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
SPON1_chr11_13957723_14273133	14200814	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00642.hp1 others(88): Show HG00280.hp1 HG00323.hp1 HG00642.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA18612.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 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0012 a0001c0003t0017 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0001c0011t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0206 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0209 a0001c0001t0004g0223 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0146 a0001c0001t0006g0012 a0001c0001t0006g0029 a0001c0001t0006g0044 a0001c0001t0007g0194 a0001c0001t0007g0210 a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0144 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0164 a0001c0002t0003g0197 a0001c0002t0003g0208 a0001c0002t0003g0221 a0001c0002t0003g0224 a0001c0002t0007g0204 a0001c0002t0009g0161 a0001c0002t0009g0172 a0001c0002t0019g0207 a0001c0003t0001g0069 a0001c0003t0001g0079 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0109 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0002g0066 a0001c0003t0002g0090 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0005g0089 a0001c0003t0012g0116 a0001c0003t0017g0073 a0001c0004t0001g0067 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0106 a0001c0004t0001g0110 a0001c0004t0001g0117 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0008t0002g0022 a0001c0011t0001g0111 a0002c0005t0001g0046	91	108	0.8426	-13	c.826 others(32): Show c.826-42497_826-42485delAAAAAAAAAAAAA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1172884	CCCTCCCC others(6): Show CCCTCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(314): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010	a0001c0001 a0001c0010 a0002c0003 others(7): Show a0001c0001 a0001c0010 a0002c0003 a0003c0004 a0003c0008 a0004c0006 a0004c0015 a0007c0019 a0008c0020 a0010c0022	a0001c0001t0001 a0001c0001t0008 a0001c0010t0001 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0010t0001 a0002c0003t0002 a0003c0004t0001 a0003c0008t0001 a0004c0006t0001 a0004c0015t0001 a0007c0019t0005 a0008c0020t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0008g0051 a0001c0010t0001g0017 a0002c0003t0002g0005 a0002c0003t0002g0007 a0002c0003t0002g0027 a0002c0003t0002g0035 a0002c0003t0002g0062 a0002c0003t0002g0063 a0003c0004t0001g0004 a0003c0004t0001g0024 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0068 a0003c0008t0001g0012 a0004c0006t0001g0010 a0004c0006t0001g0016 a0004c0015t0001g0047 a0007c0019t0005g0057 a0008c0020t0001g0049 a0010c0022t0001g0029	317	423	0.7494	-13	c.-35 others(22): Show c.-357_-345delAGGGGAGGGGAGG		SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding					302		chr4	TogoVar
SPOPL_chr2_138496770_138578547	138505594	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19007.hp2 NA19002.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	234	0.0085	-13	c.-61 others(30): Show c.-61+3491_-61+3503delAAAAAAAAAAAAA		SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOPL_chr2_138496770_138578547	138567421	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	370	0.0027	-13	c.103 others(32): Show c.1035-1512_1035-1500delTGTGTGTGTGTTG		SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPPL2A_chr15_50697266_50770706	50698903	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG01070.hp1 others(42): Show HG00408.hp1 HG00733.hp1 HG01070.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01517.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02280.hp1 HG02486.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18969.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA19000.hp2 NA19004.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19079.hp1 NA19087.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0020 a0001c0001t0037 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0094 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0005c0006t0084	a0001c0001t0001g0062 a0001c0001t0003g0192 a0001c0001t0003g0195 others(42): Show a0001c0001t0001g0062 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0228 a0001c0001t0009g0126 a0001c0001t0009g0196 a0001c0001t0009g0197 a0001c0001t0009g0206 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0015g0193 a0001c0001t0015g0217 a0001c0001t0015g0224 a0001c0001t0015g0231 a0001c0001t0020g0190 a0001c0001t0020g0191 a0001c0001t0020g0194 a0001c0001t0037g0205 a0001c0001t0082g0202 a0001c0001t0085g0227 a0001c0001t0086g0204 a0001c0001t0087g0226 a0001c0001t0088g0211 a0001c0001t0089g0201 a0001c0001t0090g0214 a0001c0001t0094g0249 a0001c0001t0105g0315 a0001c0001t0106g0319 a0001c0001t0107g0322 a0005c0006t0084g0208	45	80	0.5625	-13	c.88 others(24): Show c.8884_*8896delAAAAAAAAAAAAA		SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding					3362		chr15	TogoVar
SPPL3_chr12_120757510_120909358	120779820	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02630.hp1 others(2): Show HG02055.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0113 a0001c0001t0008g0114 others(2): Show a0001c0001t0008g0070 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0008g0116	5	54	0.0926	-13	c.502 others(30): Show c.502+2822_502+2834delTTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	6/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120781555	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG01106.hp1 others(15): Show HG00280.hp2 HG00673.hp2 HG01106.hp1 HG01123.hp1 HG01358.hp1 HG01515.hp1 HG01934.hp2 HG01943.hp2 HG02976.hp1 HG03486.hp2 NA18940.hp1 NA18959.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA19000.hp2 NA19067.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0023	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 others(15): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0133 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0011g0047 a0001c0001t0011g0144 a0001c0001t0015g0058 a0001c0001t0023g0146	18	20	0.9000	-13	c.502 others(30): Show c.502+1087_502+1099delAAAAAAAAAAAAA		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	6/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120833668	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02572.hp2 HG02976.hp2 others(10): Show HG01257.hp2 HG02572.hp2 HG02976.hp2 HG03209.hp2 NA18963.hp1 NA18964.hp1 NA18984.hp2 NA19030.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0039 a0001c0001t0002 a0001c0001t0003 a0001c0001t0039	a0001c0001t0002g0236 a0001c0001t0003g0275 a0001c0001t0003g0276 others(10): Show a0001c0001t0002g0236 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0279 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0308 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0039g0277	13	318	0.0409	-13	c.24- others(30): Show c.24-22795_24-22783delCTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120833795	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	318	0.0031	-13	c.24- others(30): Show c.24-22922_24-22910delACACACACACACA		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120884785	GTTTTTTT others(6): Show GTTTTTTTGGGTTT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0012 a0001c0001t0016	a0001c0001t0012g0192 a0001c0001t0016g0189 a0001c0001t0012g0192 a0001c0001t0016g0189	2	318	0.0063	-13	c.23+ others(30): Show c.23+19047_23+19059delAAACCCAAAAAAA		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120898314	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02451.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0069 a0001c0001t0008g0067 a0001c0001t0008g0069	2	129	0.0155	-13	c.23+ others(28): Show c.23+5518_23+5530delTTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38322682	TAAGAGCT others(6): Show TAAGAGCTTGAAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(130): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0046	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(126): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0090 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0362 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0007g0220 a0001c0001t0011g0097 a0001c0001t0011g0098 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0016g0357 a0001c0001t0016g0358 a0001c0001t0016g0359 a0001c0001t0017g0122 a0001c0001t0017g0123 a0001c0001t0017g0124 a0001c0001t0030g0179 a0001c0001t0033g0198 a0001c0001t0034g0177 a0001c0001t0035g0096 a0001c0001t0041g0100 a0001c0001t0046g0017	133	376	0.3537	-13	c.376 others(28): Show c.376+279_376+291delCTTGAAGGAAGAG		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65338144	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02809.hp1 HG03486.hp2 others(3): Show HG02071.hp2 HG02809.hp1 HG03486.hp2 HG03540.hp1 NA19030.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0002c0008t0001	a0001c0001t0003g0206 a0001c0001t0007g0260 a0001c0001t0014g0209 others(3): Show a0001c0001t0003g0206 a0001c0001t0007g0260 a0001c0001t0014g0209 a0001c0002t0001g0174 a0001c0002t0004g0091 a0002c0008t0001g0141	6	274	0.0219	-13	c.205 others(30): Show c.205-3384_205-3372delCGGGAGAGGGAGA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65338221	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp2 HG01891.hp2 others(5): Show HG00609.hp2 HG01167.hp2 HG01891.hp2 HG02486.hp1 HG02615.hp2 HG03209.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0001t0023 a0001c0002t0001	a0001c0001t0003g0236 a0001c0001t0003g0264 a0001c0001t0003g0265 others(5): Show a0001c0001t0003g0236 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0006g0267 a0001c0001t0006g0269 a0001c0001t0021g0266 a0001c0001t0023g0268 a0001c0002t0001g0146	8	274	0.0292	-13	c.205 others(30): Show c.205-3461_205-3449delCGGGAGAGGGAGA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65338291	CTCTCCCT others(6): Show CTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	274	0.0036	-13	c.205 others(30): Show c.205-3531_205-3519delCGGGAGAGGGAGA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5						chr2	TogoVar
SPRY1_chr4_123391795_123408755	123392532	TTTTTTTC others(6): Show TTTTTTTCTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02896.hp2 HG00140.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	408	0.0049	-13	c.-47 others(24): Show c.-4701_-4689delTTTTTTCTTTTTC		SPRY1	ENSG00000164056.11	transcript	ENST00000651917.1	protein_coding					4262		chr4	TogoVar
SPRY1_chr4_123391795_123408755	123402069	CAACTGAT others(6): Show CAACTGATTGTGGA	C C	frameshift_variant frameshift_variant	HIGH	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	408	0.0025	-13	c.479 others(20): Show c.479_491delAACTGATTGTGGA	p.Gln others(5): Show p.Gln160fs	SPRY1	ENSG00000164056.11	transcript	ENST00000651917.1	protein_coding	3/3	918/2603	479/960	160/319			chr4	TogoVar
SPRY3_chrX_155607586_155787459	155622014	GGAGTATA others(6): Show GGAGTATAGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 NA18940.hp1 HG01496.hp2 HG02922.hp2 NA18940.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0084 a0003c0005t0048 a0001c0001t0002 a0001c0001t0084 a0003c0005t0048	a0001c0001t0002g0218 a0001c0001t0084g0220 a0003c0005t0048g0219 a0001c0001t0002g0218 a0001c0001t0084g0220 a0003c0005t0048g0219	3	229	0.0131	-13	c.-28 others(32): Show c.-282+9368_-282+9380delGAGTATAGGGCCA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2						chrX	TogoVar
SPRY3_chrX_155607586_155787459	155638291	CTAATATA others(6): Show CTAATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0041 a0001c0001t0049g0041	1	229	0.0044	-13	c.-28 others(34): Show c.-282+25647_-282+25659delATATATATATATA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155785211	ACTAATCC others(6): Show ACTAATCCCAAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02723.hp2 HG00642.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0059 a0001c0002t0033g0108 a0001c0002t0033g0059 a0001c0002t0033g0108	2	229	0.0087	-13	c.10 others(26): Show c.10474_*10486delCTAATCCCAAAGT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding					2753		chrX	TogoVar
SPSB1_chr1_9287894_9374532	9337018	CAGACCAT others(6): Show CAGACCATGTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01074.hp1 others(7): Show HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0003 a0001c0003t0018 a0001c0001t0017 a0001c0003t0003 a0001c0003t0018	a0001c0001t0017g0150 a0001c0003t0003g0051 a0001c0003t0003g0066 others(7): Show a0001c0001t0017g0150 a0001c0003t0003g0051 a0001c0003t0003g0066 a0001c0003t0003g0184 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0018g0017 a0001c0003t0018g0122 a0001c0003t0018g0123	10	368	0.0272	-13	c.-14 others(34): Show c.-149-18722_-149-18710delACCATGTTTCTAG		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141142803	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG03041.hp1 others(4): Show HG01891.hp2 HG02486.hp1 HG03041.hp1 HG03041.hp2 HG06807.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0002t0058	a0001c0001t0006g0017 a0001c0001t0010g0163 a0001c0001t0015g0162 others(4): Show a0001c0001t0006g0017 a0001c0001t0010g0163 a0001c0001t0015g0162 a0001c0001t0015g0175 a0001c0001t0015g0176 a0001c0001t0015g0194 a0001c0002t0058g0131	7	103	0.0680	-13	c.695 others(30): Show c.695-4320_695-4308delTTTTTTTTTTTTT		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03688.hp2 HG01981.hp1 HG03688.hp2	a0001 a0001	a0001c0004 a0001c0033 a0001c0004 a0001c0033	a0001c0004t0010 a0001c0033t0007 a0001c0004t0010 a0001c0033t0007	a0001c0004t0010g0342 a0001c0033t0007g0248 a0001c0004t0010g0342 a0001c0033t0007g0248	2	252	0.0079	-13	c.-48 others(32): Show c.-48+10077_-48+10089delAAAAAAAAAAAAA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54568349	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0261 a0001c0003t0003g0261	1	175	0.0057	-13	c.149 others(32): Show c.149-30732_149-30720delAAAAAAAAAAAAA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54675712	TTCCATCA others(6): Show TTCCATCATTTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0226 a0001c0017t0002g0226	1	368	0.0027	-13	c.71 others(24): Show c.7144_*7156delTCCATCATTTCTC		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding					4267		chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40531464	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	23	0.0435	-13	c.394 others(32): Show c.3949-1138_3949-1126delTTTTTTTTTTTTT		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	18/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64765814	GTGTGTGA others(6): Show GTGTGTGAGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03927.hp2 HG04204.hp2 HG02723.hp1 HG03927.hp2 HG04204.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0073 a0002c0006 a0009c0020 a0001c0073 a0002c0006 a0009c0020	a0001c0073t0012 a0002c0006t0012 a0009c0020t0001 a0001c0073t0012 a0002c0006t0012 a0009c0020t0001	a0001c0073t0012g0259 a0002c0006t0012g0026 a0009c0020t0001g0196 a0001c0073t0012g0259 a0002c0006t0012g0026 a0009c0020t0001g0196	3	261	0.0115	-13	c.634 others(30): Show c.6345+899_6345+911delACACACTCACACA		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35						chr14	TogoVar
SPTB_chr14_64741283_64884907	64797228	TTTGGGAG others(6): Show TTTGGGAGGCCAAG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01167.hp1 others(27): Show HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01981.hp1 HG01981.hp2 HG02129.hp2 HG02148.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp1 HG02735.hp2 HG03130.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18950.hp1 NA18962.hp1 NA18983.hp1 NA19010.hp1 NA19043.hp1 NA20752.hp1	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0021 a0029	a0002c0006 a0003c0004 a0003c0030 others(5): Show a0002c0006 a0003c0004 a0003c0030 a0007c0017 a0007c0018 a0007c0035 a0021c0045 a0029c0034	a0002c0006t0001 a0002c0006t0003 a0002c0006t0005 others(13): Show a0002c0006t0001 a0002c0006t0003 a0002c0006t0005 a0002c0006t0029 a0003c0004t0001 a0003c0004t0002 a0003c0004t0015 a0003c0004t0038 a0003c0030t0012 a0007c0017t0001 a0007c0018t0002 a0007c0018t0005 a0007c0018t0006 a0007c0035t0003 a0021c0045t0005 a0029c0034t0002	a0002c0006t0001g0149 a0002c0006t0001g0205 a0002c0006t0003g0152 others(27): Show a0002c0006t0001g0149 a0002c0006t0001g0205 a0002c0006t0003g0152 a0002c0006t0005g0150 a0002c0006t0005g0158 a0002c0006t0029g0111 a0003c0004t0001g0165 a0003c0004t0002g0035 a0003c0004t0002g0071 a0003c0004t0002g0078 a0003c0004t0002g0214 a0003c0004t0002g0222 a0003c0004t0002g0228 a0003c0004t0002g0229 a0003c0004t0002g0244 a0003c0004t0015g0265 a0003c0004t0015g0266 a0003c0004t0015g0267 a0003c0004t0038g0264 a0003c0030t0012g0164 a0003c0030t0012g0168 a0007c0017t0001g0161 a0007c0017t0001g0163 a0007c0017t0001g0171 a0007c0018t0002g0211 a0007c0018t0005g0167 a0007c0018t0006g0179 a0007c0035t0003g0162 a0021c0045t0005g0187 a0029c0034t0002g0240	30	266	0.1128	-13	c.118 others(30): Show c.1182+488_1182+500delCTTGGCCTCCCAA		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	10/35						chr14	TogoVar
SPTB_chr14_64741283_64884907	64797467	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0013 a0013	a0013c0075 a0013c0075	a0013c0075t0003 a0013c0075t0003	a0013c0075t0003g0176 a0013c0075t0003g0176	1	70	0.0143	-13	c.118 others(30): Show c.1182+249_1182+261delTTTTTTTTTTTTT		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	10/35						chr14	TogoVar
SPTB_chr14_64741283_64884907	64830364	ATTATTAT others(6): Show ATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01081.hp1 others(51): Show HG00642.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18951.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19080.hp1 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0013 a0016 a0026	a0001c0001 a0002c0003 a0002c0005 others(24): Show a0001c0001 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0002c0012 a0002c0013 a0002c0023 a0002c0026 a0002c0031 a0002c0032 a0002c0033 a0002c0040 a0002c0043 a0002c0053 a0003c0038 a0004c0019 a0004c0024 a0004c0051 a0005c0070 a0006c0037 a0008c0011 a0010c0052 a0010c0082 a0013c0049 a0016c0050 a0026c0041	a0001c0001t0001 a0002c0003t0001 a0002c0003t0006 others(32): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0006 a0002c0003t0008 a0002c0003t0014 a0002c0003t0034 a0002c0005t0004 a0002c0006t0008 a0002c0006t0012 a0002c0006t0029 a0002c0007t0001 a0002c0012t0010 a0002c0013t0001 a0002c0013t0005 a0002c0023t0010 a0002c0026t0018 a0002c0031t0011 a0002c0032t0001 a0002c0033t0001 a0002c0040t0030 a0002c0043t0003 a0002c0053t0001 a0003c0038t0001 a0004c0019t0001 a0004c0024t0001 a0004c0024t0003 a0004c0051t0001 a0005c0070t0022 a0006c0037t0007 a0008c0011t0002 a0010c0052t0013 a0010c0082t0011 a0013c0049t0003 a0016c0050t0017 a0026c0041t0005	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(50): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0136 a0002c0003t0001g0062 a0002c0003t0001g0113 a0002c0003t0001g0263 a0002c0003t0006g0153 a0002c0003t0008g0118 a0002c0003t0014g0112 a0002c0003t0014g0116 a0002c0003t0014g0117 a0002c0003t0034g0060 a0002c0005t0004g0131 a0002c0005t0004g0154 a0002c0006t0008g0052 a0002c0006t0012g0026 a0002c0006t0012g0032 a0002c0006t0029g0111 a0002c0007t0001g0135 a0002c0012t0010g0001 a0002c0012t0010g0257 a0002c0013t0001g0059 a0002c0013t0005g0137 a0002c0013t0005g0142 a0002c0023t0010g0030 a0002c0023t0010g0106 a0002c0026t0018g0066 a0002c0026t0018g0067 a0002c0031t0011g0109 a0002c0032t0001g0020 a0002c0033t0001g0021 a0002c0040t0030g0053 a0002c0043t0003g0028 a0002c0053t0001g0061 a0003c0038t0001g0022 a0004c0019t0001g0040 a0004c0019t0001g0043 a0004c0019t0001g0045 a0004c0024t0001g0024 a0004c0024t0003g0023 a0004c0051t0001g0044 a0005c0070t0022g0031 a0006c0037t0007g0262 a0008c0011t0002g0054 a0008c0011t0002g0055 a0008c0011t0002g0057 a0008c0011t0002g0058 a0010c0052t0013g0115 a0010c0082t0011g0170 a0013c0049t0003g0134 a0016c0050t0017g0042 a0026c0041t0005g0155	54	265	0.2038	-13	c.-51 others(30): Show c.-51-7232_-51-7220delATAATAATAATAA		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35						chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92045524	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02896.hp1 HG02257.hp2 HG02615.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120	3	137	0.0219	-13	c.113 others(30): Show c.1136+462_1136+474delTTTTTTTTTTTTT		SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	12/14						chr9	TogoVar
SPTLC1_chr9_92026147_92120413	92115818	TTACAGGC others(6): Show TTACAGGCGTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18964.hp2 NA18985.hp1 others(1): Show NA18944.hp1 NA18964.hp2 NA18985.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102	4	356	0.0112	-13	c.-46 others(22): Show c.-461_-449delGCCCACGCCTGTA		SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding					406		chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77564823	TAAAAATA others(6): Show TAAAAATATTCACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0044 a0001c0001t0050 a0001c0004t0004 a0001c0006t0018 a0001c0006t0022 a0001c0008t0033	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0002g0071 a0001c0001t0003g0143 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0110 a0001c0001t0004g0228 a0001c0001t0005g0182 a0001c0001t0006g0154 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0009g0174 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0012g0227 a0001c0001t0014g0099 a0001c0001t0015g0130 a0001c0001t0015g0149 a0001c0001t0016g0068 a0001c0001t0016g0136 a0001c0001t0024g0220 a0001c0001t0027g0135 a0001c0001t0031g0043 a0001c0001t0032g0205 a0001c0001t0034g0090 a0001c0001t0036g0083 a0001c0001t0044g0047 a0001c0001t0050g0237 a0001c0004t0004g0190 a0001c0006t0018g0074 a0001c0006t0022g0004 a0001c0008t0033g0049	106	244	0.4344	-13	c.757 others(30): Show c.757-2347_757-2335delTGTGAATATTTTT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77588996	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01071.hp1 HG01081.hp1 others(3): Show HG00408.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG02071.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0035 a0001c0001t0001 a0001c0001t0008 a0001c0001t0035	a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0008g0172 a0001c0001t0035g0122	6	17	0.3529	-13	c.327 others(30): Show c.327+8177_327+8189delTTTTTTTTTTTTT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11						chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038627	TTATTTCT others(6): Show TTATTTCTGTTATC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0052 a0001c0001t0019g0053 a0001c0001t0001g0052 a0001c0001t0019g0053	2	290	0.0069	-13	c.118 others(32): Show c.118-10311_118-10299delTGTTATCTATTTC		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13064282	TTGTTTTG others(6): Show TTGTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01123.hp2 others(18): Show HG00140.hp1 HG00735.hp2 HG01123.hp2 HG01258.hp2 HG01516.hp2 HG01891.hp1 HG01978.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03491.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0014 a0001c0001 a0001c0005 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0005t0009 a0001c0005t0016 a0001c0005t0018 a0001c0005t0020 a0001c0005t0025 a0001c0005t0030 a0001c0005t0048 a0001c0014t0005	a0001c0001t0001g0159 a0001c0001t0004g0226 a0001c0001t0015g0265 others(18): Show a0001c0001t0001g0159 a0001c0001t0004g0226 a0001c0001t0015g0265 a0001c0005t0001g0080 a0001c0005t0001g0089 a0001c0005t0003g0085 a0001c0005t0004g0227 a0001c0005t0004g0235 a0001c0005t0004g0244 a0001c0005t0005g0069 a0001c0005t0005g0081 a0001c0005t0009g0079 a0001c0005t0009g0151 a0001c0005t0016g0147 a0001c0005t0018g0084 a0001c0005t0020g0078 a0001c0005t0025g0088 a0001c0005t0025g0096 a0001c0005t0030g0285 a0001c0005t0048g0164 a0001c0014t0005g0083	21	287	0.0732	-13	c.304 others(30): Show c.304-7972_304-7960delGTTTTGTTTTTGT		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13167241	GTTCATGA others(6): Show GTTCATGATTTTAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG02280.hp1 others(12): Show HG01106.hp2 HG01109.hp2 HG02280.hp1 HG02486.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0012 a0001c0001t0059 a0001c0003t0011 others(3): Show a0001c0001t0012 a0001c0001t0059 a0001c0003t0011 a0001c0003t0012 a0001c0003t0058 a0001c0009t0011	a0001c0001t0012g0259 a0001c0001t0059g0290 a0001c0003t0011g0082 others(12): Show a0001c0001t0012g0259 a0001c0001t0059g0290 a0001c0003t0011g0082 a0001c0003t0011g0152 a0001c0003t0011g0153 a0001c0003t0011g0154 a0001c0003t0011g0155 a0001c0003t0011g0162 a0001c0003t0012g0217 a0001c0003t0012g0222 a0001c0003t0012g0245 a0001c0003t0012g0258 a0001c0003t0012g0262 a0001c0003t0058g0257 a0001c0009t0011g0161	15	290	0.0517	-13	c.23 others(24): Show c.2397_*2409delTTAATTCATGATT		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	12/12				2397	INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443197	GGGTGTGT others(6): Show GGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02559.hp1 HG02965.hp1 others(2): Show HG02132.hp2 HG02559.hp1 HG02965.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0175 a0001c0001t0008g0012 a0001c0001t0008g0112 others(1): Show a0001c0001t0001g0175 a0001c0001t0008g0012 a0001c0001t0008g0112 a0001c0001t0008g0113	5	178	0.0281	-13	c.113 others(30): Show c.113-7906_113-7894delACACACACACACC		SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1						chr14	TogoVar
SPX_chr12_21521296_21537947	21527900	ACGCGGCT others(6): Show ACGCGGCTCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02895.hp2 others(3): Show HG02572.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0029 a0001c0001t0005g0072 a0001c0001t0006g0039 a0001c0001t0003g0029 a0001c0001t0005g0072 a0001c0001t0006g0039	6	426	0.0141	-13	c.208 others(28): Show c.208+115_208+127delGGCTCTGAGGCGC		SPX	ENSG00000134548.11	transcript	ENST00000256969.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
SQSTM1_chr5_179815905_179843078	179823445	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(15): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG02683.hp2 HG02735.hp1 HG03490.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18940.hp2 NA18973.hp1 NA18974.hp2 NA19065.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0051 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0197 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0002t0002g0013 a0001c0003t0002g0148	18	84	0.2143	-13	c.302 others(28): Show c.302-390_302-378delAAAAAAAAAAAAA		SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179840773	GGTAGGAA others(6): Show GGTAGGAATCGCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	460	0.0022	-13	c.41 others(24): Show c.4181_*4193delGTAGGAATCGCAC		SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding					2696		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45400814	TATAGAGA others(6): Show TATAGAGAGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(35): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01255.hp1 HG01261.hp2 HG01943.hp2 HG02027.hp2 HG02129.hp2 HG02300.hp1 HG02683.hp2 HG03239.hp1 HG04199.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19056.hp1 NA19074.hp1 NA19077.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 others(35): Show a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0261 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0346 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0217 a0002c0004t0001g0228 a0002c0004t0001g0232	38	356	0.1067	-13	c.251 others(32): Show c.2514-7698_2514-7686delTTAACCTCTCTAT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	19/20						chr2	TogoVar
SRCAP_chr16_30694171_30746409	30702568	TCCCTCCC others(6): Show TCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	206	0.0049	-13	c.55- others(28): Show c.55-1493_55-1481delCTCCCTCCCTCCC		SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr16	TogoVar
SRC_chr20_37341140_37411050	37390388	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG02818.hp2 others(2): Show HG01109.hp1 HG02615.hp2 HG02818.hp2 HG03453.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0032	a0001c0001t0001g0023 a0001c0001t0001g0191 a0001c0001t0003g0108 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0191 a0001c0001t0003g0108 a0001c0001t0008g0019 a0001c0001t0032g0021	5	215	0.0233	-13	c.351 others(30): Show c.351-3492_351-3480delTTTTTTTTTTTTT		SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
SREBF1_chr17_17806334_17841986	17839252	TTACAGTC others(6): Show TTACAGTCATGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03516.hp2 HG01243.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0132 a0001c0004t0016g0210 a0001c0004t0016g0132 a0001c0004t0016g0210	2	350	0.0057	-13	c.-24 others(24): Show c.-2448_-2436delGTGCATGACTGTA		SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding					2267		chr17	TogoVar
SREBF2_chr22_41828105_41912305	41843641	AAGTTGCA others(6): Show AAGTTGCAAATACC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	334	0.0030	-13	c.88+ others(30): Show c.88+10286_88+10298delTTGCAAATACCAG		SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41859799	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0105	1	114	0.0088	-13	c.89- others(28): Show c.89-7015_89-7003delTTTTTTTTTTTTT		SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1_chr5_66139300_66188615	66148688	CTGGGCTT others(6): Show CTGGGCTTAAGCAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG01261.hp1 others(2): Show HG01074.hp1 HG01192.hp2 HG01261.hp1 HG04115.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0038 a0001c0001t0002g0102 a0001c0001t0002g0182 others(2): Show a0001c0001t0002g0038 a0001c0001t0002g0102 a0001c0001t0002g0182 a0001c0001t0005g0103 a0001c0001t0006g0038	5	384	0.0130	-13	c.161 others(30): Show c.161+4153_161+4165delGGGCTTAAGCAGT		SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
SREK1_chr5_66139300_66188615	66184223	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19078.hp1 HG02630.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0183 a0001c0001t0013g0205 a0001c0001t0001g0183 a0001c0001t0013g0205	2	10	0.2000	-13	c.53 others(24): Show c.5356_*5368delTTTTTTTTTTTTT		SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding					609		chr5	TogoVar
SRF_chr6_43166269_43186506	43186449	TGTGCAGG others(6): Show TGTGCAGGTGGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	-13	c.72 others(24): Show c.7260_*7272delGTGCAGGTGGGCA		SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding					4944		chr6	TogoVar

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