Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA19067.hp1 HG00408.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	19	c.-42 others(30): Show c.-4275_-4274insAAAAAAAAAATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135323	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	310	0.0032	19	c.27 others(30): Show c.2794_*2795insTTCTTTCTTTCTTTCTTTC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2704		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01167.hp1 HG01168.hp2 others(4): Show HG00323.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01934.hp1 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	7	23	0.3043	19	c.32 others(30): Show c.3270_*3271insAAAAAAAAAAAAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18992.hp1 HG06807.hp2 NA18992.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0051 a0003c0003t0001g0045 a0002c0002t0001g0051 a0003c0003t0001g0045	2	55	0.0364	19	c.107 others(42): Show c.1070+152741_1070+152759dupAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118062366	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0002 a0025c0031t0002	a0025c0031t0002g0007 a0025c0031t0002g0007	1	89	0.0112	19	c.254 others(38): Show c.2540+4360_2540+4378dupTTTTTTTTTTTTTTTTTTT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	18/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118069344	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04184.hp1 HG04204.hp2 others(2): Show HG00423.hp1 HG04184.hp1 HG04204.hp2 NA18973.hp1 NA20805.hp1	a0003 a0004 a0010 others(1): Show a0003 a0004 a0010 a0026	a0003c0003 a0004c0005 a0010c0012 others(1): Show a0003c0003 a0004c0005 a0010c0012 a0026c0040	a0003c0003t0001 a0004c0005t0001 a0010c0012t0001 others(1): Show a0003c0003t0001 a0004c0005t0001 a0010c0012t0001 a0026c0040t0001	a0003c0003t0001g0119 a0003c0003t0001g0129 a0004c0005t0001g0243 others(2): Show a0003c0003t0001g0119 a0003c0003t0001g0129 a0004c0005t0001g0243 a0010c0012t0001g0248 a0026c0040t0001g0123	5	108	0.0463	19	c.238 others(38): Show c.2386-2446_2386-2445insTTTTTTTTTTTTTTTTTTT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	17/48			chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02683.hp1 HG03516.hp1 others(1): Show HG02080.hp2 HG02683.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	118	0.0339	19	c.-58 others(28): Show c.-580_-579insAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615450	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	318	0.0031	19	c.-55 others(28): Show c.-554_-553insAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		378		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	136	0.0074	19	c.-18 others(30): Show c.-1805_-1804insATATATATATATTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	136	0.0074	19	c.-18 others(30): Show c.-1805_-1804insATATATATATATATATTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG8_chr9_35804795_35817262	35814490	C C	CTGACCTC others(12): Show CTGACCTCCGAGCCGCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	19	c.-23 others(30): Show c.-2362_-2344dupAGAAGCGGCTCGGAGGTCA	SPAG8	ENSG00000137098.14	transcript	ENST00000396638.7	protein_coding		2229		chr9	TogoVar
SPAG9_chr17_50957174_51125868	51027490	C C	CAACAGTA others(12): Show CAACAGTACACTCATAAGAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18994.hp1 NA19011.hp1 others(1): Show NA18944.hp1 NA18994.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0043 a0001c0001t0003g0047 others(1): Show a0001c0001t0003g0036 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0049	4	290	0.0138	19	c.783 others(36): Show c.783+4172_783+4190dupATCTTATGAGTGTACTGTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	6/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51104932	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp1 HG02970.hp2 others(2): Show HG01168.hp2 HG02055.hp1 HG02970.hp2 HG03516.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0005 a0002c0004t0005 a0002c0004t0015 a0002c0003t0005 a0002c0004t0005 a0002c0004t0015	a0002c0003t0005g0094 a0002c0004t0005g0001 a0002c0004t0005g0006 others(2): Show a0002c0003t0005g0094 a0002c0004t0005g0001 a0002c0004t0005g0006 a0002c0004t0005g0010 a0002c0004t0015g0008	5	203	0.0246	19	c.303 others(38): Show c.303+15421_303+15422insTTTTTTTTTTTTTTTTTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPANXB1_chrX_140997594_141008706	141000925	A A	AAGAGAAA others(12): Show AAGAGAAAAGTAGCTCAGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0010 a0004c0003t0003g0010	1	299	0.0033	19	c.-17 others(30): Show c.-1769_-1768insAGAGAAAAGTAGCTCAGTT	SPANXB1	ENSG00000227234.2	transcript	ENST00000449283.2	protein_coding		1668		chrX	TogoVar
SPAST_chr2_32058556_32162637	32066998	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	340	0.0029	19	c.415 others(36): Show c.415+2761_415+2762insAAAAAAAACCAAAAAAAAA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083774	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18972.hp2 NA18963.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0223 a0001c0001t0001g0150 a0001c0001t0001g0223	2	196	0.0102	19	c.416 others(36): Show c.416-3717_416-3716insTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18984.hp2 NA19000.hp1 HG02572.hp1 NA18984.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0170 a0001c0001t0001g0340 a0001c0001t0001g0129 a0001c0001t0001g0170 a0001c0001t0001g0340	3	102	0.0294	19	c.416 others(36): Show c.416-3701_416-3700insTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190260	C C	CATTATAT others(12): Show CATTATATAACATATGGTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0102 a0002c0008t0102	a0002c0008t0102g0270 a0002c0008t0102g0270	1	23	0.0435	19	c.-11 others(40): Show c.-112+29330_-112+29331insTATATAACATATGGTATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190260	C C	CATTATAT others(12): Show CATTATATACCATATGGTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01255.hp1 others(11): Show HG00558.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp2 HG02486.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18992.hp2 NA19001.hp1 NA19081.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0046 a0003c0012 a0008c0023	a0001c0001t0002 a0001c0001t0023 a0001c0002t0026 others(10): Show a0001c0001t0002 a0001c0001t0023 a0001c0002t0026 a0001c0002t0032 a0001c0002t0042 a0001c0002t0094 a0001c0002t0123 a0001c0003t0028 a0001c0003t0108 a0001c0004t0009 a0001c0046t0006 a0003c0012t0030 a0008c0023t0006	a0001c0001t0002g0162 a0001c0001t0023g0228 a0001c0002t0026g0206 others(11): Show a0001c0001t0002g0162 a0001c0001t0023g0228 a0001c0002t0026g0206 a0001c0002t0032g0332 a0001c0002t0042g0081 a0001c0002t0094g0112 a0001c0002t0123g0234 a0001c0003t0028g0260 a0001c0003t0108g0215 a0001c0004t0009g0245 a0001c0046t0006g0005 a0003c0012t0030g0220 a0003c0012t0030g0242 a0008c0023t0006g0007	14	36	0.3889	19	c.-11 others(40): Show c.-112+29330_-112+29331insTATATACCATATGGTATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA16_chr3_172884357_173146235	173069112	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02109.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0169 a0002c0005t0001g0074 a0001c0001t0001g0169 a0002c0005t0001g0074	2	84	0.0238	19	c.613 others(38): Show c.613-20019_613-20018insTTTTTTTTTTTTTTTTTTT	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217770978	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG02109.hp2 others(5): Show HG01071.hp1 HG01071.hp2 HG02109.hp2 HG02622.hp1 HG02895.hp1 HG03195.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0056 a0001c0004t0004 a0001c0004t0008 a0001c0011t0037	a0001c0001t0001g0018 a0001c0001t0001g0162 a0001c0001t0002g0156 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0162 a0001c0001t0002g0156 a0001c0001t0004g0143 a0001c0001t0056g0075 a0001c0004t0004g0248 a0001c0004t0008g0241 a0001c0011t0037g0249	8	32	0.2500	19	c.520 others(36): Show c.520-3344_520-3326dupTTTTTTTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG03017.hp2 others(3): Show HG00140.hp2 HG00438.hp2 HG03017.hp2 HG03486.hp2 HG03704.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0107 a0001c0001t0001g0136 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0107 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0157	6	121	0.0496	19	c.329 others(36): Show c.329+3609_329+3627dupTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42184473	G G	GTGTGTAT others(12): Show GTGTGTATTTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0023 a0006c0008t0003g0023	1	179	0.0056	19	c.190 others(34): Show c.190-591_190-590insATTTTTATTTTATTTGTGT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88132789	C C	CCTCCACC others(12): Show CCTCCACCACGCCACACCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(237): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0007 others(19): Show a0001 a0002 a0007 a0010 a0012 a0014 a0015 a0016 a0018 a0020 a0021 a0023 a0025 a0027 a0029 a0031 a0033 a0034 a0035 a0037 a0038 a0041	a0001c0002 a0001c0003 a0001c0009 others(29): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0019 a0001c0027 a0001c0034 a0001c0042 a0002c0001 a0002c0020 a0007c0012 a0007c0031 a0010c0014 a0012c0015 a0014c0021 a0015c0026 a0015c0035 a0016c0023 a0018c0028 a0020c0022 a0021c0024 a0023c0052 a0025c0039 a0027c0049 a0029c0055 a0031c0050 a0033c0036 a0034c0057 a0035c0043 a0037c0037 a0038c0041 a0041c0038	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(34): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0019t0001 a0001c0027t0001 a0001c0034t0001 a0001c0042t0001 a0002c0001t0001 a0002c0001t0005 a0002c0020t0001 a0007c0012t0001 a0007c0031t0001 a0010c0014t0001 a0012c0015t0001 a0014c0021t0001 a0015c0026t0001 a0015c0035t0001 a0016c0023t0001 a0018c0028t0001 a0020c0022t0003 a0021c0024t0001 a0023c0052t0001 a0025c0039t0001 a0027c0049t0003 a0029c0055t0001 a0031c0050t0001 a0033c0036t0001 a0034c0057t0001 a0035c0043t0001 a0037c0037t0001 a0038c0041t0001 a0041c0038t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0024 others(71): Show a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0004g0079 a0001c0003t0001g0002 a0001c0003t0001g0020 a0001c0003t0001g0027 a0001c0003t0001g0037 a0001c0003t0001g0064 a0001c0003t0001g0071 a0001c0003t0003g0068 a0001c0003t0004g0069 a0001c0009t0001g0013 a0001c0009t0003g0066 a0001c0010t0001g0012 a0001c0019t0001g0028 a0001c0027t0001g0047 a0001c0034t0001g0065 a0001c0042t0001g0097 a0002c0001t0001g0007 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0033 a0002c0001t0001g0055 a0002c0001t0001g0101 a0002c0001t0001g0104 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0114 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0127 a0002c0001t0005g0126 a0002c0020t0001g0054 a0002c0020t0001g0112 a0007c0012t0001g0014 a0007c0031t0001g0053 a0010c0014t0001g0019 a0010c0014t0001g0059 a0012c0015t0001g0016 a0014c0021t0001g0034 a0015c0026t0001g0050 a0015c0035t0001g0067 a0016c0023t0001g0039 a0018c0028t0001g0098 a0018c0028t0001g0099 a0020c0022t0003g0035 a0021c0024t0001g0040 a0023c0052t0001g0125 a0025c0039t0001g0078 a0027c0049t0003g0102 a0029c0055t0001g0115 a0031c0050t0001g0113 a0033c0036t0001g0062 a0034c0057t0001g0131 a0035c0043t0001g0077 a0037c0037t0001g0070 a0038c0041t0001g0080 a0041c0038t0001g0096	240	444	0.5405	19	c.327 others(32): Show c.327-98_327-80dupAGGGTGTGGCGTGGTGGAG	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	3/3			chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG03471.hp1 others(5): Show HG02965.hp1 HG03225.hp1 HG03471.hp1 NA18952.hp1 NA18970.hp2 NA19062.hp2 NA19068.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0059	8	44	0.1818	19	c.293 others(32): Show c.293+47_293+65dupTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA45_chr1_212825141_212852649	212826759	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02809.hp1 NA18950.hp1 others(5): Show HG01516.hp2 HG02809.hp1 NA18950.hp1 NA18961.hp2 NA18969.hp2 NA19000.hp2 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007	8	127	0.0630	19	c.34 others(30): Show c.3482_*3483insTTTTTTTTTTTTTTTTTTT	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding		3381		chr1	TogoVar
SPATA6L_chr9_4593316_4671480	4648714	T T	TAAATAAA others(12): Show TAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02273.hp1 HG02300.hp1 others(23): Show HG01361.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18981.hp2 NA18993.hp2 NA19000.hp1 NA19005.hp2 NA19063.hp2 NA19083.hp2 NA19088.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0036 a0001c0001t0038 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 others(23): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0008 a0001c0001t0002g0094 a0001c0001t0002g0154 a0001c0001t0010g0099 a0001c0001t0010g0169 a0001c0001t0013g0128 a0001c0001t0014g0168 a0001c0001t0019g0233 a0001c0001t0036g0194 a0001c0001t0038g0149 a0002c0002t0003g0260 a0002c0002t0003g0264 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0004g0262 a0002c0002t0004g0263 a0002c0002t0009g0373 a0002c0002t0009g0389	26	153	0.1699	19	c.226 others(36): Show c.226+7326_226+7327insTTTATTTATTTATTTATTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	135	0.0074	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAAAAAAAATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03942.hp2 HG01123.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0151 a0001c0001t0003g0049 a0001c0001t0002g0151 a0001c0001t0003g0049	2	136	0.0147	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAAAAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0248 a0001c0001t0011g0248	1	135	0.0074	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAAAATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02896.hp1 HG02896.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0017 a0003c0006t0032 a0001c0001t0017 a0003c0006t0032	a0001c0001t0017g0143 a0003c0006t0032g0012 a0001c0001t0017g0143 a0003c0006t0032g0012	2	136	0.0147	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18954.hp1 NA18954.hp2 HG02071.hp1 NA18954.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0025 a0001c0001t0004 a0001c0001t0007 a0001c0001t0025	a0001c0001t0004g0045 a0001c0001t0007g0229 a0001c0001t0025g0239 a0001c0001t0004g0045 a0001c0001t0007g0229 a0001c0001t0025g0239	3	137	0.0219	19	c.39+ others(34): Show c.39+6751_39+6752insAAATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	ATATAAAT others(12): Show ATATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0019 a0002c0004t0063 a0002c0004t0019 a0002c0004t0063	a0002c0004t0019g0285 a0002c0004t0063g0102 a0002c0004t0019g0285 a0002c0004t0063g0102	2	136	0.0147	19	c.39+ others(34): Show c.39+6750_39+6751insTATAAATATATATATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12			chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0132 a0002c0004t0012g0132	1	99	0.0101	19	c.128 others(35): Show c.1282-116_1282-98dupAAAAAAAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49406379	A A	AGCTCAAG others(12): Show AGCTCAAGTGATCCTCCCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	156	0.0064	19	c.-24 others(40): Show c.-244+35090_-244+35108dupGCTCAAGTGATCCTCCCAC	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC24_chr19_11140493_11160782	11143635	C C	CAGGTCTT others(12): Show CAGGTCTTCAGGTCTTTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0151 a0001c0001t0079g0151	1	436	0.0023	19	c.35 others(30): Show c.3529_*3547dupCCCAAAGACCTGAAGACCT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding		1857		chr19	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0182 a0001c0001t0185 a0001c0001t0182 a0001c0001t0185	a0001c0001t0182g0160 a0001c0001t0185g0158 a0001c0001t0182g0160 a0001c0001t0185g0158	2	77	0.0260	19	c.71 others(28): Show c.717_*718insTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	34	0.0294	19	c.114 others(36): Show c.114+6452_114+6453insTATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYC_chr11_65165233_65178374	65166385	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	437	0.0023	19	c.-39 others(30): Show c.-3908_-3907insTTTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3847		chr11	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	105	0.0095	19	c.-39 others(30): Show c.-3902_-3901insTTTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(12): Show CTTTTTTTCTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0182 a0001c0005t0001g0182	1	85	0.0118	19	c.130 others(34): Show c.130+368_130+369insAAAAAAAAGAAGAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(12): Show CTTTTTTTTCTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG01943.hp2 others(16): Show HG00438.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02300.hp1 HG03834.hp1 NA18747.hp2 NA18963.hp1 NA18971.hp1 NA18986.hp2 NA18992.hp1 NA19007.hp1 NA19012.hp2 NA19068.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0002t0021 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0021 a0001c0005t0001 a0002c0004t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0049 others(16): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0021g0061 a0001c0005t0001g0101 a0002c0004t0001g0103	19	103	0.1845	19	c.130 others(34): Show c.130+368_130+369insAAAAAAAGAAGAAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02735.hp2 HG03195.hp1 HG01978.hp2 HG02735.hp2 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0003 a0002c0003t0002 a0003c0006t0005 a0001c0001t0003 a0002c0003t0002 a0003c0006t0005	a0001c0001t0003g0174 a0002c0003t0002g0155 a0003c0006t0005g0129 a0001c0001t0003g0174 a0002c0003t0002g0155 a0003c0006t0005g0129	3	197	0.0152	19	c.-63 others(40): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77030080	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01496.hp1 others(5): Show HG01106.hp1 HG01433.hp1 HG01496.hp1 HG01952.hp2 HG02293.hp2 NA18952.hp1 NA18955.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0007 a0002c0002t0002g0068 a0002c0002t0004g0046 a0002c0002t0002g0007 a0002c0002t0002g0068 a0002c0002t0004g0046	8	66	0.1212	19	c.130 others(34): Show c.130+342_130+360dupAAAAAAAAAAAAAAAAAAA	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	2/7			chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0017 a0003c0003t0002g0017	1	33	0.0303	19	c.-38 others(30): Show c.-3878_-3877insAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0122 a0003c0003t0003g0122	1	5	0.2000	19	c.-36 others(30): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73027468	C C	CTTTTTTT others(12): Show CTTTTTTTTCTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02523.hp2 HG00544.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0030 a0001c0001t0002g0035	2	102	0.0196	19	c.130 others(34): Show c.130+368_130+369insAAAAAAAGAAGAAAAAAAA	SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	2/7			chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24402121	C C	CCCCTTCC others(12): Show CCCCTTCCTTCCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	324	0.0031	19	c.308 others(38): Show c.3088-9463_3088-9445dupTTCCTTCCCCTTCCTTCCC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTAT others(12): Show ATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG06807.hp1 others(1): Show HG02895.hp1 HG02922.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0032 a0001c0001t0081 others(1): Show a0001c0001t0031 a0001c0001t0032 a0001c0001t0081 a0001c0001t0101	a0001c0001t0031g0181 a0001c0001t0032g0180 a0001c0001t0081g0169 others(1): Show a0001c0001t0031g0181 a0001c0001t0032g0180 a0001c0001t0081g0169 a0001c0001t0101g0179	4	46	0.0870	19	c.284 others(36): Show c.284-9829_284-9828insATTATTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(12): Show ATTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02809.hp2 HG02280.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0089 a0001c0001t0097 a0001c0001t0026 a0001c0001t0089 a0001c0001t0097	a0001c0001t0026g0132 a0001c0001t0089g0130 a0001c0001t0097g0170 a0001c0001t0026g0132 a0001c0001t0089g0130 a0001c0001t0097g0170	3	45	0.0667	19	c.284 others(36): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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