Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNFT2_chr12_116733315_116858631	116841794	AATATATA others(95): Show AATATATATATAAATATATATATAAAAATATATATATATAAATATATATA TAAATATATATAAAAATATATATATAAATATATATATAAATATATATAAA AAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02615.hp1 others(6): Show HG00741.hp1 HG01891.hp2 HG02615.hp1 HG02922.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0013 a0001c0018	a0001c0001t0002 a0001c0004t0053 a0001c0005t0013 others(4): Show a0001c0001t0002 a0001c0004t0053 a0001c0005t0013 a0001c0005t0055 a0001c0006t0051 a0001c0013t0013 a0001c0018t0056	a0001c0001t0002g0105 a0001c0004t0053g0015 a0001c0005t0013g0006 others(6): Show a0001c0001t0002g0105 a0001c0004t0053g0015 a0001c0005t0013g0006 a0001c0005t0013g0186 a0001c0005t0055g0021 a0001c0006t0051g0013 a0001c0013t0013g0046 a0001c0013t0013g0159 a0001c0018t0056g0058	9	257	0.0350	-102	c.120 others(19): Show c.1200+5574_1200+5675del	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SARDH_chr9_133658560_133743352	133705269	GAATTACC others(95): Show GAATTACCACCTGCCCCATCTGCCCTCACCCTGAGAACCCCCATCTATAG AATTACCACCTGCCCCATCTGCCCTCACCCTGAGAACCCCCATCTATAGA ATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(70): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01517.hp2 HG01943.hp1 HG02074.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG03017.hp2 HG03139.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp2 NA18960.hp2 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19059.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(10): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0016 a0001c0024 a0001c0027 a0001c0048 a0001c0055 a0002c0002 a0002c0014 a0002c0020 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0011t0001 a0001c0016t0001 a0001c0016t0002 a0001c0024t0001 a0001c0027t0001 a0001c0048t0001 a0001c0055t0001 a0002c0002t0002 a0002c0014t0001 a0002c0020t0001 a0003c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0063 others(70): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0072 a0001c0001t0002g0178 a0001c0001t0002g0249 a0001c0001t0005g0198 a0001c0006t0001g0211 a0001c0006t0001g0214 a0001c0006t0001g0215 a0001c0006t0002g0152 a0001c0006t0002g0210 a0001c0007t0001g0075 a0001c0007t0001g0079 a0001c0007t0001g0158 a0001c0007t0001g0161 a0001c0007t0001g0166 a0001c0007t0001g0216 a0001c0011t0001g0102 a0001c0016t0001g0247 a0001c0016t0002g0073 a0001c0016t0002g0172 a0001c0016t0002g0183 a0001c0024t0001g0096 a0001c0024t0001g0122 a0001c0027t0001g0103 a0001c0027t0001g0106 a0001c0048t0001g0242 a0001c0055t0001g0154 a0002c0002t0002g0129 a0002c0002t0002g0167 a0002c0014t0001g0185 a0002c0014t0001g0199 a0002c0020t0001g0179 a0003c0003t0001g0191	73	260	0.2808	-102	c.147 others(17): Show c.1471-340_1471-239del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	11/20			chr9	TogoVar
SCAMP5_chr15_74990563_75026495	74990984	CTCTTTCT others(95): Show CTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0052 a0001c0004t0004g0052	1	264	0.0038	-102	c.-47 others(11): Show c.-4737_-4636del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4578		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(95): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02155.hp1 HG02165.hp2 others(2): Show HG02083.hp1 HG02155.hp1 HG02165.hp2 NA18963.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0230 a0001c0001t0003g0254 a0001c0001t0003g0003 a0001c0001t0003g0230 a0001c0001t0003g0254	5	299	0.0167	-102	c.-47 others(11): Show c.-4725_-4624del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCGB1C2_chr17_132569_144067	140856	CTGGTGAG others(95): Show CTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGG GGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGG CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	395	0.0025	-102	c.19 others(11): Show c.1915_*2016del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1790		chr17	TogoVar
SCGB1C2_chr17_132569_144067	140949	AGGGGGGC others(95): Show AGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(121): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0003g0005	124	140	0.8857	-102	c.20 others(11): Show c.2008_*2109del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1883		chr17	TogoVar
SDK1_chr7_3296252_4274000	3976238	AGGGTCCC others(95): Show AGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCAC TGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0006 a0001c0064t0006	a0001c0064t0006g0111 a0001c0064t0006g0111	1	104	0.0096	-102	c.199 others(19): Show c.1994+1719_1994+1820del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4216960	AGAGCACC others(95): Show AGAGCACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCAGGCCACC CGGAGCACCACACCACCCGGAGCACCAGGCCACCCGGAGCACCACACCAC CCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00639.hp1 others(39): Show HG00408.hp2 HG00558.hp2 HG00639.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp2 HG01978.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0013 a0015 a0018 a0019 a0021 a0022 a0025 a0026 a0029 a0031 a0035	a0001c0004 a0001c0010 a0001c0011 others(38): Show a0001c0004 a0001c0010 a0001c0011 a0001c0017 a0001c0025 a0001c0026 a0001c0031 a0001c0048 a0001c0049 a0001c0059 a0001c0061 a0001c0064 a0001c0067 a0001c0072 a0001c0088 a0001c0092 a0001c0093 a0001c0095 a0002c0013 a0002c0042 a0002c0043 a0002c0053 a0002c0066 a0003c0001 a0003c0033 a0005c0056 a0006c0016 a0009c0019 a0009c0020 a0011c0021 a0013c0070 a0015c0074 a0018c0024 a0019c0050 a0021c0068 a0022c0094 a0025c0081 a0026c0028 a0029c0084 a0031c0069 a0035c0073	a0001c0004t0001 a0001c0010t0002 a0001c0011t0008 others(38): Show a0001c0004t0001 a0001c0010t0002 a0001c0011t0008 a0001c0017t0011 a0001c0025t0024 a0001c0026t0002 a0001c0031t0001 a0001c0048t0001 a0001c0049t0036 a0001c0059t0027 a0001c0061t0031 a0001c0064t0006 a0001c0067t0068 a0001c0072t0065 a0001c0088t0009 a0001c0092t0048 a0001c0093t0006 a0001c0095t0029 a0002c0013t0015 a0002c0042t0002 a0002c0043t0035 a0002c0053t0067 a0002c0066t0023 a0003c0001t0063 a0003c0033t0002 a0005c0056t0006 a0006c0016t0001 a0009c0019t0074 a0009c0020t0070 a0011c0021t0073 a0013c0070t0026 a0015c0074t0042 a0018c0024t0061 a0019c0050t0019 a0021c0068t0014 a0022c0094t0025 a0025c0081t0008 a0026c0028t0049 a0029c0084t0045 a0031c0069t0069 a0035c0073t0001	a0001c0004t0001g0039 a0001c0010t0002g0085 a0001c0011t0008g0028 others(39): Show a0001c0004t0001g0039 a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0031t0001g0018 a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0064t0006g0111 a0001c0067t0068g0001 a0001c0072t0065g0027 a0001c0088t0009g0048 a0001c0092t0048g0057 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0013t0015g0024 a0002c0042t0002g0105 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0066t0023g0088 a0003c0001t0063g0033 a0003c0033t0002g0103 a0005c0056t0006g0097 a0006c0016t0001g0114 a0009c0019t0074g0006 a0009c0020t0070g0009 a0011c0021t0073g0007 a0013c0070t0026g0112 a0015c0074t0042g0081 a0018c0024t0061g0013 a0019c0050t0019g0092 a0021c0068t0014g0014 a0022c0094t0025g0049 a0025c0081t0008g0075 a0026c0028t0049g0035 a0029c0084t0045g0011 a0031c0069t0069g0064 a0035c0073t0001g0016	42	112	0.3750	-102	c.554 others(19): Show c.5540-3038_5540-2937del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SENP1_chr12_48037897_48111079	48056689	ATATTATT others(95): Show ATATTATTTAATATATTACATATTACATATATAAATATATTATTTAATAT ATTACATATTACATATATAAATATATTTAACATATTACATATTACATATA TAT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	391	0.0026	-102	c.140 others(19): Show c.1407+6919_1407+7020del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SLC37A1_chr21_42508852_42586426	42570076	TCATGCGA others(95): Show TCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGCTGTT GCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCAT TGC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18961.hp1 NA19001.hp1 others(1): Show HG02074.hp1 NA18961.hp1 NA19001.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0073 a0001c0001t0007g0005 a0001c0001t0001g0073 a0001c0001t0007g0005	4	275	0.0145	-102	c.142 others(19): Show c.1423+1643_1423+1744del	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570180	ATGTGACA others(95): Show ATGTGACACATGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGC CATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGC CGT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02615.hp1 HG02886.hp1 others(3): Show HG01358.hp2 HG02615.hp1 HG02886.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0018 a0004c0010 others(2): Show a0001c0001 a0001c0018 a0004c0010 a0004c0011 a0005c0006	a0001c0001t0006 a0001c0018t0005 a0004c0010t0035 others(2): Show a0001c0001t0006 a0001c0018t0005 a0004c0010t0035 a0004c0011t0028 a0005c0006t0037	a0001c0001t0006g0215 a0001c0018t0005g0087 a0004c0010t0035g0217 others(3): Show a0001c0001t0006g0215 a0001c0018t0005g0087 a0004c0010t0035g0217 a0004c0011t0028g0180 a0004c0011t0028g0181 a0005c0006t0037g0076	6	354	0.0169	-102	c.142 others(19): Show c.1423+1746_1423+1847del	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC39A14_chr8_22362278_22427736	22396435	AGAGAGAG others(95): Show AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG GGG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0163 a0001c0003t0010g0163	1	317	0.0032	-102	c.-15 others(17): Show c.-15-8259_-15-8158del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396437	AGAGAGAG others(95): Show AGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGG GGG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02622.hp2 HG02809.hp1 others(5): Show HG01978.hp2 HG02622.hp2 HG02809.hp1 HG03139.hp1 NA18942.hp1 NA18966.hp1 NA18981.hp1 NA19009.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0007 a0002c0006 others(1): Show a0001c0003 a0001c0007 a0002c0006 a0003c0001	a0001c0003t0005 a0001c0007t0006 a0002c0006t0015 others(1): Show a0001c0003t0005 a0001c0007t0006 a0002c0006t0015 a0003c0001t0001	a0001c0003t0005g0230 a0001c0007t0006g0226 a0002c0006t0015g0154 others(5): Show a0001c0003t0005g0230 a0001c0007t0006g0226 a0002c0006t0015g0154 a0003c0001t0001g0109 a0003c0001t0001g0121 a0003c0001t0001g0132 a0003c0001t0001g0138 a0003c0001t0001g0160	8	313	0.0256	-102	c.-15 others(17): Show c.-15-8247_-15-8146del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC8A2_chr19_47423017_47476893	47474096	TGATTCCT others(95): Show TGATTCCTTCTCCTGGTAATACAGAACGGAGCACAGGAGGCCGGGCTCAG TGACTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATC ACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	314	0.0032	-102	c.-24 others(11): Show c.-2426_-2325del	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding		2204		chr19	TogoVar
SLC9A8_chr20_49807828_49897242	49834333	GTATATAT others(95): Show GTATATATATATATACTGTATATATATATATACTGTGTATATATATATAT ACTGTGTATATATATATACTGTGTATATATATATACTGTATATATATACT GTA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02630.hp1 HG02895.hp1 others(3): Show HG02155.hp2 HG02630.hp1 HG02895.hp1 HG03540.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 a0001c0001t0001 a0001c0001t0007 a0001c0001t0033	a0001c0001t0001g0219 a0001c0001t0007g0323 a0001c0001t0007g0324 others(3): Show a0001c0001t0001g0219 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0033g0322	6	314	0.0191	-102	c.290 others(17): Show c.290-5178_290-5077del	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMOC2_chr6_168436184_168672992	168561454	GCATTCTT others(95): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02135.hp1 NA18990.hp2 HG01081.hp1 HG02135.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0154	3	178	0.0169	-102	c.637 others(19): Show c.637+12252_637+12353del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561922	GCATTCTT others(95): Show GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCT CAC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	177	0.0056	-102	c.637 others(19): Show c.637+12720_637+12821del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593210	CGCCGAGC others(95): Show CGCCGAGCTCCTCCTCCTTCCTGAGGACTCACGGGCGTCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0002 a0001c0002t0005g0069 a0001c0002t0002g0002 a0001c0002t0005g0069	2	143	0.0140	-102	c.638 others(17): Show c.638-5582_638-5481del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594548	TGAGCTCC others(95): Show TGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATG GCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	70	0.0143	-102	c.638 others(17): Show c.638-4243_638-4142del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG1_chr8_49906407_50801692	50734772	TATATATA others(95): Show TATATATAGATATCTATATATATGGACATATATATAGATATCTATATATA TGGACATATATATATCTATATATATGGACATATATATATCTATATATATG GAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02809.hp2 HG02976.hp2 others(3): Show HG01071.hp2 HG02809.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0030 a0001c0001t0035 others(2): Show a0001c0001t0013 a0001c0001t0030 a0001c0001t0035 a0001c0001t0048 a0001c0002t0021	a0001c0001t0013g0009 a0001c0001t0013g0067 a0001c0001t0030g0053 others(3): Show a0001c0001t0013g0009 a0001c0001t0013g0067 a0001c0001t0030g0053 a0001c0001t0035g0031 a0001c0001t0048g0105 a0001c0002t0021g0073	6	101	0.0594	-102	c.128 others(21): Show c.1285-17221_1285-17120del	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1106957	CACGTGCT others(95): Show CACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTG GACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAG TGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(42): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp1 HG00735.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 HG03927.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0012	a0001c0001 a0002c0003 a0002c0005 others(9): Show a0001c0001 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0004c0004 a0005c0015 a0006c0009 a0006c0028 a0009c0012 a0010c0013 a0012c0019	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0005c0015t0001 a0006c0009t0001 a0006c0028t0001 a0009c0012t0001 a0010c0013t0001 a0012c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(42): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0003g0128 a0002c0003t0001g0023 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0089 a0002c0003t0001g0099 a0002c0003t0001g0122 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0005t0001g0013 a0003c0007t0001g0019 a0003c0008t0001g0096 a0003c0008t0001g0105 a0004c0004t0001g0047 a0004c0004t0001g0088 a0004c0004t0001g0112 a0004c0004t0001g0169 a0005c0015t0001g0037 a0005c0015t0001g0153 a0006c0009t0001g0028 a0006c0009t0001g0048 a0006c0009t0001g0093 a0006c0009t0001g0129 a0006c0028t0001g0127 a0009c0012t0001g0091 a0009c0012t0001g0163 a0010c0013t0001g0166 a0012c0019t0001g0138 a0012c0019t0001g0157	45	188	0.2394	-102	c.325 others(17): Show c.325+8550_325+8651del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108101	CACGTGCT others(95): Show CACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTG GACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAG TGG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18990.hp2 HG02300.hp1 NA18990.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0011 a0001c0002 a0008c0011	a0001c0002t0001 a0008c0011t0001 a0001c0002t0001 a0008c0011t0001	a0001c0002t0001g0030 a0008c0011t0001g0004 a0001c0002t0001g0030 a0008c0011t0001g0004	2	188	0.0106	-102	c.325 others(17): Show c.325+9694_325+9795del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111127	AGTATATA others(95): Show AGTATATATACAGTATACTATATAGTGTGTATAGAGTATATATACAGTAT ACTATATAGTGTGTATAGAGTATATATACAGTATACTATATAGTGTGTAT AGC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	340	0.0029	-102	c.683 others(17): Show c.683-3477_683-3376del	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPON1_chr11_13957723_14273133	14160391	TTATATAT others(95): Show TTATATATATATTTATATATATATATTTATATATATATATTTATATATAT ATTTATATATATATTTATATATATATATTTATATATATATTTATATATAT ATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01074.hp1 others(71): Show HG00280.hp1 HG00642.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02071.hp1 HG02135.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA18946.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0012 a0001c0003t0017 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0065 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0003g0184 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0209 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0146 a0001c0001t0006g0012 a0001c0001t0006g0044 a0001c0001t0007g0194 a0001c0001t0007g0210 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0064 a0001c0002t0001g0144 a0001c0002t0001g0159 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0003g0197 a0001c0002t0009g0161 a0001c0002t0009g0172 a0001c0002t0019g0207 a0001c0003t0001g0069 a0001c0003t0001g0079 a0001c0003t0001g0109 a0001c0003t0001g0175 a0001c0003t0002g0066 a0001c0003t0002g0090 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0005g0089 a0001c0003t0012g0116 a0001c0003t0017g0073 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0106 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0117 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0008t0002g0022	74	219	0.3379	-102	c.825 others(19): Show c.825+24825_825+24926del	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
STARD13_chr13_33098137_33290755	33177810	AAGGAAGG others(95): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0257 a0001c0013t0001g0257	1	276	0.0036	-102	c.170 others(19): Show c.170-10290_170-10189del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STIM1_chr11_3850664_4098208	3895653	TCTTTCTT others(95): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCC TTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	296	0.0034	-102	c.139 others(19): Show c.139+39248_139+39349del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895661	TCTTTCTT others(95): Show TCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCC TTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp1 HG02647.hp1 HG03041.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0011 a0004c0007t0020 a0001c0001t0011 a0004c0007t0020	a0001c0001t0011g0088 a0004c0007t0020g0002 a0001c0001t0011g0088 a0004c0007t0020g0002	2	292	0.0068	-102	c.139 others(19): Show c.139+39256_139+39357del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895665	TCTTTCTT others(95): Show TCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02895.hp1 others(2): Show HG02145.hp2 HG02809.hp2 HG02895.hp1 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0002 a0001c0002t0009 a0001c0001t0015 a0001c0002t0002 a0001c0002t0009	a0001c0001t0015g0008 a0001c0002t0002g0211 a0001c0002t0009g0006 others(2): Show a0001c0001t0015g0008 a0001c0002t0002g0211 a0001c0002t0009g0006 a0001c0002t0009g0009 a0001c0002t0009g0010	5	294	0.0170	-102	c.139 others(19): Show c.139+39260_139+39361del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK31_chr7_23705219_23837513	23761852	TATTTTAT others(95): Show TATTTTATAGTTTTATTTATAGTTTTAAAATAATCTGGTTGAGCTTATGC AAGAAAAAATATCCTAAAATTCAGGCTTTTATAGTTTTATAGTTTTATAA TAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0065 a0001c0005t0001g0065	1	402	0.0025	-102	c.129 others(17): Show c.1294-868_1294-767del	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STON1_chr2_48525154_48603513	48564500	TCTTCTTC others(95): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTC CTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG02572.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0273 a0002c0002t0002g0276 a0002c0002t0001g0273 a0002c0002t0002g0276	2	367	0.0054	-102	c.-47 others(19): Show c.-47-16081_-47-15980del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564506	TCTTCTTC others(95): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTT CTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01978.hp1 HG02015.hp1 others(3): Show HG00609.hp1 HG01978.hp1 HG02015.hp1 HG02148.hp1 HG02155.hp1 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0005t0003 a0002c0002t0001 a0002c0002t0002 a0002c0005t0003	a0002c0002t0001g0242 a0002c0002t0002g0021 a0002c0002t0002g0160 others(3): Show a0002c0002t0001g0242 a0002c0002t0002g0021 a0002c0002t0002g0160 a0002c0002t0002g0252 a0002c0005t0003g0059 a0002c0005t0003g0125	6	372	0.0161	-102	c.-47 others(19): Show c.-47-16075_-47-15974del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON2_chr14_81255652_81405324	81308818	ATATATAT others(95): Show ATATATATGTGTGTGTGTGTATATATATATATATACACATACATACATAC ATACATACATACACTAAAGGGTTGTGGCAGGATTTGAGACAGAAAGGCTG CTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01243.hp2 others(22): Show HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02698.hp1 HG02895.hp2 HG02970.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp1 NA18947.hp2 NA18957.hp2 NA18965.hp2 NA18986.hp2 NA19066.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0002 a0002c0001 a0003c0003 others(4): Show a0001c0002 a0002c0001 a0003c0003 a0003c0012 a0004c0004 a0005c0005 a0008c0008	a0001c0002t0020 a0001c0002t0081 a0002c0001t0002 others(13): Show a0001c0002t0020 a0001c0002t0081 a0002c0001t0002 a0002c0001t0008 a0003c0003t0004 a0003c0003t0005 a0003c0003t0022 a0003c0003t0050 a0003c0012t0004 a0004c0004t0006 a0004c0004t0017 a0004c0004t0039 a0004c0004t0047 a0005c0005t0004 a0008c0008t0002 a0008c0008t0011	a0001c0002t0020g0189 a0001c0002t0081g0260 a0002c0001t0002g0114 others(22): Show a0001c0002t0020g0189 a0001c0002t0081g0260 a0002c0001t0002g0114 a0002c0001t0008g0082 a0003c0003t0004g0130 a0003c0003t0005g0236 a0003c0003t0022g0016 a0003c0003t0050g0024 a0003c0012t0004g0231 a0004c0004t0006g0003 a0004c0004t0006g0021 a0004c0004t0006g0048 a0004c0004t0006g0057 a0004c0004t0006g0139 a0004c0004t0006g0140 a0004c0004t0006g0247 a0004c0004t0006g0249 a0004c0004t0017g0036 a0004c0004t0017g0124 a0004c0004t0039g0033 a0004c0004t0047g0132 a0005c0005t0004g0002 a0005c0005t0004g0187 a0008c0008t0002g0178 a0008c0008t0011g0064	25	259	0.0965	-102	c.742 others(19): Show c.742+15097_742+15198del	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95423504	AGGGATTT others(95): Show AGGGATTTGATGGGGATGGGGATTTGATGGGGATGGGGATTTGATGGGCA TGGGGATTTGATGGGGATGAGGATTTGGTAGGCATGGGGATTTGATGGGG ATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02615.hp2 others(2): Show HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp2 NA19030.hp1	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0023	a0002c0017 a0003c0012 a0010c0024 others(1): Show a0002c0017 a0003c0012 a0010c0024 a0023c0088	a0002c0017t0044 a0003c0012t0008 a0003c0012t0023 others(2): Show a0002c0017t0044 a0003c0012t0008 a0003c0012t0023 a0010c0024t0172 a0023c0088t0003	a0002c0017t0044g0059 a0003c0012t0008g0070 a0003c0012t0023g0274 others(2): Show a0002c0017t0044g0059 a0003c0012t0008g0070 a0003c0012t0023g0274 a0010c0024t0172g0081 a0023c0088t0003g0110	5	328	0.0152	-102	c.272 others(19): Show c.2728-5580_2728-5479del	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYTL3_chr6_158645054_158769871	158704814	AGTGACAG others(95): Show AGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCA GGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGC AGG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0233 a0007c0008t0001g0233	1	133	0.0075	-102	c.395 others(17): Show c.395-2321_395-2220del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158704909	AGGGCAGG others(95): Show AGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACC CAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGAC CCG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	244	0.0041	-102	c.395 others(17): Show c.395-2270_395-2169del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48498007	GAGGCGGG others(95): Show GAGGCGGGGCTGAAGAGTGGGCTGAGGGTAGGAGAGGCTGCAAGCCTAGG GGTGGGGCTGCAAGCCTGGGGGCGGGGCTGAAGGGGCAGGGCTGGGGGCC TGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(53): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01256.hp2 HG01515.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02559.hp1 HG03017.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18972.hp1 NA18980.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19066.hp2 NA19074.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0035 a0001c0001t0038 a0001c0002t0001 a0001c0004t0003	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0177 others(53): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0002g0098 a0001c0001t0002g0200 a0001c0001t0002g0209 a0001c0001t0002g0215 a0001c0001t0002g0225 a0001c0001t0003g0002 a0001c0001t0003g0178 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0004g0199 a0001c0001t0006g0210 a0001c0001t0008g0211 a0001c0001t0008g0214 a0001c0001t0008g0223 a0001c0001t0010g0176 a0001c0001t0010g0226 a0001c0001t0016g0224 a0001c0001t0021g0231 a0001c0001t0022g0179 a0001c0001t0024g0202 a0001c0001t0035g0229 a0001c0001t0038g0196 a0001c0002t0001g0203 a0001c0004t0003g0228	56	256	0.2188	-102	c.112 others(17): Show c.112+8324_112+8425del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46858951	AGACCAGA others(95): Show AGACCAGAATCCTTTTCGATAGAGGTCTGTGTAGTGCTGTGCCCCTTCCC GGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCC CGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	112	0.0089	-102	c.638 others(19): Show c.638-19675_638-19574del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860354	GATAGAGG others(95): Show GATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTT TCC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	111	0.0090	-102	c.638 others(19): Show c.638-18279_638-18178del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860425	TGTGCCCC others(95): Show TGTGCCCCTTCCCGGGGCCAGAATCCTTTTCCATAGAGGTCCGCGCAGTG CTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGT GCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	106	0.0094	-102	c.638 others(19): Show c.638-18216_638-18115del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D32_chr6_121074494_121339480	121308671	ACAGAAAG others(95): Show ACAGAAAGCTTACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCG CTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01081.hp1 others(43): Show HG00597.hp1 HG00735.hp2 HG01081.hp1 HG01243.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG03130.hp2 HG03195.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp1 NA19067.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0003c0012 a0003c0013 others(1): Show a0003c0004 a0003c0012 a0003c0013 a0007c0008	a0003c0004t0003 a0003c0004t0011 a0003c0004t0028 others(4): Show a0003c0004t0003 a0003c0004t0011 a0003c0004t0028 a0003c0012t0003 a0003c0012t0011 a0003c0013t0003 a0007c0008t0017	a0003c0004t0003g0003 a0003c0004t0003g0004 a0003c0004t0003g0007 others(43): Show a0003c0004t0003g0003 a0003c0004t0003g0004 a0003c0004t0003g0007 a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0012 a0003c0004t0003g0013 a0003c0004t0003g0014 a0003c0004t0003g0015 a0003c0004t0003g0017 a0003c0004t0003g0018 a0003c0004t0003g0019 a0003c0004t0003g0020 a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0023 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0027 a0003c0004t0003g0028 a0003c0004t0003g0029 a0003c0004t0003g0030 a0003c0004t0003g0031 a0003c0004t0003g0032 a0003c0004t0003g0033 a0003c0004t0003g0034 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0041 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0044 a0003c0004t0003g0077 a0003c0004t0011g0010 a0003c0004t0011g0016 a0003c0004t0011g0024 a0003c0004t0011g0035 a0003c0004t0028g0011 a0003c0012t0003g0006 a0003c0012t0011g0005 a0003c0013t0003g0040 a0007c0008t0017g0074 a0007c0008t0017g0075 a0007c0008t0017g0076	46	290	0.1586	-102	c.565 others(15): Show c.565-672_565-571del	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	4/31			chr6	TogoVar
TBC1D9_chr4_140615782_140761385	140739047	TTGCTGCC others(95): Show TTGCTGCCCAGGCTGGAGTGCAATGGCGCAACCTCCACCTTCTGGATTCA AGTGATTCTCGTGCCTCAGCCTCCCAAGTTGCTGGGATTACAGGCGTGTG CCA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0172 a0001c0005t0001g0172	1	296	0.0034	-102	c.130 others(19): Show c.130+16767_130+16868del	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TCF3_chr19_1604292_1657615	1627981	CGGGGTGA others(95): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0027 a0003c0028t0027	a0003c0028t0027g0036 a0003c0028t0027g0036	1	250	0.0040	-102	c.299 others(15): Show c.299-657_299-556del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628051	GGGGGTGA others(95): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACT CAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0094 a0001c0004t0094	a0001c0004t0094g0340 a0001c0004t0094g0340	1	318	0.0031	-102	c.299 others(15): Show c.299-727_299-626del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECPR2_chr14_102357941_102507477	102380040	AGTCACAC others(95): Show AGTCACACTGCTGAAGATCACAGTCTTAAAATCCATGCACAGAGGCACCC TAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGGCGTC CTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0276 a0001c0001t0003g0267 a0001c0001t0003g0276	2	332	0.0060	-102	c.219 others(17): Show c.219+3202_219+3303del	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TENM4_chr11_78647829_79446030	79190860	CTCTCCCG others(95): Show CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02630.hp2 others(1): Show HG01243.hp2 HG02451.hp1 HG02630.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0013 others(1): Show a0001c0004 a0001c0006 a0001c0013 a0002c0019	a0001c0004t0055 a0001c0006t0005 a0001c0013t0032 others(1): Show a0001c0004t0055 a0001c0006t0005 a0001c0013t0032 a0002c0019t0025	a0001c0004t0055g0077 a0001c0006t0005g0037 a0001c0013t0032g0043 others(1): Show a0001c0004t0055g0077 a0001c0006t0005g0037 a0001c0013t0032g0043 a0002c0019t0025g0008	4	92	0.0435	-102	c.-16 others(21): Show c.-163+24846_-163+24947del	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TFEB_chr6_41678978_41740608	41738149	TATATATA others(95): Show TATATATACATATATATGCATATATATATACATATATATATGCATATATA TATGCATATATATATGCATATATATATGCATATATATATGTATATATATA TGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	404	0.0025	-102	c.-29 others(11): Show c.-2924_-2823del	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2542		chr6	TogoVar
THEG_chr19_356747_381026	377320	CCCCCACC others(95): Show CCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCT GTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0025 a0006c0011t0001g0025	1	333	0.0030	-102	c.-14 others(11): Show c.-1452_-1351del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
THEG_chr19_356747_381026	380924	GGGTGGGG others(95): Show GGGTGGGGCAGAACCGTGGTGATGAGCAGATGTAGGAGGTGGAGCAGAAT CGTGGTGATTGATAAGCAGATGTAGGAGGTGGAGCAGAACCGTGGTGATG AGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02723.hp1 others(10): Show HG02280.hp2 HG02486.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18983.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0007 a0005c0009 a0001c0001 a0002c0007 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0002c0007t0005 a0005c0009t0029	a0001c0001t0002g0100 a0001c0001t0004g0056 a0001c0001t0004g0109 others(10): Show a0001c0001t0002g0100 a0001c0001t0004g0056 a0001c0001t0004g0109 a0001c0001t0007g0102 a0001c0001t0008g0127 a0001c0001t0011g0059 a0001c0001t0012g0128 a0001c0001t0024g0116 a0001c0001t0025g0117 a0001c0001t0028g0130 a0002c0007t0005g0029 a0002c0007t0005g0030 a0005c0009t0029g0125	13	368	0.0353	-102	c.-50 others(11): Show c.-5056_-4955del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		4899		chr19	TogoVar
TIAM2_chr6_154990315_155262723	155027491	CATATATA others(95): Show CATATATACTATATATAATATATATACTGTGTTACATATACTATATATAA TATATATACTGTGTTACATATATACTATATATAATATATGTACTGTGTTA CAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02071.hp1 others(3): Show HG01109.hp1 HG01496.hp1 HG02071.hp1 HG02071.hp2 HG02976.hp2 HG03098.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0001c0002 a0002c0015 others(3): Show a0001c0001 a0001c0002 a0002c0015 a0004c0011 a0005c0012 a0010c0058	a0001c0001t0001 a0001c0002t0012 a0002c0015t0002 others(3): Show a0001c0001t0001 a0001c0002t0012 a0002c0015t0002 a0004c0011t0004 a0005c0012t0006 a0010c0058t0005	a0001c0001t0001g0123 a0001c0002t0012g0062 a0002c0015t0002g0208 others(3): Show a0001c0001t0001g0123 a0001c0002t0012g0062 a0002c0015t0002g0208 a0004c0011t0004g0120 a0005c0012t0006g0211 a0010c0058t0005g0085	6	196	0.0306	-102	c.-20 others(21): Show c.-209+32005_-209+32106del	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155028862	ATACTATC others(95): Show ATACTATCTATACTATGTTATATATACACTGTATATACTATCTATACTAT GTTATATATACACTGTATATACTATATATACTATGTTATATATACACTGT ATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02976.hp2 others(3): Show HG01109.hp1 HG01496.hp1 HG02976.hp2 HG03098.hp1 NA19043.hp2 NA19077.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0002 a0002c0015 a0005c0012 others(1): Show a0001c0002 a0002c0015 a0005c0012 a0010c0058	a0001c0002t0003 a0001c0002t0012 a0002c0015t0002 others(3): Show a0001c0002t0003 a0001c0002t0012 a0002c0015t0002 a0005c0012t0006 a0005c0012t0018 a0010c0058t0005	a0001c0002t0003g0133 a0001c0002t0012g0062 a0002c0015t0002g0208 others(3): Show a0001c0002t0003g0133 a0001c0002t0012g0062 a0002c0015t0002g0208 a0005c0012t0006g0211 a0005c0012t0018g0213 a0010c0058t0005g0085	6	228	0.0263	-102	c.-20 others(21): Show c.-209+33377_-209+33478del	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar

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