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
SHCBP1L_chr1_182894865_182958166	182918775	AATAGTGT others(23): Show AATAGTGTGGTACTGGCATAAAGATAGGCAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18948.hp1 NA18962.hp1 others(9): Show HG02129.hp2 NA18948.hp1 NA18962.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0158 a0004c0004t0001g0130 a0004c0004t0001g0131 others(9): Show a0001c0001t0001g0158 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0140 a0004c0004t0001g0143 a0004c0004t0001g0148 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0185 a0004c0004t0001g0227	12	300	0.0400	-30	c.118 others(51): Show c.1182+10842_1182+10871delATGCCTATCTTTATGCCAGTACCA CACTAT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01168.hp1 HG01346.hp2 others(28): Show HG00544.hp2 HG01168.hp1 HG01346.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03540.hp2 HG03927.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18962.hp1 NA18986.hp2 NA18999.hp2 NA19006.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0009	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004 a0005c0005 a0006c0007 a0009c0013	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0006c0007t0001 a0009c0013t0001	a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0107 others(28): Show a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0226 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0003t0001g0109 a0002c0002t0001g0040 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0148 a0004c0004t0001g0163 a0004c0004t0001g0185 a0005c0005t0001g0043 a0006c0007t0001g0295 a0006c0007t0001g0298 a0009c0013t0001g0287	31	39	0.7949	-30	c.118 others(49): Show c.1182+2567_1182+2596delTATATATATATATATATATATATATA TATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952177	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	298	0.0034	-30	c.405 others(45): Show c.405+522_405+551delATATATATATATATATTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952179	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0100 a0001c0001t0001g0104	2	282	0.0071	-30	c.405 others(45): Show c.405+520_405+549delATATATATATATATATATTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHFL_chr19_10081317_10098243	10093975	TAAGAGTT others(23): Show TAAGAGTTCTGCCTCTCCCACTTTTCTACCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	442	0.0023	-30	c.16 others(41): Show c.1674_*1703delAAGAGTTCTGCCTCTCCCACTTTTCTACCA	SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding		733		chr19	TogoVar
SHISA6_chr17_11236213_11569063	11388790	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0102 a0001c0004t0016g0102	1	26	0.0385	-30	c.895 others(47): Show c.895+9303_895+9332delATATATATATATATATATATATATATAT AT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11526880	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0074 a0001c0006t0044g0074	1	6	0.1667	-30	c.896 others(49): Show c.896-24989_896-24960delATATATATATATATATATATATATAT ATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12943310	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG03453.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012	a0001c0001t0006g0080 a0001c0001t0008g0077 a0001c0001t0012g0107 a0001c0001t0006g0080 a0001c0001t0008g0077 a0001c0001t0012g0107	3	142	0.0211	-30	c.691 others(49): Show c.691+26497_691+26526delTGTGTGTGTGTGTGTGTGTGAGAGAG AGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03017.hp1 HG03491.hp2 HG01346.hp1 HG03017.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0073 a0001c0001t0091 a0001c0001t0002 a0001c0001t0073 a0001c0001t0091	a0001c0001t0002g0207 a0001c0001t0073g0109 a0001c0001t0091g0065 a0001c0001t0002g0207 a0001c0001t0073g0109 a0001c0001t0091g0065	3	189	0.0159	-30	c.691 others(49): Show c.691+26499_691+26528delTGTGTGTGTGTGTGTGTGAGAGAGAG AGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943324	TGTGTGTG others(23): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	211	0.0047	-30	c.691 others(49): Show c.691+26511_691+26540delTGTGTGAGAGAGAGAGAGAGAGAGAG AGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019937	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCCCTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	212	0.0047	-30	c.691 others(51): Show c.691+103124_691+103153delCTTTCTTTCTTTCTTTCTTTCCCT CCTTCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181265	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG03453.hp1 others(1): Show HG02055.hp1 HG02630.hp2 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0063 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0063 a0001c0001t0076	a0001c0001t0004g0079 a0001c0001t0006g0080 a0001c0001t0063g0138 others(1): Show a0001c0001t0004g0079 a0001c0001t0006g0080 a0001c0001t0063g0138 a0001c0001t0076g0108	4	209	0.0191	-30	c.692 others(49): Show c.692-22127_692-22098delTTATATATATATATATATATATATAT ATAT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181267	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	142	0.0070	-30	c.692 others(49): Show c.692-22110_692-22081delTATATATATATATATATATATATATA TATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181284	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0074 a0001c0001t0049g0074	1	134	0.0075	-30	c.692 others(49): Show c.692-22108_692-22079delTATATATATATATATATATATATATA TACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHOX_chrX_625791_656584	636481	AAAATATA others(23): Show AAAATATACATATATAAACATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03195.hp2 NA19011.hp1 HG00735.hp1 HG03195.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0118 a0001c0001t0160 a0001c0001t0098 a0001c0001t0118 a0001c0001t0160	a0001c0001t0098g0161 a0001c0001t0118g0151 a0001c0001t0160g0114 a0001c0001t0098g0161 a0001c0001t0118g0151 a0001c0001t0160g0114	3	218	0.0138	-30	c.486 others(47): Show c.486+1659_486+1688delTATACATATATAAACATATATATACATA AA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	639370	GCTTCCGA others(23): Show GCTTCCGAGGAGGCCGAGAAGGGCAAAGACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02897.hp2 HG02970.hp1 others(5): Show HG01891.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0001t0149 a0001c0001t0163 others(5): Show a0001c0001t0025 a0001c0001t0149 a0001c0001t0163 a0001c0001t0167 a0001c0001t0172 a0001c0001t0174 a0001c0002t0169 a0001c0002t0170	a0001c0001t0025g0158 a0001c0001t0149g0016 a0001c0001t0163g0083 others(5): Show a0001c0001t0025g0158 a0001c0001t0149g0016 a0001c0001t0163g0083 a0001c0001t0167g0123 a0001c0001t0172g0201 a0001c0001t0174g0128 a0001c0002t0169g0124 a0001c0002t0170g0014	8	218	0.0367	-30	c.487 others(47): Show c.487-1420_487-1391delCTTCCGAGGAGGCCGAGAAGGGCAAAGA CA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	655598	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0163 a0001c0001t0163	a0001c0001t0163g0083 a0001c0001t0163g0083	1	207	0.0048	-30	c.10 others(43): Show c.10963_*10992delTCTCTCTCTCTCTCTCTATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4015		chrX	TogoVar
SHOX_chrX_625791_656584	655600	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA19030.hp2 HG02257.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0057 a0001c0001t0027 a0001c0001t0057	a0001c0001t0027g0071 a0001c0001t0057g0006 a0001c0001t0027g0071 a0001c0001t0057g0006	2	206	0.0097	-30	c.10 others(43): Show c.10965_*10994delTCTCTCTCTCTCTCTATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4017		chrX	TogoVar
SHOX_chrX_625791_656584	655604	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0093 a0001c0001t0031g0093	1	198	0.0051	-30	c.10 others(43): Show c.10969_*10998delTCTCTCTCTCTATATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4021		chrX	TogoVar
SHQ1_chr3_72744277_72853445	72852092	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	215	0.0047	-30	c.-37 others(41): Show c.-3782_-3753delTATATATATATATATAGAGAGAGAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3648		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852104	CTCTATAT others(23): Show CTCTATATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0210 a0003c0003t0001g0210	1	199	0.0050	-30	c.-37 others(41): Show c.-3794_-3765delTATATATATATATATATATATATATATAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3660		chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9912222	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(99): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03225.hp1 HG03471.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0007 a0011 a0012 a0014 a0015 a0020 a0022 a0023 a0034 a0037 a0039 a0042	a0001c0001 a0001c0003 a0001c0007 others(25): Show a0001c0001 a0001c0003 a0001c0007 a0001c0048 a0001c0076 a0002c0002 a0002c0006 a0002c0017 a0002c0045 a0002c0047 a0003c0004 a0003c0005 a0003c0068 a0005c0022 a0005c0023 a0005c0058 a0007c0015 a0011c0071 a0012c0021 a0014c0069 a0015c0067 a0020c0060 a0022c0064 a0023c0059 a0034c0043 a0037c0044 a0039c0066 a0042c0046	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(28): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0003t0001 a0001c0007t0001 a0001c0048t0001 a0001c0076t0001 a0002c0002t0002 a0002c0006t0002 a0002c0017t0002 a0002c0045t0002 a0002c0047t0002 a0003c0004t0003 a0003c0005t0003 a0003c0005t0020 a0003c0068t0009 a0005c0022t0002 a0005c0023t0003 a0005c0058t0002 a0007c0015t0003 a0011c0071t0003 a0012c0021t0001 a0014c0069t0001 a0015c0067t0001 a0020c0060t0002 a0022c0064t0003 a0023c0059t0001 a0034c0043t0001 a0037c0044t0002 a0039c0066t0019 a0042c0046t0003	a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0039 others(99): Show a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0012g0115 a0001c0001t0016g0228 a0001c0003t0001g0003 a0001c0003t0001g0050 a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0097 a0001c0003t0001g0104 a0001c0003t0001g0108 a0001c0003t0001g0125 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0159 a0001c0003t0001g0171 a0001c0003t0001g0186 a0001c0003t0001g0197 a0001c0007t0001g0002 a0001c0007t0001g0059 a0001c0048t0001g0170 a0001c0076t0001g0083 a0002c0002t0002g0041 a0002c0002t0002g0052 a0002c0002t0002g0063 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0127 a0002c0002t0002g0144 a0002c0002t0002g0234 a0002c0006t0002g0014 a0002c0006t0002g0043 a0002c0006t0002g0051 a0002c0006t0002g0090 a0002c0006t0002g0120 a0002c0006t0002g0124 a0002c0006t0002g0188 a0002c0017t0002g0161 a0002c0045t0002g0073 a0002c0047t0002g0156 a0003c0004t0003g0054 a0003c0004t0003g0060 a0003c0004t0003g0072 a0003c0004t0003g0077 a0003c0004t0003g0079 a0003c0004t0003g0126 a0003c0004t0003g0162 a0003c0004t0003g0166 a0003c0004t0003g0180 a0003c0005t0003g0075 a0003c0005t0003g0076 a0003c0005t0003g0082 a0003c0005t0003g0092 a0003c0005t0003g0152 a0003c0005t0003g0160 a0003c0005t0003g0168 a0003c0005t0003g0169 a0003c0005t0003g0172 a0003c0005t0003g0173 a0003c0005t0020g0099 a0003c0068t0009g0042 a0005c0022t0002g0078 a0005c0022t0002g0081 a0005c0023t0003g0191 a0005c0058t0002g0118 a0007c0015t0003g0189 a0011c0071t0003g0202 a0012c0021t0001g0085 a0012c0021t0001g0086 a0014c0069t0001g0066 a0015c0067t0001g0004 a0020c0060t0002g0244 a0022c0064t0003g0119 a0023c0059t0001g0157 a0034c0043t0001g0095 a0037c0044t0002g0209 a0039c0066t0019g0184 a0042c0046t0003g0187	102	254	0.4016	-30	c.289 others(51): Show c.2891+13934_2891+13963delCACACACACACACACACACACACA CACATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76601179	TGGTTCTC others(23): Show TGGTTCTCAGCTAGAGGCGATTTCCCTCCAG	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0205 a0003c0002t0003g0205	1	216	0.0046	-30	c.323 others(49): Show c.323+45419_323+45448delTTCTCAGCTAGAGGCGATTTCCCTCC AGGG	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76608528	GGCATAGC others(23): Show GGCATAGCATAGCATAGCATAGCATAGCATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(51): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00673.hp1 HG01070.hp1 HG01257.hp1 HG01257.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18950.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0010 a0011 a0016 a0024 a0025 a0029 a0032	a0001c0001 a0002c0003 a0002c0043 others(12): Show a0001c0001 a0002c0003 a0002c0043 a0002c0045 a0003c0002 a0005c0011 a0005c0021 a0007c0006 a0010c0014 a0011c0018 a0016c0031 a0024c0027 a0025c0047 a0029c0042 a0032c0051	a0001c0001t0002 a0001c0001t0022 a0002c0003t0001 others(19): Show a0001c0001t0002 a0001c0001t0022 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0003t0010 a0002c0003t0029 a0002c0003t0030 a0002c0043t0001 a0002c0045t0001 a0003c0002t0001 a0005c0011t0002 a0005c0021t0009 a0007c0006t0001 a0010c0014t0001 a0011c0018t0001 a0016c0031t0001 a0024c0027t0001 a0025c0047t0002 a0029c0042t0001 a0032c0051t0028	a0001c0001t0002g0042 a0001c0001t0002g0105 a0001c0001t0002g0115 others(51): Show a0001c0001t0002g0042 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0022g0106 a0002c0003t0001g0002 a0002c0003t0001g0006 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0019 a0002c0003t0001g0028 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0123 a0002c0003t0001g0145 a0002c0003t0001g0149 a0002c0003t0001g0162 a0002c0003t0001g0168 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0194 a0002c0003t0002g0016 a0002c0003t0003g0191 a0002c0003t0003g0201 a0002c0003t0003g0204 a0002c0003t0003g0213 a0002c0003t0003g0214 a0002c0003t0007g0148 a0002c0003t0010g0077 a0002c0003t0010g0080 a0002c0003t0029g0156 a0002c0003t0030g0169 a0002c0043t0001g0012 a0002c0045t0001g0152 a0003c0002t0001g0036 a0003c0002t0001g0041 a0003c0002t0001g0060 a0003c0002t0001g0063 a0003c0002t0001g0064 a0003c0002t0001g0082 a0003c0002t0001g0107 a0003c0002t0001g0118 a0003c0002t0001g0171 a0005c0011t0002g0045 a0005c0021t0009g0132 a0007c0006t0001g0008 a0010c0014t0001g0039 a0010c0014t0001g0089 a0011c0018t0001g0121 a0016c0031t0001g0081 a0024c0027t0001g0126 a0025c0047t0002g0076 a0029c0042t0001g0133 a0032c0051t0028g0004	54	142	0.3803	-30	c.323 others(49): Show c.323+52820_323+52849delAGCATAGCATAGCATAGCATAGCATA GCAT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76608658	TAGCATAG others(23): Show TAGCATAGCACAGCATAGCACAGCACAGCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00673.hp2 others(28): Show HG00099.hp2 HG00140.hp1 HG00673.hp2 HG01255.hp1 HG01934.hp1 HG01993.hp1 HG02074.hp1 HG02083.hp1 HG02630.hp1 HG03453.hp2 HG03669.hp1 NA18747.hp1 NA18946.hp2 NA18968.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18989.hp2 NA18993.hp2 NA19003.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0003 a0003c0002 others(2): Show a0001c0001 a0002c0003 a0003c0002 a0004c0004 a0007c0006	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(6): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0033 a0002c0003t0001 a0003c0002t0001 a0003c0002t0003 a0004c0004t0001 a0007c0006t0005	a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0021 others(28): Show a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0008g0203 a0001c0001t0012g0025 a0001c0001t0012g0078 a0001c0001t0033g0079 a0002c0003t0001g0075 a0002c0003t0001g0125 a0002c0003t0001g0128 a0003c0002t0001g0100 a0003c0002t0001g0151 a0003c0002t0003g0206 a0004c0004t0001g0135 a0007c0006t0005g0047	31	205	0.1512	-30	c.323 others(49): Show c.323+52900_323+52929delTAGCACAGCATAGCACAGCACAGCAC AGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76608673	TAGCACAG others(23): Show TAGCACAGCACAGCACAGCACAGCACAGCAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18950.hp2 NA19002.hp2 others(2): Show HG02074.hp2 NA18950.hp2 NA19002.hp2 NA19010.hp2 NA19091.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0002c0003 a0003c0002	a0002c0003t0001 a0003c0002t0001 a0003c0002t0003 a0002c0003t0001 a0003c0002t0001 a0003c0002t0003	a0002c0003t0001g0129 a0002c0003t0001g0172 a0003c0002t0001g0011 others(2): Show a0002c0003t0001g0129 a0002c0003t0001g0172 a0003c0002t0001g0011 a0003c0002t0001g0170 a0003c0002t0003g0212	5	182	0.0275	-30	c.323 others(49): Show c.323+52940_323+52969delCAGCACAGCACAGCACAGCACAGCAC AGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76651401	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp2 HG03540.hp1 HG02615.hp1 HG03139.hp2 HG03540.hp1	a0001 a0015 a0001 a0015	a0001c0019 a0015c0025 a0015c0046 a0001c0019 a0015c0025 a0015c0046	a0001c0019t0001 a0015c0025t0006 a0015c0046t0006 a0001c0019t0001 a0015c0025t0006 a0015c0046t0006	a0001c0019t0001g0030 a0015c0025t0006g0095 a0015c0046t0006g0157 a0001c0019t0001g0030 a0015c0025t0006g0095 a0015c0046t0006g0157	3	6	0.5000	-30	c.324 others(49): Show c.324-58739_324-58710delTATATATATATATATATATATATATA TATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735854	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0007 a0005c0013t0001g0007	1	211	0.0047	-30	c.588 others(47): Show c.588-2905_588-2876delAAAAAAAAAAAAAATATATATATATATA TA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735856	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00639.hp1 HG00642.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0031 a0005c0013t0001 a0005c0013t0031	a0005c0013t0001g0109 a0005c0013t0031g0061 a0005c0013t0001g0109 a0005c0013t0031g0061	2	208	0.0096	-30	c.588 others(47): Show c.588-2903_588-2874delAAAAAAAAAAAATATATATATATATATA TA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50795116	TATATATA others(23): Show TATATATATATGATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0026 a0005c0006t0026	a0005c0006t0026g0017 a0005c0006t0026g0017	1	173	0.0058	-30	c.117 others(49): Show c.117+18756_117+18785delCATATATATATATATATATCATATAT ATAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	401244	GGCCCCGT others(23): Show GGCCCCGTTCACACCCGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	233	0.0043	-30	c.46 others(41): Show c.4622_*4651delGGGTGTGAGCGGGGCGGGTGTGAACGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4471		chr11	TogoVar
SIGIRR_chr11_400716_419999	401470	ACCCGCCC others(23): Show ACCCGCCCCGCTCACCCCCGGCCCCGCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	220	0.0045	-30	c.43 others(41): Show c.4396_*4425delGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4245		chr11	TogoVar
SIGIRR_chr11_400716_419999	401505	GGCCCCGT others(23): Show GGCCCCGTTCACACCCGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0050 a0007c0010t0001g0050	1	239	0.0042	-30	c.43 others(41): Show c.4361_*4390delGGGTGTGAGCGGGGCGGGTGTGAACGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4210		chr11	TogoVar
SIGIRR_chr11_400716_419999	401778	CACCCCCG others(23): Show CACCCCCGACCCCCGGCCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA19043.hp1 HG00621.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0019 a0006c0011t0001g0144 a0001c0001t0001g0019 a0006c0011t0001g0144	2	236	0.0085	-30	c.40 others(41): Show c.4088_*4117delCGGGGGTGAGCGGGGCCGGGGGTCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3937		chr11	TogoVar
SIGIRR_chr11_400716_419999	402135	GCTCCACT others(23): Show GCTCCACTGACCCCGGCCCCGCTCACCCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 NA19030.hp1 HG02258.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0152 a0001c0001t0001g0157	2	194	0.0103	-30	c.37 others(41): Show c.3731_*3760delTCGGGGTGAGCGGGGCCGGGGTCAGTGGAG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3580		chr11	TogoVar
SIK3_chr11_116838402_117103428	116844629	AATATATT others(23): Show AATATATTATATTATATATTATATATATAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18522.hp2 HG02896.hp1 HG02897.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059	3	362	0.0083	-30	c.98 others(40): Show c.984_*1013delATTATATATATAATATATAATATAATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	25/25	1737		chr11	TogoVar
SIK3_chr11_116838402_117103428	116938582	GGAGGAGA others(23): Show GGAGGAGAGGAGAGGGGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01243.hp1 HG01891.hp1 others(4): Show HG00609.hp2 HG01243.hp1 HG01891.hp1 HG02280.hp1 HG02976.hp1 HG03195.hp2 NA18975.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0022 a0001c0001 a0018c0022	a0001c0001t0003 a0018c0022t0003 a0001c0001t0003 a0018c0022t0003	a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0162 others(4): Show a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0018c0022t0003g0148	7	360	0.0194	-30	c.455 others(49): Show c.455-11232_455-11203delTCCTCTCCTCTCCTCCCCTCTCCTCT CCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116965734	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	66	0.0152	-30	c.274 others(47): Show c.274-8700_274-8671delATATATATATATATATATATATATATAT AT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117056536	GATAGATA others(23): Show GATAGATATAGATATAGATATAGATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01074.hp2 others(41): Show HG00323.hp2 HG00609.hp2 HG01074.hp2 HG01243.hp1 HG01261.hp2 HG01891.hp1 HG01934.hp1 HG02040.hp1 HG02080.hp2 HG02129.hp1 HG02280.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG04199.hp1 NA18522.hp2 NA18947.hp2 NA18948.hp2 NA18957.hp2 NA18965.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19080.hp1 NA19087.hp1 NA19088.hp1	a0001 a0011 a0018 a0001 a0011 a0018	a0001c0001 a0011c0015 a0018c0022 a0001c0001 a0011c0015 a0018c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 a0011c0015t0001 a0018c0022t0003	a0001c0001t0001g0070 a0001c0001t0001g0112 a0001c0001t0001g0150 others(41): Show a0001c0001t0001g0070 a0001c0001t0001g0112 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0003g0069 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0281 a0001c0001t0021g0136 a0001c0001t0022g0159 a0011c0015t0001g0129 a0018c0022t0003g0148	44	105	0.4190	-30	c.273 others(49): Show c.273+41577_273+41606delATCTATATCTATATCTATATCTATAT CTAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIM1_chr6_100380009_100469921	100412595	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0251 a0002c0002t0007g0251	1	302	0.0033	-30	c.116 others(49): Show c.1167+8165_1167+8194delTCCTTCTTTCTTTCCTTTCTTTCTTT CTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412607	GAAAGGAA others(23): Show GAAAGGAAAGAAAGAAGGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18957.hp1 NA18991.hp1 others(1): Show NA18950.hp2 NA18957.hp1 NA18991.hp1 NA18991.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0001 a0005c0010t0067 a0002c0002t0001 a0005c0010t0067	a0002c0002t0001g0084 a0002c0002t0001g0122 a0002c0002t0001g0222 others(1): Show a0002c0002t0001g0084 a0002c0002t0001g0122 a0002c0002t0001g0222 a0005c0010t0067g0140	4	316	0.0127	-30	c.116 others(49): Show c.1167+8153_1167+8182delTCTTTCTTTCTTTCCTTCTTTCTTTC CTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18939.hp2 HG01106.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0061 a0001c0001t0003g0068 a0001c0001t0002g0061 a0001c0001t0003g0068	2	41	0.0488	-30	c.176 others(47): Show c.176-4192_176-4163delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11			chr6	TogoVar
SIN3B_chr19_16824398_16885349	16857579	AATGTAAA others(23): Show AATGTAAAATAAAGCACAGATCCAAGAAACC	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	370	0.0027	-30	c.105 others(49): Show c.1058+3320_1058+3349delTGTAAAATAAAGCACAGATCCAAGAA ACCA	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L2_chr1_232392965_232635133	232541247	TTAACATA others(23): Show TTAACATAACATAACATAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0205 a0002c0006t0001g0205	1	64	0.0156	-30	c.-26 others(51): Show c.-269-25669_-269-25640delTGTTATGTTATGTTATGTTATGTT ATGTTA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	38000882	TATATATA others(23): Show TATATATATATGTTATATATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0002 a0007c0008t0008g0002	1	162	0.0062	-30	c.-37 others(51): Show c.-378-28197_-378-28168delTGTTATATATATATATATAACATA TATATA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT5_chr6_13569601_13620158	13611212	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	392	0.0026	-30	c.858 others(45): Show c.858-576_858-547delTATATATATATATATATATATATACACACA	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
SIRT6_chr19_4169109_4187563	4172234	TACAGCCT others(23): Show TACAGCCTGAAACAGACCTGGACAGACAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	408	0.0025	-30	c.23 others(41): Show c.2353_*2382delGTCTGTCTGTCCAGGTCTGTTTCAGGCTGT	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		1874		chr19	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(23): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp1 others(14): Show HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01261.hp2 HG02257.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 NA18522.hp1 NA18959.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0007c0008t0001	a0001c0001t0001g0001 a0002c0002t0001g0014 a0003c0003t0001g0003 others(2): Show a0001c0001t0001g0001 a0002c0002t0001g0014 a0003c0003t0001g0003 a0005c0005t0001g0004 a0007c0008t0001g0013	17	22	0.7727	-30	c.-13 others(41): Show c.-1390_-1361delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SI_chr3_164973898_165083496	165073170	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02965.hp2 others(3): Show HG02486.hp2 HG02572.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0025 a0004c0004 a0001c0001 a0001c0025 a0004c0004	a0001c0001t0001 a0001c0025t0008 a0004c0004t0004 a0001c0001t0001 a0001c0025t0008 a0004c0004t0004	a0001c0001t0001g0018 a0001c0025t0008g0026 a0004c0004t0004g0027 others(3): Show a0001c0001t0001g0018 a0001c0025t0008g0026 a0004c0004t0004g0027 a0004c0004t0004g0099 a0004c0004t0004g0100 a0004c0004t0004g0101	6	20	0.3000	-30	c.255 others(47): Show c.255+1331_255+1360delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	3/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48224058	GGAGGAGG others(23): Show GGAGGAGGAGAAGGAGGAGGAGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	290	0.0034	-30	c.281 others(49): Show c.281-34588_281-34559delTTCCTCCTCCTCCTCCTCCTTCTCCT CCTC	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar

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