Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SRP54_chr14_34977992_35034567	35023787	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp2 others(27): Show HG00099.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01993.hp2 HG02015.hp1 HG02074.hp1 HG02145.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02735.hp1 HG03471.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 NA18941.hp2 NA18955.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA19070.hp2 NA19081.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0003g0176 a0001c0001t0003g0209 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0080	30	396	0.0758	8	c.132 others(25): Show c.1327+736_1327+743dupACACACAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062723	T T	TATTATAC others(1): Show TATTATACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG01934.hp1 others(3): Show HG00099.hp1 HG00609.hp2 HG01934.hp1 NA18986.hp1 NA19002.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0092 a0001c0001t0002g0106 others(3): Show a0001c0001t0002g0069 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0169	6	365	0.0164	8	c.562 others(25): Show c.562-1150_562-1149insTGTATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76070850	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01081.hp2 others(23): Show HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02109.hp2 HG02155.hp1 HG02630.hp1 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG03540.hp1 NA18939.hp2 NA18966.hp1 NA18975.hp2 NA19002.hp2 NA19088.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0032 others(22): Show a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0181	26	365	0.0712	8	c.185 others(23): Show c.185-414_185-407dupTGTGTGTG	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56475403	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02109.hp1 others(20): Show HG01243.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 others(2): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0016t0006	a0001c0001t0006g0035 a0001c0001t0006g0169 a0001c0001t0006g0170 others(20): Show a0001c0001t0006g0035 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0006g0174 a0001c0001t0006g0176 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0216 a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0006g0293 a0001c0001t0010g0060 a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0021g0168 a0001c0016t0006g0035	23	388	0.0593	8	c.610 others(25): Show c.610+1013_610+1020dupATATATAT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00735.hp2 others(48): Show HG00423.hp2 HG00438.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp2 HG01496.hp1 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02165.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03654.hp2 HG03942.hp2 HG04184.hp2 NA18940.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp2 NA18978.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0008 a0003c0005 a0006c0012 a0008c0013	a0001c0001t0006 a0001c0001t0011 a0001c0001t0030 others(9): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0030 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0003t0002 a0001c0006t0005 a0002c0008t0019 a0003c0005t0024 a0006c0012t0002 a0008c0013t0002	a0001c0001t0006g0178 a0001c0001t0006g0183 a0001c0001t0006g0291 others(40): Show a0001c0001t0006g0178 a0001c0001t0006g0183 a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0011g0223 a0001c0001t0011g0226 a0001c0001t0030g0175 a0001c0002t0005g0007 a0001c0002t0005g0232 a0001c0002t0005g0233 a0001c0002t0005g0234 a0001c0002t0005g0240 a0001c0002t0005g0242 a0001c0002t0005g0243 a0001c0002t0005g0259 a0001c0002t0005g0260 a0001c0002t0007g0007 a0001c0002t0007g0238 a0001c0002t0007g0241 a0001c0002t0008g0043 a0001c0002t0008g0236 a0001c0003t0002g0004 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0136 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0006t0005g0229 a0001c0006t0005g0246 a0001c0006t0005g0252 a0001c0006t0005g0253 a0002c0008t0019g0056 a0003c0005t0024g0043 a0006c0012t0002g0156 a0008c0013t0002g0004	51	388	0.1314	8	c.958 others(23): Show c.958-692_958-685dupTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP72_chr4_56462617_56508681	56506786	T T	TTGTGTGT others(1): Show TTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01516.hp1 HG02083.hp2 others(3): Show HG01361.hp1 HG01516.hp1 HG02083.hp2 NA18906.hp2 NA19010.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0012 a0002c0007t0001 a0001c0001t0001 a0001c0001t0012 a0002c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0122 a0001c0001t0012g0025 a0002c0007t0001g0098	6	388	0.0155	8	c.49 others(19): Show c.4925_*4926insTGTGTGTG	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding		3106		chr4	TogoVar
SRP72_chr4_56462617_56508681	56506786	T T	TTTTGTGT others(1): Show TTTTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG03579.hp2 NA18522.hp2 HG01167.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0016g0019 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0016g0019	3	388	0.0077	8	c.49 others(19): Show c.4925_*4926insTTTGTGTG	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding		3106		chr4	TogoVar
SRP9_chr1_225772826_225795464	225775878	C C	CACACACA others(1): Show CACACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01192.hp1 others(15): Show HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01884.hp1 HG01884.hp2 HG02148.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03654.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0250 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0046 a0001c0001t0002g0128	18	474	0.0380	8	c.-20 others(19): Show c.-2063_-2062insACACACAG	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding		1947		chr1	TogoVar
SRPK1_chr6_35827966_35926098	35832248	A A	ATATATAT others(1): Show ATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01891.hp2 HG02109.hp1 others(12): Show HG01516.hp2 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 others(12): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0223	15	342	0.0439	8	c.30 others(19): Show c.3055_*3056insAATATATA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		717		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35832248	A A	ATATTTAT others(1): Show ATATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG01109.hp2 others(30): Show HG00558.hp2 HG00733.hp2 HG01109.hp2 HG01884.hp2 HG01993.hp1 HG02055.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG04184.hp1 HG06807.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18961.hp1 NA18970.hp2 NA18987.hp2 NA19065.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0001t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 others(30): Show a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0195 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0251 a0001c0002t0002g0273 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0315 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0007g0284	33	342	0.0965	8	c.30 others(19): Show c.3048_*3055dupAATAAATA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		717		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35855989	A A	AGTTGGTA others(1): Show AGTTGGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp2 others(50): Show HG00323.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 NA18944.hp2 NA18952.hp2 NA18959.hp1 NA18965.hp1 NA18971.hp2 NA18977.hp2 NA18994.hp1 NA18998.hp2 NA19004.hp1 NA19009.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19086.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0011 a0007c0010t0001 a0001c0001t0001 a0001c0001t0011 a0007c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0070 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0335 a0001c0001t0011g0089 a0007c0010t0001g0083	53	342	0.1550	8	c.162 others(27): Show c.1620+1271_1620+1272insATACCAAC	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	13/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG00738.hp1 others(69): Show HG00544.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02135.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03490.hp1 HG03491.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 others(1): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0019	a0001c0002t0002g0004 a0001c0002t0002g0234 a0001c0002t0002g0238 others(68): Show a0001c0002t0002g0004 a0001c0002t0002g0234 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0331 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0007g0284 a0001c0002t0008g0248 a0001c0002t0019g0292	72	342	0.2105	8	c.478 others(25): Show c.478+5981_478+5982insCTTTCTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35885260	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02559.hp1 HG02572.hp2 others(3): Show HG00558.hp1 HG02559.hp1 HG02572.hp2 HG02698.hp1 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0065 a0001c0001t0001g0160 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0216 a0001c0001t0015g0041	6	342	0.0175	8	c.478 others(25): Show c.478+1456_478+1463dupGTGTGTGT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35916225	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp2 others(70): Show HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02135.hp2 HG02300.hp2 HG02683.hp1 HG02735.hp2 HG02922.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18961.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0003 a0001c0002t0002 a0001c0002t0007 others(3): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0019 a0004c0008t0005	a0001c0001t0003g0034 a0001c0002t0002g0004 a0001c0002t0002g0234 others(69): Show a0001c0001t0003g0034 a0001c0002t0002g0004 a0001c0002t0002g0234 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0007g0284 a0001c0002t0008g0248 a0001c0002t0019g0292 a0004c0008t0005g0236	73	342	0.2135	8	c.74+ others(23): Show c.74+4235_74+4242dupATTTATTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105129539	T T	TAATTTTT others(1): Show TAATTTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00621.hp2 others(61): Show HG00099.hp2 HG00280.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA19011.hp2 NA19240.hp1 NA20805.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003 a0004c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0072 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0164 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0163 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0011g0273 a0001c0002t0003g0041 a0004c0005t0001g0269	64	282	0.2270	8	c.175 others(27): Show c.1753-2478_1753-2477insTAAAAATT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	13/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105159466	A A	AAAAAAAA others(1): Show AAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01074.hp1 others(20): Show HG00099.hp1 HG00280.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG01433.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18747.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0158 others(20): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0163 a0001c0001t0006g0165 a0001c0001t0006g0173	23	282	0.0816	8	c.621 others(25): Show c.621+1033_621+1040dupGTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105168745	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(41): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG02015.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG03130.hp2 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18954.hp1 NA18960.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19002.hp2 NA19043.hp1 NA19058.hp1 NA19078.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 others(41): Show a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0002g0163 a0001c0001t0003g0151 a0001c0001t0009g0154	44	282	0.1560	8	c.338 others(23): Show c.338+404_338+411dupCACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	4/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170745	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02818.hp1 others(6): Show HG02451.hp2 HG02572.hp1 HG02818.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0208	9	282	0.0319	8	c.230 others(25): Show c.230-1488_230-1481dupTCCTTCCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170745	G G	GAGGGAGG others(1): Show GAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG02559.hp2 others(3): Show HG01175.hp1 HG01891.hp2 HG02559.hp2 HG02615.hp2 HG03041.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030	6	282	0.0213	8	c.230 others(25): Show c.230-1481_230-1480insTCCTCCCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170934	G G	GGAAAGAA others(1): Show GGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18985.hp2 NA19011.hp1 others(1): Show HG03710.hp1 NA18985.hp2 NA19011.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0094 a0001c0001t0001g0096	4	282	0.0142	8	c.230 others(25): Show c.230-1677_230-1670dupTTTCTTTC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105176621	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00738.hp1 others(58): Show HG00423.hp2 HG00438.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18999.hp2 NA19002.hp2 NA19043.hp1 NA19058.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0003c0006t0001	a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0127 others(58): Show a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0151 a0001c0001t0009g0154 a0003c0006t0001g0144	61	282	0.2163	8	c.230 others(25): Show c.230-7357_230-7356insTATATACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105176621	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03486.hp2 HG02622.hp2 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210	3	282	0.0106	8	c.230 others(25): Show c.230-7357_230-7356insTATACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105233091	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01069.hp2 others(25): Show HG00280.hp1 HG00621.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp2 HG01255.hp2 HG01358.hp1 HG01975.hp2 HG01978.hp2 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02897.hp1 HG03209.hp2 HG03486.hp2 HG03834.hp1 NA18612.hp1 NA18945.hp1 NA19011.hp2 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0210 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0227 a0001c0001t0002g0253	28	282	0.0993	8	c.72- others(25): Show c.72-29314_72-29307dupCTTCCTTC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105245034	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02071.hp2 HG02132.hp2 others(5): Show HG01346.hp2 HG02071.hp2 HG02132.hp2 HG02451.hp2 HG03041.hp1 HG03098.hp1 NA18906.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0241 a0001c0001t0001g0280 a0001c0001t0002g0233	8	282	0.0284	8	c.72- others(25): Show c.72-41257_72-41250dupGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247531	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01167.hp1 others(12): Show HG00438.hp2 HG00639.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02559.hp2 HG03041.hp2 NA18522.hp2 NA18956.hp2 NA18989.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(12): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0197 a0001c0001t0006g0165 a0001c0001t0006g0173	15	282	0.0532	8	c.72- others(25): Show c.72-43754_72-43747dupGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105312437	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG02015.hp2 others(12): Show HG00738.hp2 HG01192.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp2 HG02145.hp1 HG02280.hp2 HG02976.hp2 HG03486.hp2 HG03579.hp1 HG04115.hp1 NA18522.hp1 NA18943.hp2 NA19030.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0027 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0282	15	282	0.0532	8	c.71+ others(25): Show c.71+76203_71+76210dupTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105323967	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp2 HG02109.hp2 others(7): Show HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02615.hp2 HG02630.hp2 HG02922.hp1 HG03486.hp1 HG04199.hp1 NA18747.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0213	10	282	0.0355	8	c.71+ others(25): Show c.71+64673_71+64680dupCACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105331308	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02559.hp2 others(4): Show HG01243.hp2 HG01884.hp1 HG02559.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0223 a0001c0001t0007g0007	7	282	0.0248	8	c.71+ others(25): Show c.71+57332_71+57339dupTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105383052	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG03471.hp1 others(2): Show HG02145.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0102 a0001c0001t0001g0221 a0001c0001t0001g0223	5	282	0.0177	8	c.71+ others(23): Show c.71+5595_71+5596insAAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105390428	C C	CTATTTAT others(1): Show CTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03017.hp2 others(10): Show HG02055.hp2 HG02965.hp1 HG03017.hp2 HG03225.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp1 NA18989.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0001t0001 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 others(10): Show a0001c0001t0001g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0116	13	282	0.0461	8	c.-16 others(19): Show c.-1630_-1623dupAATAAATA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding		1508		chr7	TogoVar
SRPK2_chr7_105111374_105393921	105391183	A A	AATTTATT others(1): Show AATTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(58): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp1 HG01081.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02976.hp1 HG03130.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18971.hp2 NA18977.hp2 NA18984.hp2 NA18985.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 others(58): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0004g0044 a0001c0001t0004g0053 a0001c0001t0004g0076 a0001c0001t0004g0107 a0001c0001t0008g0080 a0001c0004t0001g0217 a0002c0003t0001g0033	61	282	0.2163	8	c.-23 others(19): Show c.-2385_-2378dupAAATAAAT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding		2263		chr7	TogoVar
SRPRB_chr3_133800815_133826492	133818785	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01257.hp1 HG01952.hp2 others(8): Show HG01123.hp1 HG01257.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02486.hp2 HG02717.hp1 HG02723.hp1 NA18980.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0048 a0001c0001t0001g0157 a0001c0001t0001g0182 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0157 a0001c0001t0001g0182 a0001c0001t0002g0054 a0001c0001t0002g0139 a0002c0002t0001g0032 a0002c0002t0004g0057	11	446	0.0247	8	c.603 others(23): Show c.603-737_603-730dupGTGTGTGT	SRPRB	ENSG00000144867.13	transcript	ENST00000678299.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00544.hp1 others(44): Show HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00735.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18971.hp1 NA18975.hp1 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA19010.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0001t0042	a0001c0001t0001g0152 a0001c0001t0002g0221 a0001c0001t0003g0003 others(36): Show a0001c0001t0001g0152 a0001c0001t0002g0221 a0001c0001t0003g0003 a0001c0001t0003g0042 a0001c0001t0003g0091 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0193 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0243 a0001c0001t0004g0246 a0001c0001t0004g0274 a0001c0001t0006g0242 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0007g0234 a0001c0001t0011g0244 a0001c0001t0011g0245 a0001c0001t0014g0020 a0001c0001t0015g0248 a0001c0001t0018g0048 a0001c0001t0025g0250 a0001c0001t0026g0237 a0001c0001t0028g0256 a0001c0001t0030g0277 a0001c0001t0036g0154 a0001c0001t0042g0153	47	318	0.1478	8	c.164 others(25): Show c.164-4815_164-4808dupTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRPX2_chrX_100639199_100680788	100675889	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(72): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00738.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG03239.hp2 HG03471.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(67): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0006g0229 a0001c0001t0006g0231 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0259 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0017g0189 a0001c0001t0017g0191 a0001c0001t0019g0014 a0001c0001t0019g0196 a0001c0001t0028g0256 a0001c0001t0029g0260 a0001c0001t0031g0010 a0001c0001t0039g0269 a0001c0001t0042g0153 a0001c0001t0045g0041 a0001c0001t0046g0180 a0001c0001t0049g0202	75	318	0.2359	8	c.49 others(19): Show c.4902_*4903insACACACAC	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding		102		chrX	TogoVar
SRPX_chrX_38144339_38225871	38146208	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	257	0.0039	8	c.35 others(19): Show c.3502_*3503insGTGTGTGT	SRPX	ENSG00000101955.15	transcript	ENST00000378533.4	protein_coding		3130		chrX	TogoVar
SRRD_chr22_26478877_26499658	26490559	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(68): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00741.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp2 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18960.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA18981.hp1 NA18991.hp2 NA18998.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0003c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0090 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0005g0019 a0001c0001t0007g0001 a0001c0001t0007g0041 a0001c0001t0024g0083 a0001c0001t0025g0001 a0001c0001t0028g0001 a0003c0004t0002g0001	71	448	0.1585	8	c.764 others(23): Show c.764+376_764+383dupTTTTTTTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG02145.hp2 others(11): Show HG01192.hp2 HG01884.hp2 HG02145.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03471.hp2 HG03710.hp2 NA18522.hp1 NA19006.hp2 NA19070.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0141 a0001c0001t0002g0069 a0001c0001t0002g0095 others(11): Show a0001c0001t0001g0141 a0001c0001t0002g0069 a0001c0001t0002g0095 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0049 a0001c0001t0003g0050 a0003c0005t0001g0299	14	352	0.0398	8	c.726 others(23): Show c.726-378_726-371dupATATATAT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM3_chr7_76196896_76292287	76255148	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp1 HG01258.hp1 others(23): Show HG00639.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 NA18939.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18982.hp1 NA18991.hp2 NA18998.hp1 NA19004.hp2 NA19012.hp2 NA19057.hp2 NA19066.hp2 NA19080.hp2 NA19091.hp1 NA20805.hp1	a0001 a0010 a0018 a0001 a0010 a0018	a0001c0001 a0010c0026 a0018c0024 a0001c0001 a0010c0026 a0018c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0010c0026t0001 a0018c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0253 a0001c0001t0002g0264 a0001c0001t0003g0185 a0010c0026t0001g0206 a0018c0024t0001g0159	26	324	0.0803	8	c.336 others(25): Show c.336-4746_336-4739dupTTTTTTTT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76263875	G G	GCCAAAAA others(1): Show GCCAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 HG02523.hp2 others(7): Show HG02055.hp1 HG02129.hp1 HG02523.hp2 HG02965.hp1 HG02965.hp2 HG04228.hp2 NA18943.hp1 NA18945.hp1 NA18955.hp1 NA19074.hp2	a0001 a0011 a0019 a0001 a0011 a0019	a0001c0001 a0011c0032 a0019c0030 a0001c0001 a0011c0032 a0019c0030	a0001c0001t0001 a0011c0032t0001 a0019c0030t0001 a0001c0001t0001 a0011c0032t0001 a0019c0030t0001	a0001c0001t0001g0146 a0001c0001t0001g0190 a0001c0001t0001g0195 others(7): Show a0001c0001t0001g0146 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0278 a0011c0032t0001g0200 a0019c0030t0001g0198	10	324	0.0309	8	c.675 others(23): Show c.675-890_675-889insCCAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	8/14			chr7	TogoVar
SRRM4_chr12_118976541_119168051	118998268	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02572.hp1 HG02809.hp1 others(3): Show HG01071.hp2 HG02572.hp1 HG02809.hp1 NA18972.hp2 NA19030.hp2 NA19056.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0006c0006	a0001c0001t0002 a0001c0001t0019 a0003c0003t0006 others(3): Show a0001c0001t0002 a0001c0001t0019 a0003c0003t0006 a0003c0003t0114 a0005c0005t0012 a0006c0006t0008	a0001c0001t0002g0059 a0001c0001t0019g0055 a0003c0003t0006g0108 others(3): Show a0001c0001t0002g0059 a0001c0001t0019g0055 a0003c0003t0006g0108 a0003c0003t0114g0197 a0005c0005t0012g0304 a0006c0006t0008g0100	6	328	0.0183	8	c.131 others(27): Show c.131+16279_131+16286dupAAAAAAAA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119043775	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02257.hp2 others(7): Show HG01109.hp2 HG01884.hp2 HG02257.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp1 HG02970.hp2 HG03041.hp1 HG03486.hp1 NA19002.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0011	a0001c0001 a0001c0011 a0004c0004 others(2): Show a0001c0001 a0001c0011 a0004c0004 a0008c0023 a0011c0024	a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 others(7): Show a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026 a0001c0001t0106 a0001c0001t0116 a0001c0011t0018 a0004c0004t0045 a0008c0023t0062 a0011c0024t0128	a0001c0001t0010g0264 a0001c0001t0018g0119 a0001c0001t0024g0266 others(7): Show a0001c0001t0010g0264 a0001c0001t0018g0119 a0001c0001t0024g0266 a0001c0001t0026g0208 a0001c0001t0106g0112 a0001c0001t0116g0114 a0001c0011t0018g0220 a0004c0004t0045g0054 a0008c0023t0062g0004 a0011c0024t0128g0194	10	328	0.0305	8	c.132 others(27): Show c.132-58435_132-58428dupCACACACA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119117596	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00558.hp2 others(46): Show HG00099.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00741.hp2 HG01169.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18956.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18999.hp1 NA19007.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0021 a0002c0002 others(1): Show a0001c0001 a0001c0021 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0042 a0001c0001t0047 a0001c0001t0067 a0001c0001t0072 a0001c0001t0083 a0001c0001t0086 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0099 a0001c0001t0102 a0001c0001t0119 a0001c0001t0123 a0001c0001t0148 a0001c0001t0150 a0001c0001t0151 a0001c0021t0003 a0002c0002t0005 a0002c0002t0025 a0002c0002t0030 a0002c0002t0041 a0002c0002t0081 a0002c0002t0095 a0002c0002t0141 a0003c0003t0006 a0003c0003t0013 a0003c0003t0017	a0001c0001t0002g0136 a0001c0001t0002g0286 a0001c0001t0003g0002 others(45): Show a0001c0001t0002g0136 a0001c0001t0002g0286 a0001c0001t0003g0002 a0001c0001t0003g0154 a0001c0001t0003g0190 a0001c0001t0003g0202 a0001c0001t0003g0222 a0001c0001t0006g0148 a0001c0001t0006g0158 a0001c0001t0006g0297 a0001c0001t0011g0038 a0001c0001t0011g0280 a0001c0001t0016g0293 a0001c0001t0016g0309 a0001c0001t0016g0326 a0001c0001t0020g0022 a0001c0001t0023g0317 a0001c0001t0024g0040 a0001c0001t0042g0087 a0001c0001t0047g0147 a0001c0001t0047g0209 a0001c0001t0067g0246 a0001c0001t0072g0029 a0001c0001t0083g0296 a0001c0001t0086g0279 a0001c0001t0090g0237 a0001c0001t0091g0282 a0001c0001t0093g0276 a0001c0001t0099g0195 a0001c0001t0102g0063 a0001c0001t0119g0016 a0001c0001t0123g0201 a0001c0001t0148g0231 a0001c0001t0150g0238 a0001c0001t0151g0245 a0001c0021t0003g0256 a0002c0002t0005g0177 a0002c0002t0005g0181 a0002c0002t0025g0247 a0002c0002t0030g0182 a0002c0002t0041g0248 a0002c0002t0081g0020 a0002c0002t0095g0325 a0002c0002t0141g0082 a0003c0003t0006g0108 a0003c0003t0013g0104 a0003c0003t0017g0312 a0003c0003t0017g0324	49	328	0.1494	8	c.437 others(23): Show c.437+600_437+607dupACACACAC	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119122244	A A	AAGGAAGG others(1): Show AAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01168.hp2 HG01169.hp2 others(14): Show HG00673.hp2 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG02004.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02280.hp1 HG02622.hp1 HG02809.hp1 HG03516.hp1 HG03579.hp2 HG03834.hp2 NA18961.hp1 NA19074.hp2 NA19083.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0007 a0001c0008 others(5): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0002c0026 a0003c0003 a0003c0025 a0008c0015	a0001c0001t0018 a0001c0001t0019 a0001c0001t0033 others(13): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0033 a0001c0001t0052 a0001c0001t0072 a0001c0001t0084 a0001c0001t0115 a0001c0001t0144 a0001c0007t0071 a0001c0008t0044 a0002c0002t0008 a0002c0002t0137 a0002c0026t0025 a0003c0003t0006 a0003c0025t0059 a0008c0015t0063	a0001c0001t0018g0044 a0001c0001t0019g0055 a0001c0001t0033g0271 others(14): Show a0001c0001t0018g0044 a0001c0001t0019g0055 a0001c0001t0033g0271 a0001c0001t0052g0166 a0001c0001t0072g0029 a0001c0001t0084g0205 a0001c0001t0115g0122 a0001c0001t0144g0305 a0001c0007t0071g0026 a0001c0008t0044g0132 a0001c0008t0044g0210 a0002c0002t0008g0118 a0002c0002t0137g0178 a0002c0026t0025g0027 a0003c0003t0006g0180 a0003c0025t0059g0035 a0008c0015t0063g0034	17	328	0.0518	8	c.515 others(23): Show c.515+172_515+179dupCAGGAAGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119122292	C C	CAGGAAGG others(1): Show CAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02683.hp2 HG02895.hp1 others(9): Show HG01884.hp1 HG02683.hp2 HG02895.hp1 HG03041.hp1 HG03041.hp2 HG06807.hp2 NA18964.hp1 NA18966.hp1 NA18984.hp2 NA18999.hp2 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0001t0029 a0001c0001t0043 a0001c0001t0048 a0001c0001t0096 a0001c0001t0111 a0001c0001t0112 a0002c0002t0054	a0001c0001t0001g0161 a0001c0001t0006g0169 a0001c0001t0016g0326 others(9): Show a0001c0001t0001g0161 a0001c0001t0006g0169 a0001c0001t0016g0326 a0001c0001t0018g0119 a0001c0001t0026g0117 a0001c0001t0029g0109 a0001c0001t0043g0098 a0001c0001t0048g0076 a0001c0001t0096g0196 a0001c0001t0111g0088 a0001c0001t0112g0061 a0002c0002t0054g0217	12	328	0.0366	8	c.515 others(23): Show c.515+212_515+219dupAAGGAAGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119129872	A A	AATGGATG others(1): Show AATGGATGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01070.hp1 others(28): Show HG00280.hp2 HG00323.hp2 HG01070.hp1 HG01106.hp2 HG01952.hp2 HG02027.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG02970.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03942.hp1 HG04204.hp1 NA18941.hp2 NA18954.hp2 NA18955.hp1 NA18984.hp2 NA19011.hp2 NA19030.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0001c0021 others(1): Show a0001c0001 a0001c0011 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0093 a0001c0001t0097 a0001c0001t0100 a0001c0001t0101 a0001c0001t0104 a0001c0001t0108 a0001c0001t0113 a0001c0001t0123 a0001c0001t0127 a0001c0001t0145 a0001c0001t0147 a0001c0001t0149 a0001c0001t0150 a0001c0011t0018 a0001c0021t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0021	a0001c0001t0001g0105 a0001c0001t0001g0153 a0001c0001t0001g0219 others(28): Show a0001c0001t0001g0105 a0001c0001t0001g0153 a0001c0001t0001g0219 a0001c0001t0002g0051 a0001c0001t0003g0065 a0001c0001t0006g0169 a0001c0001t0013g0062 a0001c0001t0016g0293 a0001c0001t0016g0309 a0001c0001t0028g0143 a0001c0001t0049g0235 a0001c0001t0050g0071 a0001c0001t0058g0033 a0001c0001t0093g0276 a0001c0001t0097g0009 a0001c0001t0100g0173 a0001c0001t0101g0192 a0001c0001t0104g0079 a0001c0001t0108g0133 a0001c0001t0113g0110 a0001c0001t0123g0201 a0001c0001t0127g0199 a0001c0001t0145g0203 a0001c0001t0147g0116 a0001c0001t0149g0115 a0001c0001t0150g0238 a0001c0011t0018g0220 a0001c0021t0003g0256 a0002c0002t0008g0198 a0002c0002t0009g0275 a0002c0002t0021g0021	31	328	0.0945	8	c.615 others(23): Show c.615-765_615-758dupATGGATGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119130409	A A	AGATGGAT others(1): Show AGATGGATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01070.hp1 others(33): Show HG00099.hp1 HG00323.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01258.hp2 HG01346.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG02148.hp2 HG02273.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18906.hp2 NA18941.hp2 NA18956.hp1 NA18979.hp2 NA18984.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19083.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028 a0001c0001t0049 a0001c0001t0067 a0001c0001t0093 a0001c0001t0100 a0001c0001t0113 a0001c0001t0118 a0001c0001t0123 a0001c0001t0127 a0001c0001t0131 a0001c0001t0145 a0001c0001t0151 a0001c0001t0153 a0002c0002t0005 a0002c0002t0008 a0002c0002t0030 a0002c0002t0041 a0002c0002t0081 a0002c0002t0141 a0002c0002t0156	a0001c0001t0001g0153 a0001c0001t0003g0065 a0001c0001t0003g0154 others(33): Show a0001c0001t0001g0153 a0001c0001t0003g0065 a0001c0001t0003g0154 a0001c0001t0003g0190 a0001c0001t0003g0202 a0001c0001t0004g0077 a0001c0001t0006g0169 a0001c0001t0007g0111 a0001c0001t0011g0038 a0001c0001t0011g0255 a0001c0001t0011g0280 a0001c0001t0013g0062 a0001c0001t0016g0293 a0001c0001t0016g0309 a0001c0001t0028g0080 a0001c0001t0049g0235 a0001c0001t0067g0246 a0001c0001t0093g0276 a0001c0001t0100g0173 a0001c0001t0113g0110 a0001c0001t0118g0125 a0001c0001t0123g0201 a0001c0001t0127g0199 a0001c0001t0131g0126 a0001c0001t0145g0203 a0001c0001t0151g0245 a0001c0001t0153g0249 a0002c0002t0005g0142 a0002c0002t0005g0175 a0002c0002t0008g0049 a0002c0002t0008g0198 a0002c0002t0030g0182 a0002c0002t0041g0248 a0002c0002t0081g0020 a0002c0002t0141g0082 a0002c0002t0156g0241	36	328	0.1098	8	c.615 others(23): Show c.615-239_615-232dupATGGATGG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119130424	T T	TGGATGGA others(1): Show TGGATGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01168.hp2 others(26): Show HG00438.hp2 HG00544.hp1 HG01168.hp2 HG01169.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02109.hp2 HG02155.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03471.hp1 HG03579.hp2 HG03688.hp1 NA18612.hp2 NA18953.hp1 NA18972.hp2 NA18975.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19009.hp2 NA19070.hp2 NA19079.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0011	a0001c0001 a0001c0008 a0001c0009 others(5): Show a0001c0001 a0001c0008 a0001c0009 a0001c0011 a0002c0002 a0005c0005 a0008c0015 a0011c0024	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(19): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0043 a0001c0001t0050 a0001c0001t0108 a0001c0001t0109 a0001c0001t0116 a0001c0001t0122 a0001c0008t0044 a0001c0009t0124 a0001c0011t0068 a0002c0002t0005 a0002c0002t0025 a0002c0002t0095 a0002c0002t0138 a0005c0005t0012 a0005c0005t0075 a0008c0015t0063 a0011c0024t0128	a0001c0001t0003g0159 a0001c0001t0004g0102 a0001c0001t0004g0121 others(26): Show a0001c0001t0003g0159 a0001c0001t0004g0102 a0001c0001t0004g0121 a0001c0001t0004g0189 a0001c0001t0007g0185 a0001c0001t0014g0204 a0001c0001t0018g0007 a0001c0001t0018g0119 a0001c0001t0043g0006 a0001c0001t0043g0098 a0001c0001t0050g0003 a0001c0001t0108g0133 a0001c0001t0109g0229 a0001c0001t0116g0114 a0001c0001t0122g0005 a0001c0008t0044g0132 a0001c0008t0044g0210 a0001c0009t0124g0078 a0001c0011t0068g0225 a0002c0002t0005g0066 a0002c0002t0005g0123 a0002c0002t0005g0181 a0002c0002t0025g0247 a0002c0002t0095g0325 a0002c0002t0138g0106 a0005c0005t0012g0304 a0005c0005t0075g0011 a0008c0015t0063g0034 a0011c0024t0128g0194	29	328	0.0884	8	c.615 others(23): Show c.615-247_615-246insGGGATGGA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119137587	G G	GGAGAGAG others(1): Show GGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG03209.hp2 HG01168.hp2 HG01169.hp2 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0003 a0001c0008 a0003c0003	a0001c0008t0044 a0003c0003t0045 a0001c0008t0044 a0003c0003t0045	a0001c0008t0044g0132 a0001c0008t0044g0210 a0003c0003t0045g0092 a0001c0008t0044g0132 a0001c0008t0044g0210 a0003c0003t0045g0092	3	328	0.0092	8	c.771 others(25): Show c.771+6793_771+6800dupAGAGAGAG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119163276	A A	ATGTGTGT others(1): Show ATGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG02559.hp2 HG03654.hp2 others(1): Show HG01515.hp2 HG02559.hp2 HG03654.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0037 a0002c0002t0041 a0002c0002t0005 a0002c0002t0037 a0002c0002t0041	a0002c0002t0005g0181 a0002c0002t0037g0052 a0002c0002t0037g0302 others(1): Show a0002c0002t0005g0181 a0002c0002t0037g0052 a0002c0002t0037g0302 a0002c0002t0041g0283	4	328	0.0122	8	c.64 others(19): Show c.6478_*6479insTGTGTGTG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding		226		chr12	TogoVar
SRRM4_chr12_118976541_119168051	119163280	A A	ATATGTGT others(1): Show ATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18612.hp1 NA18612.hp2 HG02622.hp2 NA18612.hp1 NA18612.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0024 a0001c0001 a0011c0024	a0001c0001t0014 a0001c0001t0050 a0011c0024t0128 a0001c0001t0014 a0001c0001t0050 a0011c0024t0128	a0001c0001t0014g0152 a0001c0001t0050g0003 a0011c0024t0128g0194 a0001c0001t0014g0152 a0001c0001t0050g0003 a0011c0024t0128g0194	3	328	0.0092	8	c.64 others(19): Show c.6482_*6483insTATGTGTG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding		230		chr12	TogoVar

Search by Variant

Search

Search Results