Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1327139	TCACTGCA others(29): Show TCACTGCACAGTGCCTCGTCACAGTTTAGTGCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02965.hp1 others(5): Show HG02145.hp1 HG02630.hp1 HG02965.hp1 HG03098.hp1 NA18522.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004	a0001c0001t0025 a0001c0001t0050 a0001c0003t0009 others(5): Show a0001c0001t0025 a0001c0001t0050 a0001c0003t0009 a0001c0003t0040 a0001c0003t0045 a0001c0007t0033 a0002c0002t0053 a0002c0004t0047	a0001c0001t0025g0036 a0001c0001t0050g0077 a0001c0003t0009g0046 others(5): Show a0001c0001t0025g0036 a0001c0001t0050g0077 a0001c0003t0009g0046 a0001c0003t0040g0073 a0001c0003t0045g0057 a0001c0007t0033g0041 a0002c0002t0053g0106 a0002c0004t0047g0063	8	101	0.0792	-36	c.107 others(57): Show c.1077+35853_1077+35888delGGCAGGCACTAAACTGTGACGAGG CACTGTGCAGTG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327485	TGCACAGC others(29): Show TGCACAGCGCCTCCTCACTGCCCAGCGCCTCCCCATG	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0104 a0001c0003t0060g0104	1	74	0.0135	-36	c.107 others(57): Show c.1077+35508_1077+35543delATGGGGAGGCGCTGGGCAGTGAGG AGGCGCTGTGCA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327485	TGCACAGC others(29): Show TGCACAGCGCCTCCTCACTGCCCAGCGCCTCCCCATG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0062 a0001c0001t0052g0062	1	74	0.0135	-36	c.107 others(57): Show c.1077+35507_1077+35542delCATGGGGAGGCGCTGGGCAGTGAG GAGGCGCTGTGC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1529254	CGCACCAT others(29): Show CGCACCATGCCCAACACCAATCCTCCAATCAGTCCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(37): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG01243.hp2 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02258.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02886.hp2 HG03017.hp1 HG03669.hp2 HG04184.hp1 NA18945.hp1 NA18945.hp2 NA18967.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19070.hp1 NA19086.hp1 NA19086.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0010	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0004c0005 a0009c0015 a0010c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0003t0001 a0001c0003t0060 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0027 a0002c0002t0042 a0002c0002t0043 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0004t0005 a0002c0016t0006 a0003c0006t0003 a0003c0006t0067 a0004c0005t0037 a0009c0015t0014 a0010c0012t0007	a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 others(37): Show a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0054g0083 a0001c0001t0055g0089 a0001c0001t0056g0081 a0001c0001t0058g0099 a0001c0003t0001g0070 a0001c0003t0060g0104 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0005g0028 a0002c0002t0006g0011 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0027g0021 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0005g0029 a0002c0016t0006g0010 a0003c0006t0003g0090 a0003c0006t0067g0080 a0004c0005t0037g0064 a0009c0015t0014g0008 a0010c0012t0007g0006	40	104	0.3846	-36	c.101 others(57): Show c.101-150130_101-150095delATGGACTGATTGGAGGATTGGTGT TGGGCATGGTGC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADCY4_chr14_24313359_24340071	24321386	ATGCACTC others(29): Show ATGCACTCCAGCCTGAGCGACGAGAGTGAAACTCTGT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	434	0.0023	-36	c.258 others(53): Show c.2586+644_2586+679delACAGAGTTTCACTCTCGTCGCTCAGGCT GGAGTGCA		ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	20/24						chr14	TogoVar
ADCY5_chr3_123277296_123454090	123400478	TCTCAGCA others(29): Show TCTCAGCACTGTTTATAACACTAACAAACTGGAAATG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	258	0.0039	-36	c.113 others(57): Show c.1134+46898_1134+46933delCATTTCCAGTTTGTTAGTGTTATA AACAGTGCTGAG		ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20						chr3	TogoVar
ADGB_chr6_146593972_146820462	146691441	TAAAAATA others(29): Show TAAAAATATATATATATAAAAATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	185	0.0054	-36	c.148 others(53): Show c.1486+153_1486+188delAAAATATATATATATAAAAATATATATA TATATAAA		ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131046403	GTCCTCCC others(29): Show GTCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0224 a0001c0003t0013g0225 a0001c0003t0013g0224 a0001c0003t0013g0225	2	239	0.0084	-36	c.147 others(57): Show c.1474-30397_1474-30362delTCCTCCCTGGTCAGCGCTCCCTCC CTGGTCAGTGTC		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24						chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131098142	CGCTGTCT others(29): Show CGCTGTCTGGGCCTCACTTCCTTCTCCCGCAGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0017 a0001c0046t0017	a0001c0046t0017g0221 a0001c0046t0017g0221	1	240	0.0042	-36	c.167 others(55): Show c.1672-6677_1672-6642delCTCACTTCCTTCTCCCGCAGTGGCTG CTGTCTGGGC		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	15/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRF3_chr2_26303175_26351789	26319561	CCCTCCCT others(29): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02155.hp1 HG00140.hp1 HG02155.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0037 a0002c0002 a0015c0037	a0002c0002t0001 a0015c0037t0001 a0002c0002t0001 a0015c0037t0001	a0002c0002t0001g0201 a0015c0037t0001g0145 a0002c0002t0001g0201 a0015c0037t0001g0145	2	256	0.0078	-36	c.115 others(53): Show c.115-2035_115-2000delAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGG		ADGRF3	ENSG00000173567.16	transcript	ENST00000651242.2	protein_coding	1/13						chr2	TogoVar
ADGRF3_chr2_26303175_26351789	26319582	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0032 a0032	a0032c0031 a0032c0031	a0032c0031t0002 a0032c0031t0002	a0032c0031t0002g0112 a0032c0031t0002g0112	1	320	0.0031	-36	c.115 others(53): Show c.115-2056_115-2021delAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG		ADGRF3	ENSG00000173567.16	transcript	ENST00000651242.2	protein_coding	1/13						chr2	TogoVar
ADGRF5_chr6_46847522_46926938	46889279	TATATAGT others(29): Show TATATAGTATATATAGTACAGTATATATAGTATAGTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0121 a0003c0003t0003g0121	1	380	0.0026	-36	c.158 others(51): Show c.158-810_158-775delTACTATACTATATATACTGTACTATATATA CTATAT		ADGRF5	ENSG00000069122.19	transcript	ENST00000283296.12	protein_coding	3/20						chr6	TogoVar
ADGRG4_chrX_136295963_136421890	136333248	CTAGGCAT others(29): Show CTAGGCATTACCATTCAGGACATAGGCATGGGCAAGG	C C	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	227	0.0044	-36	c.685 others(53): Show c.685+9857_685+9892delTAGGCATTACCATTCAGGACATAGGCAT GGGCAAGG		ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	5/25						chrX	TogoVar
ADGRG7_chr3_100604601_100700479	100605882	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCTTTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0139 a0003c0003t0001g0139	1	323	0.0031	-36	c.-39 others(47): Show c.-3974_-3939delTCCTTCCTTCCTTCTTTCTCTCTCTCTCTCTCTC TC		ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding					3718		chr3	TogoVar
ADGRV1_chr5_90553797_91169437	90974249	AATATTGT others(29): Show AATATTGTAAAAATGGCCATACTGCCCAAGGTAATTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp2 HG03098.hp1 others(1): Show HG01167.hp2 HG02896.hp2 HG03098.hp1 HG03540.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0071 a0003c0003 a0004c0071	a0003c0003t0001 a0004c0071t0001 a0003c0003t0001 a0004c0071t0001	a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0127 others(1): Show a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0127 a0004c0071t0001g0007	4	156	0.0256	-36	c.179 others(57): Show c.17973+8722_17973+8757delTTGTAAAAATGGCCATACTGCCCA AGGTAATTTATA		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	84/89					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADK_chr10_74146221_74714290	74300275	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01243.hp2 others(13): Show HG00741.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01884.hp2 HG02630.hp1 HG02965.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 NA18941.hp2 NA18951.hp1 NA18957.hp2 NA18964.hp1 NA18975.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0029 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0002g0021 a0001c0001t0002g0074 a0001c0001t0002g0085 a0001c0004t0001g0030	16	191	0.0838	-36	c.195 others(55): Show c.195-14356_195-14321delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74713350	GAAGTGCA others(29): Show GAAGTGCAATAGTGCAATCACGGCTCACTGCAGCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	198	0.0051	-36	c.49 others(47): Show c.4906_*4941delAAGTGCAATAGTGCAATCACGGCTCACTGCAGCC CC		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding					4061		chr10	TogoVar
ADM2_chr22_50476543_50491437	50488751	TGTCCCTC others(29): Show TGTCCCTCCTGTCCCTCCTGTCCCTCCCATCCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(143): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0026 a0001c0001t0034 a0001c0001t0039 a0001c0001t0044 a0001c0001t0052 a0001c0001t0053 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0069 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0083 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0107 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0035 a0002c0002t0036 a0002c0002t0057 a0002c0002t0067 a0002c0002t0080 a0002c0002t0082 a0002c0002t0085	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(49): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0005g0001 a0001c0001t0007g0001 a0001c0001t0008g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0012g0001 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0014g0005 a0001c0001t0014g0008 a0001c0001t0024g0001 a0001c0001t0026g0001 a0001c0001t0034g0001 a0001c0001t0039g0001 a0001c0001t0044g0001 a0001c0001t0052g0001 a0001c0001t0053g0001 a0001c0001t0061g0001 a0001c0001t0062g0001 a0001c0001t0063g0001 a0001c0001t0069g0001 a0001c0001t0073g0001 a0001c0001t0076g0001 a0001c0001t0077g0001 a0001c0001t0078g0001 a0001c0001t0083g0001 a0001c0001t0092g0001 a0001c0001t0094g0001 a0001c0001t0095g0001 a0001c0001t0098g0001 a0001c0001t0101g0001 a0001c0001t0102g0001 a0001c0001t0105g0001 a0001c0001t0107g0001 a0002c0002t0001g0001 a0002c0002t0003g0001 a0002c0002t0004g0001 a0002c0002t0010g0001 a0002c0002t0023g0001 a0002c0002t0024g0001 a0002c0002t0031g0001 a0002c0002t0035g0001 a0002c0002t0036g0001 a0002c0002t0057g0001 a0002c0002t0067g0001 a0002c0002t0080g0001 a0002c0002t0082g0001 a0002c0002t0085g0001	146	444	0.3288	-36	c.58 others(47): Show c.5849_*5884delGTCCCTCCTGTCCCTCCTGTCCCTCCCATCCCTC CC		ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding					2315		chr22	TogoVar
ADNP2_chr18_80104262_80145346	80143181	ATCCTAAA others(29): Show ATCCTAAACTCAGGAGTTTCTTAATTTATGATCCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	386	0.0026	-36	c.43 others(47): Show c.4373_*4408delTCCTAAACTCAGGAGTTTCTTAATTTATGATCCA TG		ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding					2836		chr18	TogoVar
ADORA1_chr1_203122726_203172405	203167154	TGGGGGAG others(29): Show TGGGGGAGCCTGGAGCCCCTGTGTGGGAGGGCGAGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03098.hp2 others(1): Show HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0021 a0001c0001t0007g0159 a0001c0001t0007g0161	4	406	0.0099	-36	c.12 others(47): Show c.1297_*1332delGCCTGGAGCCCCTGTGTGGGAGGGCGAGGCGGGG GA		ADORA1	ENSG00000163485.18	transcript	ENST00000337894.9	protein_coding	4/4				1297	INFO_REALIGN_3_PRIME	chr1	TogoVar
ADORA1_chr1_203122726_203172405	203167197	GCCTGGAG others(29): Show GCCTGGAGCCCCTGTGTGGGAGGGCGAGGCGGGGGAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp1 HG04228.hp1 HG03688.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0027	2	406	0.0049	-36	c.13 others(47): Show c.1314_*1349delGGGAGGGCGAGGCGGGGGATCCTGGAGCCCCTGT GT		ADORA1	ENSG00000163485.18	transcript	ENST00000337894.9	protein_coding	4/4				1314	INFO_REALIGN_3_PRIME	chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113404036	TGAGCCCG others(29): Show TGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp1 HG03239.hp1 NA18983.hp2 HG03209.hp1 HG03239.hp1 NA18983.hp2	a0018 a0019 a0024 a0018 a0019 a0024	a0018c0025 a0019c0045 a0024c0050 a0018c0025 a0019c0045 a0024c0050	a0018c0025t0039 a0019c0045t0001 a0024c0050t0001 a0018c0025t0039 a0019c0045t0001 a0024c0050t0001	a0018c0025t0039g0260 a0019c0045t0001g0151 a0024c0050t0001g0180 a0018c0025t0039g0260 a0019c0045t0001g0151 a0024c0050t0001g0180	3	260	0.0115	-36	c.521 others(45): Show c.5210_5245delGGGAACAGGCCCAGAAAGGGGCTCAGGAACGGGCTC	p.Arg others(15): Show p.Arg1737_Ala1748del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5296/9722	5210/5904	1737/1967			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404116	TTCCTGAG others(29): Show TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0045 a0002c0014t0045	a0002c0014t0045g0157 a0002c0014t0045g0157	1	260	0.0038	-36	c.513 others(45): Show c.5130_5165delGCGGGCTCGGGAACAGGCCCAGAAAGGGGCTCAGGA	p.Arg others(15): Show p.Arg1711_Glu1722del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5216/9722	5130/5904	1710/1967			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404152	CTCCTGAG others(29): Show CTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02129.hp2 NA18950.hp2 NA18966.hp1 others(6): Show HG02129.hp2 NA18950.hp2 NA18966.hp1 NA18970.hp1 NA19000.hp1 NA19010.hp1 NA19057.hp1 NA19068.hp1 NA19091.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0001c0004 a0025c0055 a0001c0001 a0001c0004 a0025c0055	a0001c0001t0004 a0001c0001t0044 a0001c0004t0004 others(1): Show a0001c0001t0004 a0001c0001t0044 a0001c0004t0004 a0025c0055t0004	a0001c0001t0004g0026 a0001c0001t0004g0101 a0001c0001t0044g0117 others(6): Show a0001c0001t0004g0026 a0001c0001t0004g0101 a0001c0001t0044g0117 a0001c0004t0004g0093 a0001c0004t0004g0176 a0001c0004t0004g0178 a0001c0004t0004g0184 a0001c0004t0004g0226 a0025c0055t0004g0261	9	141	0.0638	-36	c.509 others(45): Show c.5094_5129delACGGGCTCGGGAACAGGCCCAGAAAGGGGCTCAGGA	p.Arg others(15): Show p.Arg1699_Glu1710del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5180/9722	5094/5904	1698/1967			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404236	TTTCTGGG others(29): Show TTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp2 HG03704.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0016 a0021c0038t0016	a0021c0038t0016g0034 a0021c0038t0016g0034	1	260	0.0038	-36	c.501 others(45): Show c.5010_5045delGGGGGCTCAGGAACGGGCTCGGGAACAGGCCCAGAA	p.Gly others(15): Show p.Gly1671_Lys1682del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5096/9722	5010/5904	1670/1967			chr13	TogoVar
ADSS1_chr14_104719229_104752310	104719685	ACAGGCCC others(29): Show ACAGGCCCCGTGTGAACACTCACTGTTGAGGGGCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01884.hp1 HG01891.hp2 others(22): Show HG00673.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03704.hp1 HG06807.hp2 NA18522.hp1 NA18967.hp1 NA18970.hp2 NA18985.hp1 NA19000.hp1 NA19065.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0036 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0002g0071 a0001c0001t0003g0078 a0001c0001t0003g0087 a0001c0001t0003g0106 a0001c0001t0009g0166 a0001c0003t0001g0077	25	400	0.0625	-36	c.-45 others(47): Show c.-4585_-4550delCAGGCCCCGTGTGAACACTCACTGTTGAGGGGCC CC		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding					4543		chr14	TogoVar
AFAP1_chr4_7753714_7944861	7840269	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTTCCTGGTTTGTTTTTGGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02809.hp1 others(1): Show HG02451.hp2 HG02622.hp2 HG02809.hp1 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0032 a0001c0004 a0001c0032	a0001c0004t0006 a0001c0004t0007 a0001c0032t0009 a0001c0004t0006 a0001c0004t0007 a0001c0032t0009	a0001c0004t0006g0296 a0001c0004t0006g0299 a0001c0004t0007g0304 others(1): Show a0001c0004t0006g0296 a0001c0004t0006g0299 a0001c0004t0007g0304 a0001c0032t0009g0267	4	309	0.0129	-36	c.547 others(53): Show c.547-1602_547-1567delCCCAAAAACAAACCAGGAACACACACAC ACACACAC		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/17						chr4	TogoVar
AFF1_chr4_86930011_87146039	87022568	ATATATAT others(29): Show ATATATATATATATATCTATCTATATCTATCTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02040.hp1 HG02129.hp2 others(8): Show HG01109.hp1 HG02040.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG03942.hp1 NA18961.hp1 NA18964.hp2 NA18985.hp2 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0004c0012t0004	a0001c0001t0003g0067 a0001c0001t0004g0065 a0001c0001t0004g0209 others(8): Show a0001c0001t0003g0067 a0001c0001t0004g0065 a0001c0001t0004g0209 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0227 a0001c0001t0004g0238 a0001c0001t0009g0219 a0001c0001t0009g0230 a0001c0001t0009g0232 a0004c0012t0004g0123	11	290	0.0379	-36	c.39- others(53): Show c.39-23588_39-23553delATATATCTATCTATATCTATCTGTGTGT ATATATAT		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87022578	ATATATCT others(29): Show ATATATCTATCTATATCTATCTGTGTGTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0011 a0010c0032t0011	a0010c0032t0011g0105 a0010c0032t0011g0105	1	244	0.0041	-36	c.39- others(53): Show c.39-23586_39-23551delATATCTATCTATATCTATCTGTGTGTAT ATATATCT		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148773681	GGAAGGAA others(29): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0157 a0001c0002t0019g0157	1	146	0.0068	-36	c.104 others(57): Show c.1042-36191_1042-36156delGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148795812	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA21309.hp2 HG02630.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0022 a0001c0001t0017 a0001c0002t0022	a0001c0001t0017g0136 a0001c0002t0022g0150 a0001c0001t0017g0136 a0001c0002t0022g0150	2	167	0.0120	-36	c.104 others(57): Show c.1042-14062_1042-14027delAAAAAAAAAAAAAAAAAAAATATA TATATATATATA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148897237	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0120 a0001c0001t0056g0120	1	167	0.0060	-36	c.136 others(55): Show c.1360-6978_1360-6943delATATATATATATATATATATATATAT ATATGTATAT		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	8/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	100037413	TTTATTTA others(29): Show TTTATTTATATATAAATATATATTTATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00609.hp1 others(37): Show HG00099.hp1 HG00438.hp1 HG00609.hp1 HG00639.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp1 NA18906.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0002c0002 a0002c0013 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0020 a0001c0005t0004 a0001c0005t0027 a0001c0009t0021 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0013t0019 a0003c0006t0001 a0003c0006t0003	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0037 others(37): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0003g0100 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0006g0024 a0001c0001t0007g0044 a0001c0001t0009g0018 a0001c0001t0010g0055 a0001c0001t0010g0057 a0001c0001t0016g0003 a0001c0001t0022g0019 a0001c0001t0024g0058 a0001c0001t0026g0056 a0001c0001t0033g0038 a0001c0003t0001g0072 a0001c0003t0002g0043 a0001c0003t0003g0026 a0001c0004t0020g0011 a0001c0005t0004g0083 a0001c0005t0004g0086 a0001c0005t0027g0085 a0001c0009t0021g0015 a0002c0002t0001g0059 a0002c0002t0002g0021 a0002c0002t0002g0030 a0002c0002t0005g0029 a0002c0002t0011g0040 a0002c0002t0013g0005 a0002c0013t0019g0014 a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 a0003c0006t0003g0039	40	50	0.8000	-36	c.54- others(53): Show c.54-28517_54-28482delTATATAAAATATAAATATATATTTATAT ATAAATAA		AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24						chr2	TogoVar
AFG3L2_chr18_12323944_12382227	12331808	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0280	1	10	0.1000	-36	c.217 others(55): Show c.2176-2061_2176-2026delATATATATATATATATATATATATAT ATATATATAT		AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	16/16						chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12333056	GATTATAA others(29): Show GATTATAATCTATTATATAACTATTATATAATAGATT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02622.hp1 others(8): Show HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 others(7): Show a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0002t0002g0008 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072	11	374	0.0294	-36	c.217 others(55): Show c.2176-3309_2176-3274delAATCTATTATATAATAGTTATATAAT AGATTATAAT		AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	16/16						chr18	TogoVar
AGBL1_chr15_86074871_86921156	86636702	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0039 a0007c0016t0039	a0007c0016t0039g0130 a0007c0016t0039g0130	1	102	0.0098	-36	c.299 others(57): Show c.2995-37549_2995-37514delTATATATATATATATATATATATA TATATATATATA		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86827333	ATATATGT others(29): Show ATATATGTGTATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20300.hp1 NA20300.hp2 HG02976.hp1 NA20300.hp1 NA20300.hp2	a0003 a0004 a0009 a0003 a0004 a0009	a0003c0026 a0004c0009 a0009c0039 a0003c0026 a0004c0009 a0009c0039	a0003c0026t0023 a0004c0009t0003 a0009c0039t0023 a0003c0026t0023 a0004c0009t0003 a0009c0039t0023	a0003c0026t0023g0050 a0004c0009t0003g0095 a0009c0039t0023g0020 a0003c0026t0023g0050 a0004c0009t0003g0095 a0009c0039t0023g0020	3	128	0.0234	-36	c.315 others(57): Show c.3159-79748_3159-79713delGTGTATATATATATATATATATAT GTGTGTGTATAT		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86827362	TGTGTGTG others(29): Show TGTGTGTGTATATATATATATACACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0013 a0021c0038t0013	a0021c0038t0013g0091 a0021c0038t0013g0091	1	131	0.0076	-36	c.315 others(57): Show c.3159-79724_3159-79689delGTGTGTGTATATATATATATACAC ATATATATATAC		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22						chr15	TogoVar
AGBL1_chr15_86074871_86921156	86827432	CATATATA others(29): Show CATATATATATGTGTGTGTATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0095 a0004c0009t0003g0095	1	82	0.0122	-36	c.315 others(57): Show c.3159-79653_3159-79618delTATATATATGTGTGTGTATATATA TATATATATATA		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	48980718	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03471.hp1 others(1): Show HG02922.hp2 HG02970.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0087 a0001c0001t0002g0084 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0087 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0007g0085	4	16	0.2500	-36	c.594 others(55): Show c.594+64830_594+64865delATATATATATATATATATATATATAT ATATATATAT		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13						chr1	TogoVar
AGBL4_chr1_48527854_50028954	49237512	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01071.hp2 others(37): Show HG00609.hp1 HG00639.hp2 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02155.hp2 HG02451.hp2 HG02559.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp1 NA18946.hp1 NA18970.hp1 NA18977.hp1 NA18983.hp2 NA19002.hp1 NA19068.hp2 NA19082.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0002t0004 a0001c0004t0003 a0001c0004t0010 a0002c0003t0001 a0002c0003t0008 a0004c0005t0008	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(37): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0002g0007 a0001c0001t0002g0044 a0001c0001t0002g0075 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0004g0041 a0001c0001t0004g0078 a0001c0001t0004g0081 a0001c0001t0004g0095 a0001c0001t0005g0028 a0001c0001t0005g0091 a0001c0001t0006g0045 a0001c0001t0008g0047 a0001c0001t0009g0039 a0001c0001t0010g0027 a0001c0001t0011g0010 a0001c0001t0013g0006 a0001c0001t0013g0090 a0001c0001t0016g0001 a0001c0002t0004g0076 a0001c0004t0003g0026 a0001c0004t0003g0051 a0001c0004t0003g0052 a0001c0004t0010g0048 a0002c0003t0001g0070 a0002c0003t0008g0088 a0004c0005t0008g0046	40	42	0.9524	-36	c.377 others(53): Show c.377+8222_377+8257delTATATATATATATATATATATATATATA TATATATA		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	4/13						chr1	TogoVar
AGBL4_chr1_48527854_50028954	49947952	ATATATAT others(29): Show ATATATATATAAATATATATATTTATAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0062 a0001c0004t0003g0064 a0001c0004t0003g0062 a0001c0004t0003g0064	2	54	0.0370	-36	c.34+ others(53): Show c.34+75775_34+75810delAATATATATTTATAAATATATATATTTA TATATATA		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13						chr1	TogoVar
AGL_chr1_99845361_99929020	99856306	TCCTCCCT others(29): Show TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01361.hp2 others(22): Show HG00140.hp1 HG01256.hp1 HG01361.hp2 HG01517.hp1 HG01981.hp1 HG02004.hp1 HG02559.hp1 HG02602.hp1 HG02970.hp1 HG03017.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 NA18939.hp2 NA18945.hp2 NA18951.hp1 NA18971.hp2 NA18972.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0022	a0001c0001 a0002c0007 a0004c0004 others(2): Show a0001c0001 a0002c0007 a0004c0004 a0012c0033 a0022c0023	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0002c0007t0006 a0004c0004t0004 a0012c0033t0004 a0022c0023t0004	a0001c0001t0001g0257 a0001c0001t0005g0250 a0001c0001t0008g0258 others(21): Show a0001c0001t0001g0257 a0001c0001t0005g0250 a0001c0001t0008g0258 a0002c0007t0006g0266 a0004c0004t0004g0015 a0004c0004t0004g0016 a0004c0004t0004g0017 a0004c0004t0004g0248 a0004c0004t0004g0249 a0004c0004t0004g0251 a0004c0004t0004g0252 a0004c0004t0004g0253 a0004c0004t0004g0254 a0004c0004t0004g0255 a0004c0004t0004g0256 a0004c0004t0004g0259 a0004c0004t0004g0260 a0004c0004t0004g0261 a0004c0004t0004g0262 a0004c0004t0004g0263 a0004c0004t0004g0264 a0004c0004t0004g0265 a0012c0033t0004g0016 a0022c0023t0004g0017	25	252	0.0992	-36	c.83- others(51): Show c.83-5181_83-5146delTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT		AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
AGMAT_chr1_15566699_15590051	15581582	ATTTGAAT others(29): Show ATTTGAATTTAGGCCGGGCGTGGTGGCTCACGCCTGT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0195	1	388	0.0026	-36	c.476 others(53): Show c.476-1476_476-1441delACAGGCGTGAGCCACCACGCCCGGCCTA AATTCAAA		AGMAT	ENSG00000116771.6	transcript	ENST00000375826.4	protein_coding	2/6						chr1	TogoVar
AGMO_chr7_15195317_15567015	15198221	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 NA18612.hp1 HG01074.hp1 NA18612.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0003 a0005c0010t0003 a0001c0001t0003 a0005c0010t0003	a0001c0001t0003g0168 a0005c0010t0003g0194 a0001c0001t0003g0168 a0005c0010t0003g0194	2	234	0.0085	-36	c.30 others(47): Show c.3028_*3063delGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding					2095		chr7	TogoVar
AGMO_chr7_15195317_15567015	15198238	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG03834.hp2 HG01074.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0147 a0001c0001t0001g0162	2	234	0.0085	-36	c.30 others(47): Show c.3011_*3046delACTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTC TC		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding					2078		chr7	TogoVar
AGMO_chr7_15195317_15567015	15354411	CGTGTGTG others(29): Show CGTGTGTGTATACACACACGTGTGTGTATACACACGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0189 a0001c0003t0001g0189	1	209	0.0048	-36	c.126 others(57): Show c.1263+11067_1263+11102delACGTGTGTATACACACACGTGTGT GTATACACACAC		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15354464	GTGTGTAT others(29): Show GTGTGTATACACACGTGTGTATATACACACGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp2 HG02922.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0007 a0001c0001t0001 a0003c0009t0007	a0001c0001t0001g0203 a0003c0009t0007g0005 a0001c0001t0001g0203 a0003c0009t0007g0005	2	225	0.0089	-36	c.126 others(57): Show c.1263+11014_1263+11049delTATACACGTGTGTATATACACACG TGTGTATACACA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGO2_chr8_140515156_140640633	140607451	AGAAAAAT others(29): Show AGAAAAATTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00642.hp1 others(39): Show HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02293.hp2 HG02300.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18951.hp1 NA18970.hp2 NA18971.hp2 NA18994.hp1 NA18998.hp2 NA19060.hp1 NA19074.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0024 a0001c0001t0039 a0001c0001t0045 a0001c0001t0047 a0001c0001t0073 a0001c0001t0074 a0001c0001t0092 a0001c0001t0100 a0001c0001t0104 a0001c0001t0108 a0001c0001t0109 a0001c0001t0131 a0001c0001t0136 a0001c0002t0002 a0001c0002t0080 a0001c0002t0082 a0001c0003t0001 a0001c0003t0017 a0001c0004t0004 a0001c0004t0093 a0001c0004t0140 a0001c0006t0042 a0001c0016t0096	a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0118 others(38): Show a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0265 a0001c0001t0001g0286 a0001c0001t0004g0135 a0001c0001t0009g0005 a0001c0001t0009g0116 a0001c0001t0024g0002 a0001c0001t0024g0004 a0001c0001t0039g0122 a0001c0001t0039g0125 a0001c0001t0045g0147 a0001c0001t0045g0149 a0001c0001t0047g0113 a0001c0001t0073g0144 a0001c0001t0074g0128 a0001c0001t0092g0057 a0001c0001t0100g0141 a0001c0001t0104g0111 a0001c0001t0108g0120 a0001c0001t0109g0121 a0001c0001t0131g0266 a0001c0001t0136g0140 a0001c0002t0002g0119 a0001c0002t0002g0148 a0001c0002t0080g0086 a0001c0002t0082g0134 a0001c0003t0001g0126 a0001c0003t0017g0136 a0001c0004t0004g0137 a0001c0004t0004g0145 a0001c0004t0093g0278 a0001c0004t0140g0336 a0001c0006t0042g0133 a0001c0016t0096g0123	42	326	0.1288	-36	c.23- others(53): Show c.23-22176_23-22141delATATATATATATATATATATATATATAT AATTTTTC		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
AGO2_chr8_140515156_140640633	140607481	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02109.hp1 HG02451.hp1 others(15): Show HG01975.hp2 HG02109.hp1 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0017	a0001c0001t0014 a0001c0001t0034 a0001c0001t0066 others(8): Show a0001c0001t0014 a0001c0001t0034 a0001c0001t0066 a0001c0003t0006 a0001c0003t0030 a0001c0003t0060 a0001c0003t0065 a0001c0003t0123 a0001c0004t0063 a0001c0005t0007 a0001c0017t0006	a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 others(15): Show a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0034g0198 a0001c0001t0066g0108 a0001c0003t0006g0292 a0001c0003t0006g0316 a0001c0003t0006g0317 a0001c0003t0006g0325 a0001c0003t0006g0327 a0001c0003t0006g0328 a0001c0003t0030g0318 a0001c0003t0060g0323 a0001c0003t0065g0291 a0001c0003t0123g0321 a0001c0004t0063g0290 a0001c0005t0007g0319 a0001c0017t0006g0320	18	335	0.0537	-36	c.23- others(53): Show c.23-22206_23-22171delGTATATATATATATATATATATATATAT ATATATAT		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar

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