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
SREK1IP1_chr5_64713148_64773691	64758414	CATTGTAC others(14): Show CATTGTACTCTAATCCCATTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0070 a0001c0003t0008g0070	1	340	0.0029	-21	c.14- others(36): Show c.14-4073_14-4053delACAATGGGATTAGAGTACAAT		SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	1/4						chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63949396	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01496.hp2 others(4): Show HG00099.hp1 HG00639.hp1 HG01496.hp2 HG01517.hp2 HG03195.hp1 HG04184.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0066 a0001c0001t0075 a0001c0002t0012 others(4): Show a0001c0001t0066 a0001c0001t0075 a0001c0002t0012 a0001c0002t0029 a0001c0002t0039 a0001c0002t0041 a0002c0004t0150	a0001c0001t0066g0100 a0001c0001t0075g0131 a0001c0002t0012g0145 others(4): Show a0001c0001t0066g0100 a0001c0001t0075g0131 a0001c0002t0012g0145 a0001c0002t0029g0112 a0001c0002t0039g0019 a0001c0002t0041g0153 a0002c0004t0150g0121	7	33	0.2121	-21	c.68- others(38): Show c.68-34524_68-34504delATTATTATTATTATTATTATT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121249564	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0257 a0001c0003t0004g0257	1	253	0.0040	-21	c.68- others(38): Show c.68-35237_68-35217delATATATATATATATATTTTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249566	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0261 a0001c0003t0053g0261	1	270	0.0037	-21	c.68- others(38): Show c.68-35235_68-35215delATATATATATATATTTTTTTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372956	TTTTCTTT others(14): Show TTTTCTTTCCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03540.hp2 HG02602.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0153 a0001c0001t0001g0087 a0001c0001t0001g0153	2	153	0.0131	-21	c.424 others(40): Show c.424-11049_424-11029delCTTTCTTTCTTTCTTTCTTTC		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9123380	TATATATA others(14): Show TATATATATACATACACAATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0021 a0003c0008 a0005c0015 a0006c0018 a0007c0019 a0008c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0004 a0001c0003t0007 a0001c0003t0018 a0001c0003t0053 a0001c0004t0009 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0006 a0001c0007t0026 a0001c0009t0012 a0001c0011t0022 a0001c0012t0001 a0001c0021t0012 a0003c0008t0002 a0005c0015t0001 a0006c0018t0019 a0007c0019t0017 a0008c0020t0002	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0044 others(123): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0063 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0130 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0107 a0001c0001t0003g0172 a0001c0001t0003g0195 a0001c0001t0003g0202 a0001c0001t0004g0073 a0001c0001t0005g0015 a0001c0001t0005g0033 a0001c0001t0005g0080 a0001c0001t0005g0135 a0001c0001t0005g0228 a0001c0001t0006g0109 a0001c0001t0006g0209 a0001c0001t0007g0035 a0001c0001t0007g0066 a0001c0001t0007g0082 a0001c0001t0008g0054 a0001c0001t0008g0086 a0001c0001t0009g0087 a0001c0001t0009g0179 a0001c0001t0011g0200 a0001c0001t0013g0022 a0001c0001t0013g0112 a0001c0001t0013g0211 a0001c0001t0014g0178 a0001c0001t0015g0154 a0001c0001t0016g0053 a0001c0001t0017g0133 a0001c0001t0019g0124 a0001c0001t0020g0069 a0001c0001t0021g0129 a0001c0001t0021g0189 a0001c0001t0024g0216 a0001c0001t0024g0218 a0001c0001t0025g0040 a0001c0001t0025g0088 a0001c0001t0032g0055 a0001c0001t0033g0050 a0001c0001t0034g0065 a0001c0001t0036g0204 a0001c0001t0037g0217 a0001c0001t0039g0196 a0001c0001t0040g0023 a0001c0001t0041g0083 a0001c0001t0043g0102 a0001c0001t0045g0123 a0001c0001t0046g0223 a0001c0001t0050g0093 a0001c0001t0051g0190 a0001c0001t0052g0188 a0001c0002t0004g0037 a0001c0003t0007g0212 a0001c0003t0018g0039 a0001c0003t0053g0205 a0001c0004t0009g0104 a0001c0005t0001g0008 a0001c0005t0002g0006 a0001c0006t0001g0192 a0001c0006t0006g0151 a0001c0007t0026g0005 a0001c0009t0012g0034 a0001c0011t0022g0010 a0001c0011t0022g0182 a0001c0012t0001g0169 a0001c0021t0012g0014 a0003c0008t0002g0177 a0005c0015t0001g0193 a0006c0018t0019g0060 a0007c0019t0017g0089 a0008c0020t0002g0141	126	226	0.5575	-21	c.260 others(38): Show c.260+1324_260+1344delGTATTGTGTATGTATATATAT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21						chr3	TogoVar
SRMS_chr20_63533489_63552749	63535860	CCCCTCCT others(14): Show CCCCTCCTCACCTGGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0020 a0001c0002t0003g0020	1	354	0.0028	-21	c.49 others(32): Show c.4937_*4957delCGGGAGGCCAGGTGAGGAGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2628		chr20	TogoVar
SRP14_chr15_40030690_40044181	40036356	TTGTTGCT others(14): Show TTGTTGCTGCTGTTGTTGGTGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0044 a0003c0007t0002g0044	1	424	0.0024	-21	c.367 others(28): Show c.367_387delGCACCAACAACAGCAGCAACA	p.Ala others(13): Show p.Ala123_Thr129del	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	5/5	452/1119	367/411	123/136			chr15	TogoVar
SRP54_chr14_34977992_35034567	35007623	TTAAAATA others(14): Show TTAAAATATATTTATATTATAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02622.hp1 HG00673.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0100 a0001c0001t0001g0147	2	394	0.0051	-21	c.360 others(36): Show c.360+250_360+270delTATTATAATAAAATATATTTA		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062503	ATATATAA others(14): Show ATATATAATATACATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01168.hp2 others(6): Show HG00735.hp1 HG00741.hp2 HG01168.hp2 HG01433.hp1 HG01934.hp2 HG03688.hp1 HG03942.hp2 NA18747.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0213 a0001c0002t0001g0224 a0001c0002t0001g0248 others(6): Show a0001c0002t0001g0213 a0001c0002t0001g0224 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0282 a0001c0006t0001g0022 a0001c0006t0001g0023	9	345	0.0261	-21	c.562 others(36): Show c.562-950_562-930delATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062615	ATATATAA others(14): Show ATATATAATATACATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp2 HG01517.hp1 others(2): Show HG00099.hp2 HG01515.hp2 HG01517.hp1 HG03139.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0210 a0001c0002t0005g0018 a0001c0002t0005g0292 others(1): Show a0001c0002t0001g0210 a0001c0002t0005g0018 a0001c0002t0005g0292 a0001c0002t0005g0296	5	306	0.0163	-21	c.562 others(38): Show c.562-1062_562-1042delATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76072432	ACCGCCGC others(14): Show ACCGCCGCCGCCACTGCCGCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18960.hp1 NA18960.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0002 a0008c0017t0002	a0008c0017t0002g0331 a0008c0017t0002g0331	1	358	0.0028	-21	c.39_ others(26): Show c.39_59delCGGCGGCAGTGGCGGCGGCGG	p.Gly others(11): Show p.Gly14_Gly20del	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/16	85/2831	39/1884	13/627			chr17	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02056.hp2 others(5): Show HG00408.hp1 HG00621.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp2 NA18991.hp1 NA19003.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0024 a0001c0001t0005g0024 a0001c0001t0005g0234 others(3): Show a0001c0001t0001g0024 a0001c0001t0005g0024 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237	8	30	0.2667	-21	c.141 others(36): Show c.141+876_141+896delTTTTTTTTTTTTTTTTTTTTT		SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPX_chrX_38144339_38225871	38163020	CAGACATT others(14): Show CAGACATTGTGCTAGACCCTGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0111 a0007c0008t0001g0111	1	255	0.0039	-21	c.653 others(38): Show c.653+1728_653+1748delTCAGGGTCTAGCACAATGTCT		SRPX	ENSG00000101955.15	transcript	ENST00000378533.4	protein_coding	5/9						chrX	TogoVar
SRRD_chr22_26478877_26499658	26483980	GGAGGCGG others(14): Show GGAGGCGGCGCCCCGGGGGAGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(373): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.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 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0012 a0001c0003t0016 a0001c0003t0022 a0001c0003t0030 a0001c0005t0011 a0001c0006t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0061 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0004g0009 a0001c0001t0005g0019 a0001c0001t0005g0043 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0006g0003 a0001c0001t0006g0016 a0001c0001t0006g0022 a0001c0001t0007g0001 a0001c0001t0007g0015 a0001c0001t0007g0041 a0001c0001t0013g0002 a0001c0001t0013g0006 a0001c0001t0013g0011 a0001c0001t0014g0002 a0001c0001t0014g0007 a0001c0001t0023g0006 a0001c0001t0024g0079 a0001c0001t0025g0001 a0001c0001t0026g0006 a0001c0001t0027g0014 a0001c0001t0028g0001 a0001c0001t0029g0006 a0001c0001t0031g0012 a0001c0001t0032g0012 a0001c0003t0001g0025 a0001c0003t0003g0004 a0001c0003t0003g0042 a0001c0003t0003g0094 a0001c0003t0004g0010 a0001c0003t0004g0025 a0001c0003t0004g0032 a0001c0003t0004g0049 a0001c0003t0004g0083 a0001c0003t0004g0085 a0001c0003t0004g0103 a0001c0003t0009g0010 a0001c0003t0009g0025 a0001c0003t0012g0046 a0001c0003t0012g0116 a0001c0003t0016g0045 a0001c0003t0022g0004 a0001c0003t0030g0084 a0001c0005t0011g0031 a0001c0006t0001g0115 a0005c0008t0001g0020	376	445	0.8449	-21	c.129 others(28): Show c.129_149delGAGAGAGGCGGCGCCCCGGGG	p.Arg others(11): Show p.Arg44_Gly50del	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	1/7	143/4020	129/1020	43/339		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24663878	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19055.hp2 HG00438.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0010 a0001c0001t0002g0023	2	68	0.0294	-21	c.162 others(40): Show c.1628+1092_1628+1112delTAATAATAATAATAATAATAA		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM3_chr7_76196896_76292287	76211816	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG02559.hp2 others(9): Show HG00639.hp1 HG01192.hp1 HG02559.hp2 HG02723.hp1 HG02897.hp1 HG03041.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 others(9): Show a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231	12	201	0.0597	-21	c.-40 others(38): Show c.-40+9770_-40+9790delTTATTATTATTATTATTATTA		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76220606	ACGGCAGG others(14): Show ACGGCAGGGAAAGGGTCAGCCC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0313 a0002c0002t0003g0313	1	322	0.0031	-21	c.-39 others(40): Show c.-39-14421_-39-14401delCGGCAGGGAAAGGGTCAGCCC		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14						chr7	TogoVar
SRSF11_chr1_70216380_70258052	70243336	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	14	0.1429	-21	c.801 others(38): Show c.801-1331_801-1311delAAAAAAAAAAAAAAAAAAAAA		SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRSF6_chr20_43452896_43469243	43461337	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0001 a0001c0002t0041g0001	1	145	0.0069	-21	c.29 others(30): Show c.291_*311delTTTTTTTTTTTTTTTTTTTTT		SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	6/6				291	INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18_chr18_26011253_26095613	26060771	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA21309.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0104 a0001c0001t0005g0105	2	16	0.1250	-21	c.232 others(38): Show c.232-3050_232-3030delTTTTTTTTTTTTTTTTTTTTT		SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10						chr18	TogoVar
SSBP2_chr5_81407804_81756097	81496794	TTTGTAAC others(14): Show TTTGTAACACCCTGCCATAGGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0144 a0001c0001t0075g0144	1	204	0.0049	-21	c.373 others(38): Show c.373-7506_373-7486delTCCTATGGCAGGGTGTTACAA		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16						chr5	TogoVar
SSBP2_chr5_81407804_81756097	81686867	AAAAAAGA others(14): Show AAAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02280.hp1 HG02280.hp2 others(1): Show HG00099.hp2 HG02280.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 others(1): Show a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 a0001c0002t0001	a0001c0001t0007g0167 a0001c0001t0025g0186 a0001c0001t0033g0050 others(1): Show a0001c0001t0007g0167 a0001c0001t0025g0186 a0001c0001t0033g0050 a0001c0002t0001g0049	4	87	0.0460	-21	c.63- others(38): Show c.63-36549_63-36529delCTTTTCTTTTCTTTTCTTTTT		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16						chr5	TogoVar
SSBP3_chr1_54220432_54411394	54316656	AAAATAAA others(14): Show AAAATAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	268	0.0037	-21	c.277 others(40): Show c.277-35150_277-35130delATTTATTTATTTATTTTATTT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54316664	ATAAATAA others(14): Show ATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	274	0.0036	-21	c.277 others(40): Show c.277-35158_277-35138delATTTATTTATTTATTTATTTA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP4_chr19_18414398_18439562	18435791	ACTGGGTT others(14): Show ACTGGGTTGCTCTGCACCATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	300	0.0033	-21	c.15 others(32): Show c.1546_*1566delCTGGGTTGCTCTGCACCATGT		SSBP4	ENSG00000130511.16	transcript	ENST00000270061.12	protein_coding					1230		chr19	TogoVar
SSH2_chr17_29620938_29935228	29913348	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03516.hp2 HG02451.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0084 a0001c0001t0013g0085 a0001c0001t0013g0084 a0001c0001t0013g0085	2	205	0.0098	-21	c.63+ others(38): Show c.63+16569_63+16589delATATATATATATATATATATA		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
SSNA1_chr9_137183676_137195366	137184389	GGGGAGCC others(14): Show GGGGAGCCCAGACGCAGACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	-21	c.-43 others(32): Show c.-4337_-4317delGGGAGCCCAGACGCAGACACA		SSNA1	ENSG00000176101.12	transcript	ENST00000322310.10	protein_coding					4286		chr9	TogoVar
SSNA1_chr9_137183676_137195366	137184641	GCACAGGG others(14): Show GCACAGGGAGCCCAGACGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(26): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00642.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01975.hp1 HG02015.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0002 a0001c0001t0002g0007	29	386	0.0751	-21	c.-40 others(32): Show c.-4085_-4065delCACAGGGAGCCCAGACGCAGA		SSNA1	ENSG00000176101.12	transcript	ENST00000322310.10	protein_coding					4034		chr9	TogoVar
SSPN_chr12_26190573_26239777	26191687	CACACACA others(14): Show CACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0051 a0002c0003t0025 a0002c0003t0051	a0002c0003t0025g0010 a0002c0003t0025g0159 a0002c0003t0051g0010 a0002c0003t0025g0010 a0002c0003t0025g0159 a0002c0003t0051g0010	3	382	0.0079	-21	c.-39 others(32): Show c.-3985_-3965delACACACACACACACACACACA		SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding					3885		chr12	TogoVar
SSPN_chr12_26190573_26239777	26201025	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG02083.hp2 others(17): Show HG00280.hp2 HG00423.hp2 HG02083.hp2 HG02109.hp1 HG02523.hp2 HG02735.hp2 HG03516.hp1 HG04184.hp1 HG04204.hp1 NA18941.hp2 NA18953.hp1 NA18964.hp2 NA18982.hp2 NA18985.hp1 NA19056.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0040 a0001c0001t0041 others(2): Show a0001c0001t0001 a0001c0001t0040 a0001c0001t0041 a0001c0001t0066 a0001c0002t0014	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0179 a0001c0001t0001g0219 a0001c0001t0040g0181 a0001c0001t0041g0180 a0001c0001t0066g0183 a0001c0002t0014g0206	20	382	0.0524	-21	c.279 others(38): Show c.279+5088_279+5108delATATATATTATATATATATAT		SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
SSR1_chr6_7276143_7318199	7292891	TGACAGCT others(14): Show TGACAGCTAGCTCACAGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(78): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02698.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18986.hp1 NA18987.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 others(10): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0002c0005t0003	a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 others(62): Show a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0057 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0011g0010 a0001c0001t0011g0068 a0001c0001t0011g0083 a0001c0001t0011g0088 a0001c0001t0011g0090 a0001c0001t0011g0100 a0001c0001t0014g0025 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0014g0202 a0001c0001t0014g0215 a0001c0001t0014g0254 a0001c0001t0015g0009 a0001c0001t0015g0060 a0001c0001t0015g0062 a0001c0001t0015g0087 a0001c0001t0016g0069 a0001c0001t0016g0071 a0001c0001t0016g0073 a0001c0001t0016g0078 a0001c0001t0016g0085 a0001c0001t0020g0079 a0001c0001t0020g0081 a0001c0001t0020g0086 a0001c0001t0020g0097 a0001c0001t0021g0106 a0001c0001t0021g0107 a0001c0001t0021g0108 a0001c0001t0021g0110 a0001c0001t0032g0018 a0001c0001t0043g0055 a0001c0001t0044g0061 a0001c0001t0045g0074 a0001c0001t0050g0109 a0002c0005t0003g0056	81	432	0.1875	-21	c.793 others(38): Show c.793+2480_793+2500delTCTTTCTGTGAGCTAGCTGTC		SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding	7/7						chr6	TogoVar
SSTR1_chr14_38202904_38218067	38213084	GAATTTTA others(14): Show GAATTTTATTGTTTCAATGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	-21	c.25 others(32): Show c.2520_*2540delAATTTTATTGTTTCAATGGAT		SSTR1	ENSG00000139874.6	transcript	ENST00000267377.3	protein_coding					18		chr14	TogoVar
SSU72L1_chr11_4333245_4344345	4335340	CAGAGGGA others(14): Show CAGAGGGAGACCAGGGAGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA20905.hp2 NA19068.hp2 NA20905.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0000 a0006c0007t0009g0000	2	340	0.0059	-21	c.32 others(32): Show c.3299_*3319delCCCTCTCCCTGGTCTCCCTCT		SSU72L1	ENSG00000284438.2	transcript	ENST00000524542.3	protein_coding					2904		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4335340	CAGAGGGA others(14): Show CAGAGGGAGACCAGGGAGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02155.hp2 HG02615.hp2 others(2): Show HG02080.hp2 HG02155.hp2 HG02615.hp2 NA19007.hp2 NA20905.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0000 a0007c0007t0006g0000	5	338	0.0148	-21	c.48 others(32): Show c.4892_*4912delAGAGGGAGACCAGGGAGAGGG		SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding					4477		chr11	TogoVar
SSU72_chr1_1536673_1579863	1571244	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20905.hp2 HG03486.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0266 a0001c0002t0002g0278 a0001c0001t0004g0266 a0001c0002t0002g0278	2	29	0.0690	-21	c.80+ others(36): Show c.80+3213_80+3233delTTTTTTTTTTTTTTTTTTTTT		SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/4						chr1	TogoVar
ST3GAL1_chr8_133449848_133576887	133576572	ACAAAAAA others(14): Show ACAAAAAACAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	320	0.0031	-21	c.-54 others(32): Show c.-5482_-5462delGTTTTTTTTTTTTGTTTTTTG		ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding					4686		chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70389202	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0091 a0001c0001t0006g0091	1	13	0.0769	-21	c.534 others(36): Show c.534-677_534-657delTTTTTTTTTTTTTTTTTTTTT		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	3/6						chr16	TogoVar
ST3GAL2_chr16_70370977_70444100	70408890	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	19	0.0526	-21	c.-10 others(42): Show c.-1003-9378_-1003-9358delTTTTTTTTTTTTTTTTTTTTT		ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6						chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43875897	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(21): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG02074.hp1 HG02523.hp2 HG02818.hp1 HG02896.hp1 HG03704.hp2 NA18906.hp2 NA18942.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19062.hp2 NA19074.hp2 NA19090.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0239 a0001c0001t0001g0264 a0001c0001t0001g0265 others(21): Show a0001c0001t0001g0239 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0008 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0149 a0001c0001t0004g0020 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0008g0036 a0001c0001t0009g0037	24	172	0.1395	-21	c.303 others(40): Show c.303-18451_303-18431delCTTCTTCTTCTTCTTCTTCTT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875932	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTCTTCTTA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01496.hp2 others(4): Show HG00741.hp1 HG01243.hp1 HG01496.hp2 HG02647.hp2 HG02809.hp2 HG03516.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0176 a0001c0001t0001g0245 a0001c0001t0001g0262 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0004g0035 a0001c0001t0007g0063	7	250	0.0280	-21	c.303 others(40): Show c.303-18448_303-18428delCTTCTTCTTCTTCTTCTTATT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875935	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTCTTATTA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	255	0.0039	-21	c.303 others(40): Show c.303-18445_303-18425delCTTCTTCTTCTTCTTATTATT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875938	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTATTATTA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18946.hp1 NA19005.hp2 others(2): Show HG00673.hp1 NA18946.hp1 NA19005.hp2 NA19068.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0023 a0001c0001t0002g0083 a0001c0001t0002g0100 others(2): Show a0001c0001t0002g0023 a0001c0001t0002g0083 a0001c0001t0002g0100 a0001c0001t0003g0130 a0001c0001t0004g0030	5	252	0.0198	-21	c.303 others(40): Show c.303-18442_303-18422delCTTCTTCTTCTTATTATTATT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875941	CTTCTTCT others(14): Show CTTCTTCTTCTTATTATTATTA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	253	0.0040	-21	c.303 others(40): Show c.303-18439_303-18419delCTTCTTCTTATTATTATTATT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL5_chr2_85832120_85893990	85852920	CGGTTTGA others(14): Show CGGTTTGAAGATGCTGGTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	368	0.0027	-21	c.319 others(38): Show c.319-4737_319-4717delAGGCACCAGCATCTTCAAACC		ST3GAL5	ENSG00000115525.18	transcript	ENST00000638572.2	protein_coding	3/6						chr2	TogoVar
ST6GAL2_chr2_106796600_106891167	106805558	AAACATAT others(14): Show AAACATATCTGCAAAAGCAAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0090 a0003c0005t0090	a0003c0005t0090g0195 a0003c0005t0090g0195	1	370	0.0027	-21	c.10 others(32): Show c.1099_*1119delCCTTGCTTTTGCAGATATGTT		ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	6/6				1099		chr2	TogoVar
ST6GAL2_chr2_106796600_106891167	106888577	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG03139.hp1 HG03516.hp2 HG01099.hp2 HG03139.hp1 HG03516.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0030 a0002c0027 a0004c0011 a0001c0030 a0002c0027 a0004c0011	a0001c0030t0061 a0002c0027t0021 a0004c0011t0089 a0001c0030t0061 a0002c0027t0021 a0004c0011t0089	a0001c0030t0061g0015 a0002c0027t0021g0326 a0004c0011t0089g0327 a0001c0030t0061g0015 a0002c0027t0021g0326 a0004c0011t0089g0327	3	110	0.0273	-21	c.-25 others(32): Show c.-2563_-2543delTTTTTTTTTTTTTTTTTTTTT		ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding					2411		chr2	TogoVar
ST6GALNAC2_chr17_76560377_76590860	76590033	GTTTTTTT others(14): Show GTTTTTTTTTCTTTCTTACTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02083.hp1 others(9): Show HG00738.hp1 HG01243.hp1 HG02083.hp1 HG02145.hp1 HG02559.hp1 HG02809.hp2 HG02895.hp1 HG03195.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0010t0001	a0001c0001t0003g0045 a0001c0001t0004g0062 a0001c0001t0005g0009 others(5): Show a0001c0001t0003g0045 a0001c0001t0004g0062 a0001c0001t0005g0009 a0001c0001t0009g0015 a0001c0001t0009g0152 a0001c0001t0017g0144 a0001c0001t0017g0145 a0001c0010t0001g0142	12	76	0.1579	-21	c.-42 others(32): Show c.-4246_-4226delACAGTAAGAAAGAAAAAAAAA		ST6GALNAC2	ENSG00000070731.11	transcript	ENST00000225276.10	protein_coding					4174		chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016140	CTCCCCTC others(14): Show CTCCCCTCCTGTATCTTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0140 a0001c0001t0011g0140	1	200	0.0050	-21	c.262 others(40): Show c.262-28063_262-28043delTCCCCTCCTGTATCTTCCCCT		ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4						chr1	TogoVar
ST7L_chr1_112518514_112624141	112599074	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0204 a0001c0001t0008g0204	1	237	0.0042	-21	c.507 others(37): Show c.507-1009_507-989delATATATATATATATATATATA		ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	4/14						chr1	TogoVar

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