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	status	chr	external
AARD_chr8_116933207_116949487	116938485	AGGCGGC AGGCGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp1 HG02647.hp1 HG02809.hp1 others(1): Show HG02257.hp1 HG02647.hp1 HG02809.hp1 HG03041.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0007 a0005c0005t0007g0007	4	440	0.0091	-6	c.259 others(13): Show c.259_264delGCGGCG	p.Ala others(11): Show p.Ala87_Ala88del	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/2	296/2291	259/468	87/155	INFO_REALIGN_3_PRIME	chr8	TogoVar
AASDH_chr4_56333290_56392491	56378269	GTTC GTTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show HG01884.hp1 HG02145.hp1 HG02630.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 NA19043.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 others(5): Show a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 a0005c0007t0003g0038 a0005c0007t0003g0039 a0005c0007t0003g0040	8	380	0.0211	-3	c.544 others(10): Show c.544_546delGAA	p.Glu others(6): Show p.Glu182del	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	4/15	718/3581	544/3297	182/1098		chr4	TogoVar
ACAN_chr15_88798436_88880353	88855507	TGGGCTTC others(50): Show TGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGG ACATCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00544.hp2 HG01081.hp1 HG01192.hp1 others(28): Show HG00544.hp2 HG01081.hp1 HG01192.hp1 HG01496.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02523.hp2 HG03490.hp1 NA18942.hp2 NA18946.hp1 NA18953.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19091.hp2	a0002 a0042 a0053 a0002 a0042 a0053	a0002c0003 a0002c0010 a0002c0033 others(7): Show a0002c0003 a0002c0010 a0002c0033 a0002c0080 a0002c0081 a0002c0082 a0002c0121 a0042c0092 a0042c0093 a0053c0090	a0002c0003t0001 a0002c0010t0001 a0002c0033t0001 others(7): Show a0002c0003t0001 a0002c0010t0001 a0002c0033t0001 a0002c0080t0001 a0002c0081t0001 a0002c0082t0001 a0002c0121t0001 a0042c0092t0001 a0042c0093t0001 a0053c0090t0001	a0002c0003t0001g0031 a0002c0003t0001g0033 a0002c0003t0001g0037 others(28): Show a0002c0003t0001g0031 a0002c0003t0001g0033 a0002c0003t0001g0037 a0002c0003t0001g0049 a0002c0003t0001g0056 a0002c0003t0001g0061 a0002c0003t0001g0065 a0002c0003t0001g0079 a0002c0003t0001g0137 a0002c0003t0001g0170 a0002c0003t0001g0184 a0002c0003t0001g0242 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0321 a0002c0010t0001g0077 a0002c0010t0001g0078 a0002c0010t0001g0096 a0002c0010t0001g0100 a0002c0010t0001g0102 a0002c0010t0001g0256 a0002c0010t0001g0305 a0002c0033t0001g0331 a0002c0033t0001g0338 a0002c0080t0001g0181 a0002c0081t0001g0074 a0002c0082t0001g0104 a0002c0121t0001g0176 a0042c0092t0001g0141 a0042c0093t0001g0189 a0053c0090t0001g0075	31	340	0.0912	-57	c.323 others(66): Show c.3238_3294delACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACC	p.Thr others(15): Show p.Thr1080_Thr1098del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855507	TGGGCTTC others(107): Show TGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGG ACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGA GTAGAGGACATCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(18): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp2 HG02258.hp1 NA18612.hp2 NA18747.hp1 NA18961.hp2 NA18963.hp1 NA18969.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA19065.hp2 NA19088.hp1	a0005 a0082 a0005 a0082	a0005c0006 a0005c0018 a0005c0047 others(5): Show a0005c0006 a0005c0018 a0005c0047 a0005c0091 a0005c0119 a0005c0130 a0005c0131 a0082c0158	a0005c0006t0001 a0005c0018t0001 a0005c0047t0001 others(5): Show a0005c0006t0001 a0005c0018t0001 a0005c0047t0001 a0005c0091t0001 a0005c0119t0001 a0005c0130t0001 a0005c0131t0001 a0082c0158t0001	a0005c0006t0001g0021 a0005c0006t0001g0029 a0005c0006t0001g0127 others(18): Show a0005c0006t0001g0021 a0005c0006t0001g0029 a0005c0006t0001g0127 a0005c0006t0001g0135 a0005c0006t0001g0143 a0005c0006t0001g0179 a0005c0006t0001g0200 a0005c0006t0001g0234 a0005c0006t0001g0332 a0005c0006t0001g0335 a0005c0018t0001g0072 a0005c0018t0001g0126 a0005c0018t0001g0173 a0005c0018t0001g0337 a0005c0047t0001g0052 a0005c0047t0001g0053 a0005c0091t0001g0293 a0005c0119t0001g0099 a0005c0130t0001g0040 a0005c0131t0001g0039 a0082c0158t0001g0038	21	330	0.0636	-114	c.318 others(9): Show c.3181_3294del	p.Thr others(15): Show p.Thr1061_Thr1098del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3562/8960	3181/7707	1061/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855652	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02559.hp1 HG02976.hp2 others(1): Show HG02145.hp2 HG02559.hp1 HG02976.hp2 HG03225.hp2	a0025 a0054 a0025 a0054	a0025c0051 a0025c0094 a0054c0144 a0025c0051 a0025c0094 a0054c0144	a0025c0051t0002 a0025c0094t0015 a0054c0144t0011 a0025c0051t0002 a0025c0094t0015 a0054c0144t0011	a0025c0051t0002g0006 a0025c0051t0002g0164 a0025c0094t0015g0277 others(1): Show a0025c0051t0002g0006 a0025c0051t0002g0164 a0025c0094t0015g0277 a0054c0144t0011g0162	4	359	0.0111	-456	c.312 others(9): Show c.3124_3579del	p.Thr others(15): Show p.Thr1042_Thr1193del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3505/8960	3124/7707	1042/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855709	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp2 HG01361.hp2	a0047 a0047	a0047c0109 a0047c0109	a0047c0109t0001 a0047c0109t0001	a0047c0109t0001g0274 a0047c0109t0001g0274	1	282	0.0035	-456	c.318 others(9): Show c.3181_3636del	p.Thr others(15): Show p.Thr1061_Thr1212del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3562/8960	3181/7707	1061/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855766	ACTGCCCC others(392): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02886.hp2 HG02895.hp2 NA18906.hp2 HG02886.hp2 HG02895.hp2 NA18906.hp2	a0038 a0064 a0038 a0064	a0038c0028 a0064c0098 a0038c0028 a0064c0098	a0038c0028t0001 a0038c0028t0009 a0064c0098t0001 a0038c0028t0001 a0038c0028t0009 a0064c0098t0001	a0038c0028t0001g0010 a0038c0028t0009g0159 a0064c0098t0001g0019 a0038c0028t0001g0010 a0038c0028t0009g0159 a0064c0098t0001g0019	3	243	0.0123	-399	c.323 others(9): Show c.3238_3636del	p.Thr others(15): Show p.Thr1080_Thr1212del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(107): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCG	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01192.hp2 HG01192.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0140 a0006c0004t0001g0140	1	142	0.0070	-114	c.323 others(9): Show c.3238_3351del	p.Thr others(15): Show p.Thr1080_Thr1117del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568		chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(221): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCG	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03239.hp1 HG03704.hp1 HG04204.hp1 HG03239.hp1 HG03704.hp1 HG04204.hp1	a0006 a0008 a0017 a0006 a0008 a0017	a0006c0004 a0008c0015 a0017c0068 a0006c0004 a0008c0015 a0017c0068	a0006c0004t0001 a0008c0015t0001 a0017c0068t0012 a0006c0004t0001 a0008c0015t0001 a0017c0068t0012	a0006c0004t0001g0238 a0008c0015t0001g0221 a0017c0068t0012g0228 a0006c0004t0001g0238 a0008c0015t0001g0221 a0017c0068t0012g0228	3	144	0.0208	-228	c.323 others(9): Show c.3238_3465del	p.Thr others(15): Show p.Thr1080_Thr1155del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568		chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(392): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19043.hp1 NA19043.hp1	a0085 a0085	a0085c0067 a0085c0067	a0085c0067t0001 a0085c0067t0001	a0085c0067t0001g0156 a0085c0067t0001g0156	1	142	0.0070	-399	c.323 others(9): Show c.3238_3636del	p.Thr others(15): Show p.Thr1080_Thr1212del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3619/8960	3238/7707	1080/2568		chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(50): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02559.hp1 HG02572.hp2 others(5): Show HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp2 NA18942.hp1	a0001 a0019 a0025 others(1): Show a0001 a0019 a0025 a0054	a0001c0001 a0019c0045 a0019c0126 others(3): Show a0001c0001 a0019c0045 a0019c0126 a0025c0051 a0025c0094 a0054c0144	a0001c0001t0001 a0019c0045t0001 a0019c0045t0008 others(4): Show a0001c0001t0001 a0019c0045t0001 a0019c0045t0008 a0019c0126t0001 a0025c0051t0002 a0025c0094t0015 a0054c0144t0011	a0001c0001t0001g0026 a0019c0045t0001g0347 a0019c0045t0008g0294 others(5): Show a0001c0001t0001g0026 a0019c0045t0001g0347 a0019c0045t0008g0294 a0019c0126t0001g0231 a0025c0051t0002g0006 a0025c0051t0002g0164 a0025c0094t0015g0277 a0054c0144t0011g0162	8	148	0.0541	-57	c.415 others(66): Show c.4150_4206delGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACT	p.Ala others(15): Show p.Ala1384_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4531/8960	4150/7707	1384/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(107): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp2 NA18963.hp2 NA18982.hp2 others(2): Show HG00609.hp2 NA18963.hp2 NA18982.hp2 NA19068.hp2 NA19088.hp2	a0004 a0030 a0081 a0004 a0030 a0081	a0004c0027 a0030c0032 a0081c0072 a0004c0027 a0030c0032 a0081c0072	a0004c0027t0001 a0030c0032t0001 a0081c0072t0001 a0004c0027t0001 a0030c0032t0001 a0081c0072t0001	a0004c0027t0001g0032 a0004c0027t0001g0110 a0030c0032t0001g0115 others(2): Show a0004c0027t0001g0032 a0004c0027t0001g0110 a0030c0032t0001g0115 a0030c0032t0001g0212 a0081c0072t0001g0362	5	145	0.0345	-114	c.409 others(9): Show c.4093_4206del	p.Ala others(15): Show p.Ala1365_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4474/8960	4093/7707	1365/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(164): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0185 a0004c0005t0001g0185	1	141	0.0071	-171	c.403 others(9): Show c.4036_4206del	p.Ala others(15): Show p.Ala1346_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4417/8960	4036/7707	1346/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856221	CGCTGCCC others(278): Show CGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTC TAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGA GAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCG GGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGAC ATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0051 a0001c0009t0001g0051	1	141	0.0071	-285	c.392 others(9): Show c.3922_4206del	p.Ala others(15): Show p.Ala1308_Thr1402del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4303/8960	3922/7707	1308/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856755	CATCAGCG others(164): Show CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAG TAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCC CCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGAC TACTGCCCCTGGAGTAGAGGAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0238 a0006c0004t0001g0238	1	360	0.0028	-171	c.420 others(9): Show c.4207_4377del	p.Thr others(15): Show p.Thr1403_Thr1459del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4588/8960	4207/7707	1403/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACOXL_chr2_110727573_111123548	110995965	GGTTCTTC others(47): Show GGTTCTTCAGCGGGGTTTGGTGGCCAGAATTTATTATAAGGTAAAGATAC ACTGT	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02886.hp1 HG02897.hp1 HG03225.hp2 HG06807.hp1 NA19043.hp1 NA21309.hp2	a0004 a0008 a0004 a0008	a0004c0005 a0008c0008 a0004c0005 a0008c0008	a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0005t0008 a0008c0008t0001	a0004c0005t0001g0069 a0004c0005t0001g0134 a0004c0005t0002g0003 others(8): Show a0004c0005t0001g0069 a0004c0005t0001g0134 a0004c0005t0002g0003 a0004c0005t0002g0019 a0004c0005t0002g0021 a0004c0005t0002g0124 a0004c0005t0002g0125 a0004c0005t0005g0045 a0004c0005t0008g0133 a0008c0008t0001g0014 a0008c0008t0001g0015	11	148	0.0743	-54	c.124 others(66): Show c.1246_1281+18delCTTCAGCGGGGTTTGGTGGCCAGAATTTATTAT AAGGTAAAGATACACTGTGTT	p.Leu others(13): Show p.Leu416_Lys427del	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/18	1470/2699	1246/1743	416/580	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP4_chr19_50785415_50800219	50790456	CCTG CCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02647.hp1 HG02809.hp2 HG01884.hp1 HG02647.hp1 HG02809.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0023 a0004c0006t0001g0036 a0004c0006t0001g0023 a0004c0006t0001g0036	3	378	0.0079	-3	c.58_ others(8): Show c.58_60delCTG	p.Leu others(5): Show p.Leu20del	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	1/11	58/1342	58/1281	20/426	INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3021843	CAGA CAGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(56): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02083.hp2 HG02129.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG03239.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18964.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18991.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19085.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005	a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000	59	364	0.1621	-3	c.163 others(10): Show c.163_165delAAG	p.Lys others(5): Show p.Lys55del	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	383/1437	163/1134	55/377	INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS7_chr15_78754206_78816464	78766598	GCGC GCGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp1 HG01167.hp2 HG01169.hp1 others(43): Show HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19004.hp2 NA19009.hp1 NA19043.hp1 NA19066.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0004 a0009 a0020 others(3): Show a0004 a0009 a0020 a0027 a0045 a0048	a0004c0004 a0004c0018 a0004c0050 others(6): Show a0004c0004 a0004c0018 a0004c0050 a0004c0084 a0009c0009 a0020c0024 a0027c0035 a0045c0056 a0048c0117	a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 others(8): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0018t0001 a0004c0050t0001 a0004c0084t0001 a0009c0009t0001 a0020c0024t0001 a0027c0035t0007 a0045c0056t0003 a0048c0117t0001	a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0309 others(39): Show a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0309 a0004c0004t0001g0310 a0004c0004t0001g0313 a0004c0004t0001g0314 a0004c0004t0001g0332 a0004c0004t0003g0319 a0004c0004t0004g0024 a0004c0004t0004g0316 a0004c0004t0004g0317 a0004c0004t0004g0318 a0004c0004t0004g0320 a0004c0004t0004g0321 a0004c0004t0004g0322 a0004c0004t0004g0323 a0004c0004t0004g0324 a0004c0004t0004g0325 a0004c0004t0004g0326 a0004c0004t0004g0329 a0004c0004t0004g0333 a0004c0018t0001g0188 a0004c0018t0001g0340 a0004c0018t0001g0341 a0004c0018t0001g0342 a0004c0050t0001g0229 a0004c0084t0001g0311 a0009c0009t0001g0020 a0009c0009t0001g0021 a0009c0009t0001g0035 a0009c0009t0001g0042 a0009c0009t0001g0043 a0009c0009t0001g0044 a0009c0009t0001g0282 a0009c0009t0001g0290 a0009c0009t0001g0294 a0020c0024t0001g0022 a0020c0024t0001g0242 a0027c0035t0007g0345 a0027c0035t0007g0347 a0045c0056t0003g0180 a0048c0117t0001g0152	46	378	0.1217	-3	c.331 others(12): Show c.3310_3312delGCG	p.Ala others(7): Show p.Ala1104del	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	19/24	3556/5520	3310/5061	1104/1686		chr15	TogoVar
ADGRG4_chrX_136295963_136421890	136392285	AGAT AGAT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(178): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(19): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0025 a0028 a0030	a0001c0001 a0001c0010 a0001c0033 others(27): Show a0001c0001 a0001c0010 a0001c0033 a0001c0040 a0002c0002 a0002c0005 a0002c0012 a0002c0028 a0004c0004 a0004c0015 a0004c0020 a0005c0006 a0006c0007 a0008c0016 a0009c0031 a0010c0022 a0011c0038 a0013c0041 a0014c0024 a0015c0036 a0016c0014 a0017c0013 a0018c0030 a0019c0037 a0020c0011 a0023c0032 a0024c0017 a0025c0018 a0028c0039 a0030c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0010t0001 a0001c0033t0001 a0001c0040t0001 a0002c0002t0001 a0002c0005t0001 a0002c0012t0001 a0002c0028t0001 a0004c0004t0001 a0004c0015t0001 a0004c0020t0001 a0005c0006t0001 a0006c0007t0001 a0008c0016t0001 a0009c0031t0001 a0010c0022t0001 a0011c0038t0001 a0013c0041t0001 a0014c0024t0001 a0015c0036t0003 a0016c0014t0001 a0017c0013t0001 a0018c0030t0001 a0019c0037t0001 a0020c0011t0001 a0023c0032t0001 a0024c0017t0001 a0025c0018t0001 a0028c0039t0001 a0030c0035t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(177): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0002g0003 a0001c0001t0002g0219 a0001c0001t0003g0194 a0001c0001t0004g0192 a0001c0010t0001g0146 a0001c0010t0001g0169 a0001c0033t0001g0213 a0001c0040t0001g0224 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0176 a0002c0002t0001g0200 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0001g0011 a0002c0005t0001g0012 a0002c0012t0001g0084 a0002c0028t0001g0035 a0004c0004t0001g0028 a0004c0004t0001g0085 a0004c0004t0001g0108 a0004c0004t0001g0114 a0004c0004t0001g0116 a0004c0004t0001g0139 a0004c0015t0001g0182 a0004c0020t0001g0131 a0005c0006t0001g0117 a0005c0006t0001g0152 a0005c0006t0001g0154 a0005c0006t0001g0164 a0005c0006t0001g0171 a0006c0007t0001g0032 a0006c0007t0001g0071 a0006c0007t0001g0106 a0008c0016t0001g0013 a0009c0031t0001g0019 a0010c0022t0001g0187 a0011c0038t0001g0048 a0013c0041t0001g0225 a0014c0024t0001g0053 a0015c0036t0003g0143 a0016c0014t0001g0006 a0017c0013t0001g0107 a0018c0030t0001g0079 a0019c0037t0001g0142 a0020c0011t0001g0216 a0023c0032t0001g0004 a0024c0017t0001g0045 a0025c0018t0001g0033 a0028c0039t0001g0148 a0030c0035t0001g0167	181	227	0.7974	-3	c.796 others(12): Show c.7969_7971delGAT	p.Asp others(7): Show p.Asp2657del	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	17/26	8260/9933	7969/9243	2657/3080	INFO_REALIGN_3_PRIME	chrX	TogoVar
ADORA2B_chr17_15940130_15980746	15974795	CCAA CCAA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01106.hp2 HG01123.hp1 HG01168.hp2 others(14): Show HG01106.hp2 HG01123.hp1 HG01168.hp2 HG02015.hp2 HG02080.hp2 HG02148.hp2 HG02615.hp1 HG02630.hp1 HG02895.hp1 HG03516.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18985.hp2 NA19062.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 others(1): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0007t0003	a0002c0002t0003g0058 a0002c0002t0003g0063 a0002c0002t0003g0126 others(14): Show a0002c0002t0003g0058 a0002c0002t0003g0063 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0142 a0002c0002t0003g0147 a0002c0002t0003g0149 a0002c0002t0003g0177 a0002c0002t0003g0190 a0002c0002t0003g0203 a0002c0002t0003g0248 a0002c0002t0003g0270 a0002c0002t0003g0283 a0002c0002t0005g0152 a0002c0002t0005g0212 a0002c0002t0007g0271 a0002c0007t0003g0046	17	344	0.0494	-3	c.457 others(10): Show c.457_459delAAC	p.Asn others(6): Show p.Asn153del	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding	2/2	576/1522	457/999	153/332	INFO_REALIGN_3_PRIME	chr17	TogoVar
AEBP2_chr12_19434492_19527227	19439879	CGGCGGCA others(17): Show CGGCGGCAGCGGTGGGGGCGGCGGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0202 a0002c0007t0002g0202	1	402	0.0025	-24	c.187 others(31): Show c.187_210delAGCGGTGGGGGCGGCGGAGGCGGC	p.Ser others(11): Show p.Ser63_Gly70del	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding	1/8	395/5830	187/1512	63/503	INFO_REALIGN_3_PRIME	chr12	TogoVar
AFF3_chr2_99540419_100147590	99593872	CGGCTGA CGGCTGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp1 HG00738.hp2 HG01106.hp1 others(3): Show HG00438.hp1 HG00738.hp2 HG01106.hp1 HG02523.hp2 HG04115.hp2 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0006 a0003c0006t0001 a0003c0006t0003 a0003c0006t0006	a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 others(3): Show a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 a0003c0006t0003g0039 a0003c0006t0003g0069 a0003c0006t0006g0052	6	98	0.0612	-6	c.178 others(15): Show c.1783_1788delTCAGCC	p.Ser others(13): Show p.Ser595_Ala596del	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	2122/10070	1783/3681	595/1226		chr2	TogoVar
AHNAK2_chr14_104932253_104983374	104948349	CGCTGAGG others(488): Show CGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACG TCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTT GCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGA ACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCC TCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTC CACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGG GGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTG AGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTG CCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGT CCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01099.hp2 HG01255.hp2 HG02258.hp1 others(2): Show HG01099.hp2 HG01255.hp2 HG02258.hp1 HG02717.hp1 HG03041.hp2	a0020 a0050 a0077 a0020 a0050 a0077	a0020c0032 a0020c0110 a0050c0106 others(1): Show a0020c0032 a0020c0110 a0050c0106 a0077c0105	a0020c0032t0002 a0020c0110t0002 a0050c0106t0002 others(1): Show a0020c0032t0002 a0020c0110t0002 a0050c0106t0002 a0077c0105t0002	a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 others(2): Show a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0050c0106t0002g0250 a0077c0105t0002g0133	5	350	0.0143	-495	c.660 others(9): Show c.6607_7101del	p.Ile others(15): Show p.Ile2203_Ser2367del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7238/18335	6607/17388	2203/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948601	CGCTGGGC others(488): Show CGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGG TCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAG GTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCC CTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCC ACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAG GTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCT CCACCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGG GCAGACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCT GTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGAT GCGCACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0079 a0079	a0079c0043 a0079c0043	a0079c0043t0001 a0079c0043t0001	a0079c0043t0001g0074 a0079c0043t0001g0074	1	353	0.0028	-495	c.635 others(9): Show c.6355_6849del	p.Met others(15): Show p.Met2119_Ser2283del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6986/18335	6355/17388	2119/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948685	TTTCGGGG others(488): Show TTTCGGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGC AGCTTGGGCAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTC CAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAA GGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGG AGACTCATGTCGGCCTCCACCTTGGGTGGAGACACATCCACCGAGGCCTC GATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTC AGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCCTGGAC GTCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCTCATTT CCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	-495	c.627 others(9): Show c.6271_6765del	p.Val others(15): Show p.Val2091_Glu2255del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6902/18335	6271/17388	2091/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949849	TCTTGAGG others(983): Show TCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC GGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTG TCCAGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGA CACCTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGC ATCTTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGC TCCCTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCT GGACCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC AGGTCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTC AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAA ATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAG CTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCT TCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTT GAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT CGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACC TCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG02647.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG02647.hp1 HG02809.hp1	a0021 a0080 a0021 a0080	a0021c0023 a0021c0062 a0080c0061 a0021c0023 a0021c0062 a0080c0061	a0021c0023t0001 a0021c0062t0001 a0080c0061t0001 a0021c0023t0001 a0021c0062t0001 a0080c0061t0001	a0021c0023t0001g0021 a0021c0062t0001g0107 a0080c0061t0001g0106 a0021c0023t0001g0021 a0021c0062t0001g0107 a0080c0061t0001g0106	4	351	0.0114	-990	c.461 others(9): Show c.4612_5601del	p.Ala others(15): Show p.Ala1538_Lys1867del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5738/18335	4612/17388	1538/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950104	CCACGTCG others(488): Show CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC CCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACA CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT GGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGC CTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTG CTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0078 a0114 a0078 a0114	a0078c0095 a0114c0101 a0078c0095 a0114c0101	a0078c0095t0001 a0114c0101t0003 a0078c0095t0001 a0114c0101t0003	a0078c0095t0001g0254 a0114c0101t0003g0251 a0078c0095t0001g0254 a0114c0101t0003g0251	2	351	0.0057	-495	c.485 others(9): Show c.4852_5346del	p.Lys others(15): Show p.Lys1618_Val1782del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5483/18335	4852/17388	1618/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950587	ACAGAGAC others(1973): Show ACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTC AGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCAC TTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGA GGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGG CCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGT GGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCT TCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAGAC ACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTT GGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCAC CATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGA GAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTC CAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGG GCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCG GCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGC CTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCT TGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGT GCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCC GAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAG TCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCC AACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACAC AGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCT TGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATC TTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCC CTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGA CCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGG TCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGA CACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACG ATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACA TCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTT GGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCA CATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGG CCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAA ACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGG GCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTC AGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCC CTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACAT CCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGC ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTT GTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCT TCTGGGCCTGGACATCCACCTCCATGCTGGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0029 a0001c0040t0001g0029	2	343	0.0058	-1980	c.288 others(9): Show c.2884_4863del	p.Pro others(14): Show p.Pro962_Leu1621del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5000/18335	2884/17388	962/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950839	CCTTGAGG others(2447): Show CCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC GGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG TAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCA TCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGA AACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCA GCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGC ACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGC TCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCT GGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTG AGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGC AGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGA ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAA CTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAG CCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTG GGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTT CAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCT CAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACC TCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTC CCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACA CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGAT GGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATC CTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGG CTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACA TCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCC CTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAAAC TGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGC AGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTCAG GTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCT GCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACATCC ACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGCAT CTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGT CGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCTTC TGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGCCATCGGG GGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAA CATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGC ATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCCTCGGGCACAGG GCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAGGTCAG CGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATG GAGGAGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGA GTCCTCCATGGACTTGCCTGGGGCCGACACCCCGAATGATGGCATCTTGA ACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCTCCTTGTCGGCC AGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGC CTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTG TCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGAGGTCC ACTTTGGGCATCTTCAAACTGGGCCTCTGCACCTTGGGCAGGTGCCCTTT GAGGCTGGCTCCCTCGGGCAGGGGGCCCTCCGGAAGTTTCACATCCACTT GGCCATCCTGGACCTCCAGGTCAGCGGAAGGGGTCTGGACGCTGAGGTCA GTGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp1 HG02109.hp1	a0062 a0062	a0062c0125 a0062c0125	a0062c0125t0002 a0062c0125t0002	a0062c0125t0002g0078 a0062c0125t0002g0078	1	340	0.0029	-2454	c.215 others(9): Show c.2158_4611del	p.Thr others(14): Show p.Thr720_Lys1537del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4748/18335	2158/17388	720/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950872	CGTCGGCC others(488): Show CGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCT CCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACC TCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTT GGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCT TGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGG TGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCAC GTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	347	0.0029	-495	c.408 others(9): Show c.4084_4578del	p.Met others(15): Show p.Met1362_Asp1526del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4715/18335	4084/17388	1362/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951367	TGTCGGCC others(983): Show TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCG GCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCC TGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACC TGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCC AGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCAC GCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGC TTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGG GCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCC TTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCA CCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGG TCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0021 a0021c0023t0001g0021	2	345	0.0058	-990	c.309 others(9): Show c.3094_4083del	p.Leu others(15): Show p.Leu1032_Asp1361del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4220/18335	3094/17388	1032/5795		chr14	TogoVar
AKAP1_chr17_57080246_57126344	57106431	GGCTTGGA others(14): Show GGCTTGGATAGAAATGAGGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02559.hp2 HG02647.hp1 HG02965.hp2 others(4): Show HG02559.hp2 HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 NA18906.hp2 NA19030.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0005 a0005c0004t0006 others(1): Show a0005c0004t0003 a0005c0004t0005 a0005c0004t0006 a0005c0004t0016	a0005c0004t0003g0155 a0005c0004t0005g0158 a0005c0004t0005g0161 others(4): Show a0005c0004t0003g0155 a0005c0004t0005g0158 a0005c0004t0005g0161 a0005c0004t0006g0160 a0005c0004t0016g0156 a0005c0004t0016g0157 a0005c0004t0016g0159	7	376	0.0186	-21	c.988 others(29): Show c.988_1008delAGCTTGGATAGAAATGAGGAG	p.Ser others(13): Show p.Ser330_Glu336del	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	2/11	1165/3909	988/2712	330/903	INFO_REALIGN_3_PRIME	chr17	TogoVar
ALG13_chrX_111676170_111765649	111744768	ACCT ACCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG02965.hp1 HG02976.hp1 others(2): Show HG00558.hp2 HG02965.hp1 HG02976.hp1 HG03471.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0003c0004 a0001c0010 a0003c0004	a0001c0010t0001 a0003c0004t0001 a0001c0010t0001 a0003c0004t0001	a0001c0010t0001g0096 a0003c0004t0001g0009 a0003c0004t0001g0065 others(2): Show a0001c0010t0001g0096 a0003c0004t0001g0009 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0067	5	187	0.0267	-3	c.283 others(12): Show c.2833_2835delCCT	p.Pro others(6): Show p.Pro945del	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	24/27	2882/4113	2833/3414	945/1137	INFO_REALIGN_3_PRIME	chrX	TogoVar
ALPK1_chr4_112292369_112447621	112432366	GTTC GTTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00735.hp1 HG02040.hp2 HG03834.hp2 others(4): Show HG00735.hp1 HG02040.hp2 HG03834.hp2 NA18747.hp1 NA18970.hp1 NA19077.hp1 NA19082.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0010 a0004c0005t0002 a0004c0005t0010	a0004c0005t0002g0129 a0004c0005t0002g0132 a0004c0005t0002g0220 others(4): Show a0004c0005t0002g0129 a0004c0005t0002g0132 a0004c0005t0002g0220 a0004c0005t0010g0056 a0004c0005t0010g0221 a0004c0005t0010g0227 a0004c0005t0010g0243	7	304	0.0230	-3	c.282 others(12): Show c.2824_2826delTCT	p.Ser others(6): Show p.Ser942del	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	11/16	3077/5399	2824/3735	942/1244	INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD30A_chr10_37120598_37237567	37177323	GTCTTATT others(11794): Show GTCTTATTTATTTTTGATGAGGACTAGAACGTAAGTTAGATATTTTTAAG AGAGATACTTTTTGAAATATGCACGAGTGAATTTTTTGTGAAGGTGATTT GTTTTTCCTGCTCAGTCACCGAGTTAATGGCCACGTGAACGTAAAGATGA GCTTGATGTAGAGAGGGTTATGTGAGGTTTTCTATCAAAATGTGTTTGTT TTCTACATGTATCTGCTCTTAAGTCGAATTGTTTGCAAAGGAGGAAATTG TGTTTTTAAAAAAGAATTTAATTAGGAAATTTTGATACTCTTCATTACTA GGATTTATCCATTGAAATTATTTATTGCTATTACTTTTAACAGAGTCTCT GTGAGACTGTTTCACAGAAGGATGTGTGTTTACCCAAGGCTGCGCATCAA AAAGAAATAGATAAAATAAATGGAAAATTAGAAGGTAAGAACCGTTTTTT ATTTAAAAATCATTTGACCAAATATTTCTCTAAATTGATGAGGAAGGATA TCCTCTAGTAGCTGAAGAAAATTACCTCCTAAATGCAAACCATGGAAAAA AAGAGAAGTGCAATGGTCATAAGCTATGTGTCTCATCAGGCATTGGCAAC AGACTATATTGTGAGTGCTGAAGAGGAGCTGAATTACTAGTTTAAATTCA AGATATTCCAAGACGTGAGGAAAATGAGAAAATAAGAAAGAAGAAAGTAG TAATAGAGTAAATGAAGACTGAGAAAGACAGAGCGTACAGAGAGTACATG AAGGAACAAGAAACAGGTTTATGTAATGGAGGATGATAAAATGAAATGAT TGTTTAGGAAAAGATCGGGTATGGTTAGAAATTTGGGAAGAATATAATGT GACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAAATATTCTGA CTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGCACCT GACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATAAGCATATCT GCACGGCCACACATGTATATAAATTGTCATATACACTCCGTATAGACCAG AGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAACAATTCACA CTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGTTCTCAGGTG ATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCAAGAGGAGAG GCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAGAAGGTCAGG ACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTTTGAGGATGT TTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAAATTATAGAT GGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGGAAAAAATAA TTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTCTAGTGATTA TTTTTGCTAAAGCAGAGAGATTGTGAGGCAGGAAGCAGGGGACAAGAGAG AAGCCAGCTAGATGATTTTGGATTTTCTATGAAGGAAAATGGAGTGAGCT CACTTCGGAAGCATTTAGAAAAGTTTTACTGCAGAATGTTAGAGTGTGGG TGCTCTGGAGACTACTGGAATCATGAGGATTACTAGAATTGGACTAAACC TCAGTGACTCATTAATTTTCTTTATTACTATGAGGCGTCAAATATATATA TATATATATATATATATATATATATATATATATATATATATAGATGTGTG CATGTATGTATGTTTTTGACGTTCACAATTTGAATAAGATATACTTGAAT GTAAGAACCTTGGCTTTATTTTTAAGGAAGCAAATTGTGTTGGTAAAATT GCCATTTTATAAAACCTCATTAGTAAATAACATGCTACACGAAACCAGAC TAATTTTGAAAACCATAAAACTCTGAATTTATGACTTGAATACCTAAATT GTTGTTATTCGTAGGTATTTTACTGATTTTAACGTAGAAAATGTTATTAA TATTTAAAAGTCTGTTGTAACTAAATTTAAATGAAATACATCAATATTGA AAGCTTATTAAATTTGCTATTCCTGATGAGATTTGTACATCTTCCTGCAT GAGTGGATTAAGAGATATTGAGATGACTAAGCTAGAAATTACAAAAATGT TGGCATACTATTCCTACATTATGGGAATGAATACCCATATTCCAAGTATA TGGGTATGAAAATCAAGGAATATTTATATTTAATATTATGCTCTAAGTAT ATATCCAAGCTGATCAATTCATAACACTTTTTCTGATGAGATGTCAATTC TACATTCAGCTGAACTCTTATCCGAACTGTGTGGCTTCTCAATGACAGGA CATATTAAAGAACATGATGAATGTTTGTAATGCAATGATATAAATTATTA TAATGTGTTGCCTTAAAGACACATGGTGTAGCATTCTACGTTCAGCTTTT GCATTTATTTTCTCAGTGTCATGATTTGCTCCTGTGATTCCAGATCAGTT GTCTCCTTATCAGTCAGCATATACTTATTGGTATTAACACTTTTTGCAAA AATCATATATAAATGGTTGTACAATGTTGTTGTCATTCTACAGCAACTTT TTAATTTTTGTTCAGCGATTAGCTTGTTTTTCATTTATTTTAAGATTTCA GGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCCAA GGTGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGG TGAAACCTCACCTCTACTAGAAATACAAAAAATCAGCCGGGCGTGGTGGT GGGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAAGAGAATGGCGT GAACCCGCGAGGCGGAGCTTGTGGTGAGCCGATATTACATTATTGTAACA TTGAAATATGCAGGTGAATGATATATAAAAAGCCTCTGGAAGTTTACTTC TAGTTTTTGATACTTTCACGTTACGTGTTTTTTCTTTTTTAGAGACAGAG TCTCGCTCTGTCATCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACT GCCACCTCCAGCTCCTGGGTTCAAGTGATTCTGGTACCTCAGTCACCCAA GTAGCTGAGATTACAGGCATGTGCCACCATACCTGGCTGATTTTTGTAAT TTTAGTGGGGACAGTGTTTCTAAAATAGTGATTTTGGCCAGGCTGGTTTG GAACTCCTGGCCTCCAGAGATCCGCCCTCCTCAGCCTTCCAAAGTGCTGG AATTACAGGCATGAGCCACTGCACCTGGCCTGTATTGGTTTGTTGATGGG TACGCTTGGACCTTTTTGTATAAGTGGATCAGGAAATTTTAAGAGGACTA AACTAGAGAACCCTATGAATGTGAAAATACTCGTATTTCACAGAGGTACA AAAATGAATATATTTATTAACTTTTATTCTATAGGTAGATATGCTGCTGA ATTTAGAACATTCTCTGCAATGATAAGTACGTTGTACCTTTGAACTCTCA TCACAACTTTGCAATTCCTAAACTCCAGGACAAATTGAAGGACATAATAG CTACATGTATATATTGACATAAGTGATTCTGACGTGTTTCCTTAACAATA TGCCATAGCATTCTCCCATTAGCTTAGTCATTTATTCTGTTTTGGTGGGG TGTGGCATGACTTGGTCATCTTATTAAATACAACTTCTTTCCTAATACGG CCGCTTTCTCTTACTGATAGTAGGATATTTCTGCTTTAGTTATTGTCACC TTAAATATATTTTCAATGTTGAAATCCTCACAGCATGTTTGATGAAATCT AGTTTTCAAATTTTCTTAGGTATATTTCTGTCACGTTGGCATGATAACAA ATGCAATAACCCAAAAGACCCCAAAAGCTAGTGTAATCCCTTTTGCAATC CAAGCATGAGGATTCATCTTCATGTTGACAGTGCGTGAATGTTCGGTAGG CTTTGTCAAGCTTGCATACAATAAATTATATATGTCCCTTTTCTTTTAGG GTCTCCTGTTAAAGATGGTCTTCTGAAGGTAATAACTTTTATATTTTTAT CTTGAGTATTAACTACATATTTTATGAAGTATACATTGTATATTAATTGT TTTCTTTCCAAACCCATTTAGGCTAACTGCGGAATGAAAGTTTCTATTCC AACTAAAGCCTTAGAATTGATGGACATGCAAACTTTCAAAGCAGGTAAAT TTTGTAATTTTAATTTTACTCTGGAAAGAAGAATATTAAAATATTTGAAA TGCTGTGAGACTTTTCATTCCCAATGTTGTTTTCTATTCATAATTTGATG GGAAATTTCGATACAAATAATGCCAATGTGAGTATTTCTGTTTGAGAAAA TGCCATTTACAAGCATAAGATTTAGAGATTTAGAAAAAAAATTCTGCTTT ACCTCATGTGGTTCTACTTTAATGTCCTGATCGGATAAAGTTTCCAATTT GCAATTTCTGTACGCGCTTGGTTTTAAGGTAGGTGAATTTTGAGACTGTG AAATATTTGCAGTGGTTCGAAGGCTGATTGGAATTCTGATGTTTACTCAG AAGAAAGTTTCACTTGCTGACATGACAGTTGTGAGTGTTACCACTCTGAG AATCTTAAGAAAATCAGTTTTTTTTTTAATAGATGACTGTGTGTGTGTGT GACTTATAATTTTAAAAAATCAGTCAAGCAATCATTACTTGATGACTCTT TGCTAGGCACCGCATTTTAGAAGAGTGACCCCAAAGCATTTGGCCTTGGT GTGTTTTAATGCTACTGTAATGAATTGCCTAGAGATACAAAAGAGCCTGA AGTAGTTTTTGTCATTCCCGTGAACGTTTACAACATTTTACAACAGGCCT TGCACGGTGGCACATGCCTGGAATCCTAGCAGTTTGGGAGACAAAGGCGG GCAGATAAGTTAAGGTCAGGAGTCCCAGACCAGCCTGGTCAAACTAGTGA AACCCCATCTCTACTAAACATAACAAAAAATAGCCGGTTGTGGTGGTGGG TGCCTGTCATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCTTGAA CCTAGGACGCAGAAGTTGCATGAGCCGAGCTTGTGCCACTTTAGCCTGAG TGACAGAGTGAGACTCCATCTGAAAAGGTAAAGAAATAAAAACACAAAAC TCACAACATATGTGTGGTTATAGACTATGTGTAGAATTTGTTTTCATGTC TTATAGGCTGTGTGTAGAATTTGTTTTCATGTCTTAAATTTTCTTTTTTT TTGTTTGTATTTTTTTCTTCAGTTTTTTTGTTTGGTTTTGTTTTTGTTTT TTTGAGATCACCCAGGCTGGAGTGCCATGGCGCCATCTCGGCTCACGCAA GCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGAGACTCCAGGTGCCTGCCACCACGCCCGGCTAATGTTTTGTATCTTT AGTAGAGACAGGGTTTCAGTGTGTTAGCCAGGATGGTCTGATCCGGATCT CCTGACCTTGTGGTCCGCCCGTCTCGGCCTCCCAAAGTACTGGAATTACA GGCATGAGGCACCGTGCCCGGCCGATGTCTGAAATTTTCAATAAATAGTT GTACACTGTACATATTGTCCTGGAACTTCCTTGTTTGCTTATCGAATATT TTAGATGGACCCAATACAATTAGCTCTGCTTTGATTTAAGGCCTCATAGT TTGCCATGTTAACTCTAAAACACATTTAATTAGACTGTGTTTCCTAGCCA CTAAAAGTCGACATTAAATGGCAGCTGATATCACAGAGCTTTTACTGAAG TGGGAGTATTTACTGCTTCATCCACTGTTAGAAATTAAAATGAAAATATT TAAAATACACGAATTGGAAAAGTCCTACTTTCCAATACGCATTACAACTG TTACTCATTAACCATGAAAATTATGACATTGTGACATGTCATGAGTCTGA AAAATTTTAGTTTACACTTTTTAGAAAATATCAGTAAATAGGAGAAATAG GAAAAACATTATGTGAACTATTAGGCCCCCGGTGTATTTGTTGAACTTCA GAGATGCTCAGATCAGAAGCTAGAACAAGAATTTTCAAAAATGCATAAGG TTTTAAAGTGCCAAATAACAAATGGGCTCTTGTATATGAAATAATGTCTG AAGTTGCACCTCTGAGTCTTTTCTCTCTTTTTCTTTTTTAAAAAGATATA AATCAAACAAAATCAAAATTTTGTTTATAATGAAAAGAGTTGGTTACAGA TTCATTCTGTGTCTCATGGCACTGTGCTCTCTTTTTCCCTAGAGAGGATC TAGACTTTTCATCTGTTTACATGGGAAGAAGTAGTTCAGTTTATGGTCTC ATTTCTCATATAAACTGTGAAAATTCTCCACGGCTTCACATGCTAGTTCA GAAGATATTGATGCCTTGAGAATAAAGCATCTGGTTGTAACTCCAGCAGT TTTATATTTAAAGTATACCTAATATAATTGTCAACCACATTACTTTAGAA AACATAAACAAAAGATAGTTACACTTATTTATTTAAAAAATGGTGACCGG GTGCGGTGGCTCACGTCTGTAACGCCAGCACGTTGGGAGGCCGTGACTGG CAGATCACGAGGTTAGGAGATCGAGACCATCCTGACTAACACGGTGAAAC CCTGTCTCTACTAAAAATACAAAAAATTAGCCGGACGTGGTGGCACGCAT TTCTAATAATTTCTCAGGCGATGCTGCTGCTGGTGGTCCTTGGAGCTTGG TCTGAGTAGCAAAAGGAGAGGCCTTTCATGGGAAAATAGTGGAAGAAGAG CAGTTGGATAGAAGGTCAAGACATAACAGGGTCAAGAGAATGCATTATAT TGCTTTTATTTCTGGGTATGCTTTTAGCCAGAGAAGAAGAAGAAAAAGAT AAACAGAAATTATAGATTTAAGATACTATCACTAAACAAAGAGAAAGGAA ATGTTGAACAAATAAATTTGAAACAGTGTTGTATGGGAAGAATTCTACAG AGTTAGAGGTTTTTTTTTAATTTCTTTTTTTTTTTTTTTTTTTTTAGTAG AAGCATTCAAGTCAGGTAACGGGACAAACAAGAAAGAATGTAGGCAGGTA ATTCTGGAGACTCTGAGAAGAACAGTTGAGTGAACTCACTTCAGATGCAT GTAGATTATTTGCACTCCAGAATGTAGACTGTGGGCACTCCAGAGACTAC CAGAATTGGGGGAACCACAGTGACTCATTAGGTTTCTCTGTTACAATCAG GCATGAGAAATATATATATTTTGTTGATGTTAGCTATTGAAATGAGATAT ATTGGAAACTGAGAACATTGGCTTTATGTTTAAGGAAGTGTGTTGTTTTG GTAAAATTGCCATTCCACAAAAATTTATTATAGACTAATGATACACCAAA CCAGGCGAATTGTAGGATCTGAAAAAATACTGAATTTATACTTGAATAAT AAGATTGCTTTTTAAGATAAATATTGTGGTGACTTAACAATGTAAAAAAA GTTACTTATGTTTATTTAATCTATTGCAATAAATTTTTATATAAATATGT CAATATTGAAAGCTTAGTATAGATTATTTCCATGATGAGTTTTACACATC TTGCATGAGTGGATCGAGAAGCATTCAGATGGATAAAGTAGAGGATACAG AATCATAGGCATATGATTACACCCTATGGTTATGGAAAAAAACGAATATT CATATTTAGTATTATGACCTAAGTGTATATCCAAGCTGATCAATTCATAA CACTTCAGTGATGAGATGTCAGTTGTACATTCGGCTGAACTCTCATCATA ACTATGTACCTTTCCAAAGATAGGCTATATTAAAGAACAGGATGAATGGA ATAATATAAGTGATTCTAATGTGTTTCATTAAGTACGTGGCGTAGCATTC CATGTTCAGCTTTGACATTTATTTTCTCATATCAACCCTTTTTACACGTG AAACACAATCTCGCTCTTGAAGTCTTAACTGCATGATCTGTGAAACCTGT ATTTATATTTTCTTCAGTGTATTCTTGTCGTGTGTGTGTCCTAAACAAAC CAAAAGAAAACTTTCCAAATCTAAAGTATTCATTCTCCAATTGGAGCAAG AGGAGTCAGTTAGATACTATCACGGCATTCATTTGTGGCTGGCTTGTCAT ATTTACTTATGATTGATAATAAATCTATTTTGCTTTTTAGAGCCTCCCGA GAAGCCATCTGCCTTCGAGGTATTTAGTTTCATGATTTCATTTTGAATGA CTTATTAACTATGTATTTTGTGAAGTATACATTCTTTATTAATCATTTTG CTTCCAACCCCATTTAGCCTGCCATTGAAATGCAAAAGTCTGTTCCAAAT AAAGCCTTGGAATTGAAGAATGAACAAACATTGAGAGCAGGTAAATTTTT TAATGGAACTATGCAAAGACCAATATTTCAATATTGGACATTTTGATGGT CCTTCTATCCCCAATGCTTTATTTTTTTCAACTTTGATGAAAAGATTTGA TCTAGGTAATGCCAATACTGGTATTGATGTTTGAAAAGCTGGTATTACAA GCACAGTAATTTTCAATATCTTTTTTTAAAAATGTAGGCTTAATCTCAGA TGTTTCTACTTTTGTATCCTGAAACTGTAATGTTTTCTATTTTGAACTTC TGTATTTCTTAAGGATTCAAGAAGGTGAATGTTGAAACTCCAATTTCTTT TTTTAGCTCTTCGAAGCTTGATTCAAATTCCACGGTTTACTTCGGGGATC CCATCTCTTACTGATATAACCCTTGTGTTTTAACATGAATTACCTTGTTT CCGGTGTTGTCACTTTGAGAATCCTAAGAAAATCAGTAACTCGGACTAGT GAACTCTGTGTGTTTATGTGTGTGTGTGTCTGCGTGTGTGCCTGCGTGTG CCTGTGTGTGTGTGGTACCTTTACCTTGTAAAGATGAGGAAAGGAATTAT TCATTTCTTTGTGAATATTTGATAAACACACTTTTTCATGAAACTGTGAT TCTGAAGCATTTGGCTTTAGAGTCCTTTTACGCTAGTACCATTTATTGCC TGGAAGTAACCAATATTCTAAACTGTTTTTAGAAACTCTTCTTATGCATG TTTAAACATTTTACAACATGTGTGCGTGGTCATATTTAATATGTACGATT TTTTTCAACTTCTAATGTGTACATGGTTGTAGAGTGTAGTGTTCGGCAAC ATTCTTTTTTGATCAGCATTATAATTTTTAGAGACATCCGTAAAGGACAC AATTAATTGTGTTTTTAAATATTAGGTTATTTATAAAATTCCATTGTATG ACAGTACCATAGTTAATTGCACAATTTTTATGCCGAGAAGTAATAAATAA AACTGAAAACATGCAAATTTGGGAGTCTTTAAAAAGTTAGTTTTATCTGC TGATTTCTTAGTCATTAGAAATTAAAAGTAACATATTTAAAGTATTTCCT TGTGCAATCATACACTCCACTAAGAATTTGAACTGTGCCCCACAGCTTCT TAGAGCTATGGTGTGGCAACACGTTAGATCTCTGAAACGATCCAGGGTAC GCTTCTAAAAATGAGTGAACATGGTGACTTACCAAAGTGTGATTTGAGTT TCCTGGACCCTCTGCATGAAATGTGAACATGAGCTATGCTGAGATCACAA GTTAAATTTACTTTTGAAACCAGGTATACAGTTGATGGATGTCAAATGAT AAACGTATGCATAGTGATGAAACGGTCTTTTAAGTTTTAGGTGTGCATGT TTGCTTTTTTCCTGAACCTGATTCAAATAGTTGTAATTTGTACTTTGTGC TGATAAAGAAAACTGGACGTTATTTTTGGTATAAATTCTTTTTCTGTCTT ATGTCCCTGAGAACTCGTCAAGTCTTGAGTGGGCCTTGATTTTATCCTAT TACACGTGGGAACATTAGATTACTTAAGGCAATTATATTTTCCTATACAT TTCTGATGTTTCTCCAAGGTGTCACAAGCTGACTCTGAAGATATTGTTGC ATTAGGGAAGAAGTGTGTCATTGTAAATGAAGCAGTTCTTAATTTATACG CAATAAAAGTTTTTTAAGCTTATCTTCCTAAAGCTTATACACACGCAAAA CACACCCAATACACTGTCATAGCATACTGAAATGTAAAAGGGTTGGACAT ATAGTTGACTGACATCAAAAAGTTAATATTTCTAAAACATCTTATTCATT GATAAATCATCTTTTTTGAAGAACTGTGTAAGAGAGATTGCTGAGTCAAT CAATGTAAGTAATACTACCAAATAAAAAGTAACAAAGAAATGAGAGATGA TAGGTAATTCCAGTTTTCTGAATGAACAGGAAACCTAGGGCATACTGCGC TTCACAGGAGAATAGGATATGACTGCTTTGTGAAGAGATAATTCATACAA GTTAGTTAAATTTCTATTTTTCTGCATTCTAATGAAATAATGTTAATTTT CAGACTTTTTAGATTTCAGTTCTATTGGAATGACTATAGAAGTAGTCATT GCAATCAACAAAAAGAATATACGGGCTACAGAGGAAAAACCTCAGATTCG TGAATGAAAGTAGATTTGTATATGTTTTTAAAATTTTTAGTAGAGAACTG TGCTCATGAATGTATCTGTGATTAACCTTTTATAGATGAGATACTCCCAT CAGAATCCAAACAAAAGGACTATGAAGAAAGTTCTTGGGATTCTGAGGTA CTATGTGTTATTGATTTTTTAAATATTAGTATTGCATGATATGAAAACAT AAAATCAGATGCTTAGACTTTATGTTCTCACCTCTGCATGTGTCACCCCC AAATTATTTTTGATATTTTTCAGTATATGCTTAACGGAGAATCTGTGTGC TAAGTAGATTCCTGCTTCACAGTGAAATTCTGGGAATTTGTACGATTAAT TTAAGAAGCCAAAGTGGTATAGTGTAAAAACTAAGGCTTAGAATTCACTA GAAATTCACATGGGATCTGGAGTACTTTTGTCTAAAAGGAAAAGAATTAC ACTGAGTCCAGCTATGGGCAAATATATGATTCTGTCTTATATCTAGAGGT AGAAAAGTTCTAATTGTATTCATAGAGAGACACTTTAAACTGCAATATTG TAAAAGTTGGGACCTGAAAATTTAATGCCTGGGACTTGAACGTATTGACA TATCTTTATTGTTCAGTATAGATCTGAAGGAACATTTCAGCAGAAAGGAA AGCATGAGGAATAGGAAACCTTGTGGGAGTATAATAACAAGAGTATTGGT TGAGTAGTCTTTTGAAAAATATAAATTATATTTTCGCAAATAGAACTCCT TGAGTCCCCTTATGGCAGTCAAGCTGAAGCAGCATGAGCGTCATATCATA GTGATGTATTTTAAGGTCACAACGGCGGAAAGACATAGAAAGTATCTGAC CTCTTAGAAACAAGCAGCTGCTGCCTGGTGGTAACAGCAAAGGGTGGAAG TCAATAGGTAGATTTTATCTGATATTTTATTAGACAGAAAGACTTTAACA CTTGTTTGCTTTCATTTAGATGTGACATAATTTTTTTCTTACTGCATTTA CATTCTATTCAAACACTTTTTCTATCACCAAAAATTTTGTCAAAAACATG TTGCTTATTTTAAGCCCCTGTTTACCGAAAGAAAGCAGCTTTTTCAAATT CTGTACATACATTCTATGACAGACTCTAAAAGTTCTCTTCGTGACATGCA TGATTTTTAACAGTAAACAGTTCTATGATCGTGAATATTTTAAATGTTTA CTGCTGTATGTGTCCCGGCAAGTAGCAAATGTGTTGTATTTTGTTTGAAA TT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0069 a0001c0020t0001g0069	1	277	0.0036	-11801	c.242 others(14): Show c.2421+1496_2469del	p.Ser others(13): Show p.Ser808_Thr824del	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36		2422/4194	808/1397	INFO_REALIGN_3_PRIME	chr10	TogoVar
AP5B1_chr11_65768898_65785976	65778692	TGGCCAGC others(8): Show TGGCCAGCACCTGCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18989.hp2 NA18989.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0043 a0012c0017t0043	a0012c0017t0043g0041 a0012c0017t0043g0041	1	422	0.0024	-15	c.178 others(24): Show c.1786_1800delCTGCAGGTGCTGGCC	p.Leu others(13): Show p.Leu596_Ala600del	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2185/6980	1786/2637	596/878		chr11	TogoVar
AP5Z1_chr7_4770623_4799397	4791165	CCAGCTCC others(5): Show CCAGCTCCACGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp1 HG01243.hp2 others(22): Show HG01070.hp2 HG01071.hp1 HG01243.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0019	a0003c0004 a0005c0011 a0005c0018 others(2): Show a0003c0004 a0005c0011 a0005c0018 a0010c0013 a0019c0029	a0003c0004t0004 a0003c0004t0007 a0005c0011t0007 others(4): Show a0003c0004t0004 a0003c0004t0007 a0005c0011t0007 a0005c0018t0019 a0010c0013t0021 a0010c0013t0045 a0019c0029t0020	a0003c0004t0004g0003 a0003c0004t0004g0054 a0003c0004t0004g0066 others(9): Show a0003c0004t0004g0003 a0003c0004t0004g0054 a0003c0004t0004g0066 a0003c0004t0004g0067 a0003c0004t0007g0016 a0003c0004t0007g0072 a0003c0004t0007g0095 a0005c0011t0007g0027 a0005c0018t0019g0052 a0010c0013t0021g0029 a0010c0013t0045g0029 a0019c0029t0020g0076	25	338	0.0740	-12	c.220 others(21): Show c.2209_2220delTCCACGCACAGC	p.Ser others(13): Show p.Ser737_Ser740del	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2302/5529	2209/2424	737/807	INFO_REALIGN_3_PRIME	chr7	TogoVar
APOA4_chr11_116815700_116828304	116820896	CCTGCTCC others(5): Show CCTGCTCCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02258.hp1 HG02258.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0031 a0010c0016t0001g0031	1	460	0.0022	-12	c.115 others(21): Show c.1150_1161delCAGCAGGAGCAG	p.Gln others(13): Show p.Gln384_Gln387del	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding	3/3	1274/1471	1150/1191	384/396		chr11	TogoVar
ARAP3_chr5_141648402_141687230	141654147	ACCCCCGT others(5): Show ACCCCCGTGCCTG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0033 a0009c0023t0001g0033	2	414	0.0048	-12	c.442 others(21): Show c.4426_4437delCAGGCACGGGGG	p.Gln others(15): Show p.Gln1476_Gly1479del	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	33/33	4512/5258	4426/4635	1476/1544		chr5	TogoVar
ARID1B_chr6_156772378_157215779	156778052	CGCGGCGG others(2): Show CGCGGCGGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02622.hp2 HG02809.hp2 HG03486.hp1 others(1): Show HG02622.hp2 HG02809.hp2 HG03486.hp1 NA19030.hp1	a0006 a0023 a0006 a0023	a0006c0037 a0006c0038 a0006c0039 others(1): Show a0006c0037 a0006c0038 a0006c0039 a0023c0040	a0006c0037t0019 a0006c0038t0002 a0006c0039t0021 others(1): Show a0006c0037t0019 a0006c0038t0002 a0006c0039t0021 a0023c0040t0002	a0006c0037t0019g0040 a0006c0038t0002g0039 a0006c0039t0021g0041 others(1): Show a0006c0037t0019g0040 a0006c0038t0002g0039 a0006c0039t0021g0041 a0023c0040t0002g0044	4	148	0.0270	-9	c.382 others(16): Show c.382_390delGCGGCGGCA	p.Ala others(13): Show p.Ala128_Ala130del	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	685/10310	382/7119	128/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID3A_chr19_921035_980939	971933	AGGC AGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(26): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00621.hp2 HG01109.hp1 HG01257.hp1 HG01891.hp2 HG02040.hp2 HG02129.hp1 HG02280.hp2 HG02683.hp1 HG02818.hp2 HG02976.hp1 HG03017.hp2 HG03239.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18969.hp1 NA18984.hp1 NA19005.hp1 NA19009.hp1 NA19064.hp2 NA19068.hp2 NA19091.hp2 NA20905.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0007 a0001c0010 a0001c0014 others(6): Show a0001c0007 a0001c0010 a0001c0014 a0001c0020 a0001c0036 a0001c0049 a0001c0053 a0005c0042 a0013c0035	a0001c0007t0043 a0001c0007t0044 a0001c0007t0131 others(24): Show a0001c0007t0043 a0001c0007t0044 a0001c0007t0131 a0001c0007t0132 a0001c0007t0133 a0001c0007t0134 a0001c0007t0175 a0001c0007t0177 a0001c0007t0182 a0001c0007t0214 a0001c0007t0215 a0001c0010t0008 a0001c0010t0130 a0001c0010t0176 a0001c0010t0187 a0001c0010t0193 a0001c0014t0008 a0001c0014t0178 a0001c0014t0181 a0001c0014t0217 a0001c0020t0119 a0001c0020t0128 a0001c0036t0044 a0001c0049t0117 a0001c0053t0216 a0005c0042t0129 a0013c0035t0220	a0001c0007t0043g0198 a0001c0007t0043g0214 a0001c0007t0044g0156 others(26): Show a0001c0007t0043g0198 a0001c0007t0043g0214 a0001c0007t0044g0156 a0001c0007t0131g0216 a0001c0007t0132g0113 a0001c0007t0133g0130 a0001c0007t0134g0115 a0001c0007t0175g0197 a0001c0007t0177g0257 a0001c0007t0182g0213 a0001c0007t0214g0236 a0001c0007t0215g0181 a0001c0010t0008g0074 a0001c0010t0008g0102 a0001c0010t0130g0037 a0001c0010t0176g0152 a0001c0010t0187g0062 a0001c0010t0193g0040 a0001c0014t0008g0291 a0001c0014t0178g0284 a0001c0014t0181g0141 a0001c0014t0217g0264 a0001c0020t0119g0323 a0001c0020t0128g0324 a0001c0036t0044g0089 a0001c0049t0117g0004 a0001c0053t0216g0250 a0005c0042t0129g0352 a0013c0035t0220g0237	29	345	0.0841	-3	c.166 others(12): Show c.1666_1668delGGC	p.Gly others(6): Show p.Gly556del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	9/9	1958/5948	1666/1782	556/593	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL17A_chr17_46547756_46584691	46557358	ACTTTAC ACTTTAC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00735.hp2 NA20805.hp2 HG00735.hp2 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	2	146	0.0137	-6	c.526 others(13): Show c.526_531delGTAAAG	p.Val others(13): Show p.Val176_Lys177del	ARL17A	ENSG00000185829.19	transcript	ENST00000336125.6	protein_coding	4/4	639/5242	526/534	176/177		chr17	TogoVar
ARMH2_chr6_24792335_24803917	24798731	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG01069.hp2 HG03491.hp2 others(1): Show HG00323.hp1 HG01069.hp2 HG03491.hp2 HG03710.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0009 a0003c0005t0001g0009	4	442	0.0090	-3	c.124 others(10): Show c.124_126delAAG	p.Lys others(5): Show p.Lys42del	ARMH2	ENSG00000260286.4	transcript	ENST00000565469.4	protein_coding	1/2	186/828	124/693	42/230		chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958393	CGCA CGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG00741.hp1 HG01106.hp1 others(6): Show HG00423.hp2 HG00741.hp1 HG01106.hp1 HG02135.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 NA21309.hp2	a0004 a0004	a0004c0007 a0004c0013 a0004c0020 a0004c0007 a0004c0013 a0004c0020	a0004c0007t0002 a0004c0007t0004 a0004c0013t0001 others(1): Show a0004c0007t0002 a0004c0007t0004 a0004c0013t0001 a0004c0020t0002	a0004c0007t0002g0001 a0004c0007t0004g0001 a0004c0013t0001g0001 others(1): Show a0004c0007t0002g0001 a0004c0007t0004g0001 a0004c0013t0001g0001 a0004c0020t0002g0001	9	227	0.0396	-3	c.184 others(10): Show c.184_186delCAG	p.Gln others(5): Show p.Gln62del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	755/2481	184/711	62/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	CGCAGCAG others(2): Show CGCAGCAGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01168.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG01168.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0021 a0007c0008t0003 a0007c0008t0021	a0007c0008t0003g0001 a0007c0008t0021g0001 a0007c0008t0003g0001 a0007c0008t0021g0001	4	222	0.0180	-9	c.178 others(16): Show c.178_186delCAGCAGCAG	p.Gln others(11): Show p.Gln60_Gln62del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	749/2481	178/711	60/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	CGCAGCAG others(5): Show CGCAGCAGCAGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03704.hp1 HG03704.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0001 a0013c0021t0001g0001	1	219	0.0046	-12	c.175 others(19): Show c.175_186delCAGCAGCAGCAG	p.Gln others(11): Show p.Gln59_Gln62del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	746/2481	175/711	59/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP2_chr16_10381061_10488638	10473936	AACTTGAT others(5): Show AACTTGATTCTAT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18612.hp1 NA18612.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0006 a0008c0020t0002g0006	1	374	0.0027	-12	c.149 others(21): Show c.1498_1509delCTTGATTCTATA	p.Leu others(13): Show p.Leu500_Ile503del	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	12/14	1801/3741	1498/2049	500/682	INFO_REALIGN_3_PRIME	chr16	TogoVar
ATG9B_chr7_151010151_151029494	151023910	GCTC GCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG02280.hp1 HG02630.hp2 others(6): Show HG01167.hp1 HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp1	a0006 a0021 a0006 a0021	a0006c0008 a0006c0016 a0006c0025 others(1): Show a0006c0008 a0006c0016 a0006c0025 a0021c0026	a0006c0008t0001 a0006c0016t0001 a0006c0025t0002 others(1): Show a0006c0008t0001 a0006c0016t0001 a0006c0025t0002 a0021c0026t0001	a0006c0008t0001g0022 a0006c0016t0001g0061 a0006c0016t0001g0063 others(2): Show a0006c0008t0001g0022 a0006c0016t0001g0061 a0006c0016t0001g0063 a0006c0025t0002g0062 a0021c0026t0001g0064	9	464	0.0194	-3	c.511 others(10): Show c.511_513delGAG	p.Glu others(6): Show p.Glu171del	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	1/14	584/3423	511/2775	171/924		chr7	TogoVar
ATG9B_chr7_151010151_151029494	151024309	AAGG AAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19030.hp2 NA19043.hp1 NA20129.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0014 a0031 a0014 a0031	a0014c0021 a0031c0024 a0014c0021 a0031c0024	a0014c0021t0001 a0031c0024t0010 a0014c0021t0001 a0031c0024t0010	a0014c0021t0001g0054 a0031c0024t0010g0176 a0014c0021t0001g0054 a0031c0024t0010g0176	3	464	0.0065	-3	c.112 others(10): Show c.112_114delCCT	p.Pro others(5): Show p.Pro38del	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	1/14	185/3423	112/2775	38/924		chr7	TogoVar

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