Joint Open Genome and Omics Platform (JoGo)

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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
CYP4Z1_chr1_47062231_47123318	47076844	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	2	0.5000	48	c.320 others(65): Show c.320-3761_320-3760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA		CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
DACT2_chr6_168301904_168324777	168311594	A A	ACACACTC others(41): Show ACACACTCACACCCATACACACACACTCACACACAAACACACACCCATC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	356	0.0028	48	c.247 others(63): Show c.247-311_247-310insGATGGGTGTGTGTTTGTGTGTGAGTGTGTG TGTATGGGTGTGAGTGTG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
DACT2_chr6_168301904_168324777	168311594	A A	ACACTCAC others(41): Show ACACTCACACCCATACACACACACTCACACACAAACACACACACCCATC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19080.hp1 NA18994.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0225 a0001c0001t0002g0156 a0001c0001t0001g0225 a0001c0001t0002g0156	2	357	0.0056	48	c.247 others(63): Show c.247-311_247-310insGATGGGTGTGTGTGTTTGTGTGTGAGTGTG TGTGTATGGGTGTGAGTG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
DACT2_chr6_168301904_168324777	168311596	A A	ACACTCAC others(41): Show ACACTCACACCCATACACACACACTCACACACAAACACACACACCCATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp2 others(45): Show HG00423.hp2 HG00438.hp1 HG00609.hp2 HG01175.hp1 HG01496.hp1 HG01928.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG03704.hp1 HG03927.hp2 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0016 a0001c0001 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0011c0016t0001 a0001c0001t0001 a0001c0001t0002 a0011c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0050 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0002g0139 a0001c0001t0002g0152 a0001c0001t0002g0162 a0011c0016t0001g0274	48	470	0.1021	48	c.247 others(63): Show c.247-313_247-312insGATGGGTGTGTGTGTTTGTGTGTGAGTGTG TGTGTATGGGTGTGAGTG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGAAAGG others(41): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02897.hp1 NA18974.hp1 others(1): Show HG01243.hp1 HG02897.hp1 NA18974.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0071 a0001c0001t0002g0239 a0001c0001t0002g0248 others(1): Show a0001c0001t0002g0071 a0001c0001t0002g0239 a0001c0001t0002g0248 a0001c0002t0001g0285	4	142	0.0282	48	c.27 others(59): Show c.2752_*2753insAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA		DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding					2245		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571454	C C	CACACACA others(41): Show CACACACACACCCCAACACACACACACACACACACACACACACCCCCCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0215 a0002c0011t0002g0215	1	234	0.0043	48	c.63- others(65): Show c.63-33490_63-33489insCCCAACACACACACACACACACACACAC ACACCCCCCAACACACACAC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64036309	G G	GTGTGTAT others(41): Show GTGTGTATATATGTATATATATATATATGTATATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	108	0.0093	48	c.92+ others(63): Show c.92+3860_92+3861insTATATATGTATATATATATACATATATATA TATATACATATATACACA		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11						chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036315	A A	ATGTATAT others(41): Show ATGTATATATATATATATGTATATATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	210	0.0048	48	c.92+ others(63): Show c.92+3854_92+3855insCATATATATATATATATGTATATATATATA CATATATATATATATACA		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11						chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(41): Show GTATATATATATATATGTATATATATATACATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	86	0.0116	48	c.92+ others(63): Show c.92+3850_92+3851insTACATATATATATATATATGTATATATATA TACATATATATATATATA		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11						chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(41): Show GTATATATATATATATGTATATATATATACATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02071.hp2 HG01346.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0175 a0001c0001t0001g0181	2	87	0.0230	48	c.92+ others(63): Show c.92+3850_92+3851insTATACATATATATATATATGTATATATATA TACATATATATATATATA		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11						chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(41): Show GTATATATATATATGTATATATATATACATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02257.hp2 HG01256.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	87	0.0230	48	c.92+ others(63): Show c.92+3850_92+3851insTATACATATATATATATATATGTATATATA TATACATATATATATATA		DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11						chr15	TogoVar
DAW1_chr2_227866631_227929344	227911247	C C	CATATATA others(41): Show CATATATACACGTGTATATATACATATATACACGTGTATATATACATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	338	0.0030	48	c.973 others(65): Show c.973+4014_973+4015insTACATATATACACGTGTATATATACATA TATATATACACGTGTATATA		DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCAF4_chr14_72921464_72964703	72928585	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0258 a0001c0007t0008g0258	1	6	0.1667	48	c.-9+ others(63): Show c.-9+2074_-9+2075insTATATATATATATATATATATATATATATA TATATATATATATATATA		DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	59	0.0169	48	c.665 others(67): Show c.665+10451_665+10452insATATATATATATATATATATATATAT ATATATATATATATATATATAT		DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8						chr14	TogoVar
DCC_chr18_52335197_53540899	53300958	A A	ATTCTTTC others(41): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03669.hp1 HG01255.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0066 a0002c0001t0001g0067 a0001c0002t0001g0066 a0002c0001t0001g0067	2	80	0.0250	48	c.191 others(67): Show c.1912-4617_1912-4616insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300962	A A	ATTCTTTC others(41): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0015 a0002c0025t0001g0015	1	24	0.0417	48	c.191 others(67): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACATA others(41): Show CACACATATACATATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0123 a0001c0006t0002g0123	1	114	0.0088	48	c.105 others(67): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATGTATATGTATATGTGT		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38						chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACATA others(41): Show CACACATATACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	114	0.0088	48	c.105 others(67): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATATATATGTATATGTGT		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38						chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250421	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	77	0.0130	48	c.105 others(67): Show c.1055-8806_1055-8805insATATGTATATATATATATATATATAT ATATATATATATATATATATAT		DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38						chr11	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCGAG others(41): Show AGAGCGAGAGAGCGAGCGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02895.hp1 others(2): Show HG02258.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG03209.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0002c0002t0022 a0003c0003t0005 a0002c0002t0004 a0002c0002t0022 a0003c0003t0005	a0002c0002t0004g0077 a0002c0002t0022g0098 a0002c0002t0022g0099 others(2): Show a0002c0002t0004g0077 a0002c0002t0022g0098 a0002c0002t0022g0099 a0003c0003t0005g0033 a0003c0003t0005g0080	5	54	0.0926	48	c.923 others(67): Show c.923-15778_923-15777insGCTCGCTCACTCTCTCGCTCGCTCGC TCACTCGCTCGCTCTCTCGCTC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCGAG others(41): Show AGAGCGAGCGAGCGAGCGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0139 a0003c0003t0002g0139	1	50	0.0200	48	c.923 others(67): Show c.923-15778_923-15777insGCTCGCTCACTCTCTCGCTCGCTCGC TCACTCGCTCGCTCGCTCGCTC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DCDC2_chr6_24166755_24363059	24220895	C C	CGAGCGAG others(41): Show CGAGCGAGCGAGAGAGTGAGCGAGAGAGCGAGCGAGCGAGCGAGAGAGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0192 a0001c0001t0016g0192	1	212	0.0047	48	c.923 others(67): Show c.923-15794_923-15793insACTCTCTCGCTCGCTCGCTCGCTCTC TCGCTCACTCTCTCGCTCGCTC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DCDC2_chr6_24166755_24363059	24359355	A A	ATATATTA others(41): Show ATATATTATATATTATATATATTTTATATATTATATATTATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0176 a0004c0009t0004g0176	1	128	0.0078	48	c.-16 others(59): Show c.-1606_-1605insAAATATATATAATATATAATATATAAAATATATA TAATATATAATATA		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding					1297		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG01517.hp1 others(10): Show HG01168.hp1 HG01515.hp1 HG01517.hp1 HG02071.hp1 HG02622.hp1 HG02897.hp2 HG03490.hp2 NA18945.hp1 NA18945.hp2 NA18990.hp1 NA18994.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0002t0024 a0001c0002t0030 a0001c0003t0003 a0001c0004t0048 a0001c0005t0002 a0001c0005t0020 a0001c0007t0005 a0001c0007t0034 a0001c0009t0005	a0001c0001t0002g0139 a0001c0001t0003g0053 a0001c0001t0014g0084 others(10): Show a0001c0001t0002g0139 a0001c0001t0003g0053 a0001c0001t0014g0084 a0001c0002t0024g0193 a0001c0002t0030g0125 a0001c0003t0003g0033 a0001c0004t0048g0217 a0001c0005t0002g0072 a0001c0005t0020g0146 a0001c0005t0020g0147 a0001c0007t0005g0195 a0001c0007t0034g0018 a0001c0009t0005g0221	13	25	0.5200	48	c.103 others(67): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16						chr13	TogoVar
DCLK1_chr13_35763652_36136382	35867848	G G	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp2 HG00597.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0022 a0001c0003t0001g0010 a0001c0003t0001g0022	2	170	0.0118	48	c.940 others(65): Show c.940+3375_940+3376insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTCTTTCTTTCTTTCTT		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	5/16						chr13	TogoVar
DCLK2_chr4_150073445_150262438	150247556	T T	TCTACGGT others(41): Show TCTACGGTGACTTTGACTTTTCTTCCATTTCTTTGTCACTGGCTTAGTG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	114	0.0088	48	c.177 others(60): Show c.1779-46_1780dupCTACGGTGACTTTGACTTTTCTTCCATTTCTTT GTCACTGGCTTAGTG	p.Ser others(61): Show p.Ser593_Glu594insAlaThrValThrLeuThrPheLeuProPheLe uCysHisTrpLeuSer	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	13/16	2364/4075	1781/2301	594/766		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251056	T T	TCCCCCAC others(41): Show TCCCCCACACCCCCCACACCCCCCACACCCCCCACATCTCCCCACACAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	38	0.0263	48	c.207 others(67): Show c.2073+1382_2073+1383insCCCCACACCCCCCACACCCCCCACAT CTCCCCACACACCCCCCACACC		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DCP1A_chr3_53278429_53352543	53291215	A A	ATTTATGT others(41): Show ATTTATGTATATGTATTTATGTATATGTATTTATGTATATGTATTTATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00673.hp1 others(44): Show HG00323.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01243.hp1 HG01515.hp2 HG02040.hp2 HG02135.hp2 HG02258.hp2 HG02300.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03195.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG04204.hp2 NA18949.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18985.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19043.hp2 NA19062.hp2 NA19077.hp2 NA19082.hp2 NA19086.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0002t0011 a0001c0002t0019 others(5): Show a0001c0002t0003 a0001c0002t0011 a0001c0002t0019 a0001c0002t0032 a0001c0002t0047 a0001c0002t0056 a0001c0005t0021 a0001c0005t0031	a0001c0002t0003g0021 a0001c0002t0003g0149 a0001c0002t0003g0151 others(43): Show a0001c0002t0003g0021 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0165 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0175 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0011g0147 a0001c0002t0011g0148 a0001c0002t0011g0157 a0001c0002t0011g0161 a0001c0002t0011g0164 a0001c0002t0011g0166 a0001c0002t0011g0167 a0001c0002t0011g0174 a0001c0002t0011g0225 a0001c0002t0019g0205 a0001c0002t0019g0206 a0001c0002t0019g0218 a0001c0002t0032g0217 a0001c0002t0032g0219 a0001c0002t0047g0170 a0001c0002t0056g0150 a0001c0005t0021g0022 a0001c0005t0021g0023 a0001c0005t0021g0024 a0001c0005t0021g0025 a0001c0005t0031g0002	47	361	0.1302	48	c.138 others(65): Show c.1384-360_1384-359insCATAAATACATATACATAAATACATATA CATAAATACATATACATAAA		DCP1A	ENSG00000272886.6	transcript	ENST00000610213.6	protein_coding	7/9						chr3	TogoVar
DCSTAMP_chr8_104334826_104361689	104337701	C C	CTCTCTCT others(41): Show CTCTCTCTCTTTCTCTCTCTCTCTTTCTTTCTTTTTCTCTTTCTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	432	0.0023	48	c.-21 others(59): Show c.-2174_-2173insTCTCTCTCTTTCTCTCTCTCTCTTTCTTTCTTTT TCTCTTTCTCCCTT		DCSTAMP	ENSG00000164935.6	transcript	ENST00000297581.2	protein_coding					2124		chr8	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	67	0.0149	48	c.12 others(61): Show c.12593_*12594insTATATATATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGA		DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding					920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0171 a0001c0001t0053g0171	1	67	0.0149	48	c.12 others(61): Show c.12593_*12594insTATATATATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA		DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding					920		chr11	TogoVar
DDA1_chr19_17304563_17328298	17315197	G G	GTATATAC others(41): Show GTATATACACACACGTGTATATACACACGTGTATATACACACACGTGTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0105 a0001c0001t0034g0105	1	361	0.0028	48	c.137 others(63): Show c.137-733_137-732insTACACACACGTGTATATACACACGTGTATA TACACACACGTGTATATA		DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX11_chr12_31068860_31109799	31093720	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	192	0.0052	48	c.136 others(65): Show c.1369+420_1369+421insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA		DDX11	ENSG00000013573.17	transcript	ENST00000542838.6	protein_coding	12/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX18_chr2_117809691_117837377	117835132	T T	TAGATGTA others(41): Show TAGATGTAGCAGCTTTCTCATCCAGGGTCCAGAGGCAGCTGTGTTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0001 a0002c0001t0005g0001	1	412	0.0024	48	c.44 others(59): Show c.4408_*4409insAGATGTAGCAGCTTTCTCATCCAGGGTCCAGAGG CAGCTGTGTTGGGA		DDX18	ENSG00000088205.13	transcript	ENST00000263239.7	protein_coding					2756		chr2	TogoVar
DDX18_chr2_117809691_117837377	117836400	T T	TGGAAGGA others(41): Show TGGAAGGACAGTCTTACCCGGACGCCACGGTGGTCTCCCGGCAGCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012 a0014 a0015	a0001c0002 a0001c0003 a0001c0010 others(13): Show a0001c0002 a0001c0003 a0001c0010 a0001c0011 a0001c0016 a0001c0017 a0002c0001 a0002c0004 a0002c0021 a0003c0005 a0004c0007 a0006c0008 a0008c0013 a0012c0022 a0014c0019 a0015c0023	a0001c0002t0001 a0001c0002t0018 a0001c0002t0019 others(25): Show a0001c0002t0001 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0003t0001 a0001c0003t0006 a0001c0003t0016 a0001c0003t0017 a0001c0010t0008 a0001c0011t0006 a0001c0016t0008 a0001c0017t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0013 a0002c0001t0014 a0002c0001t0021 a0002c0001t0022 a0002c0004t0002 a0002c0021t0002 a0003c0005t0001 a0004c0007t0004 a0006c0008t0012 a0008c0013t0001 a0012c0022t0005 a0014c0019t0001 a0015c0023t0002	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 others(105): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0018g0002 a0001c0002t0019g0096 a0001c0002t0020g0002 a0001c0003t0001g0027 a0001c0003t0006g0005 a0001c0003t0006g0026 a0001c0003t0006g0034 a0001c0003t0006g0035 a0001c0003t0006g0064 a0001c0003t0006g0066 a0001c0003t0016g0005 a0001c0003t0017g0005 a0001c0010t0008g0114 a0001c0010t0008g0115 a0001c0011t0006g0005 a0001c0011t0006g0026 a0001c0016t0008g0113 a0001c0017t0001g0004 a0002c0001t0002g0001 a0002c0001t0002g0006 a0002c0001t0002g0011 a0002c0001t0002g0013 a0002c0001t0002g0015 a0002c0001t0002g0016 a0002c0001t0002g0021 a0002c0001t0002g0025 a0002c0001t0002g0031 a0002c0001t0002g0032 a0002c0001t0002g0033 a0002c0001t0002g0048 a0002c0001t0002g0050 a0002c0001t0002g0052 a0002c0001t0002g0054 a0002c0001t0002g0059 a0002c0001t0002g0060 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0081 a0002c0001t0002g0083 a0002c0001t0004g0009 a0002c0001t0004g0014 a0002c0001t0004g0017 a0002c0001t0004g0023 a0002c0001t0004g0040 a0002c0001t0004g0045 a0002c0001t0004g0046 a0002c0001t0004g0047 a0002c0001t0004g0076 a0002c0001t0004g0077 a0002c0001t0004g0078 a0002c0001t0004g0082 a0002c0001t0005g0001 a0002c0001t0005g0011 a0002c0001t0005g0016 a0002c0001t0005g0024 a0002c0001t0005g0055 a0002c0001t0005g0057 a0002c0001t0005g0058 a0002c0001t0005g0084 a0002c0001t0013g0049 a0002c0001t0014g0001 a0002c0001t0021g0051 a0002c0001t0022g0056 a0002c0004t0002g0001 a0002c0021t0002g0001 a0003c0005t0001g0002 a0003c0005t0001g0004 a0004c0007t0004g0085 a0004c0007t0004g0086 a0004c0007t0004g0087 a0006c0008t0012g0070 a0006c0008t0012g0071 a0008c0013t0001g0010 a0012c0022t0005g0053 a0014c0019t0001g0002 a0015c0023t0002g0033	314	408	0.7696	48	c.56 others(59): Show c.5676_*5677insGGAAGGACAGTCTTACCCGGACGCCACGGTGGTC TCCCGGCAGCCCTG		DDX18	ENSG00000088205.13	transcript	ENST00000263239.7	protein_coding					4024		chr2	TogoVar
DDX18_chr2_117809691_117837377	117836476	G G	GGTGGTCT others(41): Show GGTGGTCTCCCGGCAGCCCTGGGAAGGACAGTCTTACCCGGACGCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG01891.hp1 HG02896.hp2 HG02897.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0005 a0001c0003t0006g0026 a0001c0003t0006g0065 a0001c0003t0006g0005 a0001c0003t0006g0026 a0001c0003t0006g0065	4	412	0.0097	48	c.57 others(59): Show c.5752_*5753insGTGGTCTCCCGGCAGCCCTGGGAAGGACAGTCTT ACCCGGACGCCACA		DDX18	ENSG00000088205.13	transcript	ENST00000263239.7	protein_coding					4100		chr2	TogoVar
DDX31_chr9_132587997_132674983	132632252	A A	ACACACAC others(41): Show ACACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	395	0.0025	48	c.144 others(65): Show c.1441-162_1441-161insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG		DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19						chr9	TogoVar
DDX31_chr9_132587997_132674983	132632254	A A	ACACACAC others(41): Show ACACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	390	0.0026	48	c.144 others(65): Show c.1441-164_1441-163insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG		DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19						chr9	TogoVar
DDX31_chr9_132587997_132674983	132632256	A A	ACACACAC others(41): Show ACACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	397	0.0025	48	c.144 others(65): Show c.1441-213_1441-166dupCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG		DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19						chr9	TogoVar
DDX31_chr9_132587997_132674983	132632258	A A	ACACACAC others(41): Show ACACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	400	0.0025	48	c.144 others(65): Show c.1441-168_1441-167insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG		DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19						chr9	TogoVar
DDX47_chr12_12808346_12834981	12809758	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	218	0.0046	48	c.-36 others(59): Show c.-3610_-3609insTATATATATATATATATATATATATATATATATA TATATATGTATATA		DDX47	ENSG00000213782.7	transcript	ENST00000358007.7	protein_coding					3587		chr12	TogoVar
DEAF1_chr11_639233_700222	640017	C C	CCCCTGCG others(41): Show CCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03688.hp1 HG00735.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0290 a0001c0002t0001g0222 a0001c0001t0001g0290 a0001c0002t0001g0222	2	344	0.0058	48	c.44 others(59): Show c.4485_*4532dupACCCCGGGGAAGGCCGGGCGCGGGGGGCGCACAG TCGGGGCCGCAGGG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding					4215		chr11	TogoVar
DEAF1_chr11_639233_700222	640023	C C	CGGCCCCG others(41): Show CGGCCCCGACTGTGCGCCCCCCGCGCCCAGCCTCCCCCAGGACCCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02165.hp2 NA18944.hp1 others(3): Show HG00673.hp1 HG02165.hp2 NA18944.hp1 NA18970.hp1 NA19004.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0058 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0003t0001g0153	6	343	0.0175	48	c.45 others(59): Show c.4526_*4527insACAGGGGTCCTGGGGGAGGCTGGGCGCGGGGGGC GCACAGTCGGGGCC		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding					4209		chr11	TogoVar
DEAF1_chr11_639233_700222	640090	G G	GCCGCGCC others(41): Show GCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	293	0.0034	48	c.44 others(59): Show c.4459_*4460insGGGGCGCACAGTCGGGGCCGCAGGGGTCCGGGGG GAGGCCGGGCGCGG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding					4142		chr11	TogoVar
DEFA1B_chr8_6991766_7004198	6993362	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	48	c.35 others(59): Show c.3524_*3525insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA		DEFA1B	ENSG00000240247.8	transcript	ENST00000382689.8	protein_coding					3403		chr8	TogoVar
DEFA3_chr8_7010869_7023297	7012465	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01515.hp1 HG01257.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	424	0.0047	48	c.35 others(59): Show c.3524_*3525insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA		DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding					3403		chr8	TogoVar
DEFB124_chr20_31460471_31480127	31466618	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	360	0.0028	48	c.59- others(61): Show c.59-956_59-955insTTATATATATATATATATATATATATATATAT ATATATATATATATAT		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(105): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG02040.hp2 HG02056.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18998.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(71): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0003c0002t0002g0109	108	348	0.3103	48	c.58+ others(63): Show c.58+2345_58+2346insTCAGCCCCCCGCCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGG		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02818.hp2 others(3): Show HG01891.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0116 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0116	6	246	0.0244	48	c.58+ others(63): Show c.58+2345_58+2346insTCAGCCCCCCACCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGG		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEGS2_chr14_100138957_100164645	100161561	G G	GGGATCCT others(41): Show GGGATCCTGGAGCAGAAAAAGGACATTAGGTAAAGCTAAGGAAAGCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0213 a0003c0004t0001g0213	1	438	0.0023	48	c.-19 others(59): Show c.-1975_-1974insTAGGCTTTCCTTAGCTTTACCTAATGTCCTTTTT CTGCTCCAGGATCC		DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding					1917		chr14	TogoVar

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