_chr4_39541336_39643865	39619458	ATATCAAT others(63): Show ATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTCTAT ATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp1 HG02451.hp2 others(11): Show HG00438.hp1 HG01109.hp1 HG02451.hp2 HG02572.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03579.hp1 NA19043.hp1 NA19054.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0024 a0001c0001t0044	a0001c0001t0003g0260 a0001c0001t0007g0261 a0001c0001t0007g0262 others(11): Show a0001c0001t0003g0260 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0296 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0016g0089 a0001c0001t0016g0090 a0001c0001t0024g0080 a0001c0001t0024g0252 a0001c0001t0044g0232	14	344	0.0407	-70	c.-35 others(89): Show c.-35-14348_-35-14279delGAATAAATTATATTTATTGATATAGA ATAAATTATATTTATTGATATAGAATAAATTATATTTATTGATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(63): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00735.hp1 others(15): Show HG00323.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01109.hp2 HG02040.hp2 HG02080.hp2 HG02148.hp1 HG02155.hp2 HG02615.hp1 HG02717.hp2 HG02895.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 NA18947.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0034 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0034 a0001c0001t0002g0055 a0001c0001t0002g0088 a0001c0001t0002g0129 a0001c0001t0003g0014 a0001c0001t0003g0041 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0006g0122	18	380	0.0474	-70	c.17 others(81): Show c.1716_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMYD3_chr1_245744347_246512279	246273054	ATTTGTTG others(63): Show ATTTGTTGTCATACAACTCTTCCTAATGCCCTCCTATAATCCTTTTTCAT TCTGTATGATTCATAATAATG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(2): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 others(6): Show a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122	9	150	0.0600	-70	c.531 others(89): Show c.531+54077_531+54146delCATTATTATGAATCATACAGAATGAA AAAGGATTATAGGAGGGCATTAGGAAGAGTTGTATGACAACAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1222457	AGCTGGAG others(63): Show AGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04184.hp1 HG02451.hp1 HG04184.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0002 a0006c0010t0001 a0001c0002t0002 a0006c0010t0001	a0001c0002t0002g0076 a0006c0010t0001g0012 a0001c0002t0002g0076 a0006c0010t0001g0012	2	190	0.0105	-70	c.719 others(89): Show c.719+13259_719+13328delTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222645	GGCGTCTC others(63): Show GGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0122 a0012c0019t0001g0122	1	190	0.0053	-70	c.719 others(89): Show c.719+13439_719+13508delGTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1223205	GGCGTCTC others(63): Show GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	190	0.0053	-70	c.719 others(89): Show c.719+14027_719+14096delAGTGGTGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX18_chr5_54512759_54551586	54514108	AATTTATA others(63): Show AATTTATATAATATATAAATATATATGATATATATAAATTTATATAATAT ATAAATATATATGATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00597.hp2 others(86): Show HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19001.hp1 NA19010.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0003c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0002t0022 a0001c0002t0039 a0001c0002t0043 a0001c0003t0006 a0001c0004t0045 a0001c0006t0001 a0001c0006t0008 a0001c0012t0002 a0003c0013t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0011 others(55): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0165 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0002g0149 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0008g0004 a0001c0002t0008g0011 a0001c0002t0008g0015 a0001c0002t0008g0144 a0001c0002t0008g0147 a0001c0002t0016g0002 a0001c0002t0016g0004 a0001c0002t0016g0137 a0001c0002t0022g0187 a0001c0002t0022g0188 a0001c0002t0022g0190 a0001c0002t0039g0002 a0001c0002t0043g0002 a0001c0003t0006g0020 a0001c0004t0045g0003 a0001c0006t0001g0011 a0001c0006t0001g0030 a0001c0006t0001g0048 a0001c0006t0001g0167 a0001c0006t0008g0011 a0001c0012t0002g0001 a0003c0013t0001g0004	89	390	0.2282	-70	c.-38 others(81): Show c.-3844_-3775delATTTATATAATATATAAATATATATGATATATAT AAATTTATATAATATATAAATATATATGATATATAT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3650		chr5	TogoVar
SORCS2_chr4_7187538_7747827	7457419	GCAGGTGT others(63): Show GCAGGTGTGAGCTGCAGCCAGAGGGCCTGGCTCACACCAGGGAGCGTGCC CCAGTGAACACTGCAAGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02922.hp1 others(3): Show HG02280.hp1 HG02572.hp2 HG02922.hp1 HG03453.hp2 HG03579.hp2 NA19240.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0017	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0005c0008 a0009c0025 a0017c0054	a0001c0001t0013 a0001c0002t0001 a0001c0005t0014 others(3): Show a0001c0001t0013 a0001c0002t0001 a0001c0005t0014 a0005c0008t0001 a0009c0025t0031 a0017c0054t0022	a0001c0001t0013g0125 a0001c0002t0001g0123 a0001c0005t0014g0102 others(3): Show a0001c0001t0013g0125 a0001c0002t0001g0123 a0001c0005t0014g0102 a0005c0008t0001g0029 a0009c0025t0031g0025 a0017c0054t0022g0113	6	168	0.0357	-70	c.548 others(89): Show c.548+61076_548+61145delTGCAGCCAGAGGGCCTGGCTCACACC AGGGAGCGTGCCCCAGTGAACACTGCAAGCTGACAGGTGTGAGC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706379	TCTGGGCA others(63): Show TCTGGGCAGGGATGAGGCTGGGCTCTGCCTGGACAGAGATGAGGCTGGGC TCTGTCTGGGCAGGGATGAGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp1 NA18906.hp1 HG02647.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0027 a0001c0010t0073 a0001c0010t0076 a0001c0010t0027 a0001c0010t0073 a0001c0010t0076	a0001c0010t0027g0105 a0001c0010t0073g0167 a0001c0010t0076g0163 a0001c0010t0027g0105 a0001c0010t0073g0167 a0001c0010t0076g0163	3	168	0.0179	-70	c.186 others(89): Show c.1868+2147_1868+2216delTGTCTGGGCAGGGATGAGGCTGGGCA GGGATGAGGCTGGGCTCTGCCTGGACAGAGATGAGGCTGGGCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46183834	GGGAGACC others(63): Show GGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGG GGGAGGAGACCAGCCTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp1 others(57): Show HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp1 NA18954.hp2 NA18969.hp2 NA18970.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0010 a0003c0004 others(1): Show a0001c0001 a0001c0010 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0035 others(5): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0010t0001 a0003c0004t0012 a0004c0005t0012	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0013g0088 a0001c0001t0013g0101 a0001c0001t0013g0102 a0001c0001t0035g0087 a0001c0001t0036g0100 a0001c0001t0038g0108 a0001c0010t0001g0084 a0003c0004t0012g0104 a0004c0005t0012g0093 a0004c0005t0012g0096	60	251	0.2390	-70	c.-95 others(86): Show c.-958-130_-958-61delTCACCAGGCTGGTCTCCTCCCCCAGGCTG ATCTCCCCGCCCAGGCTGGTCTCCCCCGCAGGCTGGTCTCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	1/4			chr21	TogoVar
SRGAP1_chr12_63839700_64167217	63948942	CCATATAT others(63): Show CCATATATATATTCCATATATATATTTTCCATATATATATATTCCATATA TGTATTTTCCATATATATATT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0089 a0001c0003t0089	a0001c0003t0089g0160 a0001c0003t0089g0160	1	170	0.0059	-70	c.68- others(87): Show c.68-34997_68-34928delATATTCCATATATATATTTTCCATATAT ATATATTCCATATATGTATTTTCCATATATATATTCATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121239212	ATATATAT others(63): Show ATATATATATATATATACTATATATATATATATACTATATATATATATAT ATATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG01928.hp2 others(11): Show HG00280.hp1 HG01496.hp1 HG01928.hp2 HG02622.hp2 HG02735.hp2 HG02809.hp1 HG02897.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18994.hp2 NA19000.hp1 NA19085.hp1 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0001c0001t0011 a0001c0001t0049 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0049 a0009c0013t0007	a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0201 a0001c0001t0001g0252 a0001c0001t0011g0241 a0001c0001t0049g0145 a0009c0013t0007g0246	14	274	0.0511	-70	c.68- others(87): Show c.68-45574_68-45505delCTATATATATATATATACTATATATATA TATATATATACTATATATATATATACTATATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372898	CCTTTCTT others(63): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp2 HG01981.hp1 others(3): Show HG00673.hp1 HG01257.hp2 HG01981.hp1 HG02523.hp1 HG02572.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0002 a0001c0002t0005 a0001c0004t0003 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0004t0003 a0001c0005t0001	a0001c0002t0002g0004 a0001c0002t0002g0068 a0001c0002t0002g0069 others(3): Show a0001c0002t0002g0004 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0005g0078 a0001c0004t0003g0056 a0001c0005t0001g0006	6	182	0.0330	-70	c.424 others(89): Show c.424-11049_424-10980delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRMS_chr20_63533489_63552749	63535750	CCACCTGG others(63): Show CCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCA CCTGGCCTCCCGCCCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02071.hp2 others(25): Show HG01109.hp1 HG01891.hp1 HG02071.hp2 HG02109.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp2 NA18522.hp2 NA18950.hp2 NA19070.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0018 a0021	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0004c0005 a0006c0008 a0018c0020 a0021c0027	a0001c0001t0001 a0001c0002t0003 a0001c0009t0015 others(11): Show a0001c0001t0001 a0001c0002t0003 a0001c0009t0015 a0002c0003t0004 a0002c0003t0013 a0002c0003t0014 a0002c0003t0022 a0002c0003t0028 a0002c0003t0036 a0004c0005t0006 a0004c0005t0038 a0006c0008t0010 a0018c0020t0030 a0021c0027t0042	a0001c0001t0001g0001 a0001c0002t0003g0082 a0001c0009t0015g0027 others(16): Show a0001c0001t0001g0001 a0001c0002t0003g0082 a0001c0009t0015g0027 a0002c0003t0004g0004 a0002c0003t0004g0009 a0002c0003t0004g0051 a0002c0003t0013g0016 a0002c0003t0014g0024 a0002c0003t0014g0047 a0002c0003t0022g0045 a0002c0003t0028g0044 a0002c0003t0036g0048 a0004c0005t0006g0005 a0004c0005t0006g0055 a0004c0005t0038g0059 a0006c0008t0010g0050 a0006c0008t0010g0064 a0018c0020t0030g0062 a0021c0027t0042g0109	28	356	0.0787	-70	c.49 others(81): Show c.4998_*5067delAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCG GGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2738		chr20	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277547	TATATATA others(63): Show TATATATATATATATATATATACACACACACATATGTTTATGTGTATATA TATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03579.hp1 HG00738.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0001 a0001c0001t0025 a0002c0002t0001	a0001c0001t0025g0043 a0002c0002t0001g0022 a0001c0001t0025g0043 a0002c0002t0001g0022	2	102	0.0196	-70	c.19- others(87): Show c.19-36256_19-36187delTATATATATATATATATATACACACACA CATATGTTTATGTGTATATATATATATATATATATACACACA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STIM1_chr11_3850664_4098208	3895614	CTTTCTTT others(63): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01934.hp2 HG02027.hp1 others(14): Show HG01358.hp2 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02300.hp1 HG03688.hp2 NA18612.hp2 NA18940.hp1 NA18949.hp1 NA18964.hp1 NA18982.hp1 NA18991.hp2 NA18999.hp2 NA19058.hp1 NA19063.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0009t0031	a0001c0001t0002g0049 a0001c0001t0002g0077 a0001c0001t0002g0082 others(14): Show a0001c0001t0002g0049 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0261 a0001c0001t0004g0035 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0065 a0001c0001t0004g0075 a0001c0001t0004g0088 a0001c0001t0007g0081 a0001c0001t0013g0167 a0001c0002t0001g0063 a0001c0002t0002g0032 a0001c0009t0031g0029	17	300	0.0567	-70	c.139 others(89): Show c.139+39207_139+39276delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895697	TCTTTCTT others(63): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT CCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0210 a0001c0001t0015g0298 a0001c0001t0002g0210 a0001c0001t0015g0298	2	300	0.0067	-70	c.139 others(89): Show c.139+39292_139+39361delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895733	TCTTTTTC others(63): Show TCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	300	0.0033	-70	c.139 others(89): Show c.139+39329_139+39398delTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK32B_chr4_5046480_5505989	5115589	TGTAACCT others(63): Show TGTAACCTGGGCAGTTATCCACACAGGGAAACCAGTCCCAGTGCAGAGAA GCTCCTGACCCCAGCCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	170	0.0059	-70	c.53- others(87): Show c.53-24315_53-24246delGTAACCTGGGCAGTTATCCACACAGGGA AACCAGTCCCAGTGCAGAGAAGCTCCTGACCCCAGCCCAGGG	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11			chr4	TogoVar
STON1_chr2_48525154_48603513	48564410	CTTCTTCT others(63): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp1 NA18906.hp1 HG01884.hp2 HG03195.hp1 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0006 a0001c0003 a0005c0006	a0001c0003t0002 a0005c0006t0011 a0001c0003t0002 a0005c0006t0011	a0001c0003t0002g0183 a0005c0006t0011g0212 a0005c0006t0011g0301 a0001c0003t0002g0183 a0005c0006t0011g0212 a0005c0006t0011g0301	3	376	0.0080	-70	c.-47 others(89): Show c.-47-16105_-47-16036delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STXBP3_chr1_108741674_108814523	108771558	GATATATA others(63): Show GATATATAAATATATATGATATATATCTATATATATCATATATAAATATA TATGATATATATCTATATATC	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18966.hp1 NA18952.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0128 a0001c0001t0002g0138	2	334	0.0060	-70	c.439 others(86): Show c.439-1049_439-980delATATCTATATATCATATATAAATATATAT GATATATATCTATATATATCATATATAAATATATATGATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SV2B_chr15_91095257_91307565	91304256	GAGACAGA others(63): Show GAGACAGAGAAAGAGATGAAGAGAGAGAGGGAAGGAAGGACAGAGAGAAA AAAAGAGGGAGAGAGAGAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01257.hp1 HG01258.hp1 others(10): Show HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG02572.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03195.hp1 HG03540.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0004c0013	a0001c0001t0021 a0001c0002t0002 a0001c0006t0004 others(5): Show a0001c0001t0021 a0001c0002t0002 a0001c0006t0004 a0001c0006t0006 a0001c0006t0029 a0001c0007t0002 a0001c0009t0033 a0004c0013t0002	a0001c0001t0021g0150 a0001c0001t0021g0151 a0001c0002t0002g0175 others(10): Show a0001c0001t0021g0150 a0001c0001t0021g0151 a0001c0002t0002g0175 a0001c0006t0004g0017 a0001c0006t0006g0091 a0001c0006t0029g0191 a0001c0007t0002g0040 a0001c0007t0002g0060 a0001c0007t0002g0080 a0001c0007t0002g0185 a0001c0009t0033g0069 a0004c0013t0002g0192 a0004c0013t0002g0193	13	214	0.0608	-70	c.11 others(83): Show c.11705_*11774delAGACAGAGAAAGAGATGAAGAGAGAGAGGGAA GGAAGGACAGAGAGAAAAAAAGAGGGAGAGAGAGAAAA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding		1692		chr15	TogoVar
SWAP70_chr11_9659077_9757993	9671122	TAAATATA others(63): Show TAAATATATTTATAAATATAAATATAAAAATATATAAAATATATTTATAA ATATAAATATAAAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03195.hp2 NA19043.hp2 HG00673.hp2 HG03195.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0008 a0001c0002t0002 a0002c0001t0008	a0001c0002t0002g0182 a0002c0001t0008g0097 a0002c0001t0008g0098 a0001c0002t0002g0182 a0002c0001t0008g0097 a0002c0001t0008g0098	3	294	0.0102	-70	c.99+ others(85): Show c.99+6987_99+7056delATATATTTATAAATATAAATATAAAAATAT ATAAAATATATTTATAAATATAAATATAAAAATATATAAA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYNPR_chr3_63273308_63621924	63595763	ATATATAA others(63): Show ATATATAATTTTATATATATATAGTTATATATATATAGTTATATATATAT ATAGTTTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0125 a0001c0001t0007g0125	1	246	0.0041	-70	c.409 others(89): Show c.409-13355_409-13286delATTTTATATATATATAGTTATATATA TATAGTTATATATATATATAGTTTTATATATATATAGTTATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT3_chr19_50616977_50644881	50619900	TTTATTAT others(63): Show TTTATTATTATTATTATTATTATTATTATTATTATTATACCTGGATAATT TTATTATTATTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02970.hp1 HG02976.hp1 others(2): Show HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0106 a0001c0001t0004g0153 a0001c0001t0004g0154 others(2): Show a0001c0001t0004g0106 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0169 a0001c0001t0005g0222	5	388	0.0129	-70	c.25 others(81): Show c.2515_*2584delTAATAATAATAATAATAATAAAATTATCCAGGTA TAATAATAATAATAATAATAATAATAATAATAATAA	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding		2076		chr19	TogoVar
TBC1D2_chr9_98194011_98260649	98214198	GTTGATTT others(63): Show GTTGATTTGGAAATGAAGAACATCACATGTGCAAGCGATGCTGCAGCAAG GATGACTCCGACGTGGCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00735.hp1 others(60): Show HG00597.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG02074.hp2 HG02165.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 NA18612.hp2 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0019 a0020 a0021 a0024	a0001c0001 a0002c0003 a0002c0007 others(5): Show a0001c0001 a0002c0003 a0002c0007 a0004c0005 a0019c0031 a0020c0032 a0021c0028 a0024c0022	a0001c0001t0001 a0002c0003t0001 a0002c0007t0001 others(5): Show a0001c0001t0001 a0002c0003t0001 a0002c0007t0001 a0004c0005t0001 a0019c0031t0001 a0020c0032t0001 a0021c0028t0001 a0024c0022t0001	a0001c0001t0001g0011 a0001c0001t0001g0056 a0001c0001t0001g0073 others(55): Show a0001c0001t0001g0011 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0209 a0001c0001t0001g0213 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0224 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0231 a0002c0003t0001g0233 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0242 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0261 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0270 a0002c0003t0001g0326 a0002c0007t0001g0239 a0004c0005t0001g0078 a0004c0005t0001g0278 a0019c0031t0001g0257 a0020c0032t0001g0234 a0021c0028t0001g0243 a0024c0022t0001g0027	63	366	0.1721	-70	c.137 others(88): Show c.1375-1050_1375-981delTCTGGCCACGTCGGAGTCATCCTTGCT GCAGCATCGCTTGCACATGTGATGTTCTTCATTTCCAAATCAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	6/12			chr9	TogoVar
TBC1D2_chr9_98194011_98260649	98214268	ATTGATTT others(63): Show ATTGATTTGGAAATGAAGAACATCACATGTGCAAGCGATGCTGCAGCAAG GATGACTCCGACGTGGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00621.hp1 others(71): Show HG00099.hp1 HG00140.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG04199.hp1 NA18906.hp2 NA18948.hp1 NA18952.hp2 NA18959.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19080.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0014 a0016 a0018 a0023	a0001c0001 a0001c0002 a0002c0003 others(13): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0009 a0003c0034 a0004c0005 a0005c0010 a0005c0015 a0006c0016 a0007c0017 a0011c0024 a0014c0025 a0016c0021 a0018c0029 a0023c0023	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0003c0004t0003 a0003c0009t0001 a0003c0034t0001 a0004c0005t0001 a0005c0010t0001 a0005c0015t0001 a0006c0016t0001 a0007c0017t0001 a0011c0024t0001 a0014c0025t0001 a0016c0021t0001 a0018c0029t0001 a0023c0023t0001	a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0077 others(70): Show a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0181 a0001c0001t0001g0271 a0001c0001t0001g0325 a0001c0002t0001g0103 a0002c0003t0001g0217 a0002c0003t0001g0225 a0002c0003t0001g0229 a0002c0003t0001g0249 a0002c0003t0001g0264 a0002c0003t0001g0266 a0002c0003t0001g0273 a0003c0004t0001g0045 a0003c0004t0001g0057 a0003c0004t0001g0102 a0003c0004t0001g0283 a0003c0004t0001g0287 a0003c0004t0001g0289 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0296 a0003c0004t0001g0320 a0003c0004t0001g0321 a0003c0004t0001g0322 a0003c0004t0001g0323 a0003c0004t0003g0046 a0003c0009t0001g0033 a0003c0009t0001g0036 a0003c0009t0001g0040 a0003c0034t0001g0047 a0004c0005t0001g0079 a0004c0005t0001g0276 a0004c0005t0001g0279 a0004c0005t0001g0280 a0004c0005t0001g0281 a0005c0010t0001g0034 a0005c0010t0001g0035 a0005c0010t0001g0037 a0005c0010t0001g0038 a0005c0015t0001g0030 a0005c0015t0001g0031 a0006c0016t0001g0048 a0006c0016t0001g0049 a0007c0017t0001g0157 a0007c0017t0001g0162 a0011c0024t0001g0080 a0014c0025t0001g0039 a0016c0021t0001g0022 a0018c0029t0001g0274 a0023c0023t0001g0028	74	366	0.2022	-70	c.137 others(89): Show c.1375-1120_1375-1051delCCTGGCCACGTCGGAGTCATCCTTGC TGCAGCATCGCTTGCACATGTGATGTTCTTCATTTCCAAATCAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	6/12			chr9	TogoVar

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