Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC44A1_chr9_105239651_105402346	105351598	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0141 a0002c0002t0076g0141	1	131	0.0076	-18	c.500 others(35): Show c.500+3149_500+3166delAAGAAAGAAAGAAAGAAA		SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A3_chr1_94815357_94900246	94862981	GGAGAGGT others(11): Show GGAGAGGTGGTAGGATGAC	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19010.hp1 NA19090.hp1 NA18994.hp1 NA19010.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0268 a0001c0001t0002g0293 a0001c0001t0002g0063 a0001c0001t0002g0268 a0001c0001t0002g0293	3	358	0.0084	-18	c.123 others(37): Show c.1239-1760_1239-1743delAGAGGTGGTAGGATGACG		SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75233409	TCATTATT others(11): Show TCATTATTTAGCTCCCACA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(58): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02135.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19086.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0010 a0001c0005t0001 a0001c0005t0006 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0002 a0001c0008t0001 a0001c0009t0002	a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0002t0001g0075 others(57): Show a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0002t0001g0075 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0016 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0084 a0001c0002t0002g0091 a0001c0002t0002g0104 a0001c0002t0002g0133 a0001c0002t0002g0146 a0001c0002t0002g0151 a0001c0002t0004g0014 a0001c0002t0004g0017 a0001c0002t0004g0081 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0077 a0001c0003t0001g0093 a0001c0003t0001g0095 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0112 a0001c0003t0001g0116 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0129 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0150 a0001c0003t0010g0113 a0001c0005t0001g0073 a0001c0005t0001g0096 a0001c0005t0006g0065 a0001c0006t0001g0042 a0001c0006t0001g0066 a0001c0006t0001g0142 a0001c0006t0002g0062 a0001c0006t0002g0088 a0001c0006t0002g0094 a0001c0006t0004g0013 a0001c0007t0002g0064 a0001c0007t0002g0103 a0001c0007t0002g0106 a0001c0007t0002g0128 a0001c0007t0002g0131 a0001c0008t0001g0136 a0001c0009t0002g0011	61	154	0.3961	-18	c.853 others(33): Show c.853+559_853+576delTGTGGGAGCTAAATAATG		SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	12/23						chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8320676	TGTTTCTC others(11): Show TGTTTCTCTCTCTCTCTAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0185 a0002c0006t0001g0185	1	379	0.0026	-18	c.-25 others(35): Show c.-25+2491_-25+2508delGTTTCTCTCTCTCTCTAC		SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8						chr1	TogoVar
SLC45A2_chr5_33939623_33989693	33967783	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(116): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG03041.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18993.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19058.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0308 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0392 a0001c0003t0001g0003 a0001c0003t0001g0024 a0001c0003t0001g0108 a0001c0003t0001g0111 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0152 a0001c0003t0001g0185 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0326 a0001c0003t0001g0354 a0001c0003t0001g0359 a0003c0004t0001g0001 a0003c0004t0001g0005 a0003c0004t0001g0020 a0003c0004t0001g0031 a0003c0004t0001g0033 a0003c0004t0001g0041 a0003c0004t0001g0067 a0003c0004t0001g0088 a0003c0004t0001g0090 a0003c0004t0001g0117 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0177 a0003c0004t0001g0181 a0003c0004t0001g0186 a0003c0004t0001g0187 a0003c0004t0001g0188 a0003c0004t0001g0189 a0003c0004t0001g0202 a0003c0004t0001g0203 a0003c0004t0001g0205 a0003c0004t0001g0257 a0003c0004t0001g0277 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0286 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0294 a0003c0004t0001g0295 a0003c0004t0001g0332 a0003c0004t0001g0334 a0003c0004t0001g0336 a0003c0004t0001g0339 a0003c0004t0001g0340 a0003c0004t0001g0341 a0003c0004t0001g0343	119	129	0.9225	-18	c.563 others(35): Show c.563-3785_563-3768delGTGTGTGTGTGTGTGTGT		SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6						chr5	TogoVar
SLC45A3_chr1_205652851_205685509	205660326	TTCCTTCC others(11): Show TTCCTTCCTGCTGTCTGAC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	402	0.0025	-18	c.122 others(35): Show c.1225-673_1225-656delGTCAGACAGCAGGAAGGA		SLC45A3	ENSG00000158715.6	transcript	ENST00000367145.4	protein_coding	4/4						chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141217978	AGAGCGGC others(11): Show AGAGCGGCCCCGCTCCGGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(141): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0003 a0001c0004 a0001c0006 others(22): Show a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0029 a0001c0030 a0002c0001 a0002c0005 a0003c0011 a0004c0007 a0005c0025 a0006c0027 a0007c0019 a0008c0024 a0009c0026	a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 others(48): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0043 a0001c0003t0045 a0001c0004t0004 a0001c0004t0006 a0001c0004t0018 a0001c0004t0034 a0001c0004t0046 a0001c0006t0009 a0001c0006t0026 a0001c0008t0005 a0001c0009t0010 a0001c0009t0011 a0001c0010t0001 a0001c0010t0003 a0001c0013t0015 a0001c0014t0028 a0001c0014t0038 a0001c0015t0002 a0001c0016t0016 a0001c0020t0005 a0001c0021t0011 a0001c0022t0001 a0001c0023t0018 a0001c0029t0036 a0001c0030t0003 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0013 a0002c0001t0020 a0002c0001t0030 a0002c0001t0039 a0002c0001t0042 a0002c0001t0044 a0002c0005t0007 a0002c0005t0012 a0002c0005t0032 a0002c0005t0035 a0003c0011t0001 a0003c0011t0002 a0003c0011t0003 a0004c0007t0008 a0004c0007t0014 a0005c0025t0024 a0006c0027t0001 a0007c0019t0005 a0008c0024t0007 a0009c0026t0001	a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0017 others(139): Show a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0003t0001g0026 a0001c0003t0001g0037 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0056 a0001c0003t0001g0064 a0001c0003t0001g0072 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0136 a0001c0003t0001g0145 a0001c0003t0003g0164 a0001c0003t0003g0167 a0001c0003t0003g0170 a0001c0003t0003g0177 a0001c0003t0003g0183 a0001c0003t0011g0160 a0001c0003t0043g0162 a0001c0003t0045g0179 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0038 a0001c0004t0004g0057 a0001c0004t0006g0048 a0001c0004t0006g0078 a0001c0004t0006g0089 a0001c0004t0006g0098 a0001c0004t0006g0100 a0001c0004t0018g0185 a0001c0004t0034g0031 a0001c0004t0046g0166 a0001c0006t0009g0001 a0001c0006t0009g0006 a0001c0006t0026g0007 a0001c0008t0005g0034 a0001c0008t0005g0142 a0001c0008t0005g0143 a0001c0008t0005g0144 a0001c0009t0010g0062 a0001c0009t0010g0063 a0001c0009t0010g0083 a0001c0009t0011g0102 a0001c0010t0001g0147 a0001c0010t0001g0153 a0001c0010t0003g0186 a0001c0013t0015g0023 a0001c0013t0015g0024 a0001c0014t0028g0029 a0001c0014t0038g0105 a0001c0015t0002g0041 a0001c0015t0002g0099 a0001c0016t0016g0002 a0001c0020t0005g0140 a0001c0021t0011g0003 a0001c0022t0001g0076 a0001c0023t0018g0175 a0001c0029t0036g0117 a0001c0030t0003g0172 a0002c0001t0001g0011 a0002c0001t0001g0018 a0002c0001t0001g0021 a0002c0001t0001g0028 a0002c0001t0001g0032 a0002c0001t0001g0035 a0002c0001t0001g0042 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0080 a0002c0001t0001g0086 a0002c0001t0001g0088 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0104 a0002c0001t0001g0109 a0002c0001t0001g0124 a0002c0001t0001g0127 a0002c0001t0001g0146 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0155 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0003g0163 a0002c0001t0003g0168 a0002c0001t0003g0173 a0002c0001t0003g0178 a0002c0001t0003g0181 a0002c0001t0003g0182 a0002c0001t0003g0184 a0002c0001t0004g0012 a0002c0001t0004g0115 a0002c0001t0004g0116 a0002c0001t0013g0047 a0002c0001t0013g0092 a0002c0001t0013g0135 a0002c0001t0020g0126 a0002c0001t0030g0030 a0002c0001t0039g0055 a0002c0001t0042g0165 a0002c0001t0044g0180 a0002c0005t0007g0005 a0002c0005t0007g0118 a0002c0005t0007g0120 a0002c0005t0007g0121 a0002c0005t0012g0111 a0002c0005t0012g0113 a0002c0005t0012g0125 a0002c0005t0032g0013 a0002c0005t0035g0129 a0003c0011t0001g0058 a0003c0011t0002g0049 a0003c0011t0003g0174 a0004c0007t0008g0014 a0004c0007t0008g0025 a0004c0007t0008g0027 a0004c0007t0014g0148 a0004c0007t0014g0149 a0005c0025t0024g0106 a0006c0027t0001g0154 a0007c0019t0005g0141 a0008c0024t0007g0110 a0009c0026t0001g0069	144	186	0.7742	-18	c.162 others(33): Show c.1629+15_1629+32delACCGGAGCGGGGCCGCTC		SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	5/8						chr8	TogoVar
SLC46A2_chr9_112873920_112895876	112890521	GAGGAGCC others(11): Show GAGGAGCCTCCGGTTCCGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0017 a0006c0021t0017	a0006c0021t0017g0149 a0006c0021t0017g0149	1	444	0.0023	-18	c.143 others(25): Show c.143_160delACGGAACCGGAGGCTCCT	p.Tyr others(11): Show p.Tyr48_Ser53del	SLC46A2	ENSG00000119457.8	transcript	ENST00000374228.5	protein_coding	1/4	355/2465	143/1428	48/475			chr9	TogoVar
SLC4A10_chr2_161619416_161990270	161767094	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02572.hp2 others(6): Show HG01261.hp2 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG02897.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0104 a0003c0004t0001g0106	9	33	0.2727	-18	c.49- others(33): Show c.49-3850_49-3833delATATATATATATATATAT		SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A10_chr2_161619416_161990270	161828767	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	11	0.0909	-18	c.278 others(37): Show c.278-10997_278-10980delATATATATATATATATAT		SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A10_chr2_161619416_161990270	161945182	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	15	0.0667	-18	c.210 others(37): Show c.2103+2321_2104-2331delATATATATATATATATAT		SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	16/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A10_chr2_161619416_161990270	161987696	TTATATAT others(11): Show TTATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	5	0.2000	-18	c.45 others(29): Show c.4545_*4562delTATATATATATATATATA		SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding					2427		chr2	TogoVar
SLC4A1AP_chr2_27658889_27699969	27673990	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01261.hp1 HG02015.hp1 HG00423.hp1 HG01261.hp1 HG02015.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0186 a0001c0001t0001g0219 a0002c0002t0001g0120 a0001c0001t0001g0186 a0001c0001t0001g0219 a0002c0002t0001g0120	3	84	0.0357	-18	c.118 others(37): Show c.1184-1518_1184-1501delGTGTGTGTGTGTGTGTGT		SLC4A1AP	ENSG00000163798.14	transcript	ENST00000326019.11	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A4_chr4_71182259_71577083	71190385	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0138 a0001c0005t0005g0138	1	33	0.0303	-18	c.-2+ others(33): Show c.-2+3012_-2+3029delCACACACACACACACACA		SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71196834	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0066 a0001c0002t0017g0066	1	7	0.1429	-18	c.-2+ others(33): Show c.-2+9456_-2+9473delAAAAAAAAAAAAAAAAAA		SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71466948	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02258.hp1 HG02486.hp1 others(18): Show HG02056.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG03041.hp2 HG03098.hp1 HG03688.hp1 HG04184.hp1 HG04199.hp2 NA18906.hp1 NA18939.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18991.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19058.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0024 a0001c0001t0027 a0001c0002t0003 a0001c0002t0007 a0001c0002t0020	a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0001g0100 others(18): Show a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0002g0097 a0001c0001t0002g0152 a0001c0001t0005g0020 a0001c0001t0005g0060 a0001c0001t0014g0043 a0001c0001t0024g0018 a0001c0001t0027g0090 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0007g0015 a0001c0002t0007g0135 a0001c0002t0020g0136	21	150	0.1400	-18	c.163 others(35): Show c.1631+385_1631+402delAGAGGGAGAGAGAGAGAG		SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71516080	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0036 a0001c0001t0031g0036	1	3	0.3333	-18	c.216 others(39): Show c.2167-15966_2167-15949delTTTTTTTTTTTTTTTTTT		SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71466948	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG01981.hp1 others(29): Show HG00558.hp1 HG01433.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02165.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG03041.hp1 HG03098.hp1 HG03688.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18949.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18983.hp2 NA18991.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0023 a0001c0001t0026 a0001c0001t0032 a0001c0002t0003 a0001c0002t0007 a0001c0002t0019	a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0057 others(29): Show a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0164 a0001c0001t0001g0185 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0006g0096 a0001c0001t0006g0179 a0001c0001t0009g0176 a0001c0001t0023g0186 a0001c0001t0026g0109 a0001c0001t0032g0059 a0001c0002t0003g0053 a0001c0002t0003g0063 a0001c0002t0003g0070 a0001c0002t0003g0091 a0001c0002t0003g0095 a0001c0002t0007g0161 a0001c0002t0007g0177 a0001c0002t0019g0008	32	232	0.1379	-18	c.149 others(35): Show c.1499+385_1499+402delAGAGGGAGAGAGAGAGAG		SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	10/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71516080	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0115 a0001c0001t0022g0115	1	4	0.2500	-18	c.203 others(39): Show c.2035-15966_2035-15949delTTTTTTTTTTTTTTTTTT		SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536457	CATATATA others(11): Show CATATATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	159	0.0063	-18	c.231 others(37): Show c.2310+2077_2310+2094delCATATATATATATATATA		SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A5_chr2_74211242_74348416	74219203	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02451.hp1 others(9): Show HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0006c0009	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0003t0003 a0002c0004t0007 a0002c0004t0009 a0002c0004t0014 a0006c0009t0007	a0001c0001t0004g0156 a0001c0001t0007g0154 a0001c0001t0007g0162 others(9): Show a0001c0001t0004g0156 a0001c0001t0007g0154 a0001c0001t0007g0162 a0001c0001t0009g0186 a0001c0001t0009g0188 a0001c0003t0003g0155 a0002c0004t0007g0254 a0002c0004t0009g0261 a0002c0004t0009g0269 a0002c0004t0014g0253 a0002c0004t0014g0255 a0006c0009t0007g0107	12	280	0.0429	-18	c.34 others(33): Show c.34-429_*34-412delAACACACACACACACACA		SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	30/30						chr2	TogoVar
SLC4A5_chr2_74211242_74348416	74290607	AGAGAGAC others(11): Show AGAGAGACAGAGAAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0260 a0001c0001t0021g0260	1	280	0.0036	-18	c.272 others(35): Show c.272-4723_272-4706delCTCACTTCTCTGTCTCTC		SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	7/30						chr2	TogoVar
SLC4A7_chr3_27367723_27489384	27445949	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01070.hp2 others(21): Show HG00140.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02451.hp2 HG02602.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 NA18947.hp2 NA18960.hp1 NA18961.hp2 NA19043.hp1 NA19086.hp1 NA20752.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0002c0012 a0005c0008 a0002c0003 a0002c0012 a0005c0008	a0002c0003t0002 a0002c0012t0029 a0005c0008t0025 a0002c0003t0002 a0002c0012t0029 a0005c0008t0025	a0002c0003t0002g0151 a0002c0003t0002g0152 a0002c0003t0002g0157 others(21): Show a0002c0003t0002g0151 a0002c0003t0002g0152 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0160 a0002c0003t0002g0162 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0002g0170 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0175 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0183 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0012t0029g0155 a0005c0008t0025g0154	24	295	0.0814	-18	c.289 others(35): Show c.289+2684_289+2701delATATTTTTTTTTTTTTTT		SLC4A7	ENSG00000033867.18	transcript	ENST00000454389.6	protein_coding	3/25						chr3	TogoVar
SLC4A7_chr3_27367723_27489384	27445951	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0167 a0002c0003t0002g0182 a0002c0003t0002g0167 a0002c0003t0002g0182	2	299	0.0067	-18	c.289 others(35): Show c.289+2682_289+2699delATATATTTTTTTTTTTTT		SLC4A7	ENSG00000033867.18	transcript	ENST00000454389.6	protein_coding	3/25						chr3	TogoVar
SLC5A11_chr16_24840963_24916626	24890501	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01517.hp1 HG02257.hp2 others(5): Show HG00323.hp2 HG01517.hp1 HG02257.hp2 HG02559.hp2 HG02809.hp2 HG02965.hp1 HG03516.hp2 NA18949.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0022 a0001c0001 a0001c0002 a0004c0022	a0001c0001t0001 a0001c0002t0002 a0004c0022t0001 a0001c0001t0001 a0001c0002t0002 a0004c0022t0001	a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0202 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0290 a0001c0002t0002g0324 a0001c0002t0002g0337 a0004c0022t0001g0244	8	376	0.0213	-18	c.665 others(33): Show c.665-367_665-350delAAAAAAAAAAAAAAGAAG		SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	9/16						chr16	TogoVar
SLC5A12_chr11_26662020_26727060	26705925	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 NA19030.hp2 HG02615.hp2 HG02809.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0025 a0001c0003 a0004c0025	a0001c0003t0001 a0001c0003t0040 a0004c0025t0078 a0001c0003t0001 a0001c0003t0040 a0004c0025t0078	a0001c0003t0001g0079 a0001c0003t0040g0095 a0004c0025t0078g0087 a0001c0003t0001g0079 a0001c0003t0040g0095 a0004c0025t0078g0087	3	19	0.1579	-18	c.526 others(35): Show c.526-1996_526-1979delGTGTGTGTGTGTGTGTGT		SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	4/14						chr11	TogoVar
SLC5A1_chr22_32038261_32118029	32049136	ATATATAT others(11): Show ATATATATATAATCTATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	250	0.0040	-18	c.136 others(33): Show c.136-798_136-781delTAATCTATATTATATATA		SLC5A1	ENSG00000100170.10	transcript	ENST00000266088.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC5A1_chr22_32038261_32118029	32049162	AATCTATA others(11): Show AATCTATATCTATATCTAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01891.hp1 others(22): Show HG01109.hp2 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0025 a0003c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 others(21): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0002g0022 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0087 a0001c0001t0006g0007 a0001c0001t0007g0036 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0019g0024 a0001c0001t0025g0026 a0003c0004t0001g0189	25	59	0.4237	-18	c.136 others(33): Show c.136-730_136-713delCTATATCTATATCTATAT		SLC5A1	ENSG00000100170.10	transcript	ENST00000266088.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC5A1_chr22_32038261_32118029	32060138	TACACATA others(11): Show TACACATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	118	0.0085	-18	c.208 others(35): Show c.208-6791_208-6774delTACACACACACACACACA		SLC5A1	ENSG00000100170.10	transcript	ENST00000266088.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC5A2_chr16_31478123_31495769	31478748	AAAAGAAA others(11): Show AAAAGAAAGAAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	402	0.0025	-18	c.-43 others(29): Show c.-4388_-4371delAAAGAAAGAAAAGAAAGG		SLC5A2	ENSG00000140675.13	transcript	ENST00000330498.4	protein_coding					4374		chr16	TogoVar
SLC5A4_chr22_32213464_32260347	32218406	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01257.hp2 HG01258.hp1 others(2): Show HG00642.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG03239.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0021 a0004c0006t0001g0092 a0004c0006t0001g0093 others(1): Show a0004c0006t0001g0021 a0004c0006t0001g0092 a0004c0006t0001g0093 a0004c0006t0001g0094	5	29	0.1724	-18	c.90 others(26): Show c.90_*107delTTTTTTTTTTTTTTTTTT		SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding					57		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239518	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp2 HG02055.hp1 others(4): Show HG01167.hp1 HG01496.hp2 HG02055.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0126	7	261	0.0268	-18	c.478 others(33): Show c.478-446_478-429delTATATATATATATATATA		SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14						chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239581	TTTATATA others(11): Show TTTATATATATATAAATTA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	299	0.0033	-18	c.478 others(33): Show c.478-509_478-492delTAATTTATATATATATAA		SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14						chr22	TogoVar
SLC5A5_chr19_17866945_17900174	17892652	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01168.hp2 HG01169.hp2 others(2): Show HG01070.hp1 HG01168.hp2 HG01169.hp2 HG01891.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0025 a0001c0001t0001g0180 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0031g0068	5	75	0.0667	-18	c.176 others(37): Show c.1768-1032_1768-1015delAGAGAGAGAGAGAGAGAG		SLC5A5	ENSG00000105641.4	transcript	ENST00000222248.4	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC5A5_chr19_17866945_17900174	17898989	GTAAGGGT others(11): Show GTAAGGGTCTGATATGGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0014 a0006c0011t0014	a0006c0011t0014g0077 a0006c0011t0014g0077	1	412	0.0024	-18	c.51 others(29): Show c.5113_*5130delTAAGGGTCTGATATGGTT		SLC5A5	ENSG00000105641.4	transcript	ENST00000222248.4	protein_coding					3816		chr19	TogoVar
SLC5A8_chr12_101150493_101215238	101158584	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 NA18906.hp2 HG02615.hp2 HG03130.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0017 a0006c0007t0010 a0001c0001t0017 a0006c0007t0010	a0001c0001t0017g0196 a0006c0007t0010g0312 a0006c0007t0010g0313 a0001c0001t0017g0196 a0006c0007t0010g0312 a0006c0007t0010g0313	3	360	0.0083	-18	c.163 others(35): Show c.1631-274_1631-257delTATAGAGAGAGAGAGAGA		SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	13/14						chr12	TogoVar
SLC66A1_chr1_19307326_19334300	19312148	AGCCGGGG others(11): Show AGCCGGGGGCCCCGCCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	453	0.0022	-18	c.-81 others(27): Show c.-819_-802delGCCGGGGGCCCCGCCCAT		SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding					177		chr1	TogoVar
SLC6A11_chr3_10811228_10945714	10811799	TCCAAAAA others(11): Show TCCAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG00738.hp1 others(38): Show HG00558.hp1 HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01884.hp1 HG01928.hp2 HG02040.hp2 HG02080.hp2 HG02129.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG04199.hp1 NA18945.hp1 NA18947.hp2 NA18969.hp1 NA18986.hp2 NA18988.hp1 NA19010.hp2 NA19043.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0004t0001 a0001c0005t0002 a0001c0005t0008 a0001c0006t0010 a0001c0007t0004 a0001c0013t0001	a0001c0001t0001g0204 a0001c0001t0001g0263 a0001c0001t0001g0265 others(38): Show a0001c0001t0001g0204 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0289 a0001c0001t0003g0262 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0005g0260 a0001c0001t0005g0358 a0001c0001t0007g0112 a0001c0001t0007g0191 a0001c0001t0013g0255 a0001c0002t0002g0002 a0001c0002t0002g0261 a0001c0002t0002g0266 a0001c0002t0002g0270 a0001c0002t0002g0299 a0001c0002t0002g0302 a0001c0002t0002g0318 a0001c0002t0008g0205 a0001c0002t0008g0209 a0001c0002t0008g0290 a0001c0003t0001g0042 a0001c0003t0001g0046 a0001c0003t0001g0268 a0001c0003t0005g0036 a0001c0003t0006g0006 a0001c0003t0006g0037 a0001c0003t0006g0038 a0001c0003t0006g0041 a0001c0003t0006g0045 a0001c0004t0001g0269 a0001c0004t0001g0283 a0001c0005t0002g0287 a0001c0005t0002g0288 a0001c0005t0008g0039 a0001c0006t0010g0034 a0001c0007t0004g0254 a0001c0007t0004g0300 a0001c0013t0001g0246 a0001c0013t0001g0271	41	59	0.6949	-18	c.-44 others(29): Show c.-4466_-4449delCCAAAAAAAAAAAAAAAA		SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding					4428		chr3	TogoVar
SLC6A12_chr12_185081_219157	187589	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0372 a0002c0005t0001g0372	1	195	0.0051	-18	c.34 others(29): Show c.3461_*3478delTTTTTTTTTTTTTTTTTT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding					2491		chr12	TogoVar
SLC6A12_chr12_185081_219157	187614	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG03710.hp1 HG02109.hp1 HG03540.hp2 HG03710.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0012 a0002c0002 a0004c0026 a0001c0012 a0002c0002 a0004c0026	a0001c0012t0002 a0002c0002t0012 a0004c0026t0011 a0001c0012t0002 a0002c0002t0012 a0004c0026t0011	a0001c0012t0002g0046 a0002c0002t0012g0093 a0004c0026t0011g0036 a0001c0012t0002g0046 a0002c0002t0012g0093 a0004c0026t0011g0036	3	418	0.0072	-18	c.34 others(29): Show c.3436_*3453delGTTTTTTTTTTTTTTTTT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding					2466		chr12	TogoVar
SLC6A12_chr12_185081_219157	187618	AAAAAAAA others(11): Show AAAAAAAAAAAAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0058 a0002c0003t0009g0058	1	411	0.0024	-18	c.34 others(29): Show c.3432_*3449delGTTTGTTTTTTTTTTTTT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding					2462		chr12	TogoVar
SLC6A18_chr5_1220381_1251189	1246042	AGACACGG others(11): Show AGACACGGACATGCGCCCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0005 a0017c0037t0005	a0017c0037t0005g0154 a0017c0037t0005g0154	1	454	0.0022	-18	c.186 others(27): Show c.1867_1884delCCGGACACGGACATGCGC	p.Pro others(13): Show p.Pro623_Arg628del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	12/12	1964/2095	1867/1887	623/628		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1211912	TGCATGTG others(11): Show TGCATGTGTGTGCATGTGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02717.hp2 others(1): Show HG02109.hp2 HG02258.hp1 HG02717.hp2 NA19070.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0007c0031 others(1): Show a0001c0001 a0001c0002 a0007c0031 a0008c0036	a0001c0001t0010 a0001c0002t0004 a0007c0031t0045 others(1): Show a0001c0001t0010 a0001c0002t0004 a0007c0031t0045 a0008c0036t0044	a0001c0001t0010g0061 a0001c0002t0004g0255 a0007c0031t0045g0100 others(1): Show a0001c0001t0010g0061 a0001c0002t0004g0255 a0007c0031t0045g0100 a0008c0036t0044g0123	4	456	0.0088	-18	c.482 others(33): Show c.482-363_482-346delTGCATGTGAGCATGTGTG		SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A2_chr16_55650988_55711192	55691230	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0083 a0001c0002t0036g0083	1	20	0.0500	-18	c.784 others(33): Show c.784-653_784-636delGAGAGAGAGAGAGAGAGA		SLC6A2	ENSG00000103546.19	transcript	ENST00000568943.6	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC6A3_chr5_1387794_1450440	1440483	GAATAGAT others(11): Show GAATAGATGATTGACAGAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02886.hp2 others(2): Show HG02486.hp2 HG02717.hp1 HG02886.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0017 a0001c0010t0012 a0001c0010t0016 a0001c0001t0017 a0001c0010t0012 a0001c0010t0016	a0001c0001t0017g0262 a0001c0010t0012g0258 a0001c0010t0012g0259 others(2): Show a0001c0001t0017g0262 a0001c0010t0012g0258 a0001c0010t0012g0259 a0001c0010t0012g0261 a0001c0010t0016g0257	5	372	0.0134	-18	c.418 others(33): Show c.418+858_418+875delATCTGTCAATCATCTATT		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	3/14						chr5	TogoVar
SLC6A5_chr11_20594608_20664285	20600324	AAAGAAGA others(11): Show AAAGAAGAAGAGGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01361.hp2 NA18999.hp2 HG01175.hp2 HG01361.hp2 NA18999.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0033 a0002c0003t0040 a0002c0003t0001 a0002c0003t0033 a0002c0003t0040	a0002c0003t0001g0191 a0002c0003t0033g0030 a0002c0003t0040g0193 a0002c0003t0001g0191 a0002c0003t0033g0030 a0002c0003t0040g0193	3	328	0.0091	-18	c.3+6 others(29): Show c.3+660_3+677delGGAAGAAGAAGAAGAAGA		SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC6A5_chr11_20594608_20664285	20600335	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02615.hp1 NA18970.hp1 others(1): Show HG00280.hp1 HG02615.hp1 NA18970.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0051 a0001c0004t0017 a0001c0001t0001 a0001c0001t0051 a0001c0004t0017	a0001c0001t0001g0015 a0001c0001t0001g0092 a0001c0001t0051g0080 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0092 a0001c0001t0051g0080 a0001c0004t0017g0152	4	110	0.0364	-18	c.3+7 others(29): Show c.3+720_4-717delAGAAGAAGAAGAAGAAGA		SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC6A5_chr11_20594608_20664285	20618945	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0268 a0002c0002t0004g0268	1	8	0.1250	-18	c.126 others(37): Show c.1260+1079_1260+1096delCACACACACACACACACA		SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC6A5_chr11_20594608_20664285	20650655	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0209 a0004c0006t0002g0209	1	39	0.0256	-18	c.207 others(37): Show c.2071-1622_2071-1605delTTTTTTTTTTTTTTTTTT		SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC6A6_chr3_14397606_14494349	14431221	ATCTGTCA others(11): Show ATCTGTCATTGCAGTTTGC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	374	0.0027	-18	c.-11 others(37): Show c.-11-12396_-11-12379delATTGCAGTTTGCTCTGTC		SLC6A6	ENSG00000131389.18	transcript	ENST00000622186.5	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr3	TogoVar

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